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/253000

5772 lines
494 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
- #253000 - MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A
- 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=253000"><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">#253000</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/253000"><strong>Clinical Synopsis</strong></a>
</li>
<li role="presentation">
<a href="/phenotypicSeries/PS607014"> <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="#biochemicalFeatures">Biochemical Features</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#otherFeatures">Other Features</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#diagnosis">Diagnosis</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="#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="#populationGenetics">Population Genetics</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#history">History</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=MUCOPOLYSACCHARIDOSIS, TYPE IVA" 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=21369&Typ=Pat" title="Mucopolysaccharidosis type 4A" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Mucopolysaccharidosis type…&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=872&Typ=Pat" title="Mucopolysaccharidosis type 4" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Mucopolysaccharidosis type…&nbsp;</a></div>
</div>
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK148668/" 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/4876" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=253000[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=309297" title="Mucopolysaccharidosis type 4A" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Mucopolysaccharidosis type…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=582" title="Mucopolysaccharidosis type 4" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Mucopolysaccharidosis type…</a></div>
</div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/42ca0ad9-fd32-4c32-87e0-e6a24c827936/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:0111391" 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/253000" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:0111391" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:253000" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 130197005, 7259005<br />
<strong>ICD10CM:</strong> E76.210<br />
<strong>ORPHA:</strong> 309297, 582<br />
<strong>DO:</strong> 0111391<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>
253000
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A
</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">
MORQUIO SYNDROME A<br />
MPS IVA<br />
MORQUIO A DISEASE<br />
GALACTOSAMINE-6-SULFATASE DEFICIENCY<br />
GALNS DEFICIENCY
</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/16/739?start=-3&limit=10&highlight=739">
16q24.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Mucopolysaccharidosis IVA
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253000"> 253000 </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">
GALNS
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612222"> 612222 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/253000" 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/PS607014" 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/253000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/253000" 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> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Adult height 82 to 115 cm <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854812&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854812</a>]</span><br /> -
Short-trunked dwarfism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846435</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003521" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003521</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003521" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003521</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Coarse facial features, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232440</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span><br /> -
Prognathism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72855002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72855002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109504005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109504005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22810007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.213</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0399526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0399526</a>, <a href="https://bioportal.bioontology.org/search?q=C0033324&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033324</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2aaef6d7371d3478c5adcef40ea1e36f" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Prognathism-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=2aaef6d7371d3478c5adcef40ea1e36f&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103276001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103276001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15188001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15188001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011053</a>, <a href="https://bioportal.bioontology.org/search?q=C0018772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018772</a>, <a href="https://bioportal.bioontology.org/search?q=C1384666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1384666</a>, <a href="https://bioportal.bioontology.org/search?q=C3887873&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887873</a>, <a href="https://bioportal.bioontology.org/search?q=C2029884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2029884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Corneal opacities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64634000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64634000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413921009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413921009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/371.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">371.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</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">
- Broad mouth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40159009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40159009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q18.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q18.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024433</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000154" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000154</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000154" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000154</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Widely spaced teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844813&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844813</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000687" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000687</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000687" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000687</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5df0e44305e6ff6a9784b3b2408e902a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Teeth,Widely_Spaced-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=5df0e44305e6ff6a9784b3b2408e902a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Grayish enamel <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854783&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854783</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000683" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000683</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000683" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000683</a>]</span><br /> -
Frequent caries <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80967001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80967001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K02</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K02.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K02.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/521.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">521.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/521.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">521.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011334</a>, <a href="https://bioportal.bioontology.org/search?q=C1854784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000670</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000670</a>]</span><br />
