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/203300

4434 lines
331 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
- #203300 - HERMANSKY-PUDLAK SYNDROME 1; HPS1
- 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=203300"><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">#203300</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/203300"><strong>Clinical Synopsis</strong></a>
</li>
<li role="presentation">
<a href="/phenotypicSeries/PS203300"> <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="#clinicalManagement">Clinical Management</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#populationGenetics">Population Genetics</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#heterogeneity">Heterogeneity</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</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="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#nomenclature">Nomenclature</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#animalModel">Animal Model</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=HERMANSKY-PUDLAK SYNDROME" 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=19195&Typ=Pat" title="Hermansky-Pudlak syndrome due to BLOC-3 deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Hermansky-Pudlak syndrome …&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=11456&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Hermansky-Pudlak syndrome&nbsp;</a></div>
</div>
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1287/" 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/8536" 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://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=203300[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=231500" title="Hermansky-Pudlak syndrome due to BLOC-3 deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Hermansky-Pudlak syndrome …</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79430" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Hermansky-Pudlak syndrome</a></div>
</div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/4ebd45cc-eacf-43a5-999b-029289ef6a3a/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:0060539" 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/203300" 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>
</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:203300" 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>ORPHA:</strong> 231500, 79430<br />
<strong>DO:</strong> 0060539<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>
203300
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
HERMANSKY-PUDLAK SYNDROME 1; HPS1
</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">
ALBINISM WITH HEMORRHAGIC DIATHESIS AND PIGMENTED RETICULOENDOTHELIAL CELLS<br />
DELTA STORAGE POOL DISEASE
</span>
</h4>
</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/10/461?start=-3&limit=10&highlight=461">
10q24.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Hermansky-Pudlak syndrome 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/203300"> 203300 </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">
HPS1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604982"> 604982 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/203300" 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/PS203300" 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/203300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/203300" 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">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</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> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
Lifelong reduced visual acuity, legal blindness to low vision <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859913&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859913</a>]</span><br /> -
Iris transillumination (variable) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859914&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859914</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400964006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400964006</a>]</span><br /> -
Macular translucency (variable) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859915&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859915</a>]</span><br /> -
Iris color blue to brown <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859916&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859916</a>]</span><br /> -
Ocular albinism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26399002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26399002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E70.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E70.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/E70.319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E70.319</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0078917&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0078917</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001107</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001107</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Epistaxis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249366005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249366005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R04.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R04.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/784.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014591&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014591</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000421" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000421</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000421" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000421</a>]</span><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">
- Gingival bleeding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86276007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86276007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017565</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000225</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000225</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cardiomyopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85898001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85898001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57809008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57809008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0878544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</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">
- Interstitial pulmonary fibrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/125565008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">125565008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887486&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887486</a>]</span><br /> -
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 />
</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> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Granulomatous colitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50440006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50440006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7620006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7620006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K50.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K50.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/555.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">555.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0156147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0156147</a>]</span><br /> -
Abdominal pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21522001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21522001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R10.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R10.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/789.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0000737&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000737</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002027</a>]</span><br /> -
Bloody diarrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95545007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95545007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151594&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151594</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025085</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025085</a>]</span><br /> -
Inflammatory bowel disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/24526004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">24526004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0021390&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0021390</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002037" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002037</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002037" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002037</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> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">586</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</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">
- Albinism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15890002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15890002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E70.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E70.30</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/E70.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E70.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001916&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001916</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001022" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001022</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001022" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001022</a>]</span><br /> -
Creamy white skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859921&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859921</a>]</span><br /> -
Tanning possible <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859922&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859922</a>]</span><br /> -
Freckles in sun-exposed areas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007603" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007603</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007603" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007603</a>]</span><br /> -
Pigmented nevi <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400096001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400096001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400010006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400010006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D22.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D22.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D22</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027962&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027962</a>, <a href="https://bioportal.bioontology.org/search?q=C3665593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003764" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003764</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000995" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000995</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000995" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000995</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">
- Hair color white to brown <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859924</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">
- Bleeding diathesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64779008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64779008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/362970003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">362970003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248250000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248250000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D68.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D68.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">286</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005779&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005779</a>, <a href="https://bioportal.bioontology.org/search?q=C1458140&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1458140</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001892" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001892</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0003256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001928" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001928</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001892" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001892</a>]</span><br /> -
Absent dense bodies in platelets <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859918</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033263</a>]</span><br /> -
Easy bruisability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/425075004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">425075004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/424131007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">424131007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423798</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000978" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000978</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000978" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000978</a>]</span><br /> -
Normal platelet counts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165555003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165555003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427564&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427564</a>]</span><br /> -
Normal prothrombin and partial chromoplastin times <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859919&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859919</a>]</span><br /> -
Prolonged bleeding time <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R79.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R79.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151529&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151529</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003010</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003010</a>]</span><br /> -
Pigmented reticuloendothelial cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859920</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">
- Hair bulb tyrosinase present <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859917&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859917</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">
- Genetic heterogeneity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br /> -
Gene frequency in Northwest Puerto Rico 1 in 18<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 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene (HPS1, <a href="/entry/604982#0001">604982.0001</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>
Hermansky-Pudlak syndrome
- <a href="/phenotypicSeries/PS203300">PS203300</a>
