publicdata/nih-gov
1
0
Fork 0
Code Issues Pull requests Projects Releases Packages Wiki Activity Actions
nih-gov/www.ncbi.nlm.nih.gov/omim/305000

6082 lines
600 KiB
Text
Raw Permalink Blame History

<!DOCTYPE html>
<html xmlns="http://www.w3.org/1999/xhtml" lang="en-us" xml:lang="en-us" >
<head>
<!--
################################# CRAWLER WARNING #################################
- The terms of service and the robots.txt file disallows crawling of this site,
please see https://omim.org/help/agreement for more information.
- A number of data files are available for download at https://omim.org/downloads.
- We have an API which you can learn about at https://omim.org/help/api and register
for at https://omim.org/api, this provides access to the data in JSON & XML formats.
- You should feel free to contact us at https://omim.org/contact to figure out the best
approach to getting the data you need for your work.
- WE WILL AUTOMATICALLY BLOCK YOUR IP ADDRESS IF YOU CRAWL THIS SITE.
- WE WILL ALSO AUTOMATICALLY BLOCK SUB-DOMAINS AND ADDRESS RANGES IMPLICATED IN
DISTRIBUTED CRAWLS OF THIS SITE.
################################# CRAWLER WARNING #################################
-->
<meta http-equiv="content-type" content="text/html; charset=utf-8" />
<meta http-equiv="cache-control" content="no-cache" />
<meta http-equiv="pragma" content="no-cache" />
<meta name="robots" content="index, follow" />
<meta name="viewport" content="width=device-width, initial-scale=1" />
<meta http-equiv="X-UA-Compatible" content="IE=edge" />
<meta name="title" content="Online Mendelian Inheritance in Man (OMIM)" />
<meta name="description" content="Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,
referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries
contain copious links to other genetics resources." />
<meta name="keywords" content="Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases,
genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles,
genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics" />
<meta name="theme-color" content="#333333" />
<link rel="icon" href="/static/omim/favicon.png" />
<link rel="apple-touch-icon" href="/static/omim/favicon.png" />
<link rel="manifest" href="/static/omim/manifest.json" />
<script id='mimBrowserCapability'>
function _0x5069(){const _0x4b1387=['91sZIeLc','mimBrowserCapability','15627zshTnf','710004yxXedd','34LxqNYj','match','disconnect','1755955rnzTod','observe','1206216ZRfBWB','575728fqgsYy','webdriver','documentElement','close','open','3086704utbakv','7984143PpiTpt'];_0x5069=function(){return _0x4b1387;};return _0x5069();}function _0xe429(_0x472ead,_0x43eb70){const _0x506916=_0x5069();return _0xe429=function(_0xe42949,_0x1aaefc){_0xe42949=_0xe42949-0x1a9;let _0xe6add8=_0x506916[_0xe42949];return _0xe6add8;},_0xe429(_0x472ead,_0x43eb70);}(function(_0x337daa,_0x401915){const _0x293f03=_0xe429,_0x5811dd=_0x337daa();while(!![]){try{const _0x3dc3a3=parseInt(_0x293f03(0x1b4))/0x1*(-parseInt(_0x293f03(0x1b6))/0x2)+parseInt(_0x293f03(0x1b5))/0x3+parseInt(_0x293f03(0x1b0))/0x4+-parseInt(_0x293f03(0x1b9))/0x5+parseInt(_0x293f03(0x1aa))/0x6+-parseInt(_0x293f03(0x1b2))/0x7*(parseInt(_0x293f03(0x1ab))/0x8)+parseInt(_0x293f03(0x1b1))/0x9;if(_0x3dc3a3===_0x401915)break;else _0x5811dd['push'](_0x5811dd['shift']());}catch(_0x4dd27b){_0x5811dd['push'](_0x5811dd['shift']());}}}(_0x5069,0x84d63),(function(){const _0x9e4c5f=_0xe429,_0x363a26=new MutationObserver(function(){const _0x458b09=_0xe429;if(document!==null){let _0x2f0621=![];navigator[_0x458b09(0x1ac)]!==![]&&(_0x2f0621=!![]);for(const _0x427dda in window){_0x427dda[_0x458b09(0x1b7)](/cdc_[a-z0-9]/ig)&&(_0x2f0621=!![]);}_0x2f0621===!![]?document[_0x458b09(0x1af)]()[_0x458b09(0x1ae)]():(_0x363a26[_0x458b09(0x1b8)](),document['getElementById'](_0x458b09(0x1b3))['remove']());}});_0x363a26[_0x9e4c5f(0x1a9)](document[_0x9e4c5f(0x1ad)],{'childList':!![]});}()));
</script>
<link rel='preconnect' href='https://cdn.jsdelivr.net' />
<link rel='preconnect' href='https://cdnjs.cloudflare.com' />
<link rel="preconnect" href="https://www.googletagmanager.com" />
<script src="https://cdn.jsdelivr.net/npm/jquery@3.7.1/dist/jquery.min.js" integrity="sha256-/JqT3SQfawRcv/BIHPThkBvs0OEvtFFmqPF/lYI/Cxo=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/jquery-migrate@3.5.2/dist/jquery-migrate.js" integrity="sha256-ThFcNr/v1xKVt5cmolJIauUHvtXFOwwqiTP7IbgP8EU=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/js/bootstrap.min.js" integrity="sha256-nuL8/2cJ5NDSSwnKD8VqreErSWHtnEP9E7AySL+1ev4=" crossorigin="anonymous"></script>
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap.min.css" integrity="sha256-bZLfwXAP04zRMK2BjiO8iu9pf4FbLqX6zitd+tIvLhE=" crossorigin="anonymous">
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap-theme.min.css" integrity="sha256-8uHMIn1ru0GS5KO+zf7Zccf8Uw12IA5DrdEcmMuWLFM=" crossorigin="anonymous">
<script src="https://cdn.jsdelivr.net/npm/moment@2.29.4/min/moment.min.js" integrity="sha256-80OqMZoXo/w3LuatWvSCub9qKYyyJlK0qnUCYEghBx8=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/js/bootstrap-datetimepicker.min.js" integrity="sha256-dYxUtecag9x4IaB2vUNM34sEso6rWTgEche5J6ahwEQ=" crossorigin="anonymous"></script>
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/css/bootstrap-datetimepicker.min.css" integrity="sha256-9FNpuXEYWYfrusiXLO73oIURKAOVzqzkn69cVqgKMRY=" crossorigin="anonymous">
<script src="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.js" integrity="sha256-a+PRq3NbyK3G08Boio9X6+yFiHpTSIrbE7uzZvqmDac=" crossorigin="anonymous"></script>
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.css" integrity="sha256-JvdVmxv7Q0LsN1EJo2zc1rACwzatOzkyx11YI4aP9PY=" crossorigin="anonymous">
<script src="https://cdn.jsdelivr.net/npm/devbridge-autocomplete@1.4.11/dist/jquery.autocomplete.min.js" integrity="sha256-BNpu3uLkB3SwY3a2H3Ue7WU69QFdSRlJVBrDTnVKjiA=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/jquery-validation@1.21.0/dist/jquery.validate.min.js" integrity="sha256-umbTaFxP31Fv6O1itpLS/3+v5fOAWDLOUzlmvOGaKV4=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/js-cookie@3.0.5/dist/js.cookie.min.js" integrity="sha256-WCzAhd2P6gRJF9Hv3oOOd+hFJi/QJbv+Azn4CGB8gfY=" crossorigin="anonymous"></script>
<script src="https://cdnjs.cloudflare.com/ajax/libs/ScrollToFixed/1.0.8/jquery-scrolltofixed-min.js" integrity="sha512-ohXbv1eFvjIHMXG/jY057oHdBZ/jhthP1U3jES/nYyFdc9g6xBpjDjKIacGoPG6hY//xVQeqpWx8tNjexXWdqA==" crossorigin="anonymous"></script>
<script async src="https://www.googletagmanager.com/gtag/js?id=G-HMPSQC23JJ"></script>
<script>
window.dataLayer = window.dataLayer || [];
function gtag(){window.dataLayer.push(arguments);}
gtag("js", new Date());
gtag("config", "G-HMPSQC23JJ");
</script>
<script src="/static/omim/js/site.js?version=Zmk5Y1" integrity="sha256-fi9cXywxCO5p0mU1OSWcMp0DTQB4s8ncFR8j+IO840s="></script>
<link rel="stylesheet" href="/static/omim/css/site.css?version=VGE4MF" integrity="sha256-Ta80Qpm3w1S8kmnN0ornbsZxdfA32R42R4ncsbos0YU=" />
<script src="/static/omim/js/entry/entry.js?version=anMvRU" integrity="sha256-js/EBOBZzGDctUqr1VhnNPzEiA7w3HM5JbFmOj2CW84="></script>
<div id="mimBootstrapDeviceSize">
<div class="visible-xs" data-mim-bootstrap-device-size="xs"></div>
<div class="visible-sm" data-mim-bootstrap-device-size="sm"></div>
<div class="visible-md" data-mim-bootstrap-device-size="md"></div>
<div class="visible-lg" data-mim-bootstrap-device-size="lg"></div>
</div>
<title>
Entry
- #305000 - DYSKERATOSIS CONGENITA, X-LINKED; DKCX
- OMIM
</title>
</head>
<body>
<div id="mimBody">
<div id="mimHeader" class="hidden-print">
<nav class="navbar navbar-inverse navbar-fixed-top mim-navbar-background">
<div class="container-fluid">
<!-- Brand and toggle get grouped for better mobile display -->
<div class="navbar-header">
<button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#mimNavbarCollapse" aria-expanded="false">
<span class="sr-only"> Toggle navigation </span>
<span class="icon-bar"></span>
<span class="icon-bar"></span>
<span class="icon-bar"></span>
</button>
<a class="navbar-brand" href="/"><img alt="OMIM" src="/static/omim/icons/OMIM_davinciman.001.png" height="30" width="30"></a>
</div>
<div id="mimNavbarCollapse" class="collapse navbar-collapse">
<ul class="nav navbar-nav">
<li>
<a href="/help/about"><span class="mim-navbar-menu-font"> About </span></a>
</li>
<li class="dropdown">
<a href="#" id="mimStatisticsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Statistics <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="statisticsDropdown">
<li>
<a href="/statistics/update"> Update List </a>
</li>
<li>
<a href="/statistics/entry"> Entry Statistics </a>
</li>
<li>
<a href="/statistics/geneMap"> Phenotype-Gene Statistics </a>
</li>
<li>
<a href="/statistics/paceGraph"> Pace of Gene Discovery Graph </a>
</li>
</ul>
</li>
<li class="dropdown">
<a href="#" id="mimDownloadsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Downloads <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="downloadsDropdown">
<li>
<a href="/downloads/"> Register for Downloads </a>
</li>
<li>
<a href="/api"> Register for API Access </a>
</li>
</ul>
</li>
<li>
<a href="/contact?mimNumber=305000"><span class="mim-navbar-menu-font"> Contact Us </span></a>
</li>
<li>
<a href="/mimmatch/">
<span class="mim-navbar-menu-font">
<span class="mim-tip-bottom" qtip_title="<strong>MIMmatch</strong>" qtip_text="MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries. <br /><br />A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.">
MIMmatch
</span>
</span>
</a>
</li>
<li class="dropdown">
<a href="#" id="mimDonateDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Donate <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="donateDropdown">
<li>
<a href="https://secure.jhu.edu/form/OMIM" target="_blank" onclick="gtag('event', 'mim_donation', {'destination': 'secure.jhu.edu'})"> Donate! </a>
</li>
<li>
<a href="/donors"> Donors </a>
</li>
</ul>
</li>
<li class="dropdown">
<a href="#" id="mimHelpDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Help <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="helpDropdown">
<li>
<a href="/help/faq"> Frequently Asked Questions (FAQs) </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/help/search"> Search Help </a>
</li>
<li>
<a href="/help/linking"> Linking Help </a>
</li>
<li>
<a href="/help/api"> API Help </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/help/external"> External Links </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/help/agreement"> Use Agreement </a>
</li>
<li>
<a href="/help/copyright"> Copyright </a>
</li>
</ul>
</li>
<li>
<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
</li>
</ul>
</div>
</div>
</nav>
</div>
<div id="mimSearch" class="hidden-print">
<div class="container">
<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
<input type="hidden" id="mimSearchStart" name="start" value="1" />
<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
<div class="row">
<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
<div class="form-group">
<div class="input-group">
<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
<div class="input-group-btn">
<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
<ul class="dropdown-menu dropdown-menu-right">
<li class="dropdown-header">
Advanced Search
</li>
<li style="margin-left: 0.5em;">
<a href="/search/advanced/entry"> OMIM </a>
</li>
<li style="margin-left: 0.5em;">
<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
</li>
<li style="margin-left: 0.5em;">
<a href="/search/advanced/geneMap"> Gene Map </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/history"> Search History </a>
</li>
</ul>
</div>
</div>
<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
</div>
</div>
<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
<span class="small">
</span>
</div>
</div>
</form>
<div class="row">
<p />
</div>
</div>
</div>
<!-- <div id="mimSearch"> -->
<div id="mimContent">
<div class="container hidden-print">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<div id="mimAlertBanner">
</div>
</div>
</div>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
<div id="mimFloatingTocMenu" class="small" role="navigation">
<p>
<span class="h4">#305000</span>
<br />
<strong>Table of Contents</strong>
</p>
<nav>
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
<li role="presentation">
<a href="#title"><strong>Title</strong></a>
</li>
<li role="presentation">
<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
</li>
<li role="presentation">
<a href="/clinicalSynopsis/305000"><strong>Clinical Synopsis</strong></a>
</li>
<li role="presentation">
<a href="/phenotypicSeries/PS127550"> <strong>Phenotypic Series</strong> </a>
</li>
<li role="presentation">
<a href="#text"><strong>Text</strong></a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#description">Description</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#otherFeatures">Other Features</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#biochemicalFeatures">Biochemical Features</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#clinicalManagement">Clinical Management</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#pathogenesis">Pathogenesis</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#history">History</a>
</li>
<li role="presentation">
<a href="#seeAlso"><strong>See Also</strong></a>
</li>
<li role="presentation">
<a href="#references"><strong>References</strong></a>
</li>
<li role="presentation">
<a href="#contributors"><strong>Contributors</strong></a>
</li>
<li role="presentation">
<a href="#creationDate"><strong>Creation Date</strong></a>
</li>
<li role="presentation">
<a href="#editHistory"><strong>Edit History</strong></a>
</li>
</ul>
</nav>
</div>
</div>
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
<div id="mimFloatingLinksMenu">
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
<h4 class="panel-title">
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
<div style="display: table-row">
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">External Links</div>
</div>
</a>
</h4>
</div>
</div>
<div id="mimExternalLinksFold" class="collapse in">
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
<span class="panel-title">
<span class="small">
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">Clinical Resources</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=DYSKERATOSIS CONGENITA, X-LINKED" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>EuroGentest</div>
<div id="mimEuroGentestFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=477&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Dyskeratosis congenita&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2949&Typ=Pat" title="Hoyeraal-Hreidarsson syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Hoyeraal-Hreidarsson syndr…&nbsp;</a></div>
</div>
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK22301/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
<div><a href="https://www.diseaseinfosearch.org/x/2385" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=305000[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>Orphanet</div>
<div id="mimOrphanetFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Dyskeratosis congenita</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3322" title="Hoyeraal-Hreidarsson syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Hoyeraal-Hreidarsson syndr…</a></div>
</div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/3b9a751e-e4cd-4b1a-8459-615054ce0e4d/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0070025" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/305000" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://omia.org/OMIA000179/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:0070025" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:305000" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 707276009, 708536001<br />
<strong>ORPHA:</strong> 1775, 3322<br />
<strong>DO:</strong> 0070025<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
305000
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
DYSKERATOSIS CONGENITA, X-LINKED; DKCX
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
ZINSSER-COLE-ENGMAN SYNDROME
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="includedTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
</div>
<div>
<span class="h3 mim-font">
HOYERAAL-HREIDARSSON SYNDROME, INCLUDED; HHS, INCLUDED
</span>
</div>
<div>
<span class="h4 mim-font">
CEREBELLAR HYPOPLASIA WITH PANCYTOPENIA, INCLUDED<br />
GROWTH RETARDATION, PRENATAL, WITH PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA, INCLUDED
</span>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/876?start=-3&limit=10&highlight=876">
Xq28
</a>
</span>
</td>
<td>
<span class="mim-font">
Dyskeratosis congenita, X-linked
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/305000"> 305000 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
DKC1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300126"> 300126 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/305000" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS127550" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/305000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/305000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Intrauterine growth retardation (seen in Hoyeraal-Hreidarsson Syndrome variant, HHS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806779&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806779</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22033007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22033007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/764.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/764.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microcephaly (seen in HHS variant) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806780&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806780</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Conjunctival leukoplakia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844633&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844633</a>]</span><br /> -
Epiphora <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193982009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193982009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/418035005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">418035005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H04.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H04.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H04.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H04.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/375.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">375.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/375.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">375.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152227</a>, <a href="https://bioportal.bioontology.org/search?q=C1024522&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1024522</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009926</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009926</a>]</span><br /> -
Conjunctivitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9826008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9826008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H10.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H10.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/372.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">372.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009763&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009763</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000509</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000509</a>]</span><br /> -
Blepharitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1231722004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1231722004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41446000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41446000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H01.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H01.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H01.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H01.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H01.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H01.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/373" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">373</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/373.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">373.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/373.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">373.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/373.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">373.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005741&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005741</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000498" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000498</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000498" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000498</a>]</span><br /> -
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
Cataract <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C1690964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1690964</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
Optic atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76976005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76976005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029124</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span><br /> -
Sparse eyelashes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843300</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000653</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000653</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=09052e490ffb13e8a17a589d4a9208f0" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyelashes,Sparse-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=09052e490ffb13e8a17a589d4a9208f0&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Leukoplakia (71% male patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50978000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50978000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274134003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274134003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023531&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023531</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Dental caries <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80967001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80967001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K02</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K02.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K02.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/521.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">521.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/521.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">521.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000670</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000670</a>]</span><br /> -
Early tooth loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42756003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42756003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0232513&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232513</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006480</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006480</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Lung </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Restrictive lung disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36485005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36485005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085581</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002091" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002091</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002091" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002091</a>]</span><br /> -
Reduced diffusion capacity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844644&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844644</a>]</span><br /> -
Pulmonary fibrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51615001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51615001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034069&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034069</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002206" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002206</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002206" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002206</a>]</span><br /> -
Hepatopulmonary syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/371067004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">371067004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K76.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K76.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/573.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">573.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600452&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600452</a>]</span><br /> -
Dyspnea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267036007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267036007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230145002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230145002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.02</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/786.05" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">786.05</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013404</a>, <a href="https://bioportal.bioontology.org/search?q=C2024878&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2024878</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002094" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002094</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002094" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002094</a>]</span><br /> -
Hypoxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/389086002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">389086002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1963140&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1963140</a>, <a href="https://bioportal.bioontology.org/search?q=C0242184&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242184</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012418" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012418</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012418" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012418</a>]</span><br /> -
Pulmonary arteriovenous fistulas <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111289009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111289009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I28.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I28.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/417.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">417.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0155675&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0155675</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004952</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004952</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cirrhosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19943007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19943007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023890&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023890</a>, <a href="https://bioportal.bioontology.org/search?q=C1623038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1623038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span><br /> -
Hepatopulmonary syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/371067004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">371067004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K76.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K76.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/573.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">573.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600452&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600452</a>]</span><br /> -
Portal hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34742003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34742003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K76.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K76.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/572.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">572.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001409</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001409</a>]</span><br /> -
Nodular regenerative hyperplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36195005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36195005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/715141007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">715141007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4048264&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4048264</a>, <a href="https://bioportal.bioontology.org/search?q=C0020510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020510</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spleen </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Esophageal stricture <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63305008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63305008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K22.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K22.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/530.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">530.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551650</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002043" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002043</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002043" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002043</a>]</span><br /> -
Chronic diarrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236071009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236071009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0401151&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0401151</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002028</a>]</span><br /> -
Enteropathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85919009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85919009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K63.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K63.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/569.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">569.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0021831&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0021831</a>, <a href="https://bioportal.bioontology.org/search?q=C4316788&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4316788</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002242" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002242</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002242" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002242</a>]</span><br /> -
Enterocolitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43752006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43752006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014356&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014356</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004387</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004387</a>]</span><br /> -
Anal mucosal leukoplakia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005212</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005212</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypospadias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204888000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204888000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416010008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416010008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0848558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0848558</a>, <a href="https://bioportal.bioontology.org/search?q=C1691215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1691215</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003244</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span><br /> -
Phimosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/266571009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">266571009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253854008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253854008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/449826002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">449826002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/198006006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">198006006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N47.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N47.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0403766&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0403766</a>, <a href="https://bioportal.bioontology.org/search?q=C0345326&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345326</a>, <a href="https://bioportal.bioontology.org/search?q=C0031538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001741" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001741</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001741" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001741</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Testicular hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276411001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276411001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85437001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85437001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241355</a>, <a href="https://bioportal.bioontology.org/search?q=C0266425&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266425</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008734</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008734</a>]</span><br /> -
Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Horseshoe kidney <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41729002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41729002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221353</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000085</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000085</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Bladder </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Urethral stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236647003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236647003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76618002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76618002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N35.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N35.919" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N35.919</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N35</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/598.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">598.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/598" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">598</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0041974&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041974</a>, <a href="https://bioportal.bioontology.org/search?q=C4551691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551691</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012227" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012227</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0008661" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008661</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008661" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008661</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Osteoporosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64859006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64859006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Z82.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Z82.62</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M81.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M81.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/733.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/V17.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">V17.81</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/733.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2911643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2911643</a>, <a href="https://bioportal.bioontology.org/search?q=C0029456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029456</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Digital clubbing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30760008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30760008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R68.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R68.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149651&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149651</a>, <a href="https://bioportal.bioontology.org/search?q=C0009080&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009080</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001217" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001217</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0100759" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100759</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001217" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001217</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Reticulated skin pigmentation, predominantly on face, neck, chest, arms (94% male patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844639</a>]</span><br /> -
Hyperhidrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/312230002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">312230002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020458&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020458</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000975" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000975</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000975" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000975</a>]</span><br /> -
Skin atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400190005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400190005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L90.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L90.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004334" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004334</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004334" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004334</a>]</span><br /> -
Telangiectasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247479008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247479008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/112641009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">112641009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039446</a>, <a href="https://bioportal.bioontology.org/search?q=C5848131&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848131</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001009</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0034697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034697</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001009</a>]</span><br /> -
Cyanosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3415004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3415004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/119419001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">119419001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R23.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R23.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/782.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">782.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010520&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010520</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000961" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000961</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000961" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000961</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nails </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Nail dystrophy (92% male patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87065009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87065009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L60.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L60.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221260</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008404</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008404</a>]</span><br /> -
Longitudinal ridging <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271768001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271768001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423820&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423820</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001807" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001807</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001807" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001807</a>]</span><br /> -
Longitudinal splitting <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844642&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844642</a>]</span><br /> -
Pterygium formation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844643</a>]</span><br /> -
Complete nail loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22743000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22743000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263540&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263540</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025088" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025088</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Sparse eyelashes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843300</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000653</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000653</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=09052e490ffb13e8a17a589d4a9208f0" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyelashes,Sparse-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=09052e490ffb13e8a17a589d4a9208f0&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Hair loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278040002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278040002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56317004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56317004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L65.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L65.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/704.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/704.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3898953&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3898953</a>, <a href="https://bioportal.bioontology.org/search?q=C0002170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002170</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002293" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002293</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</a>]</span><br /> -
Premature greying <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/387833009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">387833009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L67.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L67.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263498&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263498</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002216" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002216</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002216" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002216</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Ascites in those with hepatopulmonary syndrome <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829591&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829591</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Delayed development (about 25%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
Learning difficulties <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/161129001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">161129001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424939&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424939</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001328" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001328</a>]</span><br /> -
Mental retardation (seen in HHS variant) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806776&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806776</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Cerebellar ataxia (seen in HHS variant) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806777&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806777</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
Cerebellar hypoplasia (seen in HHS variant) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806778&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806778</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16026008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16026008</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001321</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEMATOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Bone marrow failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127034005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127034005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/167928002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">167928002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D61.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D61.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/284.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">284.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855710</a>, <a href="https://bioportal.bioontology.org/search?q=C0030312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030312</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001876</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0005528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005528</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005528</a>]</span><br /> -
Myelodysplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109995007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109995007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128623006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128623006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D46</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D46.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D46.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/238.75" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">238.75</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3463824&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3463824</a>, <a href="https://bioportal.bioontology.org/search?q=C0026985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002863" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002863</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002863" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002863</a>]</span><br /> -
Pancytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127034005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127034005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D61.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D61.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/284.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">284.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030312</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001876</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001876</a>]</span><br /> -
Thrombocytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415116008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302215000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302215000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/287.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">287.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392386</a>, <a href="https://bioportal.bioontology.org/search?q=C0040034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span><br /> -
Leukopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/419188005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">419188005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84828003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84828003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.819</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/288.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.50</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0750394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0750394</a>, <a href="https://bioportal.bioontology.org/search?q=C0023530&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023530</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001882</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001882</a>]</span><br /> -
Anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271737000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002871</a>, <a href="https://bioportal.bioontology.org/search?q=C1000483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1000483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> IMMUNOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Immunodeficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/234532001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">234532001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D84.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D84.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/279.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">279.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4284394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4284394</a>, <a href="https://bioportal.bioontology.org/search?q=C0021051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0021051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002721" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002721</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002721" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002721</a>]</span><br /> -
B cell lymphopenia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855067&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855067</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010976" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010976</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010976" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010976</a>]</span><br /> -
Hypogammaglobulinemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/119250001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">119250001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D80.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D80.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/279.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">279.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086438&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086438</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004313" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004313</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004313" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004313</a>]</span><br /> -
Opportunistic infections (CMV, pneumocystis, candida) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844637&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844637</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61274003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61274003</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEOPLASIA </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Squamous cell carcinoma (skin or mucosa) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844636</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162767002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162767002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/402815007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">402815007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002860" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002860</a>]</span><br /> -
Acute myeloid leukemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91861009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91861009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162928000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162928000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C92.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C92.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C92.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C92.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/205.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">205.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023467&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023467</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004808</a>]</span><br /> -
Hodgkin disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/118599009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">118599009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/118605002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">118605002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/118602004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">118602004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1163005009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1163005009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/836277009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">836277009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C81.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C81.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/201.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">201.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/201" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">201</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/201.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">201.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/201.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">201.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019829</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012189" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012189</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012189" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012189</a>]</span><br /> -
Pancreatic carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/372142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">372142002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235974&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235974</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Short telomeres <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829592&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829592</a>]</span><br /> -
Increased chromosomal rearrangements (bone marrow and fibroblast culture) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844638&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844638</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia<br /> -
Median age of diagnosis - 15 years<br /> -
Median age of onset of pigmentation - 8 years (range 1-15 years)<br /> -
Median age of onset of nail dystrophy - 7 years (range 1-6 years)<br /> -
Median age of onset of leukoplakia - 7 years (range 1-26 years)<br /> -
Median age of onset of pancytopenia - 10 years (range 1-32 years)<br /> -
HHS is a more severe variant, often resulting in death in childhood<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the dyskerin gene (DKC1, <a href="/entry/300126#0001">300126.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Dyskeratosis congenita
- <a href="/phenotypicSeries/PS127550">PS127550</a>
- 16 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/936?start=-3&limit=10&highlight=936"> 1p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620133"> Dyskeratosis congenita, autosomal recessive 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620133"> 620133 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609683"> DCLRE1B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609683"> 609683 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/848?start=-3&limit=10&highlight=848"> 3q26.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/127550"> Dyskeratosis congenita, autosomal dominant 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/127550"> 127550 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602322"> TERC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602322"> 602322 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/22?start=-3&limit=10&highlight=22"> 5p15.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613989"> Dyskeratosis congenita, autosomal recessive 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613989"> 613989 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/187270"> TERT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/187270"> 187270 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/22?start=-3&limit=10&highlight=22"> 5p15.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613989"> Dyskeratosis congenita, autosomal dominant 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613989"> 613989 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/187270"> TERT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/187270"> 187270 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/820?start=-3&limit=10&highlight=820"> 5q35.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613987"> Dyskeratosis congenita, autosomal recessive 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613987"> 613987 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606470"> NHP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606470"> 606470 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/124?start=-3&limit=10&highlight=124"> 14q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613990"> Dyskeratosis congenita, autosomal dominant 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613990"> 613990 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604319"> TINF2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604319"> 604319 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/124?start=-3&limit=10&highlight=124"> 14q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/268130"> Revesz syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/268130"> 268130 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604319"> TINF2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604319"> 604319 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/72?start=-3&limit=10&highlight=72"> 15q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/224230"> ?Dyskeratosis congenita, autosomal recessive 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/224230"> 224230 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606471"> NOP10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606471"> 606471 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/209?start=-3&limit=10&highlight=209"> 16p13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616353"> Dyskeratosis congenita, autosomal recessive 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616353"> 616353 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604212"> PARN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604212"> 604212 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/554?start=-3&limit=10&highlight=554"> 16q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616553"> ?Dyskeratosis congenita, autosomal recessive 7 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616553"> 616553 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609377"> ACD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609377"> 609377 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/554?start=-3&limit=10&highlight=554"> 16q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616553"> ?Dyskeratosis congenita, autosomal dominant 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616553"> 616553 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609377"> ACD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609377"> 609377 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/176?start=-3&limit=10&highlight=176"> 17p13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613988"> Dyskeratosis congenita, autosomal recessive 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613988"> 613988 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612661"> WRAP53 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612661"> 612661 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/18?start=-3&limit=10&highlight=18"> 18p11.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620040"> Dyskeratosis congenita, digenic </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620040"> 620040 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188350"> TYMS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188350"> 188350 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/478?start=-3&limit=10&highlight=478"> 20q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615190"> Dyskeratosis congenita, autosomal dominant 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615190"> 615190 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608833"> RTEL1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608833"> 608833 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/478?start=-3&limit=10&highlight=478"> 20q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615190"> Dyskeratosis congenita, autosomal recessive 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615190"> 615190 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608833"> RTEL1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608833"> 608833 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/876?start=-3&limit=10&highlight=876"> Xq28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/305000"> Dyskeratosis congenita, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/305000"> 305000 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300126"> DKC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300126"> 300126 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
</span>
</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that X-linked dyskeratosis congenita (DKCX) is caused by mutation in the dyskerin gene (DKC1; <a href="/entry/300126">300126</a>) on chromosome Xq28.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<div id="mimDescriptionFold" class="collapse in ">
<span class="mim-text-font">
<p>Dyskeratosis congenita (DKC) is classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. It is characterized by short telomeres. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, hepatopulmonary syndrome, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, gastrointestinal disease (esophageal strictures or enteropathy), and learning difficulties. Males may have testicular atrophy. Predisposition to malignancy, including hematologic malignancy and squamous cell carcinoma, is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by <a href="#34" class="mim-tip-reference" title="Kirwan, M., Dokal, I. &lt;strong&gt;Dyskeratosis congenita: a genetic disorder of many faces.&lt;/strong&gt; Clin. Genet. 73: 103-112, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18005359/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18005359&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2007.00923.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18005359">Kirwan and Dokal, 2008</a>; <a href="#26" class="mim-tip-reference" title="Gorgy, A. I., Jonassaint, N. L., Stanley, S. E., Koteish, A., DeZern, A. E., Walter, J. E., Sopha, S. C., Hamilton, J. P., Hoover-Fong, J., Chen, A. R., Anders, R. A., Kamel, I. R., Armanios, M. &lt;strong&gt;Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders.&lt;/strong&gt; Chest 148: 1019-1026, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26158642/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;26158642&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=26158642[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1378/chest.15-0825&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="26158642">Gorgy et al., 2015</a>; <a href="#53" class="mim-tip-reference" title="Schratz, K. E., Flasch, D. A., Atik, C. C., Cosner, Z. L., Blackford, A. L., Yang, W., Gable, D. L., Vellanki, P. J., Xiang, Z., Gaysinskaya, V., Vonderheide, R. H., Rooper, L. M., Zhang, J., Armanios, M. &lt;strong&gt;T cell immune deficiency rather than chromosome instability predisposes patients with short telomere syndromes to squamous cancers.&lt;/strong&gt; Cancer Cell 41: 807-817, 2023.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/37037617/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;37037617&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ccell.2023.03.005&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="37037617">Schratz et al., 2023</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26158642+18005359+37037617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS can show intrauterine growth retardation, microcephaly, delayed development, bone marrow failure, immunodeficiency, cerebellar hypoplasia, immune defects (B-cell lymphopenia and hypogammaglobulinemia), and gastrointestinal manifestations, including enterocolitis and enteropathy. Death often occurs in childhood (summary by <a href="#58" class="mim-tip-reference" title="Walne, A. J., Vulliamy, T., Kirwan, M., Plagnol, V., Dokal, I. &lt;strong&gt;Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.&lt;/strong&gt; Am. J. Hum. Genet. 92: 448-453, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23453664/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23453664&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23453664[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2013.02.001&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23453664">Walne et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23453664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (<a href="/entry/127550">127550</a>).</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#55" class="mim-tip-reference" title="Sirinavin, C., Trowbridge, A. A. &lt;strong&gt;Dyskeratosis congenita: clinical features and genetic aspects: report of a family and review of the literature.&lt;/strong&gt; J. Med. Genet. 12: 339-354, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/768476/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;768476&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.12.4.339&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="768476">Sirinavin and Trowbridge (1975)</a> reported a large kindred with X-linked DKC. Pancytopenia and malignancy were features, and opportunistic infections were also a major complication. Nail dystrophy, reticulated atrophic telangiectatic hyper- and hypopigmented skin lesions, oral leukoplakia, and impaired intellectual development were described. An extensive review of the literature was provided. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=768476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Connor, J. M., Teague, R. H. &lt;strong&gt;Dyskeratosis congenita: report of a large kindred.&lt;/strong&gt; Brit. J. Derm. 105: 321-325, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7272212/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7272212&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2133.1981.tb01292.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7272212">Connor and Teague (1981)</a> reported an affected kindred, and noted 3 previously unreported complications: Hodgkin disease, pancreatic adenocarcinoma, and deafness. Normal chromosomal stability was found in the 3 patients studied. Studies uncovered no early generalized defect of cell-mediated immunity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7272212" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#60" class="mim-tip-reference" title="Womer, R., Clark, J. E., Wood, P., Sabio, H., Kelly, T. E. &lt;strong&gt;Dyskeratosis congenita: two examples of this multisystem disorder.&lt;/strong&gt; Pediatrics 71: 603-607, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6601257/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6601257&lt;/a&gt;]" pmid="6601257">Womer et al. (1983)</a> reported 2 brothers who showed reticular hyperpigmentation, dystrophic nails, oral leukoplakia, and aplastic anemia. Less common features included prenatal and postnatal growth retardation, mental retardation, elevated immunoglobulin levels, and gastrointestinal hemorrhage from mucosal ulcerations. 'New' features were intracranial calcifications and nutmeg-like cirrhosis of the liver. No increased chromosomal breakage was noted. Death occurred at ages 18 and 14 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6601257" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Davidson, H. R., Connor, J. M. &lt;strong&gt;Dyskeratosis congenita.&lt;/strong&gt; J. Med. Genet. 25: 843-846, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3236366/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3236366&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.25.12.843&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3236366">Davidson and Connor (1988)</a> provided an extensive review of 104 published cases of which 51 had previously been reviewed by <a href="#55" class="mim-tip-reference" title="Sirinavin, C., Trowbridge, A. A. &lt;strong&gt;Dyskeratosis congenita: clinical features and genetic aspects: report of a family and review of the literature.&lt;/strong&gt; J. Med. Genet. 12: 339-354, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/768476/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;768476&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.12.4.339&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="768476">Sirinavin and Trowbridge (1975)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3236366+768476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#50" class="mim-tip-reference" title="Phillips, R. J., Judge, M., Webb, D., Harper, J. I. &lt;strong&gt;Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation.&lt;/strong&gt; Brit. J. Derm. 127: 278-280, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1390173/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1390173&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2133.1992.tb00128.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1390173">Phillips et al. (1992)</a> described a 5-year-old boy who was treated with bone marrow transplantation for aplastic anemia at the age of 2 years. The diagnosis of dyskeratosis congenita was not made until 18 months after the bone marrow transplant. He had diffuse nonscarring alopecia and problems related to bilateral lacrimal duct blockage. At the age of 5 years, all nails were hypoplastic and irregular, and he had reticulate hyperpigmentation on his neck. He required a hearing aid and had poor vision in one eye. Lacrimal duct stenosis is said to be present in about 80% of cases. In 70%, pancytopenia is the cause of death. Because of a previously widely held view that the outcome of bone marrow transplantation in this disorder is poor, this treatment option was sometimes not considered when pancytopenia developed. <a href="#50" class="mim-tip-reference" title="Phillips, R. J., Judge, M., Webb, D., Harper, J. I. &lt;strong&gt;Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation.&lt;/strong&gt; Brit. J. Derm. 127: 278-280, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1390173/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1390173&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2133.1992.tb00128.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1390173">Phillips et al. (1992)</a> suggested that the results may be satisfactory if radiation is avoided. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1390173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Bone marrow failure has been reported in approximately 50% of cases of dyskeratosis congenita (<a href="#20" class="mim-tip-reference" title="Dokal, I. &lt;strong&gt;Dyskeratosis congenita: an inherited bone marrow failure syndrome.&lt;/strong&gt; Brit. J. Haemat. 92: 775-779, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8616066/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8616066&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2141.1996.355881.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8616066">Dokal, 1996</a>), and in some patients symptoms related to aplastic anemia may precede the diagnosis of DKC (<a href="#22" class="mim-tip-reference" title="Forni, G. L., Melevendi, C., Jappelli, S., Rasore-Quartino, A. &lt;strong&gt;Dyskeratosis congenita: unusual presenting features within a kindred.&lt;/strong&gt; Pediat. Hemat. Oncol. 10: 145-149, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8318369/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8318369&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3109/08880019309016548&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8318369">Forni et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8318369+8616066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Caux, F., Aractingi, S., Sawaf, M. H., Ouhayoun, J.-P., Dubertret, L., Gluckman, E. &lt;strong&gt;Dyskeratosis congenita.&lt;/strong&gt; Europ. J. Derm. 6: 332-334, 1996."None>Caux et al. (1996)</a> presented a patient and reviewed the pathogenesis of the disorder.</p><p><a href="#41" class="mim-tip-reference" title="Merchant, A., Zhao, T.-Z., Foster, C. S. &lt;strong&gt;Chronic keratoconjunctivitis associated with congenital dyskeratosis and erythrokeratodermia variablis (sic): two rare genodermatoses.&lt;/strong&gt; Ophthalmology 105: 1286-1291, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9663235/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9663235&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/S0161-6420(98)97035-X&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9663235">Merchant et al. (1998)</a> described the changes of chronic keratoconjunctivitis in a case of congenital dyskeratosis thought to be autosomal dominant with 'variable penetration.' In general, the disorder is more likely to be X-linked, and the family history suggested that this was the case with partial expression in heterozygous females. The patient was a 58-year-old man from Puerto Rico. In addition to chronic cicatrizing keratoconjunctivitis, which was said to have been a problem since 5 years of age, he had reticulate pigmentation of the skin, dystrophic nails, leukoplakia, alopecia, dental problems resulting in tooth loss, and thrombocytopenia. The patient's mother had a mild form of the disorder with limited skin involvement, and 2 brothers had significant skin pigmentation and nail dystrophy. One of the brothers also had a history of tongue cancer. The patient had 1 son who had no manifestations of the disease but 2 of his 3 daughters had classic skin and nail findings of congenital dyskeratosis, and the third daughter had subtle skin changes. One of the daughter's sons, who was 17 years old, had early pigmentary skin changes and significant thrombocytopenia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9663235" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the Dyskeratosis Congenita Registry at the Hammersmith Hospital in London, 46 families were recruited (<a href="#35" class="mim-tip-reference" title="Knight, S., Vulliamy, T., Copplestone, A., Gluckman, E., Mason, P., Dokal, I. &lt;strong&gt;Dyskeratosis Congenita (DC) Registry: identification of new features of DC.&lt;/strong&gt; Brit. J. Haemat. 103: 990-996, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9886310/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9886310&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2141.1998.01103.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9886310">Knight et al., 1998</a>). Of 83 patients, 76 were male, suggesting that the major form of DKC is X-linked. In addition to a variety of noncutaneous abnormalities, most of the patients (93%) had bone marrow failure, which was the principal cause (71%) of early mortality. Some patients also developed myelodysplasia and acute myeloid leukemia. Pulmonary abnormalities were present in 19% of patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9886310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#48" class="mim-tip-reference" title="Parry, E. M., Alder, J. K., Lee, S. S., Phillips, J. A., III, Loyd, J. E., Duggal, P., Armanios, M. &lt;strong&gt;Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita.&lt;/strong&gt; J. Med. Genet. 48: 327-333, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21415081/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21415081&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21415081[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2010.085100&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21415081">Parry et al. (2011)</a> reported a large family of Irish ancestry with X-linked inheritance of adult-onset pulmonary fibrosis. Clinical history revealed that affected members also had features suggestive of DKC, including nail dystrophy, skin hyperpigmentation, and liver cirrhosis. One patient died of squamous cell carcinoma at age 34 years, but there was no family history of aplastic anemia. Four affected males had telomere lengths at or below the 1st centile compared to controls, as well as low levels of telomerase RNA. Western blot analysis showed low levels of dyskerin in affected males, but sequencing of the DKC1 gene did not identify any pathogenic mutations. However, genomewide linkage analysis identified a 47-cM peak on chromosome Xq28 (lod score of 3.25), and obligate carriers females showed skewed X inactivation. The findings indicated that intact levels of dyskerin, in the absence of coding mutations, are essential for in vito telomere maintenance, and that a defect in dyskerin levels is sufficient to cause telomere-mediated disease. <a href="#48" class="mim-tip-reference" title="Parry, E. M., Alder, J. K., Lee, S. S., Phillips, J. A., III, Loyd, J. E., Duggal, P., Armanios, M. &lt;strong&gt;Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita.&lt;/strong&gt; J. Med. Genet. 48: 327-333, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21415081/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21415081&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21415081[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2010.085100&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21415081">Parry et al. (2011)</a> emphasized the high frequency of pulmonary fibrosis as a manifestation of the disorder in this family. Affected individuals died as adults, suggesting that pulmonary disease may represent an attenuated, adult-onset telomere phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21415081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Jonassaint, N. L., Guo, N., Califano, J. A., Montgomery, E. A., Armanios, M. &lt;strong&gt;The gastrointestinal manifestations of telomere-mediated disease.&lt;/strong&gt; Aging Cell 12: 319-323, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23279657/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23279657&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/acel.12041&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23279657">Jonassaint et al. (2013)</a> identified significant gastrointestinal disease in 6 (16%) of 38 individuals from a registry of patients with short telomere syndromes due to various genetic defects. Two of these patients had mutations in the DKC1 gene. Patient 2 was a 3-year-old boy with a diagnosis of Hoyeraal-Hreidarsson syndrome (HHS) and patient 6 was a 34-year-old man with classic features of DKC. Both had dysphagia due to severe esophageal stenosis with a membranous web that partially occluded the lumen. Balloon dilation resulted in clinical improvement in both patients. Patient 6 also had atrophic gastritis with parietal cell dropout, villous blunting in the bowel, increased epithelial apoptosis in the duodenum, and duodenal and colonic intraepithelial lymphocytosis. A review of the literature identified additional patients with DKC and HHS who had gastrointestinal disease; some of these patients had mutations in the DKC1 gene, but the gene defect in other patients was not reported. Overall, intestinal disease presented earlier and was more severe in younger patients with HHS compared to those with classic DKC. Dysphagia due to esophageal stricture and stenosis was the most common upper GI feature; it was observed mainly in patients with DKC, although a few patients had HHS. Chronic diarrhea with failure to thrive due to enteropathy and enterocolitis was the most common lower GI feature; it was observed mainly in younger patients with HHS and was often a presenting feature. Histopathologic findings included pancolitis, atrophic mucosa, gland dropout, lamina propria fibrosis, intraepithelial lymphocytosis, and epithelial cell apoptosis. The disease course in HHS patients with lower GI disease was sometimes life-threatening, requiring total parenteral nutrition or colectomy. All patients with HHS and intestinal disease had a concurrent B-cell lymphopenia and/or hypogammaglobulinemia. The findings suggested that telomere dysfunction disrupts the epithelial integrity of the GI tract. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23279657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Gorgy, A. I., Jonassaint, N. L., Stanley, S. E., Koteish, A., DeZern, A. E., Walter, J. E., Sopha, S. C., Hamilton, J. P., Hoover-Fong, J., Chen, A. R., Anders, R. A., Kamel, I. R., Armanios, M. &lt;strong&gt;Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders.&lt;/strong&gt; Chest 148: 1019-1026, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26158642/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;26158642&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=26158642[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1378/chest.15-0825&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="26158642">Gorgy et al. (2015)</a> diagnosed hepatopulmonary syndrome (HPS) in 2 unrelated males (patients 1 and 6) with X-linked DKC who had short telomeres and progressive dyspnea without parenchymal lung disease or fibrosis. One patient was diagnosed at age 8 years and died at age 17; the other was diagnosed at age 34 and died at 40. Features included cyanosis, digital clubbing, splenomegaly, elevated liver enzymes, portal hypertension, ascites, and variceal bleeding. Both had evidence of intra- and extra-pulmonary arteriovascular fistulas that caused shunt physiology. Patient 6 had nodular regenerative hyperplasia on liver biopsy. Variable syndromic features found in these patients included bone marrow failure and skin telangiectasia. The authors concluded that HPS can cause dyspnea in telomerase gene mutation carriers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26158642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#53" class="mim-tip-reference" title="Schratz, K. E., Flasch, D. A., Atik, C. C., Cosner, Z. L., Blackford, A. L., Yang, W., Gable, D. L., Vellanki, P. J., Xiang, Z., Gaysinskaya, V., Vonderheide, R. H., Rooper, L. M., Zhang, J., Armanios, M. &lt;strong&gt;T cell immune deficiency rather than chromosome instability predisposes patients with short telomere syndromes to squamous cancers.&lt;/strong&gt; Cancer Cell 41: 807-817, 2023.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/37037617/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;37037617&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ccell.2023.03.005&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="37037617">Schratz et al. (2023)</a> identified 16 invasive solid tumors in 14 of 226 adults with short telomere syndromes due to mutations in several genes, including DKC1. Nearly all (88%) of the tumors were derived from the squamous cell epithelium, most commonly of the head and neck, followed by anal squamous cell carcinoma and skin squamous cell carcinoma. In contrast, there was a lower than expected number of common age-related solid cancers among these patients. Most of the patients who developed squamous cell solid tumors were male. Development of the tumors was associated with CD4+ T-cell lymphopenia, suggesting impaired tumor surveillance by T cells and age-related T-cell exhaustion. Of note, all 3 anal cancers and 1 laryngeal cancer were associated with HPV infection, and 4 of 10 patients with T-cell lymphopenia had secondary causes for the lymphopenia (lung or liver transplant or iatrogenic immunosuppression). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37037617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Hoyeraal-Hreidarsson Syndrome</em></strong></p><p>
<a href="#29" class="mim-tip-reference" title="Hoyeraal, H. M., Lamvik, J., Moe, P. J. &lt;strong&gt;Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers.&lt;/strong&gt; Acta Paediat. Scand. 59: 185-191, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5442429/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5442429&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1651-2227.1970.tb08986.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5442429">Hoyeraal et al. (1970)</a> reported 2 brothers with prenatal growth retardation, microcephaly, mental retardation with spastic paresis and ataxia, pancerebellar hypoplasia, thrombocytopenia, and bone marrow hypoplasia. <a href="#30" class="mim-tip-reference" title="Hreidarsson, S., Kristjansson, K., Johannesson, G., Johannsson, J. H. &lt;strong&gt;A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure.&lt;/strong&gt; Acta Paediat. Scand. 77: 773-775, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3201986/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3201986&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1651-2227.1988.tb10751.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3201986">Hreidarsson et al. (1988)</a> reported a single affected male and proposed that the disorder is autosomal recessive because the parents were consanguineous. The brothers of <a href="#29" class="mim-tip-reference" title="Hoyeraal, H. M., Lamvik, J., Moe, P. J. &lt;strong&gt;Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers.&lt;/strong&gt; Acta Paediat. Scand. 59: 185-191, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5442429/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5442429&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1651-2227.1970.tb08986.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5442429">Hoyeraal et al. (1970)</a> died at 23 and 42 months of age; the patient of <a href="#30" class="mim-tip-reference" title="Hreidarsson, S., Kristjansson, K., Johannesson, G., Johannsson, J. H. &lt;strong&gt;A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure.&lt;/strong&gt; Acta Paediat. Scand. 77: 773-775, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3201986/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3201986&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1651-2227.1988.tb10751.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3201986">Hreidarsson et al. (1988)</a> died at 23 months of age. <a href="#2" class="mim-tip-reference" title="Aalfs, C. M., van den Berg, H., Barth, P. G., Hennekam, R. C. M. &lt;strong&gt;The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia.&lt;/strong&gt; Europ. J. Pediat. 154: 304-308, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7607282/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7607282&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01957367&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7607282">Aalfs et al. (1995)</a> reported a single case, a male with nonconsanguineous parents who was still alive at the age of 4 years. Like the case of <a href="#30" class="mim-tip-reference" title="Hreidarsson, S., Kristjansson, K., Johannesson, G., Johannsson, J. H. &lt;strong&gt;A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure.&lt;/strong&gt; Acta Paediat. Scand. 77: 773-775, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3201986/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3201986&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1651-2227.1988.tb10751.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3201986">Hreidarsson et al. (1988)</a>, the patient had pancytopenia, as well as intrauterine growth retardation, microcephaly, developmental delay, spastic paresis, ataxia, and cerebellar hypoplasia. <a href="#7" class="mim-tip-reference" title="Berthet, F., Caduff, R., Schaad, U. B., Roten, H., Tuchschmid, P., Boltshauser, E., Seger, R. A. &lt;strong&gt;A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia.&lt;/strong&gt; Europ. J. Pediat. 153: 333-338, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8033921/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8033921&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01956413&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8033921">Berthet et al. (1994)</a> and <a href="#8" class="mim-tip-reference" title="Berthet, F., Tuchschmid, P., Boltshauser, E., Seger, R. A. &lt;strong&gt;The Hoyeraal-Hreidarsson syndrome: don&#x27;t forget the associated immunodeficiency. (Letter)&lt;/strong&gt; Europ. J. Pediat. 154: 998, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8801113/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8801113&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01958649&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8801113">Berthet et al. (1995)</a> suggested that immunodeficiency is a feature of this syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8801113+7607282+8033921+5442429+3201986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#51" class="mim-tip-reference" title="Reardon, W., Hockey, A., Silberstein, P., Kendall, B., Farag, T. I., Swash, M., Stevenson, R. &lt;strong&gt;Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification and CNS disease.&lt;/strong&gt; Am. J. Med. Genet. 52: 58-65, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7977464/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7977464&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320520112&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7977464">Reardon et al. (1994)</a> suggested that this is the same condition as the autosomal recessive congenital intrauterine infection-like syndrome, or pseudo-TORCH syndrome (<a href="/entry/251290">251290</a>). <a href="#1" class="mim-tip-reference" title="Aalfs, C. M., Hennekam, R. C. M. &lt;strong&gt;Differences between the Hoyeraal-Hreidarsson syndrome and an autosomal recessive congenital intrauterine infection-like syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 58: 385 only, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8533857/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8533857&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320580423&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8533857">Aalfs and Hennekam (1995)</a> described several differences between the 2 syndromes. Patients with Hoyeraal-Hreidarsson syndrome show only growth retardation and microcephaly in the first months of life, whereas those with the pseudo-TORCH syndrome have symptoms resembling TORCH infection shortly after birth, including hepatosplenomegaly. Furthermore, in the intrauterine infection-like syndrome, the neonatally present thrombocytopenia resolves within a year if the child survives, whereas in the Hoyeraal-Hreidarsson syndrome the first symptoms of pancytopenia do not occur before the age of 5 months and continue to increase for years. The cerebellum is proportionately small in Hoyeraal-Hreidarsson syndrome, whereas the cerebral abnormalities are more severe in the pseudo-TORCH syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8533857+7977464" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#47" class="mim-tip-reference" title="Ohga, S., Kai, T., Honada, K., Nakayama, H., Inamitsu, T., Ueda, K. &lt;strong&gt;What are the essential symptoms in the Hoyeraal-Hreidarsson syndrome? (Letter)&lt;/strong&gt; Europ. J. Pediat. 156: 80-81, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9007502/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9007502&lt;/a&gt;]" pmid="9007502">Ohga et al. (1997)</a> summarized 6 reported cases of Hoyeraal-Hreidarsson syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9007502" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#39" class="mim-tip-reference" title="Mahmood, F., King, M. D., Smyth, O. P., Farrell, M. A. &lt;strong&gt;Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages.&lt;/strong&gt; Neuropediatrics 29: 302-306, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10029349/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10029349&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1055/s-2007-973582&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10029349">Mahmood et al. (1998)</a> described 2 sibs with low birthweight, failure to thrive, chronic persistent tongue ulceration, severe truncal ataxia, and pancytopenia without either telangiectasia or chromosomal instability. One sib died from sepsis and the cerebellum demonstrated reduced cellularity of the molecular and granular layers with relative preservation of Purkinje cells and minimal gliosis. The surviving sib showed hematologic progression to a myelodysplastic disorder. There was no evidence of chromosomal instability following exposure of fibroblasts and lymphocytes to irradiation. Monosomy-7 was not present in the surviving sib. <a href="#39" class="mim-tip-reference" title="Mahmood, F., King, M. D., Smyth, O. P., Farrell, M. A. &lt;strong&gt;Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages.&lt;/strong&gt; Neuropediatrics 29: 302-306, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10029349/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10029349&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1055/s-2007-973582&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10029349">Mahmood et al. (1998)</a> suggested the diagnosis of Hoyeraal-Hreidarsson syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10029349" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#62" class="mim-tip-reference" title="Yaghmai, R., Kimyai-Asadi, A., Rostamiani, K., Heiss, N. S., Poustka, A., Eyaid, W., Bodurtha, J., Nousari, H. C., Hamosh, A., Metzenberg, A. &lt;strong&gt;Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.&lt;/strong&gt; J. Pediat. 136: 390-393, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10700698/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10700698&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1067/mpd.2000.104295&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10700698">Yaghmai et al. (2000)</a> reported a 4-year-old boy with pancytopenia and oral ulcers who was born at 32 weeks' gestation with intrauterine growth retardation. He had developed esophageal strictures and gastric ulcers, and also had moderate hypoplasia of the midline cerebellum and Dandy-Walker variant (<a href="/entry/220200">220200</a>). He had microcephaly, thin, brittle scalp hair, 20-nail dystrophy, and subtle reticulated hyperpigmentation of the shoulder and arms. This child had striking features of both Hoyeraal-Hreidarsson syndrome and X-linked dyskeratosis congenita. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#49" class="mim-tip-reference" title="Pearson, T., Curtis, F., Al-Eyadhy, A., Al-Tamemi, S., Mazer, B., Dror, Y., Abish, S., Bale, S., Compton, J., Ray, R., Scott, P., Der Kaloustian, V. M. &lt;strong&gt;An intronic mutation in DKC1 in an infant with Hoyeraal-Hreidarsson syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 146A: 2159-2161, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18627054/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18627054&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32412&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18627054">Pearson et al. (2008)</a> reported a 9-month-old Italian boy with HHS. The pregnancy was complicated by decreased fetal movements, intrauterine growth retardation, and oligohydramnios. He had microcephaly, neonatal respiratory distress, and transient thrombocytopenia and leukopenia. At age 4 months, he presented with seizures and axial hypotonia. Brain MRI showed cerebellar hypoplasia, and other radiographs showed distal metaphyseal flaring of the long bones. Although most hematologic indices remained relatively normal, his platelet counts continued to fall below normal, requiring transfusions. He died at age 2 years. Genetic analysis identified a hemizygous mutation in the DKC1 gene (<a href="/entry/300126#0015">300126.0015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18627054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Female Carriers</em></strong></p><p>
<a href="#3" class="mim-tip-reference" title="Alder, J. K., Parry, E. M., Yegnasubramanian, S., Wagner, C. L., Lieblich, L. M., Auerbach, R., Auerbach, A. D., Wheelan, S. J., Armanios, M. &lt;strong&gt;Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.&lt;/strong&gt; Hum. Mutat. 34: 1481-1485, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23946118/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23946118&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23946118[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.22397&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23946118">Alder et al. (2013)</a> reported 2 unrelated families with DKCX, confirmed by genetic analysis, in which 5 female mutation carriers showed features of the disorder. In the first family, a man developed pulmonary fibrosis at age 46 years, followed by aplastic anemia and myelodysplastic syndrome resulting in death at age 49. His daughter showed graying of the hair at age 20 and wound dehiscence after surgery at age 23. The father's telomere length was below 1% of controls, and the daughter's telomere length was near 5% of controls. X-inactivation in the daughter was skewed at 93%. In the second family, 2 affected brothers had a total of 3 affected daughters. The daughters showed features of DKC in childhood, including skin hyperpigmentation, nail dystrophy, fragile teeth with caries, and hair graying. One daughter had developmental delay and another had anosmia. X-inactivation studies performed in 2 females showed 100% skewing. The findings indicated that mutations in the DKC1 gene can cause telomere-related phenotypes in heterozygous females, and <a href="#3" class="mim-tip-reference" title="Alder, J. K., Parry, E. M., Yegnasubramanian, S., Wagner, C. L., Lieblich, L. M., Auerbach, R., Auerbach, A. D., Wheelan, S. J., Armanios, M. &lt;strong&gt;Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.&lt;/strong&gt; Hum. Mutat. 34: 1481-1485, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23946118/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23946118&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23946118[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.22397&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23946118">Alder et al. (2013)</a> suggested that heterozygous females should be followed for telomere-related complications, particularly when exposed to environmental insults. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23946118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="otherFeatures" class="mim-anchor"></a>
<h4 href="#mimOtherFeaturesFold" id="mimOtherFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimOtherFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Other Features</strong>
</span>
</h4>
</div>
<div id="mimOtherFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#33" class="mim-tip-reference" title="Kalb, R. E., Grossman, M. E., Hutt, C. &lt;strong&gt;Avascular necrosis of bone in dyskeratosis congenita.&lt;/strong&gt; Am. J. Med. 80: 511-513, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3953626/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3953626&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9343(86)90730-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3953626">Kalb et al. (1986)</a> described a 33-year-old man with typical features of DKC as well as avascular necrosis of the femoral head. Such had previously been reported in cases of this disorder but only in patients who had received systemic adrenocorticosteroids for pancytopenia or thrombocytopenia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3953626" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#52" class="mim-tip-reference" title="Reichel, M., Grix, A. C., Isseroff, R. R. &lt;strong&gt;Dyskeratosis congenita associated with elevated fetal hemoglobin, X-linked ocular albinism, and juvenile-onset diabetes mellitus.&lt;/strong&gt; Pediat. Derm. 9: 103-106, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1376473/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1376473&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1525-1470.1992.tb01223.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1376473">Reichel et al. (1992)</a> found reports of 15 cases of elevated fetal hemoglobin in association with DKC and added another case, an 11-year-old boy who, in addition to DKC and elevated fetal hemoglobin, had X-linked ocular albinism and juvenile-onset diabetes mellitus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1376473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="biochemicalFeatures" class="mim-anchor"></a>
<h4 href="#mimBiochemicalFeaturesFold" id="mimBiochemicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimBiochemicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Biochemical Features</strong>
</span>
</h4>
</div>
<div id="mimBiochemicalFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>In fibroblasts from a patient with DKC, <a href="#17" class="mim-tip-reference" title="DeBauche, D. M., Pai, G. S., Stanley, W. S. &lt;strong&gt;Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts.&lt;/strong&gt; Am. J. Hum. Genet. 46: 350-357, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2301400/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2301400&lt;/a&gt;]" pmid="2301400">DeBauche et al. (1990)</a> found increased frequency of chromatid breaks and chromatid gaps after X-radiation during the G-2 phase of the cell cycle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2301400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#45" class="mim-tip-reference" title="Ning, Y., Yongshan, Y., Pai, G. S., Gross, A. J. &lt;strong&gt;Heterozygote detection through bleomycin-induced G(2) chromatid breakage in dyskeratosis congenita families.&lt;/strong&gt; Cancer Genet. Cytogenet. 60: 31-34, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1375530/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1375530&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0165-4608(92)90229-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1375530">Ning et al. (1992)</a> found that the mean number of chromosome breaks per cell in bleomycin-treated lymphocytes was higher in patients with dyskeratosis congenita and in obligatory heterozygotes than in normal individuals. Unequivocal heterozygote detection was not possible owing to overlap of values. In vitro clonogenic assays, as well as long-term bone marrow culture studies (<a href="#40" class="mim-tip-reference" title="Marsh, J. C. W., Will, A. J., Hows, J. M., Sartori, P., Darbyshire, P. J., Williamson, P. J., Oscier, D. G., Dexter, T. M., Testa, N. G. &lt;strong&gt;&#x27;Stem cell&#x27; origin of the hematopoietic defect in dyskeratosis congenita.&lt;/strong&gt; Blood 79: 3138-3144, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1596563/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1596563&lt;/a&gt;]" pmid="1596563">Marsh et al., 1992</a>), suggested that symptoms of aplastic anemia in DKC may be due to a defect at the level of the hematopoietic stem cell. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1375530+1596563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 patients with DKC, 3 from 1 family and 1 from another, <a href="#19" class="mim-tip-reference" title="Dokal, I., Bungey, J., Williamson, P., Oscier, D., Hows, J., Luzzatto, L. &lt;strong&gt;Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements.&lt;/strong&gt; Blood 80: 3090-3096, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1361371/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1361371&lt;/a&gt;]" pmid="1361371">Dokal et al. (1992)</a> found that primary skin fibroblast cultures were abnormal both in morphology (polygonal cell shape, ballooning, and dendritic-like projections) and in growth rate (doubling time about twice normal). Fibroblast survival studies using 4 clastogens and gamma radiation showed no significant difference between DKC and normal fibroblasts. Furthermore, cytogenetic studies performed on peripheral blood lymphocytes showed no difference between DKC and normal lymphocytes with or without prior incubation with clastogens. However, bone marrow metaphases from 1 of 3 patients and fibroblasts from 2 of 4 patients showed numerous unbalanced chromosomal rearrangements (dicentrics, tricentrics, and translocations) in the absence of any clastogenic agents. A higher rate of chromosomal rearrangements was found in the older patients and this, together with the cell-specific differences, appeared to correlate with the clinical evolution of the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1361371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="clinicalManagement" class="mim-anchor"></a>
<h4 href="#mimClinicalManagementFold" id="mimClinicalManagementToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimClinicalManagementToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Clinical Management</strong>
</span>
</h4>
</div>
<div id="mimClinicalManagementFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>In a review, <a href="#20" class="mim-tip-reference" title="Dokal, I. &lt;strong&gt;Dyskeratosis congenita: an inherited bone marrow failure syndrome.&lt;/strong&gt; Brit. J. Haemat. 92: 775-779, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8616066/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8616066&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2141.1996.355881.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8616066">Dokal (1996)</a> noted that late fatal vascular complications had been reported in some cases following bone marrow transplantation (<a href="#9" class="mim-tip-reference" title="Berthou, C., Devergie, A., D&#x27;Agay, M. F., Sonsino, E., Scrobohaci, M. L., Loirat, C., Gluckman, E. &lt;strong&gt;Late vascular complications after bone marrow transplantation for dyskeratosis congenita.&lt;/strong&gt; Brit. J. Haemat. 79: 335-336, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1958493/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1958493&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2141.1991.tb04543.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1958493">Berthou et al., 1991</a>). This may be related to preexisting endothelial damage in DKC patients, as evidenced by raised von Willebrand factor (<a href="/entry/613160">613160</a>) levels in the plasma. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1958493+8616066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Dokal, I. &lt;strong&gt;Dyskeratosis congenita: an inherited bone marrow failure syndrome.&lt;/strong&gt; Brit. J. Haemat. 92: 775-779, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8616066/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8616066&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2141.1996.355881.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8616066">Dokal (1996)</a> suggested that DKC may be a good candidate for gene therapy for several reasons: first, it is a single gene disorder; second, the main cause of mortality relates to bone marrow failure and hematopoietic cells are accessible for targeting; and third, hematopoietic stem cells transfected with the normal DKC gene would be expected to have a selective growth advantage in the hypoplastic marrow. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8616066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#46" class="mim-tip-reference" title="Nobili, B., Rossi, G., De Stefano, P., Zecca, M., Giorgiani, G., Perrotta, S., Canazzio, A., Locatelli, F. &lt;strong&gt;Successful umbilical cord blood transplantation in a child with dyskeratosis congenita after a fludarabine-based reduced-intensity conditioning regimen. (Letter)&lt;/strong&gt; Brit. J. Haemat. 119: 573-574, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12406104/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12406104&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2141.2002.03835_2.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12406104">Nobili et al. (2002)</a> summarized the results of hematopoietic stem cell transplantation in 23 DKC patients, only 4 of whom were female, suggesting that most had the X-linked form of the disorder. Allogeneic hematopoietic stem cell transplantation was the only curative approach for the severe bone marrow failure in this disorder. However, results of allograft in these patients had been relatively poor, due to the occurrence of both early and late complications, reflecting the increased sensitivity of endothelial cells to radiotherapy and alkylating agents. Interstitial and obstructive lung disease, as well as liver toxicity, had been observed in DKC patients, leading to the suggestion that radiotherapy and busulfan should be avoided in the conditioning regimens. <a href="#46" class="mim-tip-reference" title="Nobili, B., Rossi, G., De Stefano, P., Zecca, M., Giorgiani, G., Perrotta, S., Canazzio, A., Locatelli, F. &lt;strong&gt;Successful umbilical cord blood transplantation in a child with dyskeratosis congenita after a fludarabine-based reduced-intensity conditioning regimen. (Letter)&lt;/strong&gt; Brit. J. Haemat. 119: 573-574, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12406104/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12406104&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2141.2002.03835_2.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12406104">Nobili et al. (2002)</a> described a 2-year-old boy with DKC who was given cord blood transplantation from an HLA-identical sib, using a fludarabine-based nonmyeloablative conditioning regimen. Improved results were anticipated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12406104" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="inheritance" class="mim-anchor"></a>