</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">
- Valvular heart disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/368009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">368009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018824&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018824</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001654" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001654</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001654" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001654</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> Nasopharynx </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Frequent upper respiratory tract infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195708003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195708003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0581381&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0581381</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002788" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002788</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002788" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002788</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Lung </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Restrictive lung disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36485005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36485005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085581</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002091" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002091</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002091" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002091</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Flaring of rib cage <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854780&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854780</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000904" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000904</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000904" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000904</a>]</span><br /> -
Prominent sternum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846433</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000884" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000884</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000884" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000884</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> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Inguinal hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396232000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396232000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K40.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">550</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019294</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hepatomegaly, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865189&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865189</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Osteoporosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64859006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64859006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Z82.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Z82.62</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M81.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M81.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/733.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/V17.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">V17.81</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/733.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2911643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2911643</a>, <a href="https://bioportal.bioontology.org/search?q=C0029456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029456</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Platyspondyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844704&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844704</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000926</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000926</a>]</span><br /> -
Odontoid hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846439</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003311" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003311</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003311" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003311</a>]</span><br /> -
Cervical subluxation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846798</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003308" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003308</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003308" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003308</a>]</span><br /> -
Kyphosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71311003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71311003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414564002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414564002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413428007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413428007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.41</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/737.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">737.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265673</a>, <a href="https://bioportal.bioontology.org/search?q=C0022821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022821</a>, <a href="https://bioportal.bioontology.org/search?q=C2115817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2115817</a>, <a href="https://bioportal.bioontology.org/search?q=C0022822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span><br /> -
Ovoid vertebral bodies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855665&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855665</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003300</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003300</a>]</span><br /> -
Hyperlordosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61960001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61960001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249710008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249710008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1187290008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1187290008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024003&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024003</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003307</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003307</a>]</span><br /> -
Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pelvis </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Coxa valga <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33754009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33754009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16979000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16979000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299236004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299236004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/736.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158480</a>, <a href="https://bioportal.bioontology.org/search?q=C0152430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152430</a>, <a href="https://bioportal.bioontology.org/search?q=C0239137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239137</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span><br /> -