- 11 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/3/765?start=-3&limit=10&highlight=765"> 3q24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614072"> Hermansky-Pudlak syndrome 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/614072"> 614072 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606118"> HPS3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606118"> 606118 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/279?start=-3&limit=10&highlight=279"> 5q14.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608233"> Hermansky-Pudlak syndrome 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/608233"> 608233 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603401"> AP3B1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603401"> 603401 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/45?start=-3&limit=10&highlight=45"> 6p24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619172"> Hermansky-Pudlak syndrome 11 </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/619172"> 619172 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607289"> BLOC1S5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607289"> 607289 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/87?start=-3&limit=10&highlight=87"> 6p22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614076"> Hermansky-Pudlak syndrome 7 </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/614076"> 614076 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607145"> DTNBP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607145"> 607145 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/461?start=-3&limit=10&highlight=461"> 10q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/203300"> Hermansky-Pudlak syndrome 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/203300"> 203300 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604982"> HPS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604982"> 604982 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/507?start=-3&limit=10&highlight=507"> 10q24.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614075"> Hermansky-Pudlak syndrome 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/614075"> 614075 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607522"> HPS6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607522"> 607522 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/221?start=-3&limit=10&highlight=221"> 11p15.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614074"> Hermansky-Pudlak syndrome 5 </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/614074"> 614074 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607521"> HPS5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607521"> 607521 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/185?start=-3&limit=10&highlight=185"> 15q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614171"> Hermansky-Pudlak syndrome 9 </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/614171"> 614171 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604310"> BLOC1S6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604310"> 604310 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/76?start=-3&limit=10&highlight=76"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617050"> ?Hermansky-Pudlak syndrome 10 </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/617050"> 617050 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607246"> AP3D1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607246"> 607246 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/813?start=-3&limit=10&highlight=813"> 19q13.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614077"> Hermansky-Pudlak syndrome 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/614077"> 614077 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609762"> BLOC1S3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609762"> 609762 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/130?start=-3&limit=10&highlight=130"> 22q12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614073"> Hermansky-Pudlak syndrome 4 </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/614073"> 614073 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606682"> HPS4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606682"> 606682 </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 Hermansky-Pudlak syndrome-1 (HPS1) is caused by homozygous or compound heterozygous mutation in the HPS1 gene (<a href="/entry/604982">604982</a>) on chromosome 10q24.</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>Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (<a href="#19" class="mim-tip-reference" title="Oh, J., Ho, L., Ala-Mello, S., Amato, D., Armstrong, L., Bellucci, S., Carakushansky, G., Ellis, J. P., Fong, C.-T., Green, J. S., Heon, E., Legius, E., Levin, A. V., Nieuwenhuis, H. K., Pinckers, A., Tamura, N., Whiteford, M. L., Yamasaki, H., Spritz, R. A. &lt;strong&gt;Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.&lt;/strong&gt; Am. J. Hum. Genet. 62: 593-598, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9497254/&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;9497254&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301757&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="9497254">Oh et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9497254" 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>Genetic Heterogeneity of Hermansky-Pudlak Syndrome</em></strong></p><p>
HPS2 (<a href="/entry/608233">608233</a>) is caused by mutation in the AP3B1 gene (<a href="/entry/603401">603401</a>) on chromosome 5q14. HPS3 (<a href="/entry/614072">614072</a>) is caused by mutation in the HPS3 gene (<a href="/entry/606118">606118</a>) on chromosome 3q24. HPS4 (<a href="/entry/614073">614073</a>) is caused by mutation in the HPS4 gene (<a href="/entry/606682">606682</a>) on chromosome 22q12. HPS5 (<a href="/entry/614074">614074</a>) is caused by mutation in the HPS5 gene (<a href="/entry/607521">607521</a>) on chromosome 11p14. HPS6 (<a href="/entry/614075">614075</a>) is caused by mutation in the HPS6 gene (<a href="/entry/607522">607522</a>) on chromosome 10q24. HPS7 (<a href="/entry/614076">614076</a>) is caused by mutation in the DTNBP1 gene (<a href="/entry/607145">607145</a>) on chromosome 6p22. HPS8 (<a href="/entry/614077">614077</a>) is caused by mutation in the BLOC1S3 gene (<a href="/entry/609762">609762</a>) on chromosome 19q13. HPS9 (<a href="/entry/614171">614171</a>) is caused by mutation in the PLDN gene (<a href="/entry/604310">604310</a>) on chromosome 15q21. HPS10 (<a href="/entry/617050">617050</a>) is caused by mutation in the AP3D1 gene (<a href="/entry/607246">607246</a>) on chromosome 19p13. HPS11 (<a href="/entry/619172">619172</a>) is caused by mutation in the BLOC1S5 gene (<a href="/entry/607289">607289</a>) on chromosome 6p24.</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="#9" class="mim-tip-reference" title="Hermansky, F., Pudlak, P. &lt;strong&gt;Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies.&lt;/strong&gt; Blood 14: 162-169, 1959.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13618373/&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;13618373&lt;/a&gt;]" pmid="13618373">Hermansky and Pudlak (1959)</a> described 2 unrelated patients with albinism, a lifelong bleeding tendency, and peculiar pigmented reticular cells in the bone marrow as well as in lymph node and liver biopsies. One patient was male and the other female; both were 33 years old. After the woman's death, she was found to have large amounts of the pigment in reticuloendothelial cells everywhere and in the walls of small blood vessels (<a href="#10" class="mim-tip-reference" title="Hermansky, F. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Prague, Czechoslovakia 1963."None>Hermansky, 1963</a>). Two families, each with 2 sibs affected with this syndrome, had come to the attention of <a href="#10" class="mim-tip-reference" title="Hermansky, F. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Prague, Czechoslovakia 1963."None>Hermansky (1963)</a>. This syndrome is clearly different from the Chediak-Higashi syndrome (<a href="/entry/214500">214500</a>) because no qualitative changes of leukocytes are found in Hermansky syndrome and no pigmented macrophages are found in Chediak-Higashi syndrome. Report of a family by <a href="#27" class="mim-tip-reference" title="Verloop, M. C., Von Wieringen, A., Vuylsteke, J., Hart, H. C., Huizinga, J. &lt;strong&gt;Albinismus, hemorrhagische Diathese und anormale Pigmentzellen im Knockenmark.&lt;/strong&gt; Med. Klin. 59: 408-412, 1964.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14178495/&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;14178495&lt;/a&gt;]" pmid="14178495">Verloop et al. (1964)</a> supports this conclusion. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14178495+13618373" 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="Logan, L. J., Rapaport, S. I., Maher, I. &lt;strong&gt;Albinism and abnormal platelet function.&lt;/strong&gt; New Eng. J. Med. 284: 1340-1345, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5576453/&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;5576453&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM197106172842402&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="5576453">Logan et al. (1971)</a> described a patient with albinism and bleeding diathesis in whom a defect in platelet ADP release was demonstrated. Prolonged bleeding time and defective platelet aggregation were found. Two other patients with albinism and a defect in ADP release had been reported, as well as 12 others with prolonged bleeding. In 6 of 7 in whom the bone marrow was studied, histiocytes were found to contain abnormal granules. <a href="#28" class="mim-tip-reference" title="Weiss, H. J., Witte, L. D., Kaplan, K. L., Lages, B. A., Chernoff, A., Nossel, H. L., Goodman, D. S., Baumgartner, H. R. &lt;strong&gt;Heterogeneity in storage pool deficiency: studies in granule-bound substances in 18 patients including variants deficient in alpha-granules, platelet factor 4, beta-thromboglobin, and platelet-derived growth factor.&lt;/strong&gt; Blood 54: 1296-1319, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/508939/&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;508939&lt;/a&gt;]" pmid="508939">Weiss et al. (1979)</a> studied the platelet defect, which they called delta storage pool disease, in 7 patients; 6, including 3 sisters, were of Puerto Rican ancestry. Four other unrelated patients had the same platelet defect but did not have albinism. <a href="#3" class="mim-tip-reference" title="Depinho, R. A., Kaplan, K. L. &lt;strong&gt;The Hermansky-Pudlak syndrome: report of three cases and review of pathophysiology and management considerations.&lt;/strong&gt; Medicine 64: 192-202, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3921802/&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;3921802&lt;/a&gt;]" pmid="3921802">Depinho and Kaplan (1985)</a> reported 3 affected sibs from a consanguineous Puerto Rican kindred. The proband, a 31-year-old woman with 2 children, had fatal restrictive lung disease, a complication pointed out by others (<a href="#2" class="mim-tip-reference" title="Davies, B. H., Tuddenham, E. G. D. &lt;strong&gt;Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect: a new syndrome.&lt;/strong&gt; Quart. J. Med. 45: 219-232, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/940919/&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;940919&lt;/a&gt;]" pmid="940919">Davies and Tuddenham, 1976</a>; <a href="#7" class="mim-tip-reference" title="Garay, S. M., Gardella, J. E., Fazzini, E. P., Goldring, R. M. &lt;strong&gt;Hermansky-Pudlak syndrome: pulmonary manifestations of a ceroid storage disorder.&lt;/strong&gt; Am. J. Med. 66: 737-747, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/443250/&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;443250&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9343(79)91111-2&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="443250">Garay et al., 1979</a>). Indeed, the first patient (<a href="#9" class="mim-tip-reference" title="Hermansky, F., Pudlak, P. &lt;strong&gt;Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies.&lt;/strong&gt; Blood 14: 162-169, 1959.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13618373/&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;13618373&lt;/a&gt;]" pmid="13618373">Hermansky and Pudlak, 1959</a>) was a 33-year-old farmer who developed chronic interstitial pulmonary fibrosis. <a href="#2" class="mim-tip-reference" title="Davies, B. H., Tuddenham, E. G. D. &lt;strong&gt;Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect: a new syndrome.&lt;/strong&gt; Quart. J. Med. 45: 219-232, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/940919/&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;940919&lt;/a&gt;]" pmid="940919">Davies and Tuddenham (1976)</a> described 4 sibs with HPS-associated pulmonary fibrosis. The onset of pulmonary fibrosis is most often in the third or fourth decade. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3921802+5576453+940919+13618373+443250+508939" 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>Inflammatory bowel disease, with onset of symptoms between 12 and 30 years of age, in HPS patients has been reported by several authors (e.g., <a href="#23" class="mim-tip-reference" title="Schinella, R. A., Greco, M. A., Cobert, B. L., Denmark, L. W., Cox, R. P. &lt;strong&gt;Hermansky-Pudlak syndrome with granulomatous colitis.&lt;/strong&gt; Ann. Intern. Med. 92: 20-23, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7350869/&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;7350869&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.7326/0003-4819-92-1-20&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="7350869">Schinella et al., 1980</a>). Most of the patients with HPS-related bowel disease have been Puerto Rican. Response to medical therapy was said to be poor. <a href="#16" class="mim-tip-reference" title="Mahadeo, R., Markowitz, J., Fisher, S., Daum, F. &lt;strong&gt;Hermansky-Pudlak syndrome with granulomatous colitis in children.&lt;/strong&gt; J. Pediat. 118: 904-906, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1674961/&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;1674961&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(05)82204-8&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="1674961">Mahadeo et al. (1991)</a> reported 2 children, aged 7 years and 3 years, with granulomatous colitis in association with HPS. One of the children was Puerto Rican. Epistaxis is the most frequent hemorrhagic manifestation. All 3 sibs studied by <a href="#3" class="mim-tip-reference" title="Depinho, R. A., Kaplan, K. L. &lt;strong&gt;The Hermansky-Pudlak syndrome: report of three cases and review of pathophysiology and management considerations.&lt;/strong&gt; Medicine 64: 192-202, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3921802/&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;3921802&lt;/a&gt;]" pmid="3921802">Depinho and Kaplan (1985)</a> had recurrent infections and were anergic. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3921802+1674961+7350869" 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="#13" class="mim-tip-reference" title="Kinnear, P. E., Tuddenham, E. G. D. &lt;strong&gt;Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome.&lt;/strong&gt; Brit. J. Ophthal. 