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<div id="mimInheritanceFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#10" class="mim-tip-reference" title="Bryan, H. G., Nixon, R. K. &lt;strong&gt;Dyskeratosis congenita and familial pancytopenia.&lt;/strong&gt; JAMA 192: 203-208, 1965.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14270277/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14270277&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/jama.1965.03080160023005&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14270277">Bryan and Nixon (1965)</a> reported a pedigree with 4 and possibly 5 affected males in a relationship consistent with X-linked recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14270277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#55" class="mim-tip-reference" title="Sirinavin, C., Trowbridge, A. A. &lt;strong&gt;Dyskeratosis congenita: clinical features and genetic aspects: report of a family and review of the literature.&lt;/strong&gt; J. Med. Genet. 12: 339-354, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/768476/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;768476&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.12.4.339&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="768476">Sirinavin and Trowbridge (1975)</a> reported a particularly instructive kindred in which 9 males in 4 sibships and 3 generations were affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=768476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the Dyskeratosis Congenita Registry at the Hammersmith Hospital in London, 46 families were recruited (<a href="#35" class="mim-tip-reference" title="Knight, S., Vulliamy, T., Copplestone, A., Gluckman, E., Mason, P., Dokal, I. &lt;strong&gt;Dyskeratosis Congenita (DC) Registry: identification of new features of DC.&lt;/strong&gt; Brit. J. Haemat. 103: 990-996, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9886310/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9886310&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2141.1998.01103.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9886310">Knight et al., 1998</a>). Of 83 patients, 76 were male, suggesting that the major form of DKC is X-linked. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9886310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>X-Chromosome Inactivation</em></strong></p><p>
<a href="#21" class="mim-tip-reference" title="Ferraris, A. M., Forni, G. L., Mangerini, R., Gaetani, G. F. &lt;strong&gt;Nonrandom X-chromosome inactivation in hemopoietic cells from carriers of dyskeratosis congenita. (Letter)&lt;/strong&gt; Am. J. Hum. Genet. 61: 458-461, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9311754/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9311754&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/S0002-9297(07)64075-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9311754">Ferraris et al. (1997)</a> hypothesized that, at least in some DKC families, the selective pressure in the heterozygote might be strong enough to determine negative selection of progenitors bearing the mutant allele, resulting in extreme skewing of X-chromosome inactivation in cells of hematopoietic descent. The pattern of methylation of HpaII and HhaI sites with a highly polymorphic CAG repeat in the coding region of the first exon of the androgen receptor gene (AR; <a href="/entry/313700">313700</a>) (<a href="#4" class="mim-tip-reference" title="Allen, R. C., Zoghbi, H. Y., Moseley, A. B., Rosenblatt, H. M., Belmont, J. W. &lt;strong&gt;Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.&lt;/strong&gt; Am. J. Hum. Genet. 51: 1229-1239, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1281384/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1281384&lt;/a&gt;]" pmid="1281384">Allen et al., 1992</a>) was used in these studies. <a href="#21" class="mim-tip-reference" title="Ferraris, A. M., Forni, G. L., Mangerini, R., Gaetani, G. F. &lt;strong&gt;Nonrandom X-chromosome inactivation in hemopoietic cells from carriers of dyskeratosis congenita. (Letter)&lt;/strong&gt; Am. J. Hum. Genet. 61: 458-461, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9311754/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9311754&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/S0002-9297(07)64075-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9311754">Ferraris et al. (1997)</a> studied 2 families and found that indeed carrier females showed nonrandom X inactivation in whole blood leukocytes, granulocytes, and mononuclear cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9311754+1281384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using the methylation-sensitive HpaII site in the androgen receptor gene, <a href="#57" class="mim-tip-reference" title="Vulliamy, T. J., Knight, S. W., Dokal, I., Mason, P. J. &lt;strong&gt;Skewed X-inactivation in carriers of X-linked dyskeratosis congenita.&lt;/strong&gt; Blood 90: 2213-2216, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9310472/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9310472&lt;/a&gt;]" pmid="9310472">Vulliamy et al. (1997)</a> found that in 5 different families in which the inheritance of DKC appeared to be X-linked, all 16 carriers showed skewed X-inactivation patterns. The results indicated that in the hematopoiesis of heterozygous females cells expressing the normal allele had a growth advantage over cells that express the mutant allele. In 7 other families with sporadic cases of DKC or with an uncertain pattern of inheritance, both skewed and normal patterns of X inactivation were observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9310472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>In a large kindred with DKC, <a href="#55" class="mim-tip-reference" title="Sirinavin, C., Trowbridge, A. A. &lt;strong&gt;Dyskeratosis congenita: clinical features and genetic aspects: report of a family and review of the literature.&lt;/strong&gt; J. Med. Genet. 12: 339-354, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/768476/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;768476&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.12.4.339&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="768476">Sirinavin and Trowbridge (1975)</a> excluded close linkage with the Xg locus. <a href="#27" class="mim-tip-reference" title="Gutman, A., Frumkin, A., Adam, A., Bloch-Shatacher, N., Rosenszajn, L. A. &lt;strong&gt;X-linked dyskeratosis congenita with pancytopenia.&lt;/strong&gt; Arch. Derm. 114: 1667-1671, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/568915/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;568915&lt;/a&gt;]" pmid="568915">Gutman et al. (1978)</a> observed 2 maternal male cousins. Linkage analysis indicated that dyskeratosis, Xg, and G6PD (<a href="/entry/305900">305900</a>) are far apart. In an extensively affected kindred, <a href="#15" class="mim-tip-reference" title="Connor, J. M., Teague, R. H. &lt;strong&gt;Dyskeratosis congenita: report of a large kindred.&lt;/strong&gt; Brit. J. Derm. 105: 321-325, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7272212/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7272212&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2133.1981.tb01292.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7272212">Connor and Teague (1981)</a> excluded close linkage to Xg. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=768476+568915+7272212" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Connor, J. M., Gatherer, D., Gray, F. C., Pirrit, L. A., Affara, N. A. &lt;strong&gt;Assignment of the gene for dyskeratosis congenita to Xq28.&lt;/strong&gt; Hum. Genet. 72: 348-351, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3009302/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3009302&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00290963&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3009302">Connor et al. (1986)</a> assigned DKC to chromosome Xq28 by linkage of DNA markers. Its relationships to other loci in this segment were not determined. <a href="#5" class="mim-tip-reference" title="Arngrimsson, R., Dokal, I., Luzzatto, L., Connor, J. M. &lt;strong&gt;Dyskeratosis congenita: three additional families show linkage to a locus in Xq28.&lt;/strong&gt; J. Med. Genet. 30: 618-619, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8105085/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8105085&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.30.7.618&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8105085">Arngrimsson et al. (1993)</a> confirmed the linkage with study of 3 further families, which brought the maximum lod score for DKC and DXS52 to 5.33 at zero recombination. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3009302+8105085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#37" class="mim-tip-reference" title="Knight, S. W., Vulliamy, T., Forni, G. L., Oscier, D., Mason, P. J., Dokal, I. &lt;strong&gt;Fine mapping of the dyskeratosis congenita locus in Xq28.&lt;/strong&gt; J. Med. Genet. 33: 993-995, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9004129/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9004129&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.33.12.993&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9004129">Knight et al. (1996)</a> studied 5 families with additional Xq28 polymorphic markers and concluded that the DKC locus is between GABRA3 (<a href="/entry/305660">305660</a>) and DXS1108, an interval of approximately 4 Mb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9004129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Devriendt, K., Matthijs, G., Legius, E., Schollen, E., Blockmans, D., van Geet, C., Degreef, H., Cassiman, J.-J., Fryns, J.-P. &lt;strong&gt;Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.&lt;/strong&gt; Am. J. Hum. Genet. 60: 581-587, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9042917/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9042917&lt;/a&gt;]" pmid="9042917">Devriendt et al. (1997)</a> reported that dyskeratosis congenita was quite clearly X-linked because linkage analysis with markers in the factor VIII gene (F8; <a href="/entry/300841">300841</a>) at chromosome Xq28 yielded a lod score of 2.o at a recombination of 0.0, and clinical manifestations of DKC were present in 2 obligate carrier females, e.g., skin lesions following the Blaschko lines. Highly skewed X inactivation was observed in white blood cells, cultured skin fibroblasts, and buccal mucosa from female carriers of DKC in this family. The skewing suggested a critical role for the DKC gene in proliferation of fibroblasts and bone marrow cells. <a href="#18" class="mim-tip-reference" title="Devriendt, K., Matthijs, G., Legius, E., Schollen, E., Blockmans, D., van Geet, C., Degreef, H., Cassiman, J.-J., Fryns, J.-P. &lt;strong&gt;Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.&lt;/strong&gt; Am. J. Hum. Genet. 60: 581-587, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9042917/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9042917&lt;/a&gt;]" pmid="9042917">Devriendt et al. (1997)</a> presented photographs of the linear skin lesions of the palmar aspects of the hands. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9042917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>In patients with X-linked DKC, <a href="#28" class="mim-tip-reference" title="Heiss, N. S., Knight, S. W., Vulliamy, T. J., Klauck, S. M., Wiemann, S., Mason, P. J., Poustka, A., Dokal, I. &lt;strong&gt;X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.&lt;/strong&gt; Nature Genet. 19: 32-38, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9590285/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9590285&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0598-32&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9590285">Heiss et al. (1998)</a> identified 5 different mutations in the DKC1 gene (<a href="/entry/300126#0001">300126.0001</a>-<a href="/entry/300126#0005">300126.0005</a>). Three families had previously been reported: <a href="#14" class="mim-tip-reference" title="Connor, J. M., Gatherer, D., Gray, F. C., Pirrit, L. A., Affara, N. A. &lt;strong&gt;Assignment of the gene for dyskeratosis congenita to Xq28.&lt;/strong&gt; Hum. Genet. 72: 348-351, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3009302/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3009302&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00290963&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3009302">Connor et al. (1986)</a> (P40R; <a href="/entry/300126#0003">300126.0003</a>); <a href="#19" class="mim-tip-reference" title="Dokal, I., Bungey, J., Williamson, P., Oscier, D., Hows, J., Luzzatto, L. &lt;strong&gt;Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements.&lt;/strong&gt; Blood 80: 3090-3096, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1361371/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1361371&lt;/a&gt;]" pmid="1361371">Dokal et al. (1992)</a> (G402Q; <a href="/entry/300126#0005">300126.0005</a>); and <a href="#18" class="mim-tip-reference" title="Devriendt, K., Matthijs, G., Legius, E., Schollen, E., Blockmans, D., van Geet, C., Degreef, H., Cassiman, J.-J., Fryns, J.-P. &lt;strong&gt;Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.&lt;/strong&gt; Am. J. Hum. Genet. 60: 581-587, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9042917/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9042917&lt;/a&gt;]" pmid="9042917">Devriendt et al. (1997)</a> (F36V; <a href="/entry/300126#0001">300126.0001</a>). As a result of large-scale positional cloning and sequencing of the region of Xq28 containing the DKC1 gene, virtually all DKC positional candidates had been identified. By hybridization screening with 28 candidate cDNAs, <a href="#28" class="mim-tip-reference" title="Heiss, N. S., Knight, S. W., Vulliamy, T. J., Klauck, S. M., Wiemann, S., Mason, P. J., Poustka, A., Dokal, I. &lt;strong&gt;X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.&lt;/strong&gt; Nature Genet. 19: 32-38, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9590285/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9590285&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0598-32&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9590285">Heiss et al. (1998)</a> detected a 3-prime deletion in 1 DKC patient with a cDNA probe derived from XAP101. They subsequently identified 5 different missense mutations in 5 unrelated patients in the XAP101 (DKC1) gene. DKC1 is highly conserved across species barriers and is the ortholog of rat NAP57 and S. cerevisiae CBF5. The peptide, referred to as dyskerin, was found to contain 2 TruB pseudouridine synthase motifs, multiple phosphorylation sites, and a carboxy-terminal lysine-rich repeat domain. By analogy to the function of the known dyskerin orthologs, involvement in the cell cycle and nucleolar function was predicted for the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9590285+9042917+1361371+3009302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Because of phenotypic similarities between HHS and DKC, <a href="#36" class="mim-tip-reference" title="Knight, S. W., Heiss, N. S., Vulliamy, T. J., Aalfs, C. M., McMahon, C., Richmond, P., Jones, A., Hennekam, R. C. M., Poustka, A., Mason, P. J., Dokal, I. &lt;strong&gt;Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.&lt;/strong&gt; Brit. J. Haemat. 107: 335-339, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10583221/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10583221&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2141.1999.01690.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10583221">Knight et al. (1999)</a> hypothesized that both disorders might be caused by mutation in the same gene. In the family reported by <a href="#2" class="mim-tip-reference" title="Aalfs, C. M., van den Berg, H., Barth, P. G., Hennekam, R. C. M. &lt;strong&gt;The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia.&lt;/strong&gt; Europ. J. Pediat. 154: 304-308, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7607282/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7607282&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01957367&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7607282">Aalfs et al. (1995)</a> and another family segregating HHS, <a href="#36" class="mim-tip-reference" title="Knight, S. W., Heiss, N. S., Vulliamy, T. J., Aalfs, C. M., McMahon, C., Richmond, P., Jones, A., Hennekam, R. C. M., Poustka, A., Mason, P. J., Dokal, I. &lt;strong&gt;Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.&lt;/strong&gt; Brit. J. Haemat. 107: 335-339, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10583221/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10583221&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2141.1999.01690.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10583221">Knight et al. (1999)</a> identified mutations in the DKC1 gene (<a href="/entry/300126#0010">300126.0010</a>-<a href="/entry/300126#0011">300126.0011</a>), demonstrating that HHS is a severe variant of dyskeratosis congenita. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10583221+7607282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#62" class="mim-tip-reference" title="Yaghmai, R., Kimyai-Asadi, A., Rostamiani, K., Heiss, N. S., Poustka, A., Eyaid, W., Bodurtha, J., Nousari, H. C., Hamosh, A., Metzenberg, A. &lt;strong&gt;Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.&lt;/strong&gt; J. Pediat. 136: 390-393, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10700698/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10700698&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1067/mpd.2000.104295&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10700698">Yaghmai et al. (2000)</a> reported a patient with striking features of both Hoyeraal-Hreidarsson syndrome and DKC who carried an ala353-to-val mutation in the DKC1 gene (<a href="/entry/300126#0006">300126.0006</a>). <a href="#62" class="mim-tip-reference" title="Yaghmai, R., Kimyai-Asadi, A., Rostamiani, K., Heiss, N. S., Poustka, A., Eyaid, W., Bodurtha, J., Nousari, H. C., Hamosh, A., Metzenberg, A. &lt;strong&gt;Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.&lt;/strong&gt; J. Pediat. 136: 390-393, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10700698/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10700698&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1067/mpd.2000.104295&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10700698">Yaghmai et al. (2000)</a> concluded that HHS may be a severe form of DKC in which affected individuals die before characteristic mucocutaneous features develop. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="pathogenesis" class="mim-anchor"></a>
<h4 href="#mimPathogenesisFold" id="mimPathogenesisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimPathogenesisToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Pathogenesis</strong>
</span>
</h4>
</div>
<div id="mimPathogenesisFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#43" class="mim-tip-reference" title="Mitchell, J. R., Wood, E., Collins, K. &lt;strong&gt;A telomerase component is defective in the human disease dyskeratosis congenita.&lt;/strong&gt; Nature 402: 551-555, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10591218/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10591218&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/990141&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10591218">Mitchell et al. (1999)</a> demonstrated that dyskerin is associated not only with H/ACA small nucleolar RNAs but also with human telomerase RNA (TERC; <a href="/entry/602322">602322</a>), which contains an H/ACA RNA motif. Telomerase adds simple sequence repeats to chromosome ends using an internal region of its RNA as a template and is required for the proliferation of primary human cells. <a href="#43" class="mim-tip-reference" title="Mitchell, J. R., Wood, E., Collins, K. &lt;strong&gt;A telomerase component is defective in the human disease dyskeratosis congenita.&lt;/strong&gt; Nature 402: 551-555, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10591218/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10591218&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/990141&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10591218">Mitchell et al. (1999)</a> found that primary fibroblasts and lymphoblasts from DKC-affected males were not detectably deficient in conventional H/ACA small nucleolar RNA accumulation or function. However, DKC cells had a lower level of telomerase RNA, produced lower levels of telomerase activity than matched normal cells, and had shorter telomeres. <a href="#43" class="mim-tip-reference" title="Mitchell, J. R., Wood, E., Collins, K. &lt;strong&gt;A telomerase component is defective in the human disease dyskeratosis congenita.&lt;/strong&gt; Nature 402: 551-555, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10591218/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10591218&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/990141&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10591218">Mitchell et al. (1999)</a> concluded that the pathology of DKC is consistent with compromised telomerase function leading to a defect in telomere maintenance, which may limit the proliferative capacity of human somatic cells in epithelia and blood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10591218" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#44" class="mim-tip-reference" title="Montanaro, L., Chilla, A., Trere, D., Pession, A., Govoni, M., Tazzari, P. L, Derenzini, M. &lt;strong&gt;Increased mortality rate and not impaired ribosomal biogenesis is responsible for proliferative defect in dyskeratosis congenita cell lines.&lt;/strong&gt; J. Invest. Derm. 118: 193-198, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11851894/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11851894&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.0022-202x.2001.01634.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11851894">Montanaro et al. (2002)</a> observed that in lymphoblastoid cell lines from patients with dyskeratosis congenita, rRNA transcription and maturation and proliferative capability remained unimpaired. Increasing the number of cell cycles led to a steep rise in the apoptotic fraction of dyskeratosis congenita cells. These findings demonstrated that whereas dyskeratosis congenita cell lines do not display proliferation defects, they do show progressively increasing levels of apoptosis in relation to the number of cell divisions. This observation is consistent with the delayed onset of dyskeratosis congenita proliferating-tissue defects, which do not emerge during embryonal development as would be expected with ribosomal biogenesis alterations, and with the increasing severity of the proliferating-tissue defects over time. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11851894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#61" class="mim-tip-reference" title="Wong, J. M. Y., Collins, K. &lt;strong&gt;Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita.&lt;/strong&gt; Genes Dev. 20: 2848-2858, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17015423/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17015423&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=17015423[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1101/gad.1476206&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17015423">Wong and Collins (2006)</a> found that primary dermal fibroblasts cultured from a DKC patient underwent premature senescence, consistent with the presence of short telomeres, compared with dermal fibroblasts cultured from his asymptomatic maternal grandmother. Expression of exogenous TERT (<a href="/entry/187270">187270</a>) from a retroviral vector increased telomerase activity in DKC patient cells, resulting in increased steady-state levels of TERC and elimination of premature senescence, but did not confer telomere length maintenance. DKC patient cells expressing both TERT and TERC from a single retroviral vector gained and maintained long telomeres. Following rescue from premature senescence, DKC patient cells from 2 different families had normal levels of rRNA pseudouridine modification and no dramatic delay in rRNA precursor processing, in contrast with phenotypes reported for mouse models of DKC. <a href="#61" class="mim-tip-reference" title="Wong, J. M. Y., Collins, K. &lt;strong&gt;Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita.&lt;/strong&gt; Genes Dev. 20: 2848-2858, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17015423/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17015423&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=17015423[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1101/gad.1476206&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17015423">Wong and Collins (2006)</a> concluded that defects in DKC patient cells arise solely from reduced accumulation of TERC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17015423" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using an unbiased proteomics strategy, <a href="#63" class="mim-tip-reference" title="Yoon, A., Peng, G., Brandenburger, Y., Zollo, O., Xu, W., Rego, E., Ruggero, D. &lt;strong&gt;Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita.&lt;/strong&gt; Science 312: 902-905, 2006. Note: Erratum: Science 313: 1238 only, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16690864/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16690864&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1123835&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16690864">Yoon et al. (2006)</a> discovered a specific defect in IRES (internal ribosome entry site)-dependent translation in Dkc1 mutated mice and in cells from X-linked dyskeratosis congenita patients. This defect results in impaired translation of mRNAs containing IRES elements, including those encoding the tumor suppressor p27(Kip1) (CDKN1B; <a href="/entry/600778">600778</a>) and the antiapoptotic factors Bcl-xl (BCL2L1; <a href="/entry/600039">600039</a>) and XIAP (<a href="/entry/300079">300079</a>). Moreover, ribosomes from Dkc1 mutant mice were unable to direct translation from IRES elements present in viral mRNAs. <a href="#63" class="mim-tip-reference" title="Yoon, A., Peng, G., Brandenburger, Y., Zollo, O., Xu, W., Rego, E., Ruggero, D. &lt;strong&gt;Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita.&lt;/strong&gt; Science 312: 902-905, 2006. Note: Erratum: Science 313: 1238 only, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16690864/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16690864&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1123835&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16690864">Yoon et al. (2006)</a> concluded that their findings revealed a potential mechanism by which defective ribosome activity leads to disease and cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16690864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Batista, L. F. Z., Pech, M. F., Zhong, F. L., Nguyen, H. N., Xie, K. T., Zaug, A. J., Crary, S. M., Choi, J., Sebastiano, V., Cherry, A., Giri, N., Wernig, M., Alter, B. P., Cech, T. R., Savage, S. A., Pera, R. A. R., Artandi, S. E. &lt;strong&gt;Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.&lt;/strong&gt; Nature 474: 399-402, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21602826/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21602826&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21602826[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nature10084&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21602826">Batista et al. (2011)</a> showed that even in the undifferentiated state, induced pluripotent stem cells (iPSCs) from dyskeratosis congenita patients harbor the precise biochemical defects characteristic of each form of the disease and that the magnitude of the telomere maintenance defect in iPSCs correlates with clinical severity. In iPSCs from patients with heterozygous mutations in TERT, the telomerase reverse transcriptase, a 50% reduction in telomerase levels blunts the natural telomere elongation that accompanies reprogramming. In contrast, mutation of dyskerin (DKC1; <a href="/entry/300126">300126</a>) in X-linked dyskeratosis congenita severely impairs telomerase activity by blocking telomerase assembly and disrupts telomere elongation during reprogramming. In iPSCs from a form of dyskeratosis congenita caused by mutations in TCAB1 (also known as WRAP53, <a href="/entry/612661">612661</a>), telomerase catalytic activity is unperturbed, yet the ability of telomerase to lengthen telomeres is abrogated, since telomerase mislocalizes from Cajal bodies to nucleoli within the iPSCs. Extended culture of DKC1-mutant iPSCs leads to progressive telomere shortening and eventual loss of self-renewal, indicating that a similar process occurs in tissue stem cells in dyskeratosis congenita patients. Their findings in iPSCs from dyskeratosis congenita patients led <a href="#6" class="mim-tip-reference" title="Batista, L. F. Z., Pech, M. F., Zhong, F. L., Nguyen, H. N., Xie, K. T., Zaug, A. J., Crary, S. M., Choi, J., Sebastiano, V., Cherry, A., Giri, N., Wernig, M., Alter, B. P., Cech, T. R., Savage, S. A., Pera, R. A. R., Artandi, S. E. &lt;strong&gt;Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.&lt;/strong&gt; Nature 474: 399-402, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21602826/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21602826&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21602826[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nature10084&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21602826">Batista et al. (2011)</a> to conclude that undifferentiated iPSCs accurately recapitulate features of a human stem cell disease and may serve as a cell culture-based system for the development of targeted therapeutics. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21602826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="history" class="mim-anchor"></a>
<h4 href="#mimHistoryFold" id="mimHistoryToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimHistoryToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<div id="mimHistoryFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#42" class="mim-tip-reference" title="Milgrom, H., Stoll, H. L., Jr., Crissey, J. T. &lt;strong&gt;Dyskeratosis congenita: a case with new features.&lt;/strong&gt; Arch. Derm. 89: 345-349, 1964.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14096348/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14096348&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archderm.1964.01590270031007&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14096348">Milgrom et al. (1964)</a> described a black male with dyskeratosis congenita. They pointed out that the 2 serious complications are anemia and cancer, which can develop in the leukoplakia of the anus or mouth or in the skin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14096348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#54" class="mim-tip-reference" title="Selmanowitz, V. J., van Voolen, G. A. &lt;strong&gt;Fanconi&#x27;s anemia and dyskeratosis congenita. (Letter)&lt;/strong&gt; JAMA 216: 2015 only, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5108638/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5108638&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/jama.1971.03180380069022&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5108638">Selmanowitz and van Voolen (1971)</a> pointed out the phenotypic overlap with Fanconi anemia (see <a href="/entry/227650">227650</a>) and raised the question whether Fanconi anemia and dyskeratosis congenita might be causally related. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5108638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>See Also:</strong>
</span>
</h4>
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<a href="#Carter1978" class="mim-tip-reference" title="Carter, D. M., Pan, M., Gaynor, A., Sibrack, L., McGuire, J. S. &lt;strong&gt;Delayed excision of psoralen-DNA cross-linking photoadducts in dyskeratosis congenita. (Abstract)&lt;/strong&gt; Clin. Res. 26: 568A only, 1978.">Carter et al. (1978)</a>; <a href="#Civatte1978" class="mim-tip-reference" title="Civatte, J., Belaich, S., Pluquet, C. &lt;strong&gt;Syndrome de Zinsser-Cole-Engman, incomplet chez deux freres.&lt;/strong&gt; Ann. Derm. Venereol. 105: 1071-1072, 1978.">Civatte et al. (1978)</a>; <a href="#Friedland1985" class="mim-tip-reference" title="Friedland, M., Lutton, J. D., Spitzer, R., Levere, R. D. &lt;strong&gt;Dyskeratosis congenita with hyoplastic anemia: a stem cell defect.&lt;/strong&gt; Am. J. Hemat. 20: 85-87, 1985.">Friedland et al. (1985)</a>; <a href="#Garb1958" class="mim-tip-reference" title="Garb, J. &lt;strong&gt;Dyskeratosis congenita with pigmentation, dystrophia unguium and leukoplakia oris.&lt;/strong&gt; AMA Arch. Derm. 77: 704-712, 1958.">Garb (1958)</a>; <a href="#Giannetti1980" class="mim-tip-reference" title="Giannetti, A., Seidenari, S. &lt;strong&gt;Deficit of cell-mediated immunity, chromosomal alterations and defective DNA repair in a case of dyskeratosis congenita.&lt;/strong&gt; Dermatologica 160: 113-117, 1980.">Giannetti and Seidenari (1980)</a>; <a href="#Inoue1973" class="mim-tip-reference" title="Inoue, S., Mekanik, G., Mahallati, M., Zuelzer, W. W. &lt;strong&gt;Dyskeratosis congenita with pancytopenia: another constitutional anemia.&lt;/strong&gt; Am. J. Dis. Child. 126: 389-393, 1973.">Inoue et al. (1973)</a>; <a href="#Koszewski1956" class="mim-tip-reference" title="Koszewski, B. J., Hubbard, T. F. &lt;strong&gt;Congenital anemia in hereditary ectodermal dysplasia.&lt;/strong&gt; AMA Arch. Derm. 74: 159-166, 1956.">Koszewski and Hubbard (1956)</a>; <a href="#Steier1972" class="mim-tip-reference" title="Steier, W., van Voolen, G. A., Selmanowitz, V. J. &lt;strong&gt;Dyskeratosis congenita: relationship to Fanconi&#x27;s anemia.&lt;/strong&gt; Blood 39: 510-521, 1972.">Steier et al. (1972)</a>; <a href="#Wiedemann1984" class="mim-tip-reference" title="Wiedemann, H. P., McGuire, J., Dwyer, J. M., Sabetta, J., Gee, J. B. L., Smith, G. J. W., Loke, J. &lt;strong&gt;Progressive immune failure in dyskeratosis congenita: report of an adult in whom Pneumocystis carinii and fatal disseminated candidiasis developed.&lt;/strong&gt; Arch. Intern. Med. 144: 397-399, 1984.">Wiedemann et al.