Constricted iliac wings <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854785&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854785</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003277" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003277</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003277" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003277</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Joint laxity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298203008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298203008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/788453008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">788453008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862377</a>, <a href="https://bioportal.bioontology.org/search?q=C0086437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086437</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span><br /> -
Genu valgum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299330008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299330008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52012001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52012001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.06" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.06</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158484&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158484</a>, <a href="https://bioportal.bioontology.org/search?q=C0576093&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576093</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span><br /> -
Ulnar deviation of the wrist <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43689004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43689004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231678&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231678</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003049</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003049</a>]</span><br /> -
Epiphyseal deformities of tubular bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854786&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854786</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003053" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003053</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003053" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003053</a>]</span><br /> -
Widened metaphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849039&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849039</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003016" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003016</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003016" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003016</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pointed proximal second through fifth metacarpals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854787&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854787</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001223" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001223</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001223" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001223</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Normal intelligence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26941006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26941006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423900&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423900</a>]</span><br /> -
Cervical myelopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/202664003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">202664003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149645&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149645</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002318" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002318</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002318" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002318</a>]</span><br />
</span>
</div>
</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">
- N-acetylgalactosamine-6-sulfatase deficiency in fibroblasts and leukocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854813&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854813</a>]</span><br /> -
Keratan sulfate excretion in urine that decreases with age <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854814&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854814</a>]</span><br /> -
Chondroitin 6-sulfate excretion in urine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854815&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854815</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">
- Appear normal at birth<br /> -
Onset between 1-3 years<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 galactosamine-6-sulfatase gene (GALNS, <a href="/entry/612222#0001">612222.0001</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>
Mucopolysaccharidoses
- <a href="/phenotypicSeries/PS607014">PS607014</a>
- 13 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/3/149?start=-3&limit=10&highlight=149"> 3p22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253010"> Mucopolysaccharidosis type IVB (Morquio) </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/253010"> 253010 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611458"> GLB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611458"> 611458 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/337?start=-3&limit=10&highlight=337"> 3p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601492"> Mucopolysaccharidosis type IX </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/601492"> 601492 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607071"> HYAL1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607071"> 607071 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/22?start=-3&limit=10&highlight=22"> 4p16.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607014"> Mucopolysaccharidosis Ih </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/607014"> 607014 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252800"> IDUA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252800"> 252800 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/22?start=-3&limit=10&highlight=22"> 4p16.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607016"> Mucopolysaccharidosis Is </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/607016"> 607016 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252800"> IDUA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252800"> 252800 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/22?start=-3&limit=10&highlight=22"> 4p16.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607015"> Mucopolysaccharidosis Ih/s </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/607015"> 607015 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252800"> IDUA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252800"> 252800 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/282?start=-3&limit=10&highlight=282"> 5q14.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253200"> Mucopolysaccharidosis type VI (Maroteaux-Lamy) </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/253200"> 253200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611542"> ARSB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611542"> 611542 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/330?start=-3&limit=10&highlight=330"> 5q15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619698"> Mucopolysaccharidosis, type X </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/619698"> 619698 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610011"> ARSK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610011"> 610011 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/297?start=-3&limit=10&highlight=297"> 7q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253220"> Mucopolysaccharidosis VII </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/253220"> 253220 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611499"> GUSB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611499"> 611499 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/244?start=-3&limit=10&highlight=244"> 8p11.21-p11.