69: 904-908, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4084482/&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;4084482&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.69.12.904&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="4084482">Kinnear and Tuddenham (1985)</a> reported 4 cases of Hermansky-Pudlak syndrome. Cutaneous malignant melanoma developed in 1. The ocular features were similar to those of tyrosinase-positive oculocutaneous albinism (<a href="/entry/203200">203200</a>). The triad of the syndrome is albinism, platelets lacking dense bodies, and storage of ceroid-like material in tissues. The manifestations of the storage disease include ulcerative colitis, restrictive lung disease, kidney failure, and cardiomyopathy. The autofluorescent material stored in HPS is histochemically similar to that stored in neuronal ceroid lipofuscinosis (<a href="/entry/204200">204200</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4084482" 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="#21" class="mim-tip-reference" title="Sandberg-Gertzen, H., Eid, R., Jarnerot G. &lt;strong&gt;Hermansky-Pudlak syndrome with colitis and pulmonary fibrosis.&lt;/strong&gt; Scand. J. Gastroent. 34: 1055-1056, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10563678/&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;10563678&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1080/003655299750025183&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="10563678">Sandberg-Gertzen et al. (1999)</a> described HPS in a mentally retarded patient with albinism and mild bleeding diathesis; the course was complicated by granulomatous colitis refractory to medical treatment and progressive, fatal pulmonary fibrosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10563678" 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="#8" class="mim-tip-reference" title="Hearing, V. J. &lt;strong&gt;Unraveling the melanocyte. (Editorial)&lt;/strong&gt; Am. J. Hum. Genet. 52: 1-7, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8434579/&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;8434579&lt;/a&gt;]" pmid="8434579">Hearing (1993)</a> reviewed the complexities of melanogenesis, including the parallels between mouse and the human. The complex nature of the process was anticipated since, in the mouse, more than 150 distinct mutations affect visible pigmentation, and those occur at more than 50 genetic loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8434579" 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>The Hermansky-Pudlak syndrome observed in the isolated Swiss Alps village (<a href="#14" class="mim-tip-reference" title="Lattion, F., Schneider, P., Da Prada, M., Lorez, H. P., Richards, J. G., Picotti, G. B., Frenck, E. &lt;strong&gt;Syndrome d&#x27;Hermansky-Pudlak dans un village valaisan.&lt;/strong&gt; Helv. Paediat. Acta 38: 495-512, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6668200/&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;6668200&lt;/a&gt;]" pmid="6668200">Lattion et al., 1983</a> and <a href="#22" class="mim-tip-reference" title="Schallreuter, K. U., Frenk, E., Wolfe, L. S., Witkop, C. J., Wood, J. M. &lt;strong&gt;Hermansky-Pudlak syndrome in a Swiss population.&lt;/strong&gt; Dermatology 187: 248-256, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8274781/&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;8274781&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000247258&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="8274781">Schallreuter et al., 1993</a>) usually shows a relatively mild clinical course with normal life expectancy, and the patients lack manifestations of ceroid storage. The 2 most common complications associated with ceroid deposition in the usual form of HPS are pulmonary fibrosis and granulomatous colitis; the major cause of death in HPS after 1 year of age is pulmonary fibrosis. There is striking variability in pigmentation, which can vary from an almost total absence of pigment to an amount that is nearly normal. Obligate heterozygotes are normally pigmented. The third feature of HPS is the absence of dense bodies in the platelets. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6668200+8274781" 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 immunofluorescence with antibodies against CD63 (<a href="/entry/155740">155740</a>), <a href="#17" class="mim-tip-reference" title="Nishibori, M., Cham, B., McNicol, A., Shalev, A., Jain, N., Gerrard, J. M. &lt;strong&gt;The protein CD63 is in platelet dense granules, is deficient in a patient with Hermansky-Pudlak syndrome, and appears identical to granulophysin.&lt;/strong&gt; J. Clin. Invest. 91: 1775-1782, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7682577/&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;7682577&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI116388&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="7682577">Nishibori et al. (1993)</a> demonstrated deficiency of CD63 (<a href="/entry/155740">155740</a>) in HPS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7682577" 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>Vitamin E was thought to be of some benefit for the hemorrhagic problem in patients with HPS (<a href="#3" class="mim-tip-reference" title="Depinho, R. A., Kaplan, K. L. &lt;strong&gt;The Hermansky-Pudlak syndrome: report of three cases and review of pathophysiology and management considerations.&lt;/strong&gt; Medicine 64: 192-202, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3921802/&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;3921802&lt;/a&gt;]" pmid="3921802">Depinho and Kaplan, 1985</a>). <a href="#30" class="mim-tip-reference" title="Wijermans, P. W., van Dorp, D. B. &lt;strong&gt;Hermansky-Pudlak syndrome: correction of bleeding time by 1-desamino-8D-arginine vasopressin.&lt;/strong&gt; Am. J. Hemat. 30: 154-157, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2916560/&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;2916560&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajh.2830300307&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="2916560">Wijermans and van Dorp (1989)</a> reported that 1-desamino-8D-arginine vasopressin (dDAVP) is useful in the treatment of some cases of HPS. The authors suggested that it be combined with drugs that inhibit fibrinolysis because dDAVP also increases plasminogen activator activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2916560+3921802" 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="populationGenetics" class="mim-anchor"></a>
<h4 href="#mimPopulationGeneticsFold" id="mimPopulationGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimPopulationGeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<div id="mimPopulationGeneticsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>HPS may be the most frequent single-gene disorder in Puerto Rico and is frequent in an isolated mountain village high in the Swiss Alps (<a href="#22" class="mim-tip-reference" title="Schallreuter, K. U., Frenk, E., Wolfe, L. S., Witkop, C. J., Wood, J. M. &lt;strong&gt;Hermansky-Pudlak syndrome in a Swiss population.&lt;/strong&gt; Dermatology 187: 248-256, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8274781/&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;8274781&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000247258&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="8274781">Schallreuter et al., 1993</a>). <a href="#32" class="mim-tip-reference" title="Witkop, C. J., Jr. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Minneapolis, Minn. 2/1986."None>Witkop (1986)</a> estimated a frequency of about 1 in 2,000 among Puerto Ricans. <a href="#31" class="mim-tip-reference" title="Wildenberg, S. C., Oetting, W. S., Almodovar, C., Krumwiede, M., White, J. G., King, R. A. &lt;strong&gt;A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2.&lt;/strong&gt; Am. J. Hum. Genet. 57: 755-765, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7573033/&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;7573033&lt;/a&gt;]" pmid="7573033">Wildenberg et al. (1995)</a> stated that in Puerto Rico, HPS has a frequency of about 1 in 1,800, giving a carrier frequency estimated to be 1 in 21. The origin of HPS in Puerto Rico has been traced to a region of southern Spain, and a connection to cases in Holland was considered likely (<a href="#12" class="mim-tip-reference" title="King, R. A. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Minneapolis, Minn. 6/15/1987."None>King, 1987</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7573033+8274781" 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="heterogeneity" class="mim-anchor"></a>
<h4 href="#mimHeterogeneityFold" id="mimHeterogeneityToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimHeterogeneityToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Heterogeneity</strong>
</span>
</h4>
</div>
<div id="mimHeterogeneityFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>Evidence of locus heterogeneity for HPS was provided by findings of homozygosity analysis of 4 inbred non-Puerto Rican HPS patients in whom <a href="#19" class="mim-tip-reference" title="Oh, J., Ho, L., Ala-Mello, S., Amato, D., Armstrong, L., Bellucci, S., Carakushansky, G., Ellis, J. P., Fong, C.-T., Green, J. S., Heon, E., Legius, E., Levin, A. V., Nieuwenhuis, H. K., Pinckers, A., Tamura, N., Whiteford, M. L., Yamasaki, H., Spritz, R. A. &lt;strong&gt;Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.&lt;/strong&gt; Am. J. Hum. Genet. 62: 593-598, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9497254/&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;9497254&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301757&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="9497254">Oh et al. (1998)</a> detected no mutations in the HPS1 gene. If these patients were homozygous (by descent) for occult HPS1 mutations, they should also have been homozygous for the polymorphic markers that <a href="#19" class="mim-tip-reference" title="Oh, J., Ho, L., Ala-Mello, S., Amato, D., Armstrong, L., Bellucci, S., Carakushansky, G., Ellis, J. P., Fong, C.-T., Green, J. S., Heon, E., Legius, E., Levin, A. V., Nieuwenhuis, H. K., Pinckers, A., Tamura, N., Whiteford, M. L., Yamasaki, H., Spritz, R. A. &lt;strong&gt;Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.&lt;/strong&gt; Am. J. Hum. Genet. 62: 593-598, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9497254/&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;9497254&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301757&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="9497254">Oh et al. (1998)</a> had found immediately flanking the gene. However, 3 of these patients were heterozygous for these markers, thus apparently excluding the HPS1 locus in these cases. Furthermore, genetic linkage analysis of the extended family of 1 of these 4 patients, as well as in another non-inbred family, showed no evidence for linkage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9497254" 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><a href="#5" class="mim-tip-reference" title="Fukai, K., Oh, J., Frenk, E., Almodovar, C., Spritz, R. A. &lt;strong&gt;Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3.&lt;/strong&gt; Hum. Molec. Genet. 4: 1665-1669, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8541858/&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;8541858&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/4.9.1665&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="8541858">Fukai et al. (1995)</a> found that HPS maps to chromosome 10. They used the linkage disequilibrium mapping approach to localize the HPS1 gene (<a href="/entry/604982">604982</a>) in 2 groups in whom the disorder is particularly frequent: a group in Puerto Rico and a group in an isolated village in the Swiss Alps. They localized the HPS1 gene in both groups to a 0.6-cM interval in chromosome segment 10q23.1-q23.2. <a href="#31" class="mim-tip-reference" title="Wildenberg, S. C., Oetting, W. S., Almodovar, C., Krumwiede, M., White, J. G., King, R. A. &lt;strong&gt;A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2.&lt;/strong&gt; Am. J. Hum. Genet. 57: 755-765, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7573033/&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;7573033&lt;/a&gt;]" pmid="7573033">Wildenberg et al. (1995)</a> likewise mapped the HPS1 gene to 10q. They collected blood samples from a relatively homogeneous population in Puerto Rico. Analysis of pooled DNA samples allowed them to screen the genome rapidly for candidate loci, and identify linkage with a marker on 10q. The result was verified with additional markers, and a maximum lod score of 5.07 at theta = 0.001 was calculated for marker D10S198. Haplotype analysis placed the HPS1 gene in a region of approximately 14 cM that contains the markers D10S198 and D10S1239. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7573033+8541858" 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>The transmission pattern of HPS1 in the families reported by <a href="#18" class="mim-tip-reference" title="Oh, J., Bailin, T., Fukai, K., Feng, G. H., Ho, L., Mao, J., Frenk, E., Tamura, N., Spritz, R. A. &lt;strong&gt;Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.&lt;/strong&gt; Nature Genet. 14: 300-306, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8896559/&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;8896559&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1196-300&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="8896559">Oh et al. (1996)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8896559" 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><a href="#18" class="mim-tip-reference" title="Oh, J., Bailin, T., Fukai, K., Feng, G. H., Ho, L., Mao, J., Frenk, E., Tamura, N., Spritz, R. A. &lt;strong&gt;Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.&lt;/strong&gt; Nature Genet. 14: 300-306, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8896559/&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;8896559&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1196-300&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="8896559">Oh et al. (1996)</a> identified the HPS1 gene by positional cloning and found homozygous frameshifts in this gene in Puerto Rican, Swiss, Irish, and Japanese HPS patients. The HPS1 polypeptide is a novel transmembrane protein that is likely to be a component of multiple cytoplasmic organelles and is apparently crucial for their normal development and function. The different clinical phenotypes associated with different HPS1 frameshifts suggested that differentially truncated HPS1 polypeptides may have somewhat different consequences for subcellular function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8896559" 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="#19" class="mim-tip-reference" title="Oh, J., Ho, L., Ala-Mello, S., Amato, D., Armstrong, L., Bellucci, S., Carakushansky, G., Ellis, J. P., Fong, C.-T., Green, J. S., Heon, E., Legius, E., Levin, A. V., Nieuwenhuis, H. K., Pinckers, A., Tamura, N., Whiteford, M. L., Yamasaki, H., Spritz, R. A. &lt;strong&gt;Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.&lt;/strong&gt; Am. J. Hum. Genet. 62: 593-598, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9497254/&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;9497254&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301757&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="9497254">Oh et al. (1998)</a> performed mutation analysis on 44 unrelated Puerto Rican and 24 unrelated non-Puerto Rican HPS patients. A 16-bp frameshift duplication (<a href="/entry/604982#0001">604982.0001</a>), the result of an apparent founder effect, was nearly ubiquitous among Puerto Rican patients. A frameshift at codon 322 (<a href="/entry/604982#0002">604982.0002</a>) may be the most frequent HPS1 mutation in Europeans. <a href="#19" class="mim-tip-reference" title="Oh, J., Ho, L., Ala-Mello, S., Amato, D., Armstrong, L., Bellucci, S., Carakushansky, G., Ellis, J. P., Fong, C.-T., Green, J. S., Heon, E., Legius, E., Levin, A. V., Nieuwenhuis, H. K., Pinckers, A., Tamura, N., Whiteford, M. L., Yamasaki, H., Spritz, R. A. &lt;strong&gt;Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.&lt;/strong&gt; Am. J. Hum. Genet. 62: 593-598, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9497254/&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;9497254&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301757&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="9497254">Oh et al. (1998)</a> also described 6 novel HPS1 mutations: a 5-prime splice-junction mutation of IVS5, 3 frameshifts, a nonsense mutation, and a 1-codon in-frame deletion. These mutations defined an apparent frameshift hotspot at codons 321-322. Overall, however, they detected mutations in the HPS1 gene in only about half of non-Puerto Rican patients, and presented evidence suggesting locus heterogeneity for HPS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9497254" 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="genotypePhenotypeCorrelations" class="mim-anchor"></a>