(1984)</a>
</span>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Aalfs1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Aalfs, C. M., Hennekam, R. C. M.
<strong>Differences between the Hoyeraal-Hreidarsson syndrome and an autosomal recessive congenital intrauterine infection-like syndrome. (Letter)</strong>
Am. J. Med. Genet. 58: 385 only, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8533857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8533857</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8533857" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320580423" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Aalfs1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Aalfs, C. M., van den Berg, H., Barth, P. G., Hennekam, R. C. M.
<strong>The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia.</strong>
Europ. J. Pediat. 154: 304-308, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7607282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7607282</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7607282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF01957367" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="3" class="mim-anchor"></a>
<a id="Alder2013" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Alder, J. K., Parry, E. M., Yegnasubramanian, S., Wagner, C. L., Lieblich, L. M., Auerbach, R., Auerbach, A. D., Wheelan, S. J., Armanios, M.
<strong>Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.</strong>
Hum. Mutat. 34: 1481-1485, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23946118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23946118</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23946118[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23946118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.22397" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Allen1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Allen, R. C., Zoghbi, H. Y., Moseley, A. B., Rosenblatt, H. M., Belmont, J. W.
<strong>Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.</strong>
Am. J. Hum. Genet. 51: 1229-1239, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1281384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1281384</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1281384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Arngrimsson1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Arngrimsson, R., Dokal, I., Luzzatto, L., Connor, J. M.
<strong>Dyskeratosis congenita: three additional families show linkage to a locus in Xq28.</strong>
J. Med. Genet. 30: 618-619, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8105085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8105085</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8105085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.30.7.618" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Batista2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Batista, L. F. Z., Pech, M. F., Zhong, F. L., Nguyen, H. N., Xie, K. T., Zaug, A. J., Crary, S. M., Choi, J., Sebastiano, V., Cherry, A., Giri, N., Wernig, M., Alter, B. P., Cech, T. R., Savage, S. A., Pera, R. A. R., Artandi, S. E.
<strong>Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.</strong>
Nature 474: 399-402, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21602826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21602826</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21602826[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21602826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/nature10084" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Berthet1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Berthet, F., Caduff, R., Schaad, U. B., Roten, H., Tuchschmid, P., Boltshauser, E., Seger, R. A.
<strong>A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia.</strong>
Europ. J. Pediat. 153: 333-338, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8033921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8033921</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8033921" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF01956413" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Berthet1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Berthet, F., Tuchschmid, P., Boltshauser, E., Seger, R. A.
<strong>The Hoyeraal-Hreidarsson syndrome: don't forget the associated immunodeficiency. (Letter)</strong>
Europ. J. Pediat. 154: 998, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8801113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8801113</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8801113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF01958649" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Berthou1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Berthou, C., Devergie, A., D'Agay, M. F., Sonsino, E., Scrobohaci, M. L., Loirat, C., Gluckman, E.
<strong>Late vascular complications after bone marrow transplantation for dyskeratosis congenita.</strong>
Brit. J. Haemat. 79: 335-336, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1958493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1958493</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1958493" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1365-2141.1991.tb04543.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Bryan1965" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bryan, H. G., Nixon, R. K.
<strong>Dyskeratosis congenita and familial pancytopenia.</strong>
JAMA 192: 203-208, 1965.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14270277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14270277</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14270277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/jama.1965.03080160023005" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Carter1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Carter, D. M., Pan, M., Gaynor, A., Sibrack, L., McGuire, J. S.
<strong>Delayed excision of psoralen-DNA cross-linking photoadducts in dyskeratosis congenita. (Abstract)</strong>
Clin. Res. 26: 568A only, 1978.
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Caux1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Caux, F., Aractingi, S., Sawaf, M. H., Ouhayoun, J.-P., Dubertret, L., Gluckman, E.
<strong>Dyskeratosis congenita.</strong>
Europ. J. Derm. 6: 332-334, 1996.
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="Civatte1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Civatte, J., Belaich, S., Pluquet, C.
<strong>Syndrome de Zinsser-Cole-Engman, incomplet chez deux freres.</strong>
Ann. Derm. Venereol. 105: 1071-1072, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/753120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">753120</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=753120" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="Connor1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Connor, J. M., Gatherer, D., Gray, F. C., Pirrit, L. A., Affara, N. A.
<strong>Assignment of the gene for dyskeratosis congenita to Xq28.</strong>
Hum. Genet. 72: 348-351, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3009302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3009302</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3009302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00290963" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="15" class="mim-anchor"></a>
<a id="Connor1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Connor, J. M., Teague, R. H.
<strong>Dyskeratosis congenita: report of a large kindred.</strong>
Brit. J. Derm. 105: 321-325, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7272212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7272212</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7272212" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1365-2133.1981.tb01292.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Davidson1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Davidson, H. R., Connor, J. M.
<strong>Dyskeratosis congenita.</strong>
J. Med. Genet. 25: 843-846, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3236366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3236366</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3236366" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.25.12.843" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="DeBauche1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
DeBauche, D. M., Pai, G. S., Stanley, W. S.
<strong>Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts.</strong>
Am. J. Hum. Genet. 46: 350-357, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2301400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2301400</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2301400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="Devriendt1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Devriendt, K., Matthijs, G., Legius, E., Schollen, E., Blockmans, D., van Geet, C., Degreef, H., Cassiman, J.-J., Fryns, J.-P.
<strong>Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.</strong>
Am. J. Hum. Genet. 60: 581-587, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9042917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9042917</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9042917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="19" class="mim-anchor"></a>
<a id="Dokal1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dokal, I., Bungey, J., Williamson, P., Oscier, D., Hows, J., Luzzatto, L.
<strong>Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements.</strong>
Blood 80: 3090-3096, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1361371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1361371</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1361371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Dokal1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dokal, I.
<strong>Dyskeratosis congenita: an inherited bone marrow failure syndrome.</strong>
Brit. J. Haemat. 92: 775-779, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8616066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8616066</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8616066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1046/j.1365-2141.1996.355881.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="Ferraris1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ferraris, A. M., Forni, G. L., Mangerini, R., Gaetani, G. F.
<strong>Nonrandom X-chromosome inactivation in hemopoietic cells from carriers of dyskeratosis congenita. (Letter)</strong>
Am. J. Hum. Genet. 61: 458-461, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9311754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9311754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9311754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/S0002-9297(07)64075-0" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Forni1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Forni, G. L., Melevendi, C., Jappelli, S., Rasore-Quartino, A.
<strong>Dyskeratosis congenita: unusual presenting features within a kindred.</strong>
Pediat. Hemat. Oncol. 10: 145-149, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8318369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8318369</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8318369" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.3109/08880019309016548" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="23" class="mim-anchor"></a>
<a id="Friedland1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Friedland, M., Lutton, J. D., Spitzer, R., Levere, R. D.
<strong>Dyskeratosis congenita with hyoplastic anemia: a stem cell defect.</strong>
Am. J. Hemat. 20: 85-87, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4025322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4025322</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4025322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajh.2830200112" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Garb1958" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Garb, J.
<strong>Dyskeratosis congenita with pigmentation, dystrophia unguium and leukoplakia oris.</strong>
AMA Arch. Derm. 77: 704-712, 1958.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13544605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13544605</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13544605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archderm.1958.01560060070012" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="25" class="mim-anchor"></a>
<a id="Giannetti1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Giannetti, A., Seidenari, S.
<strong>Deficit of cell-mediated immunity, chromosomal alterations and defective DNA repair in a case of dyskeratosis congenita.</strong>
Dermatologica 160: 113-117, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7351274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7351274</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7351274" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1159/000250482" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="26" class="mim-anchor"></a>
<a id="Gorgy2015" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gorgy, A. I., Jonassaint, N. L., Stanley, S. E., Koteish, A., DeZern, A. E., Walter, J. E., Sopha, S. C., Hamilton, J. P., Hoover-Fong, J., Chen, A. R., Anders, R. A., Kamel, I. R., Armanios, M.
<strong>Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders.</strong>
Chest 148: 1019-1026, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26158642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26158642</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26158642[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26158642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1378/chest.15-0825" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="27" class="mim-anchor"></a>
<a id="Gutman1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gutman, A., Frumkin, A., Adam, A., Bloch-Shatacher, N., Rosenszajn, L. A.
<strong>X-linked dyskeratosis congenita with pancytopenia.</strong>
Arch. Derm. 114: 1667-1671, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/568915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">568915</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=568915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="28" class="mim-anchor"></a>
<a id="Heiss1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Heiss, N. S., Knight, S. W., Vulliamy, T. J., Klauck, S. M., Wiemann, S., Mason, P. J., Poustka, A., Dokal, I.
<strong>X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.</strong>
Nature Genet. 19: 32-38, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9590285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9590285</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9590285" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng0598-32" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="29" class="mim-anchor"></a>
<a id="Hoyeraal1970" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hoyeraal, H. M., Lamvik, J., Moe, P. J.
<strong>Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers.</strong>
Acta Paediat. Scand. 59: 185-191, 1970.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5442429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5442429</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5442429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1651-2227.1970.tb08986.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="30" class="mim-anchor"></a>
<a id="Hreidarsson1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hreidarsson, S., Kristjansson, K., Johannesson, G., Johannsson, J. H.
<strong>A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure.</strong>
Acta Paediat. Scand. 77: 773-775, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3201986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3201986</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3201986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1651-2227.1988.tb10751.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="31" class="mim-anchor"></a>
<a id="Inoue1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Inoue, S., Mekanik, G., Mahallati, M., Zuelzer, W. W.
<strong>Dyskeratosis congenita with pancytopenia: another constitutional anemia.</strong>
Am. J. Dis. Child. 126: 389-393, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4746551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4746551</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4746551" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archpedi.1973.02110190337020" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="32" class="mim-anchor"></a>
<a id="Jonassaint2013" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Jonassaint, N. L., Guo, N., Califano, J. A., Montgomery, E. A., Armanios, M.
<strong>The gastrointestinal manifestations of telomere-mediated disease.</strong>
Aging Cell 12: 319-323, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23279657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23279657</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23279657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/acel.12041" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="33" class="mim-anchor"></a>
<a id="Kalb1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kalb, R. E., Grossman, M. E., Hutt, C.
<strong>Avascular necrosis of bone in dyskeratosis congenita.</strong>
Am. J. Med. 80: 511-513, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3953626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3953626</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3953626" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9343(86)90730-8" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="34" class="mim-anchor"></a>
<a id="Kirwan2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kirwan, M., Dokal, I.
<strong>Dyskeratosis congenita: a genetic disorder of many faces.</strong>
Clin. Genet. 73: 103-112, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18005359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18005359</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18005359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2007.00923.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="35" class="mim-anchor"></a>
<a id="Knight1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Knight, S., Vulliamy, T., Copplestone, A., Gluckman, E., Mason, P., Dokal, I.
<strong>Dyskeratosis Congenita (DC) Registry: identification of new features of DC.</strong>
Brit. J. Haemat. 103: 990-996, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9886310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9886310</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9886310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1046/j.1365-2141.1998.01103.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="36" class="mim-anchor"></a>
<a id="Knight1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Knight, S. W., Heiss, N. S., Vulliamy, T. J., Aalfs, C. M., McMahon, C., Richmond, P., Jones, A., Hennekam, R. C. M., Poustka, A., Mason, P. J., Dokal, I.
<strong>Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.</strong>
Brit. J. Haemat. 107: 335-339, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10583221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10583221</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10583221" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1046/j.1365-2141.1999.01690.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="37" class="mim-anchor"></a>
<a id="Knight1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Knight, S. W., Vulliamy, T., Forni, G. L., Oscier, D., Mason, P. J., Dokal, I.
<strong>Fine mapping of the dyskeratosis congenita locus in Xq28.</strong>
J. Med. Genet. 33: 993-995, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9004129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9004129</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9004129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.33.12.993" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="38" class="mim-anchor"></a>
<a id="Koszewski1956" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Koszewski, B. J., Hubbard, T. F.
<strong>Congenital anemia in hereditary ectodermal dysplasia.</strong>
AMA Arch. Derm. 74: 159-166, 1956.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13353988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13353988</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13353988" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archderm.1956.01550080045007" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="39" class="mim-anchor"></a>
<a id="Mahmood1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mahmood, F., King, M. D., Smyth, O. P., Farrell, M. A.
<strong>Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages.</strong>
Neuropediatrics 29: 302-306, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10029349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10029349</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10029349" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1055/s-2007-973582" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="40" class="mim-anchor"></a>
<a id="Marsh1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Marsh, J. C. W., Will, A. J., Hows, J. M., Sartori, P., Darbyshire, P. J., Williamson, P. J., Oscier, D. G., Dexter, T. M., Testa, N. G.
<strong>'Stem cell' origin of the hematopoietic defect in dyskeratosis congenita.</strong>
Blood 79: 3138-3144, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1596563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1596563</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1596563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="41" class="mim-anchor"></a>
<a id="Merchant1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Merchant, A., Zhao, T.-Z., Foster, C. S.
<strong>Chronic keratoconjunctivitis associated with congenital dyskeratosis and erythrokeratodermia variablis (sic): two rare genodermatoses.</strong>
Ophthalmology 105: 1286-1291, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9663235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9663235</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9663235" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/S0161-6420(98)97035-X" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="42" class="mim-anchor"></a>
<a id="Milgrom1964" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Milgrom, H., Stoll, H. L., Jr., Crissey, J. T.
<strong>Dyskeratosis congenita: a case with new features.</strong>
Arch. Derm. 89: 345-349, 1964.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14096348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14096348</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14096348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archderm.1964.01590270031007" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="43" class="mim-anchor"></a>
<a id="Mitchell1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mitchell, J. R., Wood, E., Collins, K.
<strong>A telomerase component is defective in the human disease dyskeratosis congenita.</strong>
Nature 402: 551-555, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10591218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10591218</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10591218" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/990141" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="44" class="mim-anchor"></a>
<a id="Montanaro2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Montanaro, L., Chilla, A., Trere, D., Pession, A., Govoni, M., Tazzari, P. L, Derenzini, M.
<strong>Increased mortality rate and not impaired ribosomal biogenesis is responsible for proliferative defect in dyskeratosis congenita cell lines.</strong>
J. Invest. Derm. 118: 193-198, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11851894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11851894</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11851894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1046/j.0022-202x.2001.01634.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="45" class="mim-anchor"></a>
<a id="Ning1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ning, Y., Yongshan, Y., Pai, G. S., Gross, A. J.
<strong>Heterozygote detection through bleomycin-induced G(2) chromatid breakage in dyskeratosis congenita families.</strong>
Cancer Genet. Cytogenet. 60: 31-34, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1375530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1375530</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1375530" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0165-4608(92)90229-2" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="46" class="mim-anchor"></a>
<a id="Nobili2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Nobili, B., Rossi, G., De Stefano, P., Zecca, M., Giorgiani, G., Perrotta, S., Canazzio, A., Locatelli, F.
<strong>Successful umbilical cord blood transplantation in a child with dyskeratosis congenita after a fludarabine-based reduced-intensity conditioning regimen. (Letter)</strong>
Brit. J. Haemat. 119: 573-574, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12406104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12406104</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12406104" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1046/j.1365-2141.2002.03835_2.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="47" class="mim-anchor"></a>
<a id="Ohga1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ohga, S., Kai, T., Honada, K., Nakayama, H., Inamitsu, T., Ueda, K.
<strong>What are the essential symptoms in the Hoyeraal-Hreidarsson syndrome? (Letter)</strong>
Europ. J. Pediat. 156: 80-81, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9007502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9007502</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9007502" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="48" class="mim-anchor"></a>
<a id="Parry2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Parry, E. M., Alder, J. K., Lee, S. S., Phillips, J. A., III, Loyd, J. E., Duggal, P., Armanios, M.
<strong>Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita.</strong>
J. Med. Genet. 48: 327-333, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21415081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21415081</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21415081[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21415081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.2010.085100" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="49" class="mim-anchor"></a>
<a id="Pearson2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pearson, T., Curtis, F., Al-Eyadhy, A., Al-Tamemi, S., Mazer, B., Dror, Y., Abish, S., Bale, S., Compton, J., Ray, R., Scott, P., Der Kaloustian, V. M.
<strong>An intronic mutation in DKC1 in an infant with Hoyeraal-Hreidarsson syndrome. (Letter)</strong>
Am. J. Med. Genet. 146A: 2159-2161, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18627054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18627054</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18627054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.32412" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="50" class="mim-anchor"></a>
<a id="Phillips1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Phillips, R. J., Judge, M., Webb, D., Harper, J. I.
<strong>Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation.</strong>
Brit. J. Derm. 127: 278-280, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1390173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1390173</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1390173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1365-2133.1992.tb00128.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="51" class="mim-anchor"></a>
<a id="Reardon1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Reardon, W., Hockey, A., Silberstein, P., Kendall, B., Farag, T. I., Swash, M., Stevenson, R.
<strong>Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification and CNS disease.</strong>
Am. J. Med. Genet. 52: 58-65, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7977464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7977464</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7977464" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320520112" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="52" class="mim-anchor"></a>
<a id="Reichel1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Reichel, M., Grix, A. C., Isseroff, R. R.
<strong>Dyskeratosis congenita associated with elevated fetal hemoglobin, X-linked ocular albinism, and juvenile-onset diabetes mellitus.</strong>
Pediat. Derm. 9: 103-106, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1376473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1376473</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1376473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1525-1470.1992.tb01223.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="53" class="mim-anchor"></a>
<a id="Schratz2023" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schratz, K. E., Flasch, D. A., Atik, C. C., Cosner, Z. L., Blackford, A. L., Yang, W., Gable, D. L., Vellanki, P. J., Xiang, Z., Gaysinskaya, V., Vonderheide, R. H., Rooper, L. M., Zhang, J., Armanios, M.