<h4 href="#mimGenotypePhenotypeCorrelationsFold" id="mimGenotypePhenotypeCorrelationsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimGenotypePhenotypeCorrelationsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<div id="mimGenotypePhenotypeCorrelationsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>All identified patients with HPS in northwest Puerto Rico were found to be homozygous for the 16-bp duplication in exon 15 of the HPS1 gene (<a href="/entry/604982#0001">604982.0001</a>). <a href="#6" class="mim-tip-reference" title="Gahl, W. A., Brantly, M., Kaiser-Kupfer, M. I., Iwata, F., Hazelwood, S., Shotelersuk, V., Duffy, L. F., Kuehl, E. M., Troendle, J., Bernardini, I. &lt;strong&gt;Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome).&lt;/strong&gt; New Eng. J. Med. 338: 1258-1264, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9562579/&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;9562579&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199804303381803&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="9562579">Gahl et al. (1998)</a> compared the clinical and laboratory characteristics of these patients with those of patients without the 16-bp duplication. They studied 49 patients: 27 Puerto Ricans and 22 patients from mainland United States who were not of Puerto Rican descent. The diagnosis was based on the presence of albinism and the absence of platelet dense bodies. Homozygosity for the 16-bp duplication was found in 25 of the 27 Puerto Rican patients, whereas none of the non-Puerto Rican patients carried this mutation. Like the patients without the duplication, the patients with the 16-bp duplication had a broad variation in pigmentation. Nine of 16 adults with the duplication, but none of the 10 without it, had a diffusing capacity for carbon monoxide that was less than 80% of the predicted value. High-resolution computed tomography in all 12 patients with the 16-bp duplication revealed minimal fibrosis in 8, moderate fibrosis in 1, severe fibrosis in 1, and no fibrosis in 2. Computed tomography in 8 patients without the duplication revealed minimal fibrosis in 3 and no fibrosis in the rest. Inflammatory bowel disease developed in 8 patients (4 in each group) between 3 and 25 years of age. Thus, the 16-bp duplication in exon 15 of the HPS1 gene, which has been found only in Puerto Rican patients, is associated with a broad range of pigmentation and an increased risk of restrictive lung disease in adults. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9562579" 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="#11" class="mim-tip-reference" title="Iwata, F., Reed, G. F., Caruso, R. C., Kuehl, E. M., Gahl, W. A., Kaiser-Kupfer, M. I. &lt;strong&gt;Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism.&lt;/strong&gt; Ophthalmology 107: 783-789, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10768343/&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;10768343&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0161-6420(99)00150-5&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="10768343">Iwata et al. (2000)</a> studied 2 groups of patients with Hermansky-Pudlak syndrome: those with the 16-bp duplication in the HPS1 gene on chromosome 10q23 (<a href="/entry/604982#0001">604982.0001</a>), and those without the duplication. The visual acuity in the better eye was not statistically significantly different between the 2 groups. Although the authors attempted to compare visual acuity and iris transillumination versus visual acuity and macular translucency, they concluded that the variability in visual acuity was too great. The associations studied were not large enough for useful prediction of vision based on the amount of pigmentation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10768343" 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>Of 65 patients, aged 3 to 54 years, in whom the diagnosis of HPS had been made on the basis of absence of platelet dense bodies in individuals with albinism combined with a bleeding diathesis, <a href="#26" class="mim-tip-reference" title="Toro, J., Turner, M., Gahl, W. A. &lt;strong&gt;Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene.&lt;/strong&gt; Arch. Derm. 135: 774-780, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10411151/&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;10411151&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archderm.135.7.774&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="10411151">Toro et al. (1999)</a> found the 16-bp duplication in HPS1 by PCR amplification in 40 who were homozygous, whereas the other 25 lacked the duplication. All patients with the duplication were from northwest Puerto Rico; all patients without the duplication were non-Puerto Rican, except 4 from central Puerto Rico. Both groups displayed skin color ranging from white to light brown, hair color ranging from white to brown, and eye color ranging from blue to brown. New findings in both groups of patients with HPS were melanocytic nevi with dysplastic features, acanthosis nigricans-like lesions in the axilla and neck, and trichomegaly. In 80% of patients with the duplication, features of solar damage were found, including multiple freckles, stellate lentigines, actinic keratoses, and, occasionally, basal cell or squamous cell carcinomas. Only 8% of patients lacking the 16-bp duplication displayed these findings. As a group, the patients with the duplication lived closer to the equator than those without the duplication, but this was not thought to explain the difference entirely. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10411151" 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="nomenclature" class="mim-anchor"></a>
<h4 href="#mimNomenclatureFold" id="mimNomenclatureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimNomenclatureToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<div id="mimNomenclatureFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>In a review of the trafficking of organellar-specific proteins to melanosomes, lysosomes, and cytoplasmic granules, <a href="#24" class="mim-tip-reference" title="Spritz, R. A. &lt;strong&gt;Multi-organellar disorders of pigmentation: tied up in traffic.&lt;/strong&gt; Clin. Genet. 55: 309-317, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10422800/&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;10422800&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1034/j.1399-0004.1999.550503.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="10422800">Spritz (1999)</a> proposed that the Hermansky-Pudlak syndrome due to mutations in the AP3B1 gene be named HPS2 and the original syndrome be called HPS1. Hermansky-Pudlak syndrome due to mutation in a gene on 3q24 (<a href="/entry/606118">606118</a>) is known as HPS3 (<a href="#1" class="mim-tip-reference" title="Anikster, Y., Huizing, M., White, J., Shevchenko, Y. O., Fitzpatrick, D. L., Touchman, J. W., Compton, J. G., Bale, S. J., Swank, R. T., Gahl, W. A., Toro, J. R. &lt;strong&gt;Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.&lt;/strong&gt; Nature Genet. 28: 376-380, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11455388/&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;11455388&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng576&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="11455388">Anikster et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11455388+10422800" 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="animalModel" class="mim-anchor"></a>
<h4 href="#mimAnimalModelFold" id="mimAnimalModelToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimAnimalModelToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<div id="mimAnimalModelFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>Two genetically distinct mouse loci, 'pale ear' (ep) and 'ruby-eye' (ru), both with mutant phenotypes similar to human HPS, map close together in the homologous region of murine chromosome 19, which suggested that one of these loci might be homologous to human HPS1. <a href="#4" class="mim-tip-reference" title="Feng, G. H., Bailin, T., Oh, J., Spritz, R. A. &lt;strong&gt;Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare &#x27;AT-AC&#x27; intron.&lt;/strong&gt; Hum. Molec. Genet. 6: 793-797, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9158155/&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;9158155&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/6.5.793&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="9158155">Feng et al. (1997)</a> characterized the mouse Hps1 cDNA and genomic locus, and identified pathologic Hps1 gene mutations in ep but not in ru mice, establishing mouse 'pale ear' as an animal model for human HPS. (The human homolog of mouse ru is HPS6, <a href="/entry/607522">607522</a>). The phenotype of homozygous ep mutant mice encompasses those of both HPS and Chediak-Higashi syndrome, suggesting that these disorders may be closely related. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9158155" 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="#Rendu1978" class="mim-tip-reference" title="Rendu, F., Breton-Gorius, J., Trugman, G., Castro-Melaspina, H., Andrieu, J.-M., Bereziat, G., Libret, M., Caen, J. P. &lt;strong&gt;Studies on a new variant of the Hermansky-Pudlak syndrome: quantitative, ultrastructural, and functional abnormalities of the platelet-dense bodies associated with a phospholipase A defect.&lt;/strong&gt; Am. J. Hemat. 4: 387-399, 1978.">Rendu et al. (1978)</a>; <a href="#Takahashi1984" class="mim-tip-reference" title="Takahashi, A., Yokoyama, T. &lt;strong&gt;Hermansky-Pudlak syndrome with special reference to lysosomal dysfunction: a case report and review of the literature.&lt;/strong&gt; Virchows Arch. A Path. Anat. Histol. 402: 247-258, 1984.">Takahashi and Yokoyama (1984)</a>; <a href="#White1971" class="mim-tip-reference" title="White, J. G., Edson, J. R., Desnick, S. J., Witkop, C. J., Jr. &lt;strong&gt;Studies of platelets in a variant of the Hermansky-Pudlak syndrome.&lt;/strong&gt; Am. J. Path. 63: 319-332, 1971.">White et al.
(1971)</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="Anikster2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Anikster, Y., Huizing, M., White, J., Shevchenko, Y. O., Fitzpatrick, D. L., Touchman, J. W., Compton, J. G., Bale, S. J., Swank, R. T., Gahl, W. A., Toro, J. R.
<strong>Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.</strong>
Nature Genet. 28: 376-380, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11455388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11455388</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11455388" 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/ng576" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Davies1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Davies, B. H., Tuddenham, E. G. D.
<strong>Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect: a new syndrome.</strong>
Quart. J. Med. 45: 219-232, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/940919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">940919</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=940919" 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="3" class="mim-anchor"></a>
<a id="Depinho1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Depinho, R. A., Kaplan, K. L.
<strong>The Hermansky-Pudlak syndrome: report of three cases and review of pathophysiology and management considerations.</strong>
Medicine 64: 192-202, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3921802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3921802</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3921802" 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="4" class="mim-anchor"></a>
<a id="Feng1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Feng, G. H., Bailin, T., Oh, J., Spritz, R. A.
<strong>Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron.</strong>
Hum. Molec. Genet. 6: 793-797, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9158155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9158155</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9158155" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/6.5.793" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Fukai1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fukai, K., Oh, J., Frenk, E., Almodovar, C., Spritz, R. A.
<strong>Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3.</strong>
Hum. Molec. Genet. 4: 1665-1669, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541858</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8541858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/4.9.1665" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Gahl1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gahl, W. A., Brantly, M., Kaiser-Kupfer, M. I., Iwata, F., Hazelwood, S., Shotelersuk, V., Duffy, L. F., Kuehl, E. M., Troendle, J., Bernardini, I.
<strong>Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome).</strong>
New Eng. J. Med. 338: 1258-1264, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9562579/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9562579</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9562579" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM199804303381803" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Garay1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Garay, S. M., Gardella, J. E., Fazzini, E. P., Goldring, R. M.
<strong>Hermansky-Pudlak syndrome: pulmonary manifestations of a ceroid storage disorder.</strong>
Am. J. Med. 66: 737-747, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/443250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">443250</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=443250" 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(79)91111-2" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Hearing1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hearing, V. J.
<strong>Unraveling the melanocyte. (Editorial)</strong>
Am. J. Hum. Genet. 52: 1-7, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8434579/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8434579</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8434579" 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="9" class="mim-anchor"></a>
<a id="Hermansky1959" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hermansky, F., Pudlak, P.
<strong>Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies.</strong>
Blood 14: 162-169, 1959.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13618373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13618373</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13618373" 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="10" class="mim-anchor"></a>
<a id="Hermansky1963" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hermansky, F.
<strong>Personal Communication.</strong>
Prague, Czechoslovakia 1963.
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Iwata2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Iwata, F., Reed, G. F., Caruso, R. C., Kuehl, E. M., Gahl, W. A., Kaiser-Kupfer, M. I.
<strong>Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism.</strong>
Ophthalmology 107: 783-789, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10768343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10768343</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10768343" 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(99)00150-5" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="King1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
King, R. A.
<strong>Personal Communication.</strong>
Minneapolis, Minn. 6/15/1987.
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="Kinnear1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kinnear, P. E., Tuddenham, E. G. D.
<strong>Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome.</strong>
Brit. J. Ophthal. 69: 904-908, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4084482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4084482</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4084482" 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/bjo.69.12.904" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="Lattion1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lattion, F., Schneider, P., Da Prada, M., Lorez, H. P., Richards, J. G., Picotti, G. B., Frenck, E.
<strong>Syndrome d'Hermansky-Pudlak dans un village valaisan.</strong>
Helv. Paediat. Acta 38: 495-512, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6668200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6668200</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6668200" 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="15" class="mim-anchor"></a>
<a id="Logan1971" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Logan, L. J., Rapaport, S. I., Maher, I.
<strong>Albinism and abnormal platelet function.</strong>
New Eng. J. Med. 284: 1340-1345, 1971.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5576453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5576453</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5576453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM197106172842402" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Mahadeo1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mahadeo, R., Markowitz, J., Fisher, S., Daum, F.
<strong>Hermansky-Pudlak syndrome with granulomatous colitis in children.</strong>
J. Pediat. 118: 904-906, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1674961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1674961</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1674961" 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/s0022-3476(05)82204-8" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="Nishibori1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Nishibori, M., Cham, B., McNicol, A., Shalev, A., Jain, N., Gerrard, J. M.
<strong>The protein CD63 is in platelet dense granules, is deficient in a patient with Hermansky-Pudlak syndrome, and appears identical to granulophysin.</strong>
J. Clin. Invest. 91: 1775-1782, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7682577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7682577</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7682577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/JCI116388" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="Oh1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Oh, J., Bailin, T., Fukai, K., Feng, G. H., Ho, L., Mao, J., Frenk, E., Tamura, N., Spritz, R. A.
<strong>Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.</strong>
Nature Genet. 14: 300-306, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896559</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8896559" 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/ng1196-300" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="19" class="mim-anchor"></a>
<a id="Oh1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Oh, J., Ho, L., Ala-Mello, S., Amato, D., Armstrong, L., Bellucci, S., Carakushansky, G., Ellis, J. P., Fong, C.-T., Green, J. S., Heon, E., Legius, E., Levin, A. V., Nieuwenhuis, H. K., Pinckers, A., Tamura, N., Whiteford, M. L., Yamasaki, H., Spritz, R. A.
<strong>Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.</strong>
Am. J. Hum. Genet. 62: 593-598, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9497254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/301757" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Rendu1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rendu, F., Breton-Gorius, J., Trugman, G., Castro-Melaspina, H., Andrieu, J.-M., Bereziat, G., Libret, M., Caen, J. P.
<strong>Studies on a new variant of the Hermansky-Pudlak syndrome: quantitative, ultrastructural, and functional abnormalities of the platelet-dense bodies associated with a phospholipase A defect.</strong>
Am. J. Hemat. 4: 387-399, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/717398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">717398</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=717398" 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.2830040410" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="Sandberg-Gertzen1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sandberg-Gertzen, H., Eid, R., Jarnerot G.
<strong>Hermansky-Pudlak syndrome with colitis and pulmonary fibrosis.</strong>
Scand. J. Gastroent. 34: 1055-1056, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10563678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10563678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10563678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1080/003655299750025183" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Schallreuter1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schallreuter, K. U., Frenk, E., Wolfe, L. S., Witkop, C. J., Wood, J. M.
<strong>Hermansky-Pudlak syndrome in a Swiss population.</strong>
Dermatology 187: 248-256, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8274781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8274781</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8274781" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1159/000247258" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="23" class="mim-anchor"></a>
<a id="Schinella1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schinella, R. A., Greco, M. A., Cobert, B. L., Denmark, L. W., Cox, R. P.
<strong>Hermansky-Pudlak syndrome with granulomatous colitis.</strong>
Ann. Intern. Med. 92: 20-23, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7350869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7350869</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7350869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.7326/0003-4819-92-1-20" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Spritz1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Spritz, R. A.
<strong>Multi-organellar disorders of pigmentation: tied up in traffic.</strong>
Clin. Genet. 55: 309-317, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10422800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10422800</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10422800" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1034/j.1399-0004.1999.550503.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="25" class="mim-anchor"></a>
<a id="Takahashi1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Takahashi, A., Yokoyama, T.
<strong>Hermansky-Pudlak syndrome with special reference to lysosomal dysfunction: a case report and review of the literature.</strong>
Virchows Arch. A Path. Anat. Histol. 402: 247-258, 1984.
</p>
</div>
</li>
<li>
<a id="26" class="mim-anchor"></a>
<a id="Toro1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Toro, J., Turner, M., Gahl, W. A.
<strong>Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene.</strong>
Arch. Derm. 135: 774-780, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10411151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10411151</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10411151" 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.135.7.774" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="27" class="mim-anchor"></a>
<a id="Verloop1964" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Verloop, M. C., Von Wieringen, A., Vuylsteke, J., Hart, H. C., Huizinga, J.
<strong>Albinismus, hemorrhagische Diathese und anormale Pigmentzellen im Knockenmark.</strong>
Med. Klin. 59: 408-412, 1964.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14178495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14178495</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14178495" 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="Weiss1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Weiss, H. J., Witte, L. D., Kaplan, K. L., Lages, B. A., Chernoff, A., Nossel, H. L., Goodman, D. S., Baumgartner, H. R.
<strong>Heterogeneity in storage pool deficiency: studies in granule-bound substances in 18 patients including variants deficient in alpha-granules, platelet factor 4, beta-thromboglobin, and platelet-derived growth factor.</strong>
Blood 54: 1296-1319, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/508939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">508939</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=508939" 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="29" class="mim-anchor"></a>
<a id="White1971" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
White, J. G., Edson, J. R., Desnick, S. J., Witkop, C. J., Jr.
<strong>Studies of platelets in a variant of the Hermansky-Pudlak syndrome.</strong>
Am. J. Path. 63: 319-332, 1971.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5090642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5090642</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5090642" 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="30" class="mim-anchor"></a>
<a id="Wijermans1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wijermans, P. W., van Dorp, D. B.
<strong>Hermansky-Pudlak syndrome: correction of bleeding time by 1-desamino-8D-arginine vasopressin.</strong>
Am. J. Hemat. 30: 154-157, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2916560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2916560</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2916560" 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.2830300307" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="31" class="mim-anchor"></a>
<a id="Wildenberg1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wildenberg, S. C., Oetting, W. S., Almodovar, C., Krumwiede, M., White, J. G., King, R. A.
<strong>A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2.</strong>
Am. J. Hum. Genet. 57: 755-765, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573033</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7573033" 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="32" class="mim-anchor"></a>
<a id="Witkop1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Witkop, C. J., Jr.
<strong>Personal Communication.</strong>
Minneapolis, Minn. 2/1986.