<strong>T cell immune deficiency rather than chromosome instability predisposes patients with short telomere syndromes to squamous cancers.</strong>
Cancer Cell 41: 807-817, 2023.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37037617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37037617</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37037617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ccell.2023.03.005" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="54" class="mim-anchor"></a>
<a id="Selmanowitz1971" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Selmanowitz, V. J., van Voolen, G. A.
<strong>Fanconi's anemia and dyskeratosis congenita. (Letter)</strong>
JAMA 216: 2015 only, 1971.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5108638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5108638</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5108638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/jama.1971.03180380069022" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="55" class="mim-anchor"></a>
<a id="Sirinavin1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sirinavin, C., Trowbridge, A. A.
<strong>Dyskeratosis congenita: clinical features and genetic aspects: report of a family and review of the literature.</strong>
J. Med. Genet. 12: 339-354, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/768476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">768476</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=768476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.12.4.339" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="56" class="mim-anchor"></a>
<a id="Steier1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Steier, W., van Voolen, G. A., Selmanowitz, V. J.
<strong>Dyskeratosis congenita: relationship to Fanconi's anemia.</strong>
Blood 39: 510-521, 1972.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4622206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4622206</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4622206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="57" class="mim-anchor"></a>
<a id="Vulliamy1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Vulliamy, T. J., Knight, S. W., Dokal, I., Mason, P. J.
<strong>Skewed X-inactivation in carriers of X-linked dyskeratosis congenita.</strong>
Blood 90: 2213-2216, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9310472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9310472</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9310472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="58" class="mim-anchor"></a>
<a id="Walne2013" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Walne, A. J., Vulliamy, T., Kirwan, M., Plagnol, V., Dokal, I.
<strong>Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.</strong>
Am. J. Hum. Genet. 92: 448-453, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23453664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23453664</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23453664[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23453664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ajhg.2013.02.001" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="59" class="mim-anchor"></a>
<a id="Wiedemann1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wiedemann, H. P., McGuire, J., Dwyer, J. M., Sabetta, J., Gee, J. B. L., Smith, G. J. W., Loke, J.
<strong>Progressive immune failure in dyskeratosis congenita: report of an adult in whom Pneumocystis carinii and fatal disseminated candidiasis developed.</strong>
Arch. Intern. Med. 144: 397-399, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6607716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6607716</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6607716" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="60" class="mim-anchor"></a>
<a id="Womer1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Womer, R., Clark, J. E., Wood, P., Sabio, H., Kelly, T. E.
<strong>Dyskeratosis congenita: two examples of this multisystem disorder.</strong>
Pediatrics 71: 603-607, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6601257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6601257</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6601257" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="61" class="mim-anchor"></a>
<a id="Wong2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wong, J. M. Y., Collins, K.
<strong>Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita.</strong>
Genes Dev. 20: 2848-2858, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17015423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17015423</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17015423[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17015423" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1101/gad.1476206" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="62" class="mim-anchor"></a>
<a id="Yaghmai2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yaghmai, R., Kimyai-Asadi, A., Rostamiani, K., Heiss, N. S., Poustka, A., Eyaid, W., Bodurtha, J., Nousari, H. C., Hamosh, A., Metzenberg, A.
<strong>Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.</strong>
J. Pediat. 136: 390-393, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700698</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1067/mpd.2000.104295" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="63" class="mim-anchor"></a>
<a id="Yoon2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yoon, A., Peng, G., Brandenburger, Y., Zollo, O., Xu, W., Rego, E., Ruggero, D.
<strong>Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita.</strong>
Science 312: 902-905, 2006. Note: Erratum: Science 313: 1238 only, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16690864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16690864</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16690864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1126/science.1123835" target="_blank">Full Text</a>]
</p>
</div>
</li>
</ol>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="contributors" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="mim-text-font">
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 05/17/2023
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseContributors">
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 05/08/2023<br>Cassandra L. Kniffin - updated : 12/3/2013<br>Cassandra L. Kniffin - updated : 9/11/2013<br>Ada Hamosh - updated : 7/26/2011<br>Cassandra L. Kniffin - reorganized : 5/26/2011<br>Cassandra L. Kniffin - updated : 5/25/2011<br>Marla J. F. O'Neill - updated : 7/10/2008<br>Patricia A. Hartz - updated : 11/9/2006<br>Ada Hamosh - updated : 6/6/2006<br>Gary A. Bellus - updated : 3/6/2003<br>Victor A. McKusick - updated : 1/10/2003<br>Ada Hamosh - updated : 4/7/2000<br>Ada Hamosh - updated : 12/1/1999<br>Victor A. McKusick - updated : 3/24/1999<br>Victor A. McKusick - updated : 2/25/1999<br>Victor A. McKusick - updated : 4/27/1998<br>Victor A. McKusick - updated : 1/21/1998<br>Victor A. McKusick - updated : 9/24/1997<br>Victor A. McKusick - updated : 3/12/1997<br>Victor A. McKusick - updated : 2/7/1997
</span>
</div>
</div>
</div>
<div>
<a id="creationDate" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
Creation Date:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick : 6/24/1986
</span>
</div>
</div>
</div>
<div>
<a id="editHistory" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
alopez : 05/25/2023
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseEditHistory">
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
ckniffin : 05/17/2023<br>ckniffin : 05/17/2023<br>carol : 05/15/2023<br>alopez : 05/10/2023<br>ckniffin : 05/08/2023<br>alopez : 07/12/2018<br>carol : 11/16/2017<br>joanna : 08/04/2016<br>alopez : 07/02/2014<br>carol : 12/6/2013<br>ckniffin : 12/3/2013<br>carol : 9/19/2013<br>ckniffin : 9/11/2013<br>alopez : 8/17/2011<br>alopez : 8/16/2011<br>alopez : 8/16/2011<br>terry : 7/26/2011<br>wwang : 6/21/2011<br>ckniffin : 6/13/2011<br>carol : 5/26/2011<br>ckniffin : 5/25/2011<br>wwang : 7/24/2009<br>terry : 6/3/2009<br>terry : 6/3/2009<br>wwang : 7/11/2008<br>terry : 7/10/2008<br>carol : 5/4/2007<br>alopez : 4/13/2007<br>mgross : 11/9/2006<br>carol : 9/6/2006<br>alopez : 6/9/2006<br>terry : 6/6/2006<br>alopez : 3/6/2003<br>tkritzer : 1/23/2003<br>tkritzer : 1/14/2003<br>tkritzer : 1/14/2003<br>terry : 1/10/2003<br>carol : 11/13/2000<br>alopez : 4/7/2000<br>carol : 2/14/2000<br>yemi : 2/11/2000<br>yemi : 2/11/2000<br>alopez : 12/1/1999<br>terry : 12/1/1999<br>carol : 3/24/1999<br>carol : 3/22/1999<br>terry : 2/25/1999<br>carol : 2/17/1999<br>alopez : 2/3/1999<br>dkim : 7/24/1998<br>alopez : 4/27/1998<br>terry : 4/27/1998<br>terry : 4/27/1998<br>mark : 1/25/1998<br>terry : 1/21/1998<br>terry : 1/21/1998<br>dholmes : 10/6/1997<br>terry : 9/30/1997<br>terry : 9/24/1997<br>mark : 7/8/1997<br>terry : 3/12/1997<br>terry : 3/12/1997<br>terry : 2/7/1997<br>terry : 2/3/1997<br>terry : 12/13/1996<br>carol : 8/23/1996<br>marlene : 8/6/1996<br>terry : 7/26/1996<br>terry : 4/21/1994<br>warfield : 3/21/1994<br>mimadm : 2/27/1994<br>carol : 8/31/1993<br>carol : 5/27/1993<br>carol : 2/1/1993
</span>
</div>
</div>
</div>
</div>
</div>
</div>
<div class="container visible-print-block">
<div class="row">
<div class="col-md-8 col-md-offset-1">
<div>
<div>
<h3>
<span class="mim-font">
<strong>#</strong> 305000
</span>
</h3>
</div>
<div>
<h3>
<span class="mim-font">
DYSKERATOSIS CONGENITA, X-LINKED; DKCX
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<div >
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
ZINSSER-COLE-ENGMAN SYNDROME
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
<div>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
</div>
<div>
<span class="h3 mim-font">
HOYERAAL-HREIDARSSON SYNDROME, INCLUDED; HHS, INCLUDED
</span>
</div>
<div>
<span class="h4 mim-font">
CEREBELLAR HYPOPLASIA WITH PANCYTOPENIA, INCLUDED<br />
GROWTH RETARDATION, PRENATAL, WITH PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA, INCLUDED
</span>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<p>
<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 707276009, 708536001; &nbsp;
<strong>ORPHA:</strong> 1775, 3322; &nbsp;
<strong>DO:</strong> 0070025; &nbsp;
</span>
</p>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
Xq28
</span>
</td>
<td>
<span class="mim-font">
Dyskeratosis congenita, X-linked
</span>
</td>
<td>
<span class="mim-font">
305000
</span>
</td>
<td>
<span class="mim-font">
X-linked recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
DKC1
</span>
</td>
<td>
<span class="mim-font">
300126
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that X-linked dyskeratosis congenita (DKCX) is caused by mutation in the dyskerin gene (DKC1; 300126) on chromosome Xq28.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Dyskeratosis congenita (DKC) is classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. It is characterized by short telomeres. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, hepatopulmonary syndrome, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, gastrointestinal disease (esophageal strictures or enteropathy), and learning difficulties. Males may have testicular atrophy. Predisposition to malignancy, including hematologic malignancy and squamous cell carcinoma, is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by Kirwan and Dokal, 2008; Gorgy et al., 2015; Schratz et al., 2023). </p><p>Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS can show intrauterine growth retardation, microcephaly, delayed development, bone marrow failure, immunodeficiency, cerebellar hypoplasia, immune defects (B-cell lymphopenia and hypogammaglobulinemia), and gastrointestinal manifestations, including enterocolitis and enteropathy. Death often occurs in childhood (summary by Walne et al., 2013). </p><p>For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550).</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Sirinavin and Trowbridge (1975) reported a large kindred with X-linked DKC. Pancytopenia and malignancy were features, and opportunistic infections were also a major complication. Nail dystrophy, reticulated atrophic telangiectatic hyper- and hypopigmented skin lesions, oral leukoplakia, and impaired intellectual development were described. An extensive review of the literature was provided. </p><p>Connor and Teague (1981) reported an affected kindred, and noted 3 previously unreported complications: Hodgkin disease, pancreatic adenocarcinoma, and deafness. Normal chromosomal stability was found in the 3 patients studied. Studies uncovered no early generalized defect of cell-mediated immunity. </p><p>Womer et al. (1983) reported 2 brothers who showed reticular hyperpigmentation, dystrophic nails, oral leukoplakia, and aplastic anemia. Less common features included prenatal and postnatal growth retardation, mental retardation, elevated immunoglobulin levels, and gastrointestinal hemorrhage from mucosal ulcerations. 'New' features were intracranial calcifications and nutmeg-like cirrhosis of the liver. No increased chromosomal breakage was noted. Death occurred at ages 18 and 14 years. </p><p>Davidson and Connor (1988) provided an extensive review of 104 published cases of which 51 had previously been reviewed by Sirinavin and Trowbridge (1975). </p><p>Phillips et al. (1992) described a 5-year-old boy who was treated with bone marrow transplantation for aplastic anemia at the age of 2 years. The diagnosis of dyskeratosis congenita was not made until 18 months after the bone marrow transplant. He had diffuse nonscarring alopecia and problems related to bilateral lacrimal duct blockage. At the age of 5 years, all nails were hypoplastic and irregular, and he had reticulate hyperpigmentation on his neck. He required a hearing aid and had poor vision in one eye. Lacrimal duct stenosis is said to be present in about 80% of cases. In 70%, pancytopenia is the cause of death. Because of a previously widely held view that the outcome of bone marrow transplantation in this disorder is poor, this treatment option was sometimes not considered when pancytopenia developed. Phillips et al. (1992) suggested that the results may be satisfactory if radiation is avoided. </p><p>Bone marrow failure has been reported in approximately 50% of cases of dyskeratosis congenita (Dokal, 1996), and in some patients symptoms related to aplastic anemia may precede the diagnosis of DKC (Forni et al., 1993). </p><p>Caux et al. (1996) presented a patient and reviewed the pathogenesis of the disorder.</p><p>Merchant et al. (1998) described the changes of chronic keratoconjunctivitis in a case of congenital dyskeratosis thought to be autosomal dominant with 'variable penetration.' In general, the disorder is more likely to be X-linked, and the family history suggested that this was the case with partial expression in heterozygous females. The patient was a 58-year-old man from Puerto Rico. In addition to chronic cicatrizing keratoconjunctivitis, which was said to have been a problem since 5 years of age, he had reticulate pigmentation of the skin, dystrophic nails, leukoplakia, alopecia, dental problems resulting in tooth loss, and thrombocytopenia. The patient's mother had a mild form of the disorder with limited skin involvement, and 2 brothers had significant skin pigmentation and nail dystrophy. One of the brothers also had a history of tongue cancer. The patient had 1 son who had no manifestations of the disease but 2 of his 3 daughters had classic skin and nail findings of congenital dyskeratosis, and the third daughter had subtle skin changes. One of the daughter's sons, who was 17 years old, had early pigmentary skin changes and significant thrombocytopenia. </p><p>In the Dyskeratosis Congenita Registry at the Hammersmith Hospital in London, 46 families were recruited (Knight et al., 1998). Of 83 patients, 76 were male, suggesting that the major form of DKC is X-linked. In addition to a variety of noncutaneous abnormalities, most of the patients (93%) had bone marrow failure, which was the principal cause (71%) of early mortality. Some patients also developed myelodysplasia and acute myeloid leukemia. Pulmonary abnormalities were present in 19% of patients. </p><p>Parry et al. (2011) reported a large family of Irish ancestry with X-linked inheritance of adult-onset pulmonary fibrosis. Clinical history revealed that affected members also had features suggestive of DKC, including nail dystrophy, skin hyperpigmentation, and liver cirrhosis. One patient died of squamous cell carcinoma at age 34 years, but there was no family history of aplastic anemia. Four affected males had telomere lengths at or below the 1st centile compared to controls, as well as low levels of telomerase RNA. Western blot analysis showed low levels of dyskerin in affected males, but sequencing of the DKC1 gene did not identify any pathogenic mutations. However, genomewide linkage analysis identified a 47-cM peak on chromosome Xq28 (lod score of 3.25), and obligate carriers females showed skewed X inactivation. The findings indicated that intact levels of dyskerin, in the absence of coding mutations, are essential for in vito telomere maintenance, and that a defect in dyskerin levels is sufficient to cause telomere-mediated disease. Parry et al. (2011) emphasized the high frequency of pulmonary fibrosis as a manifestation of the disorder in this family. Affected individuals died as adults, suggesting that pulmonary disease may represent an attenuated, adult-onset telomere phenotype. </p><p>Jonassaint et al. (2013) identified significant gastrointestinal disease in 6 (16%) of 38 individuals from a registry of patients with short telomere syndromes due to various genetic defects. Two of these patients had mutations in the DKC1 gene. Patient 2 was a 3-year-old boy with a diagnosis of Hoyeraal-Hreidarsson syndrome (HHS) and patient 6 was a 34-year-old man with classic features of DKC. Both had dysphagia due to severe esophageal stenosis with a membranous web that partially occluded the lumen. Balloon dilation resulted in clinical improvement in both patients. Patient 6 also had atrophic gastritis with parietal cell dropout, villous blunting in the bowel, increased epithelial apoptosis in the duodenum, and duodenal and colonic intraepithelial lymphocytosis. A review of the literature identified additional patients with DKC and HHS who had gastrointestinal disease; some of these patients had mutations in the DKC1 gene, but the gene defect in other patients was not reported. Overall, intestinal disease presented earlier and was more severe in younger patients with HHS compared to those with classic DKC. Dysphagia due to esophageal stricture and stenosis was the most common upper GI feature; it was observed mainly in patients with DKC, although a few patients had HHS. Chronic diarrhea with failure to thrive due to enteropathy and enterocolitis was the most common lower GI feature; it was observed mainly in younger patients with HHS and was often a presenting feature. Histopathologic findings included pancolitis, atrophic mucosa, gland dropout, lamina propria fibrosis, intraepithelial lymphocytosis, and epithelial cell apoptosis. The disease course in HHS patients with lower GI disease was sometimes life-threatening, requiring total parenteral nutrition or colectomy. All patients with HHS and intestinal disease had a concurrent B-cell lymphopenia and/or hypogammaglobulinemia. The findings suggested that telomere dysfunction disrupts the epithelial integrity of the GI tract. </p><p>Gorgy et al. (2015) diagnosed hepatopulmonary syndrome (HPS) in 2 unrelated males (patients 1 and 6) with X-linked DKC who had short telomeres and progressive dyspnea without parenchymal lung disease or fibrosis. One patient was diagnosed at age 8 years and died at age 17; the other was diagnosed at age 34 and died at 40. Features included cyanosis, digital clubbing, splenomegaly, elevated liver enzymes, portal hypertension, ascites, and variceal bleeding. Both had evidence of intra- and extra-pulmonary arteriovascular fistulas that caused shunt physiology. Patient 6 had nodular regenerative hyperplasia on liver biopsy. Variable syndromic features found in these patients included bone marrow failure and skin telangiectasia. The authors concluded that HPS can cause dyspnea in telomerase gene mutation carriers. </p><p>Schratz et al. (2023) identified 16 invasive solid tumors in 14 of 226 adults with short telomere syndromes due to mutations in several genes, including DKC1. Nearly all (88%) of the tumors were derived from the squamous cell epithelium, most commonly of the head and neck, followed by anal squamous cell carcinoma and skin squamous cell carcinoma. In contrast, there was a lower than expected number of common age-related solid cancers among these patients. Most of the patients who developed squamous cell solid tumors were male. Development of the tumors was associated with CD4+ T-cell lymphopenia, suggesting impaired tumor surveillance by T cells and age-related T-cell exhaustion. Of note, all 3 anal cancers and 1 laryngeal cancer were associated with HPV infection, and 4 of 10 patients with T-cell lymphopenia had secondary causes for the lymphopenia (lung or liver transplant or iatrogenic immunosuppression). </p><p><strong><em>Hoyeraal-Hreidarsson Syndrome</em></strong></p><p>
Hoyeraal et al. (1970) reported 2 brothers with prenatal growth retardation, microcephaly, mental retardation with spastic paresis and ataxia, pancerebellar hypoplasia, thrombocytopenia, and bone marrow hypoplasia. Hreidarsson et al. (1988) reported a single affected male and proposed that the disorder is autosomal recessive because the parents were consanguineous. The brothers of Hoyeraal et al. (1970) died at 23 and 42 months of age; the patient of Hreidarsson et al. (1988) died at 23 months of age. Aalfs et al. (1995) reported a single case, a male with nonconsanguineous parents who was still alive at the age of 4 years. Like the case of Hreidarsson et al. (1988), the patient had pancytopenia, as well as intrauterine growth retardation, microcephaly, developmental delay, spastic paresis, ataxia, and cerebellar hypoplasia. Berthet et al. (1994) and Berthet et al. (1995) suggested that immunodeficiency is a feature of this syndrome. </p><p>Reardon et al. (1994) suggested that this is the same condition as the autosomal recessive congenital intrauterine infection-like syndrome, or pseudo-TORCH syndrome (251290). Aalfs and Hennekam (1995) described several differences between the 2 syndromes. Patients with Hoyeraal-Hreidarsson syndrome show only growth retardation and microcephaly in the first months of life, whereas those with the pseudo-TORCH syndrome have symptoms resembling TORCH infection shortly after birth, including hepatosplenomegaly. Furthermore, in the intrauterine infection-like syndrome, the neonatally present thrombocytopenia resolves within a year if the child survives, whereas in the Hoyeraal-Hreidarsson syndrome the first symptoms of pancytopenia do not occur before the age of 5 months and continue to increase for years. The cerebellum is proportionately small in Hoyeraal-Hreidarsson syndrome, whereas the cerebral abnormalities are more severe in the pseudo-TORCH syndrome. </p><p>Ohga et al. (1997) summarized 6 reported cases of Hoyeraal-Hreidarsson syndrome. </p><p>Mahmood et al. (1998) described 2 sibs with low birthweight, failure to thrive, chronic persistent tongue ulceration, severe truncal ataxia, and pancytopenia without either telangiectasia or chromosomal instability. One sib died from sepsis and the cerebellum demonstrated reduced cellularity of the molecular and granular layers with relative preservation of Purkinje cells and minimal gliosis. The surviving sib showed hematologic progression to a myelodysplastic disorder. There was no evidence of chromosomal instability following exposure of fibroblasts and lymphocytes to irradiation. Monosomy-7 was not present in the surviving sib. Mahmood et al. (1998) suggested the diagnosis of Hoyeraal-Hreidarsson syndrome. </p><p>Yaghmai et al. (2000) reported a 4-year-old boy with pancytopenia and oral ulcers who was born at 32 weeks' gestation with intrauterine growth retardation. He had developed esophageal strictures and gastric ulcers, and also had moderate hypoplasia of the midline cerebellum and Dandy-Walker variant (220200). He had microcephaly, thin, brittle scalp hair, 20-nail dystrophy, and subtle reticulated hyperpigmentation of the shoulder and arms. This child had striking features of both Hoyeraal-Hreidarsson syndrome and X-linked dyskeratosis congenita. </p><p>Pearson et al. (2008) reported a 9-month-old Italian boy with HHS. The pregnancy was complicated by decreased fetal movements, intrauterine growth retardation, and oligohydramnios. He had microcephaly, neonatal respiratory distress, and transient thrombocytopenia and leukopenia. At age 4 months, he presented with seizures and axial hypotonia. Brain MRI showed cerebellar hypoplasia, and other radiographs showed distal metaphyseal flaring of the long bones. Although most hematologic indices remained relatively normal, his platelet counts continued to fall below normal, requiring transfusions. He died at age 2 years. Genetic analysis identified a hemizygous mutation in the DKC1 gene (300126.0015). </p><p><strong><em>Female Carriers</em></strong></p><p>