</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">
Marla J. F. O'Neill - updated : 8/12/2011
</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 : 12/28/2010<br>Victor A. McKusick - updated : 1/3/2006<br>Patricia A. Hartz - updated : 12/9/2005<br>Marla J. F. O'Neill - updated : 6/30/2004<br>Victor A. McKusick - updated : 8/21/2003<br>Victor A. McKusick - updated : 1/28/2003<br>Victor A. McKusick - updated : 2/11/2002<br>Ada Hamosh - updated : 7/13/2001<br>Victor A. McKusick - updated : 9/6/2000<br>Jane Kelly - updated : 6/22/2000<br>Victor A. McKusick - updated : 1/14/2000<br>Victor A. McKusick - updated : 9/15/1999<br>Victor A. McKusick - updated : 3/8/1999<br>Victor A. McKusick - updated : 10/14/1998<br>Victor A. McKusick - updated : 7/13/1998<br>Victor A. McKusick - updated : 5/11/1998<br>Victor A. McKusick - updated : 5/8/1998<br>Victor A. McKusick - updated : 11/26/1997<br>Victor A. McKusick - updated : 6/23/1997
</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 : 6/2/1986
</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 : 12/15/2022
</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">
alopez : 11/17/2022<br>alopez : 01/29/2021<br>carol : 07/27/2016<br>ckniffin : 07/25/2016<br>carol : 09/16/2015<br>carol : 7/22/2015<br>carol : 11/26/2014<br>wwang : 8/17/2011<br>terry : 8/12/2011<br>alopez : 7/1/2011<br>wwang : 1/7/2011<br>ckniffin : 12/28/2010<br>terry : 10/14/2010<br>alopez : 1/11/2006<br>terry : 1/3/2006<br>mgross : 12/9/2005<br>carol : 7/1/2004<br>terry : 6/30/2004<br>alopez : 3/18/2004<br>alopez : 3/18/2004<br>mgross : 11/12/2003<br>mgross : 11/7/2003<br>mgross : 11/7/2003<br>mgross : 11/6/2003<br>mgross : 11/6/2003<br>mgross : 11/6/2003<br>mgross : 9/10/2003<br>alopez : 9/2/2003<br>alopez : 8/22/2003<br>terry : 8/21/2003<br>carol : 3/13/2003<br>alopez : 1/31/2003<br>mgross : 1/28/2003<br>mgross : 10/9/2002<br>cwells : 9/6/2002<br>cwells : 9/3/2002<br>alopez : 7/24/2002<br>alopez : 2/11/2002<br>terry : 2/11/2002<br>carol : 1/16/2002<br>alopez : 8/2/2001<br>alopez : 7/16/2001<br>terry : 7/13/2001<br>alopez : 9/6/2000<br>alopez : 9/6/2000<br>alopez : 6/23/2000<br>alopez : 6/22/2000<br>alopez : 6/22/2000<br>mcapotos : 2/1/2000<br>mcapotos : 1/31/2000<br>mcapotos : 1/31/2000<br>terry : 1/14/2000<br>mgross : 12/15/1999<br>mgross : 11/23/1999<br>mgross : 11/23/1999<br>mgross : 9/23/1999<br>terry : 9/15/1999<br>terry : 6/9/1999<br>terry : 3/25/1999<br>terry : 3/8/1999<br>carol : 1/5/1999<br>carol : 10/20/1998<br>terry : 10/14/1998<br>dkim : 7/23/1998<br>carol : 7/16/1998<br>carol : 7/15/1998<br>terry : 7/13/1998<br>terry : 6/4/1998<br>alopez : 5/15/1998<br>alopez : 5/13/1998<br>carol : 5/11/1998<br>terry : 5/8/1998<br>jenny : 12/2/1997<br>terry : 11/26/1997<br>terry : 11/26/1997<br>terry : 7/9/1997<br>terry : 6/23/1997<br>terry : 6/18/1997<br>alopez : 6/10/1997<br>terry : 10/31/1996<br>terry : 10/29/1996<br>mimadm : 11/12/1995<br>mark : 10/19/1995<br>terry : 7/18/1994<br>warfield : 4/14/1994<br>carol : 5/12/1993<br>carol : 3/2/1993
</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> 203300
</span>
</h3>
</div>
<div>
<h3>
<span class="mim-font">
HERMANSKY-PUDLAK SYNDROME 1; HPS1
</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">
ALBINISM WITH HEMORRHAGIC DIATHESIS AND PIGMENTED RETICULOENDOTHELIAL CELLS<br />
DELTA STORAGE POOL DISEASE
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<p>
<span class="mim-text-font">
<strong>ORPHA:</strong> 231500, 79430; &nbsp;
<strong>DO:</strong> 0060539; &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">
10q24.2
</span>
</td>
<td>
<span class="mim-font">
Hermansky-Pudlak syndrome 1
</span>
</td>
<td>
<span class="mim-font">
203300
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
HPS1
</span>
</td>
<td>
<span class="mim-font">
604982
</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 Hermansky-Pudlak syndrome-1 (HPS1) is caused by homozygous or compound heterozygous mutation in the HPS1 gene (604982) on chromosome 10q24.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). </p><p><strong><em>Genetic Heterogeneity of Hermansky-Pudlak Syndrome</em></strong></p><p>
HPS2 (608233) is caused by mutation in the AP3B1 gene (603401) on chromosome 5q14. HPS3 (614072) is caused by mutation in the HPS3 gene (606118) on chromosome 3q24. HPS4 (614073) is caused by mutation in the HPS4 gene (606682) on chromosome 22q12. HPS5 (614074) is caused by mutation in the HPS5 gene (607521) on chromosome 11p14. HPS6 (614075) is caused by mutation in the HPS6 gene (607522) on chromosome 10q24. HPS7 (614076) is caused by mutation in the DTNBP1 gene (607145) on chromosome 6p22. HPS8 (614077) is caused by mutation in the BLOC1S3 gene (609762) on chromosome 19q13. HPS9 (614171) is caused by mutation in the PLDN gene (604310) on chromosome 15q21. HPS10 (617050) is caused by mutation in the AP3D1 gene (607246) on chromosome 19p13. HPS11 (619172) is caused by mutation in the BLOC1S5 gene (607289) on chromosome 6p24.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Hermansky and Pudlak (1959) described 2 unrelated patients with albinism, a lifelong bleeding tendency, and peculiar pigmented reticular cells in the bone marrow as well as in lymph node and liver biopsies. One patient was male and the other female; both were 33 years old. After the woman's death, she was found to have large amounts of the pigment in reticuloendothelial cells everywhere and in the walls of small blood vessels (Hermansky, 1963). Two families, each with 2 sibs affected with this syndrome, had come to the attention of Hermansky (1963). This syndrome is clearly different from the Chediak-Higashi syndrome (214500) because no qualitative changes of leukocytes are found in Hermansky syndrome and no pigmented macrophages are found in Chediak-Higashi syndrome. Report of a family by Verloop et al. (1964) supports this conclusion. </p><p>Logan et al. (1971) described a patient with albinism and bleeding diathesis in whom a defect in platelet ADP release was demonstrated. Prolonged bleeding time and defective platelet aggregation were found. Two other patients with albinism and a defect in ADP release had been reported, as well as 12 others with prolonged bleeding. In 6 of 7 in whom the bone marrow was studied, histiocytes were found to contain abnormal granules. Weiss et al. (1979) studied the platelet defect, which they called delta storage pool disease, in 7 patients; 6, including 3 sisters, were of Puerto Rican ancestry. Four other unrelated patients had the same platelet defect but did not have albinism. Depinho and Kaplan (1985) reported 3 affected sibs from a consanguineous Puerto Rican kindred. The proband, a 31-year-old woman with 2 children, had fatal restrictive lung disease, a complication pointed out by others (Davies and Tuddenham, 1976; Garay et al., 1979). Indeed, the first patient (Hermansky and Pudlak, 1959) was a 33-year-old farmer who developed chronic interstitial pulmonary fibrosis. Davies and Tuddenham (1976) described 4 sibs with HPS-associated pulmonary fibrosis. The onset of pulmonary fibrosis is most often in the third or fourth decade. </p><p>Inflammatory bowel disease, with onset of symptoms between 12 and 30 years of age, in HPS patients has been reported by several authors (e.g., Schinella et al., 1980). Most of the patients with HPS-related bowel disease have been Puerto Rican. Response to medical therapy was said to be poor. Mahadeo et al. (1991) reported 2 children, aged 7 years and 3 years, with granulomatous colitis in association with HPS. One of the children was Puerto Rican. Epistaxis is the most frequent hemorrhagic manifestation. All 3 sibs studied by Depinho and Kaplan (1985) had recurrent infections and were anergic. </p><p>Kinnear and Tuddenham (1985) reported 4 cases of Hermansky-Pudlak syndrome. Cutaneous malignant melanoma developed in 1. The ocular features were similar to those of tyrosinase-positive oculocutaneous albinism (203200). The triad of the syndrome is albinism, platelets lacking dense bodies, and storage of ceroid-like material in tissues. The manifestations of the storage disease include ulcerative colitis, restrictive lung disease, kidney failure, and cardiomyopathy. The autofluorescent material stored in HPS is histochemically similar to that stored in neuronal ceroid lipofuscinosis (204200). </p><p>Sandberg-Gertzen et al. (1999) described HPS in a mentally retarded patient with albinism and mild bleeding diathesis; the course was complicated by granulomatous colitis refractory to medical treatment and progressive, fatal pulmonary fibrosis. </p><p>Hearing (1993) reviewed the complexities of melanogenesis, including the parallels between mouse and the human. The complex nature of the process was anticipated since, in the mouse, more than 150 distinct mutations affect visible pigmentation, and those occur at more than 50 genetic loci. </p><p>The Hermansky-Pudlak syndrome observed in the isolated Swiss Alps village (Lattion et al., 1983 and Schallreuter et al., 1993) usually shows a relatively mild clinical course with normal life expectancy, and the patients lack manifestations of ceroid storage. The 2 most common complications associated with ceroid deposition in the usual form of HPS are pulmonary fibrosis and granulomatous colitis; the major cause of death in HPS after 1 year of age is pulmonary fibrosis. There is striking variability in pigmentation, which can vary from an almost total absence of pigment to an amount that is nearly normal. Obligate heterozygotes are normally pigmented. The third feature of HPS is the absence of dense bodies in the platelets. </p><p>Using immunofluorescence with antibodies against CD63 (155740), Nishibori et al. (1993) demonstrated deficiency of CD63 (155740) in HPS. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Management</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Vitamin E was thought to be of some benefit for the hemorrhagic problem in patients with HPS (Depinho and Kaplan, 1985). Wijermans and van Dorp (1989) reported that 1-desamino-8D-arginine vasopressin (dDAVP) is useful in the treatment of some cases of HPS. The authors suggested that it be combined with drugs that inhibit fibrinolysis because dDAVP also increases plasminogen activator activity. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>HPS may be the most frequent single-gene disorder in Puerto Rico and is frequent in an isolated mountain village high in the Swiss Alps (Schallreuter et al., 1993). Witkop (1986) estimated a frequency of about 1 in 2,000 among Puerto Ricans. Wildenberg et al. (1995) stated that in Puerto Rico, HPS has a frequency of about 1 in 1,800, giving a carrier frequency estimated to be 1 in 21. The origin of HPS in Puerto Rico has been traced to a region of southern Spain, and a connection to cases in Holland was considered likely (King, 1987). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Heterogeneity</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Evidence of locus heterogeneity for HPS was provided by findings of homozygosity analysis of 4 inbred non-Puerto Rican HPS patients in whom Oh et al. (1998) detected no mutations in the HPS1 gene. If these patients were homozygous (by descent) for occult HPS1 mutations, they should also have been homozygous for the polymorphic markers that Oh et al. (1998) had found immediately flanking the gene. However, 3 of these patients were heterozygous for these markers, thus apparently excluding the HPS1 locus in these cases. Furthermore, genetic linkage analysis of the extended family of 1 of these 4 patients, as well as in another non-inbred family, showed no evidence for linkage. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Fukai et al. (1995) found that HPS maps to chromosome 10. They used the linkage disequilibrium mapping approach to localize the HPS1 gene (604982) in 2 groups in whom the disorder is particularly frequent: a group in Puerto Rico and a group in an isolated village in the Swiss Alps. They localized the HPS1 gene in both groups to a 0.6-cM interval in chromosome segment 10q23.1-q23.2. Wildenberg et al. (1995) likewise mapped the HPS1 gene to 10q. They collected blood samples from a relatively homogeneous population in Puerto Rico. Analysis of pooled DNA samples allowed them to screen the genome rapidly for candidate loci, and identify linkage with a marker on 10q. The result was verified with additional markers, and a maximum lod score of 5.07 at theta = 0.001 was calculated for marker D10S198. Haplotype analysis placed the HPS1 gene in a region of approximately 14 cM that contains the markers D10S198 and D10S1239. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of HPS1 in the families reported by Oh et al. (1996) was consistent with autosomal recessive inheritance. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Oh et al. (1996) identified the HPS1 gene by positional cloning and found homozygous frameshifts in this gene in Puerto Rican, Swiss, Irish, and Japanese HPS patients. The HPS1 polypeptide is a novel transmembrane protein that is likely to be a component of multiple cytoplasmic organelles and is apparently crucial for their normal development and function. The different clinical phenotypes associated with different HPS1 frameshifts suggested that differentially truncated HPS1 polypeptides may have somewhat different consequences for subcellular function. </p><p>Oh et al. (1998) performed mutation analysis on 44 unrelated Puerto Rican and 24 unrelated non-Puerto Rican HPS patients. A 16-bp frameshift duplication (604982.0001), the result of an apparent founder effect, was nearly ubiquitous among Puerto Rican patients. A frameshift at codon 322 (604982.0002) may be the most frequent HPS1 mutation in Europeans. Oh et al. (1998) also described 6 novel HPS1 mutations: a 5-prime splice-junction mutation of IVS5, 3 frameshifts, a nonsense mutation, and a 1-codon in-frame deletion. These mutations defined an apparent frameshift hotspot at codons 321-322. Overall, however, they detected mutations in the HPS1 gene in only about half of non-Puerto Rican patients, and presented evidence suggesting locus heterogeneity for HPS. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>All identified patients with HPS in northwest Puerto Rico were found to be homozygous for the 16-bp duplication in exon 15 of the HPS1 gene (604982.0001). Gahl et al. (1998) compared the clinical and laboratory characteristics of these patients with those of patients without the 16-bp duplication. They studied 49 patients: 27 Puerto Ricans and 22 patients from mainland United States who were not of Puerto Rican descent. The diagnosis was based on the presence of albinism and the absence of platelet dense bodies. Homozygosity for the 16-bp duplication was found in 25 of the 27 Puerto Rican patients, whereas none of the non-Puerto Rican patients carried this mutation. Like the patients without the duplication, the patients with the 16-bp duplication had a broad variation in pigmentation. Nine of 16 adults with the duplication, but none of the 10 without it, had a diffusing capacity for carbon monoxide that was less than 80% of the predicted value. High-resolution computed tomography in all 12 patients with the 16-bp duplication revealed minimal fibrosis in 8, moderate fibrosis in 1, severe fibrosis in 1, and no fibrosis in 2. Computed tomography in 8 patients without the duplication revealed minimal fibrosis in 3 and no fibrosis in the rest. Inflammatory bowel disease developed in 8 patients (4 in each group) between 3 and 25 years of age. Thus, the 16-bp duplication in exon 15 of the HPS1 gene, which has been found only in Puerto Rican patients, is associated with a broad range of pigmentation and an increased risk of restrictive lung disease in adults. </p><p>Iwata et al. (2000) studied 2 groups of patients with Hermansky-Pudlak syndrome: those with the 16-bp duplication in the HPS1 gene on chromosome 10q23 (604982.0001), and those without the duplication. The visual acuity in the better eye was not statistically significantly different between the 2 groups. Although the authors attempted to compare visual acuity and iris transillumination versus visual acuity and macular translucency, they concluded that the variability in visual acuity was too great. The associations studied were not large enough for useful prediction of vision based on the amount of pigmentation. </p><p>Of 65 patients, aged 3 to 54 years, in whom the diagnosis of HPS had been made on the basis of absence of platelet dense bodies in individuals with albinism combined with a bleeding diathesis, Toro et al. (1999) found the 16-bp duplication in HPS1 by PCR amplification in 40 who were homozygous, whereas the other 25 lacked the duplication. All patients with the duplication were from northwest Puerto Rico; all patients without the duplication were non-Puerto Rican, except 4 from central Puerto Rico. Both groups displayed skin color ranging from white to light brown, hair color ranging from white to brown, and eye color ranging from blue to brown. New findings in both groups of patients with HPS were melanocytic nevi with dysplastic features, acanthosis nigricans-like lesions in the axilla and neck, and trichomegaly. In 80% of patients with the duplication, features of solar damage were found, including multiple freckles, stellate lentigines, actinic keratoses, and, occasionally, basal cell or squamous cell carcinomas. Only 8% of patients lacking the 16-bp duplication displayed these findings. As a group, the patients with the duplication lived closer to the equator than those without the duplication, but this was not thought to explain the difference entirely. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In a review of the trafficking of organellar-specific proteins to melanosomes, lysosomes, and cytoplasmic granules, Spritz (1999) proposed that the Hermansky-Pudlak syndrome due to mutations in the AP3B1 gene be named HPS2 and the original syndrome be called HPS1. Hermansky-Pudlak syndrome due to mutation in a gene on 3q24 (606118) is known as HPS3 (Anikster et al., 2001). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Two genetically distinct mouse loci, 'pale ear' (ep) and 'ruby-eye' (ru), both with mutant phenotypes similar to human HPS, map close together in the homologous region of murine chromosome 19, which suggested that one of these loci might be homologous to human HPS1. Feng et al. (1997) characterized the mouse Hps1 cDNA and genomic locus, and identified pathologic Hps1 gene mutations in ep but not in ru mice, establishing mouse 'pale ear' as an animal model for human HPS. (The human homolog of mouse ru is HPS6, 607522). The phenotype of homozygous ep mutant mice encompasses those of both HPS and Chediak-Higashi syndrome, suggesting that these disorders may be closely related. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Rendu et al. (1978); Takahashi and Yokoyama (1984); White et al.
(1971)
</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">
Anikster, Y., Huizing, M., White, J., Shevchenko, Y. O., Fitzpatrick, D. L., Touchman, J. W., Compton, J. G., Bale, S. J., Swank, R. T., Gahl, W. A., Toro, J. R.
<strong>Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.</strong>
Nature Genet. 28: 376-380, 2001.
[PubMed: 11455388]
[Full Text: https://doi.org/10.1038/ng576]
</p>
</li>
<li>
<p class="mim-text-font">
Davies, B. H., Tuddenham, E. G. D.
<strong>Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect: a new syndrome.</strong>
Quart. J. Med. 45: 219-232, 1976.
[PubMed: 940919]
</p>
</li>
<li>
<p class="mim-text-font">
Depinho, R. A., Kaplan, K. L.
<strong>The Hermansky-Pudlak syndrome: report of three cases and review of pathophysiology and management considerations.</strong>
Medicine 64: 192-202, 1985.
[PubMed: 3921802]
</p>
</li>
<li>
<p class="mim-text-font">
Feng, G. H., Bailin, T., Oh, J., Spritz, R. A.
<strong>Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare &#x27;AT-AC&#x27; intron.</strong>
Hum. Molec. Genet. 6: 793-797, 1997.
[PubMed: 9158155]
[Full Text: https://doi.org/10.1093/hmg/6.5.793]
</p>
</li>
<li>
<p class="mim-text-font">
Fukai, K., Oh, J., Frenk, E., Almodovar, C., Spritz, R. A.
<strong>Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3.</strong>
Hum. Molec. Genet. 4: 1665-1669, 1995.
[PubMed: 8541858]
[Full Text: https://doi.org/10.1093/hmg/4.9.1665]
</p>
</li>
<li>
<p class="mim-text-font">
Gahl, W. A., Brantly, M., Kaiser-Kupfer, M. I., Iwata, F., Hazelwood, S., Shotelersuk, V., Duffy, L. F., Kuehl, E. M., Troendle, J., Bernardini, I.
<strong>Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome).</strong>
New Eng. J. Med. 338: 1258-1264, 1998.
[PubMed: 9562579]
[Full Text: https://doi.org/10.1056/NEJM199804303381803]
</p>
</li>
<li>
<p class="mim-text-font">
Garay, S. M., Gardella, J. E., Fazzini, E. P., Goldring, R. M.
<strong>Hermansky-Pudlak syndrome: pulmonary manifestations of a ceroid storage disorder.</strong>
Am. J. Med. 66: 737-747, 1979.
[PubMed: 443250]
[Full Text: https://doi.org/10.1016/0002-9343(79)91111-2]
</p>
</li>
<li>
<p class="mim-text-font">
Hearing, V. J.
<strong>Unraveling the melanocyte. (Editorial)</strong>
Am. J. Hum. Genet. 52: 1-7, 1993.
[PubMed: 8434579]
</p>
</li>
<li>
<p class="mim-text-font">
Hermansky, F., Pudlak, P.
<strong>Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies.</strong>
Blood 14: 162-169, 1959.
[PubMed: 13618373]
</p>
</li>
<li>
<p class="mim-text-font">
Hermansky, F.
<strong>Personal Communication.</strong>
Prague, Czechoslovakia 1963.
</p>
</li>
<li>
<p class="mim-text-font">
Iwata, F., Reed, G. F., Caruso, R. C., Kuehl, E. M., Gahl, W. A., Kaiser-Kupfer, M. I.
<strong>Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism.</strong>
Ophthalmology 107: 783-789, 2000.
[PubMed: 10768343]
[Full Text: https://doi.org/10.1016/s0161-6420(99)00150-5]
</p>
</li>
<li>
<p class="mim-text-font">
King, R. A.
<strong>Personal Communication.</strong>
Minneapolis, Minn. 6/15/1987.
</p>
</li>
<li>
<p class="mim-text-font">
Kinnear, P. E., Tuddenham, E. G. D.
<strong>Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome.</strong>
Brit. J. Ophthal. 69: 904-908, 1985.
[PubMed: 4084482]
[Full Text: https://doi.org/10.1136/bjo.69.12.904]
</p>
</li>
<li>
<p class="mim-text-font">
Lattion, F., Schneider, P., Da Prada, M., Lorez, H. P., Richards, J. G., Picotti, G. B., Frenck, E.
<strong>Syndrome d&#x27;Hermansky-Pudlak dans un village valaisan.</strong>
Helv. Paediat. Acta 38: 495-512, 1983.
[PubMed: 6668200]
</p>
</li>
<li>
<p class="mim-text-font">
Logan, L. J., Rapaport, S. I., Maher, I.
<strong>Albinism and abnormal platelet function.</strong>
New Eng. J. Med. 284: 1340-1345, 1971.
[PubMed: 5576453]
[Full Text: https://doi.org/10.1056/NEJM197106172842402]
</p>
</li>
<li>
<p class="mim-text-font">
Mahadeo, R., Markowitz, J., Fisher, S., Daum, F.
<strong>Hermansky-Pudlak syndrome with granulomatous colitis in children.</strong>
J. Pediat. 118: 904-906, 1991.
[PubMed: 1674961]
[Full Text: https://doi.org/10.1016/s0022-3476(05)82204-8]
</p>
</li>
<li>
<p class="mim-text-font">
Nishibori, M., Cham, B., McNicol, A., Shalev, A., Jain, N., Gerrard, J. M.