Alder et al. (2013) reported 2 unrelated families with DKCX, confirmed by genetic analysis, in which 5 female mutation carriers showed features of the disorder. In the first family, a man developed pulmonary fibrosis at age 46 years, followed by aplastic anemia and myelodysplastic syndrome resulting in death at age 49. His daughter showed graying of the hair at age 20 and wound dehiscence after surgery at age 23. The father's telomere length was below 1% of controls, and the daughter's telomere length was near 5% of controls. X-inactivation in the daughter was skewed at 93%. In the second family, 2 affected brothers had a total of 3 affected daughters. The daughters showed features of DKC in childhood, including skin hyperpigmentation, nail dystrophy, fragile teeth with caries, and hair graying. One daughter had developmental delay and another had anosmia. X-inactivation studies performed in 2 females showed 100% skewing. The findings indicated that mutations in the DKC1 gene can cause telomere-related phenotypes in heterozygous females, and Alder et al. (2013) suggested that heterozygous females should be followed for telomere-related complications, particularly when exposed to environmental insults. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Other Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Kalb et al. (1986) described a 33-year-old man with typical features of DKC as well as avascular necrosis of the femoral head. Such had previously been reported in cases of this disorder but only in patients who had received systemic adrenocorticosteroids for pancytopenia or thrombocytopenia. </p><p>Reichel et al. (1992) found reports of 15 cases of elevated fetal hemoglobin in association with DKC and added another case, an 11-year-old boy who, in addition to DKC and elevated fetal hemoglobin, had X-linked ocular albinism and juvenile-onset diabetes mellitus. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Biochemical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In fibroblasts from a patient with DKC, DeBauche et al. (1990) found increased frequency of chromatid breaks and chromatid gaps after X-radiation during the G-2 phase of the cell cycle. </p><p>Ning et al. (1992) found that the mean number of chromosome breaks per cell in bleomycin-treated lymphocytes was higher in patients with dyskeratosis congenita and in obligatory heterozygotes than in normal individuals. Unequivocal heterozygote detection was not possible owing to overlap of values. In vitro clonogenic assays, as well as long-term bone marrow culture studies (Marsh et al., 1992), suggested that symptoms of aplastic anemia in DKC may be due to a defect at the level of the hematopoietic stem cell. </p><p>In 4 patients with DKC, 3 from 1 family and 1 from another, Dokal et al. (1992) found that primary skin fibroblast cultures were abnormal both in morphology (polygonal cell shape, ballooning, and dendritic-like projections) and in growth rate (doubling time about twice normal). Fibroblast survival studies using 4 clastogens and gamma radiation showed no significant difference between DKC and normal fibroblasts. Furthermore, cytogenetic studies performed on peripheral blood lymphocytes showed no difference between DKC and normal lymphocytes with or without prior incubation with clastogens. However, bone marrow metaphases from 1 of 3 patients and fibroblasts from 2 of 4 patients showed numerous unbalanced chromosomal rearrangements (dicentrics, tricentrics, and translocations) in the absence of any clastogenic agents. A higher rate of chromosomal rearrangements was found in the older patients and this, together with the cell-specific differences, appeared to correlate with the clinical evolution of the disease. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Management</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In a review, Dokal (1996) noted that late fatal vascular complications had been reported in some cases following bone marrow transplantation (Berthou et al., 1991). This may be related to preexisting endothelial damage in DKC patients, as evidenced by raised von Willebrand factor (613160) levels in the plasma. </p><p>Dokal (1996) suggested that DKC may be a good candidate for gene therapy for several reasons: first, it is a single gene disorder; second, the main cause of mortality relates to bone marrow failure and hematopoietic cells are accessible for targeting; and third, hematopoietic stem cells transfected with the normal DKC gene would be expected to have a selective growth advantage in the hypoplastic marrow. </p><p>Nobili et al. (2002) summarized the results of hematopoietic stem cell transplantation in 23 DKC patients, only 4 of whom were female, suggesting that most had the X-linked form of the disorder. Allogeneic hematopoietic stem cell transplantation was the only curative approach for the severe bone marrow failure in this disorder. However, results of allograft in these patients had been relatively poor, due to the occurrence of both early and late complications, reflecting the increased sensitivity of endothelial cells to radiotherapy and alkylating agents. Interstitial and obstructive lung disease, as well as liver toxicity, had been observed in DKC patients, leading to the suggestion that radiotherapy and busulfan should be avoided in the conditioning regimens. Nobili et al. (2002) described a 2-year-old boy with DKC who was given cord blood transplantation from an HLA-identical sib, using a fludarabine-based nonmyeloablative conditioning regimen. Improved results were anticipated. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Bryan and Nixon (1965) reported a pedigree with 4 and possibly 5 affected males in a relationship consistent with X-linked recessive inheritance. </p><p>Sirinavin and Trowbridge (1975) reported a particularly instructive kindred in which 9 males in 4 sibships and 3 generations were affected. </p><p>In the Dyskeratosis Congenita Registry at the Hammersmith Hospital in London, 46 families were recruited (Knight et al., 1998). Of 83 patients, 76 were male, suggesting that the major form of DKC is X-linked. </p><p><strong><em>X-Chromosome Inactivation</em></strong></p><p>
Ferraris et al. (1997) hypothesized that, at least in some DKC families, the selective pressure in the heterozygote might be strong enough to determine negative selection of progenitors bearing the mutant allele, resulting in extreme skewing of X-chromosome inactivation in cells of hematopoietic descent. The pattern of methylation of HpaII and HhaI sites with a highly polymorphic CAG repeat in the coding region of the first exon of the androgen receptor gene (AR; 313700) (Allen et al., 1992) was used in these studies. Ferraris et al. (1997) studied 2 families and found that indeed carrier females showed nonrandom X inactivation in whole blood leukocytes, granulocytes, and mononuclear cells. </p><p>Using the methylation-sensitive HpaII site in the androgen receptor gene, Vulliamy et al. (1997) found that in 5 different families in which the inheritance of DKC appeared to be X-linked, all 16 carriers showed skewed X-inactivation patterns. The results indicated that in the hematopoiesis of heterozygous females cells expressing the normal allele had a growth advantage over cells that express the mutant allele. In 7 other families with sporadic cases of DKC or with an uncertain pattern of inheritance, both skewed and normal patterns of X inactivation were observed. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In a large kindred with DKC, Sirinavin and Trowbridge (1975) excluded close linkage with the Xg locus. Gutman et al. (1978) observed 2 maternal male cousins. Linkage analysis indicated that dyskeratosis, Xg, and G6PD (305900) are far apart. In an extensively affected kindred, Connor and Teague (1981) excluded close linkage to Xg. </p><p>Connor et al. (1986) assigned DKC to chromosome Xq28 by linkage of DNA markers. Its relationships to other loci in this segment were not determined. Arngrimsson et al. (1993) confirmed the linkage with study of 3 further families, which brought the maximum lod score for DKC and DXS52 to 5.33 at zero recombination. </p><p>Knight et al. (1996) studied 5 families with additional Xq28 polymorphic markers and concluded that the DKC locus is between GABRA3 (305660) and DXS1108, an interval of approximately 4 Mb. </p><p>Devriendt et al. (1997) reported that dyskeratosis congenita was quite clearly X-linked because linkage analysis with markers in the factor VIII gene (F8; 300841) at chromosome Xq28 yielded a lod score of 2.o at a recombination of 0.0, and clinical manifestations of DKC were present in 2 obligate carrier females, e.g., skin lesions following the Blaschko lines. Highly skewed X inactivation was observed in white blood cells, cultured skin fibroblasts, and buccal mucosa from female carriers of DKC in this family. The skewing suggested a critical role for the DKC gene in proliferation of fibroblasts and bone marrow cells. Devriendt et al. (1997) presented photographs of the linear skin lesions of the palmar aspects of the hands. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In patients with X-linked DKC, Heiss et al. (1998) identified 5 different mutations in the DKC1 gene (300126.0001-300126.0005). Three families had previously been reported: Connor et al. (1986) (P40R; 300126.0003); Dokal et al. (1992) (G402Q; 300126.0005); and Devriendt et al. (1997) (F36V; 300126.0001). As a result of large-scale positional cloning and sequencing of the region of Xq28 containing the DKC1 gene, virtually all DKC positional candidates had been identified. By hybridization screening with 28 candidate cDNAs, Heiss et al. (1998) detected a 3-prime deletion in 1 DKC patient with a cDNA probe derived from XAP101. They subsequently identified 5 different missense mutations in 5 unrelated patients in the XAP101 (DKC1) gene. DKC1 is highly conserved across species barriers and is the ortholog of rat NAP57 and S. cerevisiae CBF5. The peptide, referred to as dyskerin, was found to contain 2 TruB pseudouridine synthase motifs, multiple phosphorylation sites, and a carboxy-terminal lysine-rich repeat domain. By analogy to the function of the known dyskerin orthologs, involvement in the cell cycle and nucleolar function was predicted for the protein. </p><p>Because of phenotypic similarities between HHS and DKC, Knight et al. (1999) hypothesized that both disorders might be caused by mutation in the same gene. In the family reported by Aalfs et al. (1995) and another family segregating HHS, Knight et al. (1999) identified mutations in the DKC1 gene (300126.0010-300126.0011), demonstrating that HHS is a severe variant of dyskeratosis congenita. </p><p>Yaghmai et al. (2000) reported a patient with striking features of both Hoyeraal-Hreidarsson syndrome and DKC who carried an ala353-to-val mutation in the DKC1 gene (300126.0006). Yaghmai et al. (2000) concluded that HHS may be a severe form of DKC in which affected individuals die before characteristic mucocutaneous features develop. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Pathogenesis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Mitchell et al. (1999) demonstrated that dyskerin is associated not only with H/ACA small nucleolar RNAs but also with human telomerase RNA (TERC; 602322), which contains an H/ACA RNA motif. Telomerase adds simple sequence repeats to chromosome ends using an internal region of its RNA as a template and is required for the proliferation of primary human cells. Mitchell et al. (1999) found that primary fibroblasts and lymphoblasts from DKC-affected males were not detectably deficient in conventional H/ACA small nucleolar RNA accumulation or function. However, DKC cells had a lower level of telomerase RNA, produced lower levels of telomerase activity than matched normal cells, and had shorter telomeres. Mitchell et al. (1999) concluded that the pathology of DKC is consistent with compromised telomerase function leading to a defect in telomere maintenance, which may limit the proliferative capacity of human somatic cells in epithelia and blood. </p><p>Montanaro et al. (2002) observed that in lymphoblastoid cell lines from patients with dyskeratosis congenita, rRNA transcription and maturation and proliferative capability remained unimpaired. Increasing the number of cell cycles led to a steep rise in the apoptotic fraction of dyskeratosis congenita cells. These findings demonstrated that whereas dyskeratosis congenita cell lines do not display proliferation defects, they do show progressively increasing levels of apoptosis in relation to the number of cell divisions. This observation is consistent with the delayed onset of dyskeratosis congenita proliferating-tissue defects, which do not emerge during embryonal development as would be expected with ribosomal biogenesis alterations, and with the increasing severity of the proliferating-tissue defects over time. </p><p>Wong and Collins (2006) found that primary dermal fibroblasts cultured from a DKC patient underwent premature senescence, consistent with the presence of short telomeres, compared with dermal fibroblasts cultured from his asymptomatic maternal grandmother. Expression of exogenous TERT (187270) from a retroviral vector increased telomerase activity in DKC patient cells, resulting in increased steady-state levels of TERC and elimination of premature senescence, but did not confer telomere length maintenance. DKC patient cells expressing both TERT and TERC from a single retroviral vector gained and maintained long telomeres. Following rescue from premature senescence, DKC patient cells from 2 different families had normal levels of rRNA pseudouridine modification and no dramatic delay in rRNA precursor processing, in contrast with phenotypes reported for mouse models of DKC. Wong and Collins (2006) concluded that defects in DKC patient cells arise solely from reduced accumulation of TERC. </p><p>Using an unbiased proteomics strategy, Yoon et al. (2006) discovered a specific defect in IRES (internal ribosome entry site)-dependent translation in Dkc1 mutated mice and in cells from X-linked dyskeratosis congenita patients. This defect results in impaired translation of mRNAs containing IRES elements, including those encoding the tumor suppressor p27(Kip1) (CDKN1B; 600778) and the antiapoptotic factors Bcl-xl (BCL2L1; 600039) and XIAP (300079). Moreover, ribosomes from Dkc1 mutant mice were unable to direct translation from IRES elements present in viral mRNAs. Yoon et al. (2006) concluded that their findings revealed a potential mechanism by which defective ribosome activity leads to disease and cancer. </p><p>Batista et al. (2011) showed that even in the undifferentiated state, induced pluripotent stem cells (iPSCs) from dyskeratosis congenita patients harbor the precise biochemical defects characteristic of each form of the disease and that the magnitude of the telomere maintenance defect in iPSCs correlates with clinical severity. In iPSCs from patients with heterozygous mutations in TERT, the telomerase reverse transcriptase, a 50% reduction in telomerase levels blunts the natural telomere elongation that accompanies reprogramming. In contrast, mutation of dyskerin (DKC1; 300126) in X-linked dyskeratosis congenita severely impairs telomerase activity by blocking telomerase assembly and disrupts telomere elongation during reprogramming. In iPSCs from a form of dyskeratosis congenita caused by mutations in TCAB1 (also known as WRAP53, 612661), telomerase catalytic activity is unperturbed, yet the ability of telomerase to lengthen telomeres is abrogated, since telomerase mislocalizes from Cajal bodies to nucleoli within the iPSCs. Extended culture of DKC1-mutant iPSCs leads to progressive telomere shortening and eventual loss of self-renewal, indicating that a similar process occurs in tissue stem cells in dyskeratosis congenita patients. Their findings in iPSCs from dyskeratosis congenita patients led Batista et al. (2011) to conclude that undifferentiated iPSCs accurately recapitulate features of a human stem cell disease and may serve as a cell culture-based system for the development of targeted therapeutics. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Milgrom et al. (1964) described a black male with dyskeratosis congenita. They pointed out that the 2 serious complications are anemia and cancer, which can develop in the leukoplakia of the anus or mouth or in the skin. </p><p>Selmanowitz and van Voolen (1971) pointed out the phenotypic overlap with Fanconi anemia (see 227650) and raised the question whether Fanconi anemia and dyskeratosis congenita might be causally related. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Carter et al. (1978); Civatte et al. (1978); Friedland et al. (1985);
Garb (1958); Giannetti and Seidenari (1980); Inoue et al. (1973);
Koszewski and Hubbard (1956); Steier et al. (1972); Wiedemann et al.
(1984)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Aalfs, C. M., Hennekam, R. C. M.
<strong>Differences between the Hoyeraal-Hreidarsson syndrome and an autosomal recessive congenital intrauterine infection-like syndrome. (Letter)</strong>
Am. J. Med. Genet. 58: 385 only, 1995.
[PubMed: 8533857]
[Full Text: https://doi.org/10.1002/ajmg.1320580423]
</p>
</li>
<li>
<p class="mim-text-font">
Aalfs, C. M., van den Berg, H., Barth, P. G., Hennekam, R. C. M.
<strong>The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia.</strong>
Europ. J. Pediat. 154: 304-308, 1995.
[PubMed: 7607282]
[Full Text: https://doi.org/10.1007/BF01957367]
</p>
</li>
<li>
<p class="mim-text-font">
Alder, J. K., Parry, E. M., Yegnasubramanian, S., Wagner, C. L., Lieblich, L. M., Auerbach, R., Auerbach, A. D., Wheelan, S. J., Armanios, M.
<strong>Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.</strong>
Hum. Mutat. 34: 1481-1485, 2013.
[PubMed: 23946118]
[Full Text: https://doi.org/10.1002/humu.22397]
</p>
</li>
<li>
<p class="mim-text-font">
Allen, R. C., Zoghbi, H. Y., Moseley, A. B., Rosenblatt, H. M., Belmont, J. W.
<strong>Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.</strong>
Am. J. Hum. Genet. 51: 1229-1239, 1992.
[PubMed: 1281384]
</p>
</li>
<li>
<p class="mim-text-font">
Arngrimsson, R., Dokal, I., Luzzatto, L., Connor, J. M.
<strong>Dyskeratosis congenita: three additional families show linkage to a locus in Xq28.</strong>
J. Med. Genet. 30: 618-619, 1993.
[PubMed: 8105085]
[Full Text: https://doi.org/10.1136/jmg.30.7.618]
</p>
</li>
<li>
<p class="mim-text-font">
Batista, L. F. Z., Pech, M. F., Zhong, F. L., Nguyen, H. N., Xie, K. T., Zaug, A. J., Crary, S. M., Choi, J., Sebastiano, V., Cherry, A., Giri, N., Wernig, M., Alter, B. P., Cech, T. R., Savage, S. A., Pera, R. A. R., Artandi, S. E.
<strong>Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.</strong>
Nature 474: 399-402, 2011.
[PubMed: 21602826]
[Full Text: https://doi.org/10.1038/nature10084]
</p>
</li>
<li>
<p class="mim-text-font">
Berthet, F., Caduff, R., Schaad, U. B., Roten, H., Tuchschmid, P., Boltshauser, E., Seger, R. A.
<strong>A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia.</strong>
Europ. J. Pediat. 153: 333-338, 1994.
[PubMed: 8033921]
[Full Text: https://doi.org/10.1007/BF01956413]
</p>
</li>
<li>
<p class="mim-text-font">
Berthet, F., Tuchschmid, P., Boltshauser, E., Seger, R. A.
<strong>The Hoyeraal-Hreidarsson syndrome: don&#x27;t forget the associated immunodeficiency. (Letter)</strong>
Europ. J. Pediat. 154: 998, 1995.
[PubMed: 8801113]
[Full Text: https://doi.org/10.1007/BF01958649]
</p>
</li>
<li>
<p class="mim-text-font">
Berthou, C., Devergie, A., D'Agay, M. F., Sonsino, E., Scrobohaci, M. L., Loirat, C., Gluckman, E.
<strong>Late vascular complications after bone marrow transplantation for dyskeratosis congenita.</strong>
Brit. J. Haemat. 79: 335-336, 1991.
[PubMed: 1958493]
[Full Text: https://doi.org/10.1111/j.1365-2141.1991.tb04543.x]
</p>
</li>
<li>
<p class="mim-text-font">
Bryan, H. G., Nixon, R. K.
<strong>Dyskeratosis congenita and familial pancytopenia.</strong>
JAMA 192: 203-208, 1965.
[PubMed: 14270277]
[Full Text: https://doi.org/10.1001/jama.1965.03080160023005]
</p>
</li>
<li>
<p class="mim-text-font">
Carter, D. M., Pan, M., Gaynor, A., Sibrack, L., McGuire, J. S.
<strong>Delayed excision of psoralen-DNA cross-linking photoadducts in dyskeratosis congenita. (Abstract)</strong>
Clin. Res. 26: 568A only, 1978.
</p>
</li>
<li>
<p class="mim-text-font">
Caux, F., Aractingi, S., Sawaf, M. H., Ouhayoun, J.-P., Dubertret, L., Gluckman, E.
<strong>Dyskeratosis congenita.</strong>
Europ. J. Derm. 6: 332-334, 1996.
</p>
</li>
<li>
<p class="mim-text-font">
Civatte, J., Belaich, S., Pluquet, C.
<strong>Syndrome de Zinsser-Cole-Engman, incomplet chez deux freres.</strong>
Ann. Derm. Venereol. 105: 1071-1072, 1978.
[PubMed: 753120]
</p>
</li>
<li>
<p class="mim-text-font">
Connor, J. M., Gatherer, D., Gray, F. C., Pirrit, L. A., Affara, N. A.
<strong>Assignment of the gene for dyskeratosis congenita to Xq28.</strong>
Hum. Genet. 72: 348-351, 1986.
[PubMed: 3009302]
[Full Text: https://doi.org/10.1007/BF00290963]
</p>
</li>
<li>
<p class="mim-text-font">
Connor, J. M., Teague, R. H.
<strong>Dyskeratosis congenita: report of a large kindred.</strong>
Brit. J. Derm. 105: 321-325, 1981.
[PubMed: 7272212]
[Full Text: https://doi.org/10.1111/j.1365-2133.1981.tb01292.x]
</p>
</li>
<li>
<p class="mim-text-font">
Davidson, H. R., Connor, J. M.
<strong>Dyskeratosis congenita.</strong>
J. Med. Genet. 25: 843-846, 1988.
[PubMed: 3236366]
[Full Text: https://doi.org/10.1136/jmg.25.12.843]
</p>
</li>
<li>
<p class="mim-text-font">
DeBauche, D. M., Pai, G. S., Stanley, W. S.
<strong>Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts.</strong>
Am. J. Hum. Genet. 46: 350-357, 1990.
[PubMed: 2301400]
</p>
</li>
<li>
<p class="mim-text-font">
Devriendt, K., Matthijs, G., Legius, E., Schollen, E., Blockmans, D., van Geet, C., Degreef, H., Cassiman, J.-J., Fryns, J.-P.
<strong>Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.</strong>
Am. J. Hum. Genet. 60: 581-587, 1997.
[PubMed: 9042917]
</p>
</li>
<li>
<p class="mim-text-font">
Dokal, I., Bungey, J., Williamson, P., Oscier, D., Hows, J., Luzzatto, L.
<strong>Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements.</strong>
Blood 80: 3090-3096, 1992.
[PubMed: 1361371]
</p>
</li>
<li>
<p class="mim-text-font">
Dokal, I.
<strong>Dyskeratosis congenita: an inherited bone marrow failure syndrome.</strong>
Brit. J. Haemat. 92: 775-779, 1996.
[PubMed: 8616066]
[Full Text: https://doi.org/10.1046/j.1365-2141.1996.355881.x]
</p>
</li>
<li>
<p class="mim-text-font">
Ferraris, A. M., Forni, G. L., Mangerini, R., Gaetani, G. F.
<strong>Nonrandom X-chromosome inactivation in hemopoietic cells from carriers of dyskeratosis congenita. (Letter)</strong>
Am. J. Hum. Genet. 61: 458-461, 1997.
[PubMed: 9311754]
[Full Text: https://doi.org/10.1016/S0002-9297(07)64075-0]
</p>
</li>
<li>
<p class="mim-text-font">
Forni, G. L., Melevendi, C., Jappelli, S., Rasore-Quartino, A.
<strong>Dyskeratosis congenita: unusual presenting features within a kindred.</strong>
Pediat. Hemat. Oncol. 10: 145-149, 1993.
[PubMed: 8318369]
[Full Text: https://doi.org/10.3109/08880019309016548]
</p>
</li>
<li>
<p class="mim-text-font">
Friedland, M., Lutton, J. D., Spitzer, R., Levere, R. D.