<strong>The protein CD63 is in platelet dense granules, is deficient in a patient with Hermansky-Pudlak syndrome, and appears identical to granulophysin.</strong>
J. Clin. Invest. 91: 1775-1782, 1993.
[PubMed: 7682577]
[Full Text: https://doi.org/10.1172/JCI116388]
</p>
</li>
<li>
<p class="mim-text-font">
Oh, J., Bailin, T., Fukai, K., Feng, G. H., Ho, L., Mao, J., Frenk, E., Tamura, N., Spritz, R. A.
<strong>Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.</strong>
Nature Genet. 14: 300-306, 1996.
[PubMed: 8896559]
[Full Text: https://doi.org/10.1038/ng1196-300]
</p>
</li>
<li>
<p class="mim-text-font">
Oh, J., Ho, L., Ala-Mello, S., Amato, D., Armstrong, L., Bellucci, S., Carakushansky, G., Ellis, J. P., Fong, C.-T., Green, J. S., Heon, E., Legius, E., Levin, A. V., Nieuwenhuis, H. K., Pinckers, A., Tamura, N., Whiteford, M. L., Yamasaki, H., Spritz, R. A.
<strong>Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.</strong>
Am. J. Hum. Genet. 62: 593-598, 1998.
[PubMed: 9497254]
[Full Text: https://doi.org/10.1086/301757]
</p>
</li>
<li>
<p class="mim-text-font">
Rendu, F., Breton-Gorius, J., Trugman, G., Castro-Melaspina, H., Andrieu, J.-M., Bereziat, G., Libret, M., Caen, J. P.
<strong>Studies on a new variant of the Hermansky-Pudlak syndrome: quantitative, ultrastructural, and functional abnormalities of the platelet-dense bodies associated with a phospholipase A defect.</strong>
Am. J. Hemat. 4: 387-399, 1978.
[PubMed: 717398]
[Full Text: https://doi.org/10.1002/ajh.2830040410]
</p>
</li>
<li>
<p class="mim-text-font">
Sandberg-Gertzen, H., Eid, R., Jarnerot G.
<strong>Hermansky-Pudlak syndrome with colitis and pulmonary fibrosis.</strong>
Scand. J. Gastroent. 34: 1055-1056, 1999.
[PubMed: 10563678]
[Full Text: https://doi.org/10.1080/003655299750025183]
</p>
</li>
<li>
<p class="mim-text-font">
Schallreuter, K. U., Frenk, E., Wolfe, L. S., Witkop, C. J., Wood, J. M.
<strong>Hermansky-Pudlak syndrome in a Swiss population.</strong>
Dermatology 187: 248-256, 1993.
[PubMed: 8274781]
[Full Text: https://doi.org/10.1159/000247258]
</p>
</li>
<li>
<p class="mim-text-font">
Schinella, R. A., Greco, M. A., Cobert, B. L., Denmark, L. W., Cox, R. P.
<strong>Hermansky-Pudlak syndrome with granulomatous colitis.</strong>
Ann. Intern. Med. 92: 20-23, 1980.
[PubMed: 7350869]
[Full Text: https://doi.org/10.7326/0003-4819-92-1-20]
</p>
</li>
<li>
<p class="mim-text-font">
Spritz, R. A.
<strong>Multi-organellar disorders of pigmentation: tied up in traffic.</strong>
Clin. Genet. 55: 309-317, 1999.
[PubMed: 10422800]
[Full Text: https://doi.org/10.1034/j.1399-0004.1999.550503.x]
</p>
</li>
<li>
<p class="mim-text-font">
Takahashi, A., Yokoyama, T.
<strong>Hermansky-Pudlak syndrome with special reference to lysosomal dysfunction: a case report and review of the literature.</strong>
Virchows Arch. A Path. Anat. Histol. 402: 247-258, 1984.
</p>
</li>
<li>
<p class="mim-text-font">
Toro, J., Turner, M., Gahl, W. A.
<strong>Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene.</strong>
Arch. Derm. 135: 774-780, 1999.
[PubMed: 10411151]
[Full Text: https://doi.org/10.1001/archderm.135.7.774]
</p>
</li>
<li>
<p class="mim-text-font">
Verloop, M. C., Von Wieringen, A., Vuylsteke, J., Hart, H. C., Huizinga, J.
<strong>Albinismus, hemorrhagische Diathese und anormale Pigmentzellen im Knockenmark.</strong>
Med. Klin. 59: 408-412, 1964.
[PubMed: 14178495]
</p>
</li>
<li>
<p class="mim-text-font">
Weiss, H. J., Witte, L. D., Kaplan, K. L., Lages, B. A., Chernoff, A., Nossel, H. L., Goodman, D. S., Baumgartner, H. R.
<strong>Heterogeneity in storage pool deficiency: studies in granule-bound substances in 18 patients including variants deficient in alpha-granules, platelet factor 4, beta-thromboglobin, and platelet-derived growth factor.</strong>
Blood 54: 1296-1319, 1979.
[PubMed: 508939]
</p>
</li>
<li>
<p class="mim-text-font">
White, J. G., Edson, J. R., Desnick, S. J., Witkop, C. J., Jr.
<strong>Studies of platelets in a variant of the Hermansky-Pudlak syndrome.</strong>
Am. J. Path. 63: 319-332, 1971.
[PubMed: 5090642]
</p>
</li>
<li>
<p class="mim-text-font">
Wijermans, P. W., van Dorp, D. B.
<strong>Hermansky-Pudlak syndrome: correction of bleeding time by 1-desamino-8D-arginine vasopressin.</strong>
Am. J. Hemat. 30: 154-157, 1989.
[PubMed: 2916560]
[Full Text: https://doi.org/10.1002/ajh.2830300307]
</p>
</li>
<li>
<p class="mim-text-font">
Wildenberg, S. C., Oetting, W. S., Almodovar, C., Krumwiede, M., White, J. G., King, R. A.
<strong>A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2.</strong>
Am. J. Hum. Genet. 57: 755-765, 1995.
[PubMed: 7573033]
</p>
</li>
<li>
<p class="mim-text-font">
Witkop, C. J., Jr.
<strong>Personal Communication.</strong>
Minneapolis, Minn. 2/1986.
</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">
Marla J. F. O&#x27;Neill - updated : 8/12/2011<br>Cassandra L. Kniffin - updated : 12/28/2010<br>Victor A. McKusick - updated : 1/3/2006<br>Patricia A. Hartz - updated : 12/9/2005<br>Marla J. F. O&#x27;Neill - updated : 6/30/2004<br>Victor A. McKusick - updated : 8/21/2003<br>Victor A. McKusick - updated : 1/28/2003<br>Victor A. McKusick - updated : 2/11/2002<br>Ada Hamosh - updated : 7/13/2001<br>Victor A. McKusick - updated : 9/6/2000<br>Jane Kelly - updated : 6/22/2000<br>Victor A. McKusick - updated : 1/14/2000<br>Victor A. McKusick - updated : 9/15/1999<br>Victor A. McKusick - updated : 3/8/1999<br>Victor A. McKusick - updated : 10/14/1998<br>Victor A. McKusick - updated : 7/13/1998<br>Victor A. McKusick - updated : 5/11/1998<br>Victor A. McKusick - updated : 5/8/1998<br>Victor A. McKusick - updated : 11/26/1997<br>Victor A. McKusick - updated : 6/23/1997
</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 : 6/2/1986
</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 : 12/15/2022<br>alopez : 11/17/2022<br>alopez : 01/29/2021<br>carol : 07/27/2016<br>ckniffin : 07/25/2016<br>carol : 09/16/2015<br>carol : 7/22/2015<br>carol : 11/26/2014<br>wwang : 8/17/2011<br>terry : 8/12/2011<br>alopez : 7/1/2011<br>wwang : 1/7/2011<br>ckniffin : 12/28/2010<br>terry : 10/14/2010<br>alopez : 1/11/2006<br>terry : 1/3/2006<br>mgross : 12/9/2005<br>carol : 7/1/2004<br>terry : 6/30/2004<br>alopez : 3/18/2004<br>alopez : 3/18/2004<br>mgross : 11/12/2003<br>mgross : 11/7/2003<br>mgross : 11/7/2003<br>mgross : 11/6/2003<br>mgross : 11/6/2003<br>mgross : 11/6/2003<br>mgross : 9/10/2003<br>alopez : 9/2/2003<br>alopez : 8/22/2003<br>terry : 8/21/2003<br>carol : 3/13/2003<br>alopez : 1/31/2003<br>mgross : 1/28/2003<br>mgross : 10/9/2002<br>cwells : 9/6/2002<br>cwells : 9/3/2002<br>alopez : 7/24/2002<br>alopez : 2/11/2002<br>terry : 2/11/2002<br>carol : 1/16/2002<br>alopez : 8/2/2001<br>alopez : 7/16/2001<br>terry : 7/13/2001<br>alopez : 9/6/2000<br>alopez : 9/6/2000<br>alopez : 6/23/2000<br>alopez : 6/22/2000<br>alopez : 6/22/2000<br>mcapotos : 2/1/2000<br>mcapotos : 1/31/2000<br>mcapotos : 1/31/2000<br>terry : 1/14/2000<br>mgross : 12/15/1999<br>mgross : 11/23/1999<br>mgross : 11/23/1999<br>mgross : 9/23/1999<br>terry : 9/15/1999<br>terry : 6/9/1999<br>terry : 3/25/1999<br>terry : 3/8/1999<br>carol : 1/5/1999<br>carol : 10/20/1998<br>terry : 10/14/1998<br>dkim : 7/23/1998<br>carol : 7/16/1998<br>carol : 7/15/1998<br>terry : 7/13/1998<br>terry : 6/4/1998<br>alopez : 5/15/1998<br>alopez : 5/13/1998<br>carol : 5/11/1998<br>terry : 5/8/1998<br>jenny : 12/2/1997<br>terry : 11/26/1997<br>terry : 11/26/1997<br>terry : 7/9/1997<br>terry : 6/23/1997<br>terry : 6/18/1997<br>alopez : 6/10/1997<br>terry : 10/31/1996<br>terry : 10/29/1996<br>mimadm : 11/12/1995<br>mark : 10/19/1995<br>terry : 7/18/1994<br>warfield : 4/14/1994<br>carol : 5/12/1993<br>carol : 3/2/1993
</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