<strong>Dyskeratosis congenita with hyoplastic anemia: a stem cell defect.</strong>
Am. J. Hemat. 20: 85-87, 1985.
[PubMed: 4025322]
[Full Text: https://doi.org/10.1002/ajh.2830200112]
</p>
</li>
<li>
<p class="mim-text-font">
Garb, J.
<strong>Dyskeratosis congenita with pigmentation, dystrophia unguium and leukoplakia oris.</strong>
AMA Arch. Derm. 77: 704-712, 1958.
[PubMed: 13544605]
[Full Text: https://doi.org/10.1001/archderm.1958.01560060070012]
</p>
</li>
<li>
<p class="mim-text-font">
Giannetti, A., Seidenari, S.
<strong>Deficit of cell-mediated immunity, chromosomal alterations and defective DNA repair in a case of dyskeratosis congenita.</strong>
Dermatologica 160: 113-117, 1980.
[PubMed: 7351274]
[Full Text: https://doi.org/10.1159/000250482]
</p>
</li>
<li>
<p class="mim-text-font">
Gorgy, A. I., Jonassaint, N. L., Stanley, S. E., Koteish, A., DeZern, A. E., Walter, J. E., Sopha, S. C., Hamilton, J. P., Hoover-Fong, J., Chen, A. R., Anders, R. A., Kamel, I. R., Armanios, M.
<strong>Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders.</strong>
Chest 148: 1019-1026, 2015.
[PubMed: 26158642]
[Full Text: https://doi.org/10.1378/chest.15-0825]
</p>
</li>
<li>
<p class="mim-text-font">
Gutman, A., Frumkin, A., Adam, A., Bloch-Shatacher, N., Rosenszajn, L. A.
<strong>X-linked dyskeratosis congenita with pancytopenia.</strong>
Arch. Derm. 114: 1667-1671, 1978.
[PubMed: 568915]
</p>
</li>
<li>
<p class="mim-text-font">
Heiss, N. S., Knight, S. W., Vulliamy, T. J., Klauck, S. M., Wiemann, S., Mason, P. J., Poustka, A., Dokal, I.
<strong>X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.</strong>
Nature Genet. 19: 32-38, 1998.
[PubMed: 9590285]
[Full Text: https://doi.org/10.1038/ng0598-32]
</p>
</li>
<li>
<p class="mim-text-font">
Hoyeraal, H. M., Lamvik, J., Moe, P. J.
<strong>Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers.</strong>
Acta Paediat. Scand. 59: 185-191, 1970.
[PubMed: 5442429]
[Full Text: https://doi.org/10.1111/j.1651-2227.1970.tb08986.x]
</p>
</li>
<li>
<p class="mim-text-font">
Hreidarsson, S., Kristjansson, K., Johannesson, G., Johannsson, J. H.
<strong>A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure.</strong>
Acta Paediat. Scand. 77: 773-775, 1988.
[PubMed: 3201986]
[Full Text: https://doi.org/10.1111/j.1651-2227.1988.tb10751.x]
</p>
</li>
<li>
<p class="mim-text-font">
Inoue, S., Mekanik, G., Mahallati, M., Zuelzer, W. W.
<strong>Dyskeratosis congenita with pancytopenia: another constitutional anemia.</strong>
Am. J. Dis. Child. 126: 389-393, 1973.
[PubMed: 4746551]
[Full Text: https://doi.org/10.1001/archpedi.1973.02110190337020]
</p>
</li>
<li>
<p class="mim-text-font">
Jonassaint, N. L., Guo, N., Califano, J. A., Montgomery, E. A., Armanios, M.
<strong>The gastrointestinal manifestations of telomere-mediated disease.</strong>
Aging Cell 12: 319-323, 2013.
[PubMed: 23279657]
[Full Text: https://doi.org/10.1111/acel.12041]
</p>
</li>
<li>
<p class="mim-text-font">
Kalb, R. E., Grossman, M. E., Hutt, C.
<strong>Avascular necrosis of bone in dyskeratosis congenita.</strong>
Am. J. Med. 80: 511-513, 1986.
[PubMed: 3953626]
[Full Text: https://doi.org/10.1016/0002-9343(86)90730-8]
</p>
</li>
<li>
<p class="mim-text-font">
Kirwan, M., Dokal, I.
<strong>Dyskeratosis congenita: a genetic disorder of many faces.</strong>
Clin. Genet. 73: 103-112, 2008.
[PubMed: 18005359]
[Full Text: https://doi.org/10.1111/j.1399-0004.2007.00923.x]
</p>
</li>
<li>
<p class="mim-text-font">
Knight, S., Vulliamy, T., Copplestone, A., Gluckman, E., Mason, P., Dokal, I.
<strong>Dyskeratosis Congenita (DC) Registry: identification of new features of DC.</strong>
Brit. J. Haemat. 103: 990-996, 1998.
[PubMed: 9886310]
[Full Text: https://doi.org/10.1046/j.1365-2141.1998.01103.x]
</p>
</li>
<li>
<p class="mim-text-font">
Knight, S. W., Heiss, N. S., Vulliamy, T. J., Aalfs, C. M., McMahon, C., Richmond, P., Jones, A., Hennekam, R. C. M., Poustka, A., Mason, P. J., Dokal, I.
<strong>Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.</strong>
Brit. J. Haemat. 107: 335-339, 1999.
[PubMed: 10583221]
[Full Text: https://doi.org/10.1046/j.1365-2141.1999.01690.x]
</p>
</li>
<li>
<p class="mim-text-font">
Knight, S. W., Vulliamy, T., Forni, G. L., Oscier, D., Mason, P. J., Dokal, I.
<strong>Fine mapping of the dyskeratosis congenita locus in Xq28.</strong>
J. Med. Genet. 33: 993-995, 1996.
[PubMed: 9004129]
[Full Text: https://doi.org/10.1136/jmg.33.12.993]
</p>
</li>
<li>
<p class="mim-text-font">
Koszewski, B. J., Hubbard, T. F.
<strong>Congenital anemia in hereditary ectodermal dysplasia.</strong>
AMA Arch. Derm. 74: 159-166, 1956.
[PubMed: 13353988]
[Full Text: https://doi.org/10.1001/archderm.1956.01550080045007]
</p>
</li>
<li>
<p class="mim-text-font">
Mahmood, F., King, M. D., Smyth, O. P., Farrell, M. A.
<strong>Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages.</strong>
Neuropediatrics 29: 302-306, 1998.
[PubMed: 10029349]
[Full Text: https://doi.org/10.1055/s-2007-973582]
</p>
</li>
<li>
<p class="mim-text-font">
Marsh, J. C. W., Will, A. J., Hows, J. M., Sartori, P., Darbyshire, P. J., Williamson, P. J., Oscier, D. G., Dexter, T. M., Testa, N. G.
<strong>&#x27;Stem cell&#x27; origin of the hematopoietic defect in dyskeratosis congenita.</strong>
Blood 79: 3138-3144, 1992.
[PubMed: 1596563]
</p>
</li>
<li>
<p class="mim-text-font">
Merchant, A., Zhao, T.-Z., Foster, C. S.
<strong>Chronic keratoconjunctivitis associated with congenital dyskeratosis and erythrokeratodermia variablis (sic): two rare genodermatoses.</strong>
Ophthalmology 105: 1286-1291, 1998.
[PubMed: 9663235]
[Full Text: https://doi.org/10.1016/S0161-6420(98)97035-X]
</p>
</li>
<li>
<p class="mim-text-font">
Milgrom, H., Stoll, H. L., Jr., Crissey, J. T.
<strong>Dyskeratosis congenita: a case with new features.</strong>
Arch. Derm. 89: 345-349, 1964.
[PubMed: 14096348]
[Full Text: https://doi.org/10.1001/archderm.1964.01590270031007]
</p>
</li>
<li>
<p class="mim-text-font">
Mitchell, J. R., Wood, E., Collins, K.
<strong>A telomerase component is defective in the human disease dyskeratosis congenita.</strong>
Nature 402: 551-555, 1999.
[PubMed: 10591218]
[Full Text: https://doi.org/10.1038/990141]
</p>
</li>
<li>
<p class="mim-text-font">
Montanaro, L., Chilla, A., Trere, D., Pession, A., Govoni, M., Tazzari, P. L, Derenzini, M.
<strong>Increased mortality rate and not impaired ribosomal biogenesis is responsible for proliferative defect in dyskeratosis congenita cell lines.</strong>
J. Invest. Derm. 118: 193-198, 2002.
[PubMed: 11851894]
[Full Text: https://doi.org/10.1046/j.0022-202x.2001.01634.x]
</p>
</li>
<li>
<p class="mim-text-font">
Ning, Y., Yongshan, Y., Pai, G. S., Gross, A. J.
<strong>Heterozygote detection through bleomycin-induced G(2) chromatid breakage in dyskeratosis congenita families.</strong>
Cancer Genet. Cytogenet. 60: 31-34, 1992.
[PubMed: 1375530]
[Full Text: https://doi.org/10.1016/0165-4608(92)90229-2]
</p>
</li>
<li>
<p class="mim-text-font">
Nobili, B., Rossi, G., De Stefano, P., Zecca, M., Giorgiani, G., Perrotta, S., Canazzio, A., Locatelli, F.
<strong>Successful umbilical cord blood transplantation in a child with dyskeratosis congenita after a fludarabine-based reduced-intensity conditioning regimen. (Letter)</strong>
Brit. J. Haemat. 119: 573-574, 2002.
[PubMed: 12406104]
[Full Text: https://doi.org/10.1046/j.1365-2141.2002.03835_2.x]
</p>
</li>
<li>
<p class="mim-text-font">
Ohga, S., Kai, T., Honada, K., Nakayama, H., Inamitsu, T., Ueda, K.
<strong>What are the essential symptoms in the Hoyeraal-Hreidarsson syndrome? (Letter)</strong>
Europ. J. Pediat. 156: 80-81, 1997.
[PubMed: 9007502]
</p>
</li>
<li>
<p class="mim-text-font">
Parry, E. M., Alder, J. K., Lee, S. S., Phillips, J. A., III, Loyd, J. E., Duggal, P., Armanios, M.
<strong>Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita.</strong>
J. Med. Genet. 48: 327-333, 2011.
[PubMed: 21415081]
[Full Text: https://doi.org/10.1136/jmg.2010.085100]
</p>
</li>
<li>
<p class="mim-text-font">
Pearson, T., Curtis, F., Al-Eyadhy, A., Al-Tamemi, S., Mazer, B., Dror, Y., Abish, S., Bale, S., Compton, J., Ray, R., Scott, P., Der Kaloustian, V. M.
<strong>An intronic mutation in DKC1 in an infant with Hoyeraal-Hreidarsson syndrome. (Letter)</strong>
Am. J. Med. Genet. 146A: 2159-2161, 2008.
[PubMed: 18627054]
[Full Text: https://doi.org/10.1002/ajmg.a.32412]
</p>
</li>
<li>
<p class="mim-text-font">
Phillips, R. J., Judge, M., Webb, D., Harper, J. I.
<strong>Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation.</strong>
Brit. J. Derm. 127: 278-280, 1992.
[PubMed: 1390173]
[Full Text: https://doi.org/10.1111/j.1365-2133.1992.tb00128.x]
</p>
</li>
<li>
<p class="mim-text-font">
Reardon, W., Hockey, A., Silberstein, P., Kendall, B., Farag, T. I., Swash, M., Stevenson, R.
<strong>Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification and CNS disease.</strong>
Am. J. Med. Genet. 52: 58-65, 1994.
[PubMed: 7977464]
[Full Text: https://doi.org/10.1002/ajmg.1320520112]
</p>
</li>
<li>
<p class="mim-text-font">
Reichel, M., Grix, A. C., Isseroff, R. R.
<strong>Dyskeratosis congenita associated with elevated fetal hemoglobin, X-linked ocular albinism, and juvenile-onset diabetes mellitus.</strong>
Pediat. Derm. 9: 103-106, 1992.
[PubMed: 1376473]
[Full Text: https://doi.org/10.1111/j.1525-1470.1992.tb01223.x]
</p>
</li>
<li>
<p class="mim-text-font">
Schratz, K. E., Flasch, D. A., Atik, C. C., Cosner, Z. L., Blackford, A. L., Yang, W., Gable, D. L., Vellanki, P. J., Xiang, Z., Gaysinskaya, V., Vonderheide, R. H., Rooper, L. M., Zhang, J., Armanios, M.
<strong>T cell immune deficiency rather than chromosome instability predisposes patients with short telomere syndromes to squamous cancers.</strong>
Cancer Cell 41: 807-817, 2023.
[PubMed: 37037617]
[Full Text: https://doi.org/10.1016/j.ccell.2023.03.005]
</p>
</li>
<li>
<p class="mim-text-font">
Selmanowitz, V. J., van Voolen, G. A.
<strong>Fanconi&#x27;s anemia and dyskeratosis congenita. (Letter)</strong>
JAMA 216: 2015 only, 1971.
[PubMed: 5108638]
[Full Text: https://doi.org/10.1001/jama.1971.03180380069022]
</p>
</li>
<li>
<p class="mim-text-font">
Sirinavin, C., Trowbridge, A. A.
<strong>Dyskeratosis congenita: clinical features and genetic aspects: report of a family and review of the literature.</strong>
J. Med. Genet. 12: 339-354, 1975.
[PubMed: 768476]
[Full Text: https://doi.org/10.1136/jmg.12.4.339]
</p>
</li>
<li>
<p class="mim-text-font">
Steier, W., van Voolen, G. A., Selmanowitz, V. J.
<strong>Dyskeratosis congenita: relationship to Fanconi&#x27;s anemia.</strong>
Blood 39: 510-521, 1972.
[PubMed: 4622206]
</p>
</li>
<li>
<p class="mim-text-font">
Vulliamy, T. J., Knight, S. W., Dokal, I., Mason, P. J.
<strong>Skewed X-inactivation in carriers of X-linked dyskeratosis congenita.</strong>
Blood 90: 2213-2216, 1997.
[PubMed: 9310472]
</p>
</li>
<li>
<p class="mim-text-font">
Walne, A. J., Vulliamy, T., Kirwan, M., Plagnol, V., Dokal, I.
<strong>Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.</strong>
Am. J. Hum. Genet. 92: 448-453, 2013.
[PubMed: 23453664]
[Full Text: https://doi.org/10.1016/j.ajhg.2013.02.001]
</p>
</li>
<li>
<p class="mim-text-font">
Wiedemann, H. P., McGuire, J., Dwyer, J. M., Sabetta, J., Gee, J. B. L., Smith, G. J. W., Loke, J.
<strong>Progressive immune failure in dyskeratosis congenita: report of an adult in whom Pneumocystis carinii and fatal disseminated candidiasis developed.</strong>
Arch. Intern. Med. 144: 397-399, 1984.
[PubMed: 6607716]
</p>
</li>
<li>
<p class="mim-text-font">
Womer, R., Clark, J. E., Wood, P., Sabio, H., Kelly, T. E.
<strong>Dyskeratosis congenita: two examples of this multisystem disorder.</strong>
Pediatrics 71: 603-607, 1983.
[PubMed: 6601257]
</p>
</li>
<li>
<p class="mim-text-font">
Wong, J. M. Y., Collins, K.
<strong>Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita.</strong>
Genes Dev. 20: 2848-2858, 2006.
[PubMed: 17015423]
[Full Text: https://doi.org/10.1101/gad.1476206]
</p>
</li>
<li>
<p class="mim-text-font">
Yaghmai, R., Kimyai-Asadi, A., Rostamiani, K., Heiss, N. S., Poustka, A., Eyaid, W., Bodurtha, J., Nousari, H. C., Hamosh, A., Metzenberg, A.
<strong>Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.</strong>
J. Pediat. 136: 390-393, 2000.
[PubMed: 10700698]
[Full Text: https://doi.org/10.1067/mpd.2000.104295]
</p>
</li>
<li>
<p class="mim-text-font">
Yoon, A., Peng, G., Brandenburger, Y., Zollo, O., Xu, W., Rego, E., Ruggero, D.
<strong>Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita.</strong>
Science 312: 902-905, 2006. Note: Erratum: Science 313: 1238 only, 2006.
[PubMed: 16690864]
[Full Text: https://doi.org/10.1126/science.1123835]
</p>
</li>
</ol>
<div>
<br />
</div>
</div>
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Contributors:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 05/17/2023<br>Cassandra L. Kniffin - updated : 05/08/2023<br>Cassandra L. Kniffin - updated : 12/3/2013<br>Cassandra L. Kniffin - updated : 9/11/2013<br>Ada Hamosh - updated : 7/26/2011<br>Cassandra L. Kniffin - reorganized : 5/26/2011<br>Cassandra L. Kniffin - updated : 5/25/2011<br>Marla J. F. O&#x27;Neill - updated : 7/10/2008<br>Patricia A. Hartz - updated : 11/9/2006<br>Ada Hamosh - updated : 6/6/2006<br>Gary A. Bellus - updated : 3/6/2003<br>Victor A. McKusick - updated : 1/10/2003<br>Ada Hamosh - updated : 4/7/2000<br>Ada Hamosh - updated : 12/1/1999<br>Victor A. McKusick - updated : 3/24/1999<br>Victor A. McKusick - updated : 2/25/1999<br>Victor A. McKusick - updated : 4/27/1998<br>Victor A. McKusick - updated : 1/21/1998<br>Victor A. McKusick - updated : 9/24/1997<br>Victor A. McKusick - updated : 3/12/1997<br>Victor A. McKusick - updated : 2/7/1997
</span>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Creation Date:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick : 6/24/1986
</span>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Edit History:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
alopez : 05/25/2023<br>ckniffin : 05/17/2023<br>ckniffin : 05/17/2023<br>carol : 05/15/2023<br>alopez : 05/10/2023<br>ckniffin : 05/08/2023<br>alopez : 07/12/2018<br>carol : 11/16/2017<br>joanna : 08/04/2016<br>alopez : 07/02/2014<br>carol : 12/6/2013<br>ckniffin : 12/3/2013<br>carol : 9/19/2013<br>ckniffin : 9/11/2013<br>alopez : 8/17/2011<br>alopez : 8/16/2011<br>alopez : 8/16/2011<br>terry : 7/26/2011<br>wwang : 6/21/2011<br>ckniffin : 6/13/2011<br>carol : 5/26/2011<br>ckniffin : 5/25/2011<br>wwang : 7/24/2009<br>terry : 6/3/2009<br>terry : 6/3/2009<br>wwang : 7/11/2008<br>terry : 7/10/2008<br>carol : 5/4/2007<br>alopez : 4/13/2007<br>mgross : 11/9/2006<br>carol : 9/6/2006<br>alopez : 6/9/2006<br>terry : 6/6/2006<br>alopez : 3/6/2003<br>tkritzer : 1/23/2003<br>tkritzer : 1/14/2003<br>tkritzer : 1/14/2003<br>terry : 1/10/2003<br>carol : 11/13/2000<br>alopez : 4/7/2000<br>carol : 2/14/2000<br>yemi : 2/11/2000<br>yemi : 2/11/2000<br>alopez : 12/1/1999<br>terry : 12/1/1999<br>carol : 3/24/1999<br>carol : 3/22/1999<br>terry : 2/25/1999<br>carol : 2/17/1999<br>alopez : 2/3/1999<br>dkim : 7/24/1998<br>alopez : 4/27/1998<br>terry : 4/27/1998<br>terry : 4/27/1998<br>mark : 1/25/1998<br>terry : 1/21/1998<br>terry : 1/21/1998<br>dholmes : 10/6/1997<br>terry : 9/30/1997<br>terry : 9/24/1997<br>mark : 7/8/1997<br>terry : 3/12/1997<br>terry : 3/12/1997<br>terry : 2/7/1997<br>terry : 2/3/1997<br>terry : 12/13/1996<br>carol : 8/23/1996<br>marlene : 8/6/1996<br>terry : 7/26/1996<br>terry : 4/21/1994<br>warfield : 3/21/1994<br>mimadm : 2/27/1994<br>carol : 8/31/1993<br>carol : 5/27/1993<br>carol : 2/1/1993
</span>
</div>
</div>
</div>
<div>
<br />
</div>
</div>
</div>
</div>
</div>
<div id="mimFooter">
<div class="container ">
<div class="row">
<br />
<br />
</div>
</div>
<div class="hidden-print mim-footer">
<div class="container">
<div class="row">
<p />
</div>
<div class="row text-center small">
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
<br />
OMIM<sup>&reg;</sup> and Online Mendelian Inheritance in Man<sup>&reg;</sup> are registered trademarks of the Johns Hopkins University.
<br />
Copyright<sup>&reg;</sup> 1966-2025 Johns Hopkins University.
</div>
</div>
</div>
<div class="visible-print-block mim-footer" style="position: relative;">
<div class="container">
<div class="row">
<p />
</div>
<div class="row text-center small">
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
<br />
OMIM<sup>&reg;</sup> and Online Mendelian Inheritance in Man<sup>&reg;</sup> are registered trademarks of the Johns Hopkins University.
<br />
Copyright<sup>&reg;</sup> 1966-2025 Johns Hopkins University.
<br />
Printed: March 5, 2025
</div>
</div>
</div>
</div>
<div class="modal fade" id="mimDonationPopupModal" tabindex="-1" role="dialog" aria-labelledby="mimDonationPopupModalTitle">
<div class="modal-dialog" role="document">
<div class="modal-content">
<div class="modal-header">
<button type="button" id="mimDonationPopupCancel" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">&times;</span></button>
<h4 class="modal-title" id="mimDonationPopupModalTitle">
OMIM Donation:
</h4>
</div>
<div class="modal-body">
<div class="row">
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
<p>
Dear OMIM User,
</p>
</div>
</div>
<div class="row">
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
<p>
To ensure long-term funding for the OMIM project, we have diversified
our revenue stream. We are determined to keep this website freely
accessible. Unfortunately, it is not free to produce. Expert curators
review the literature and organize it to facilitate your work. Over 90%
of the OMIM's operating expenses go to salary support for MD and PhD
science writers and biocurators. Please join your colleagues by making a
donation now and again in the future. Donations are an important
component of our efforts to ensure long-term funding to provide you the
information that you need at your fingertips.
</p>
</div>
</div>
<div class="row">
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
<p>
Thank you in advance for your generous support, <br />
Ada Hamosh, MD, MPH <br />
Scientific Director, OMIM <br />
</p>
</div>
</div>
</div>
<div class="modal-footer">
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
</div>
</div>
</div>
</div>
</div>
</body>
</html>
Reference in a new issue View git blame Copy permalink