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252930"> Mucopolysaccharidosis type IIIC (Sanfilippo C) </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/252930"> 252930 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610453"> HGSNAT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610453"> 610453 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/739?start=-3&limit=10&highlight=739"> 16q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253000"> Mucopolysaccharidosis IVA </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/253000"> 253000 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612222"> GALNS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612222"> 612222 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/579?start=-3&limit=10&highlight=579"> 17q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252920"> Mucopolysaccharidosis type IIIB (Sanfilippo B) </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/252920"> 252920 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609701"> NAGLU </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609701"> 609701 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/1017?start=-3&limit=10&highlight=1017"> 17q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252900"> Mucopolysaccharidosis type IIIA (Sanfilippo A) </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/252900"> 252900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605270"> SGSH </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605270"> 605270 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/783?start=-3&limit=10&highlight=783"> Xq28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/309900"> Mucopolysaccharidosis II </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/309900"> 309900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300823"> IDS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300823"> 300823 </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 mucopolysaccharidosis type IVA (MPS4A; Morquio syndrome A) is caused by homozygous or compound heterozygous mutation in the GALNS gene (<a href="/entry/612222">612222</a>), which encodes galactosamine-6-sulfate sulfatase, on chromosome 16q24.</p><p>See MPS IVB (MPS4B; <a href="/entry/253010">253010</a>), also known as Morquio syndrome B, a genetically distinct disorder with overlapping clinical features caused by mutation in the beta-galactosidase gene (GLB1; <a href="/entry/611458">611458</a>) on chromosome 3p22.</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>Mucopolysaccharidosis type IVA is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system (CNS) involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life (<a href="#39" class="mim-tip-reference" title="Montano, A. M., Tomatsu, S., Brusius, A., Smith, M., Orii, T. &lt;strong&gt;Growth charts for patients affected with Morquio A disease.&lt;/strong&gt; Am. J. Med. Genet. 146A: 1286-1295, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18412124/&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;18412124&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32281&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="18412124">Montano et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18412124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#37" class="mim-tip-reference" title="McKusick, V. A. &lt;strong&gt;Heritable Disorders of Connective Tissue. (4th ed.)&lt;/strong&gt; St. Louis: C. V. Mosby (pub.) 1972."None>McKusick (1972)</a> noted that between 1929 and 1959, a miscellany of skeletal disorders was included in the Morquio category, including various types of spondyloepiphyseal dysplasia (see, e.g., <a href="/entry/183900">183900</a>) and multiple epiphyseal dysplasia (see, e.g., <a href="/entry/132400">132400</a>).</p><p><a href="#41" class="mim-tip-reference" title="Nelson, J., Broadhead, D., Mossman, J. &lt;strong&gt;Clinical findings in 12 patients with MPS IV A (Morquio&#x27;s disease): further evidence for heterogeneity. Part I: clinical and biochemical findings.&lt;/strong&gt; Clin. Genet. 33: 111-120, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3129221/&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;3129221&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1988.tb03421.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="3129221">Nelson et al. (1988)</a> proposed the division of MPS IVA into 3 subgroups: severe classic, intermediate, and mild, reflecting clinical variability observed in 12 enzymatically proven cases. Those who were only mildly affected showed a relatively high residual enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3129221" 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="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>The first cases of Morquio syndrome were likely reported in a French Canadian brother and sister by <a href="#45" class="mim-tip-reference" title="Osler, W. &lt;strong&gt;Sporadic cretinism in America.&lt;/strong&gt; Am. J. Med. Sci. 114: 377-401, 1897."None>Osler (1897)</a> as cases of achondroplasia (ACH; <a href="/entry/100800">100800</a>) (see <a href="#37" class="mim-tip-reference" title="McKusick, V. A. &lt;strong&gt;Heritable Disorders of Connective Tissue. (4th ed.)&lt;/strong&gt; St. Louis: C. V. Mosby (pub.) 1972."None>McKusick, 1972</a>, p 583, fig 11-23).</p><p><a href="#40" class="mim-tip-reference" title="Morquio, L. &lt;strong&gt;Sur une forme de dystrophie osseuse familiale.&lt;/strong&gt; Bull. Soc. Pediat. Paris 27: 145-152, 1929."None>Morquio (1929)</a> in Montevideo, Uruguay, and <a href="#6" class="mim-tip-reference" title="Brailsford, J. F. &lt;strong&gt;Chondro-osteo-dystrophy: roentgenographic and clinical features of child with dislocation of vertebrae.&lt;/strong&gt; Am. J. Surg. 7: 404-410, 1929."None>Brailsford (1929)</a> in Birmingham, England, simultaneously and independently described the entity now known to result from a deficiency of galactosamine-6-sulfatase. <a href="#40" class="mim-tip-reference" title="Morquio, L. &lt;strong&gt;Sur une forme de dystrophie osseuse familiale.&lt;/strong&gt; Bull. Soc. Pediat. Paris 27: 145-152, 1929."None>Morquio (1929)</a> observed the disorder in 4 sibs in a family of Swedish extraction. Notable features included osseous dystrophy, corneal clouding, aortic valve disease, and urinary excretion of keratosulfate.</p><p><a href="#19" class="mim-tip-reference" title="Greenberg, A. D. &lt;strong&gt;Atlantoaxial dislocations.&lt;/strong&gt; Brain 91: 655-684, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5704829/&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;5704829&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/91.4.655&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="5704829">Greenberg (1968)</a> noted that the dangerous complications of atlantoaxial dislocation due to hypoplasia of the odontoid can occur in Morquio disease and in various forms of spondyloepiphyseal dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5704829" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Gadbois, P., Moreau, J., Laberge, C. &lt;strong&gt;La maladie de Morquio dans la province de Quebec.&lt;/strong&gt; Un. Med. Canada 102: 602-607, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4268299/&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;4268299&lt;/a&gt;]" pmid="4268299">Gadbois et al. (1973)</a> identified 48 patients from 27 families with Morquio syndrome in the province of Quebec. Total urinary excretion of keratan sulfate was increased 2 to 3 times that of normal, while urinary excretion of total mucopolysaccharide was within normal limits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4268299" 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="#27" class="mim-tip-reference" title="Hussels, I. &lt;strong&gt;Morquio syndrome in a woman with two normal children. In: Bergsma, D. (ed.): Skeletal Dysplasias.&lt;/strong&gt; Amsterdam: Excerpta Medica (pub.) 1974. Pp. 465-466."None>Hussels (1974)</a> described an affected woman who had 2 normal children. Her brother was also affected.</p><p><a href="#20" class="mim-tip-reference" title="Guiney, W. B., Jr., Stevenson, R. E. &lt;strong&gt;Morquio disease (MPS IV) with survival to age 67 years.&lt;/strong&gt; Proc. Greenwood Genet. Center 1: 84-87, 1982."None>Guiney and Stevenson (1982)</a> described a woman with documented Morquio syndrome due to deficiency of N-acetylgalactosamine-6-sulfate sulfatase who survived to the age of 67 years. After suffering for several days from episodes of unexplained and episodic apnea, she was found dead in bed.</p><p><a href="#22" class="mim-tip-reference" title="Hecht, J. T., Scott, C. I., Jr., Smith, T. K., Williams, J. C. &lt;strong&gt;Mild manifestations of the Morquio syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 18: 369-371, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6431819/&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;6431819&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320180222&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="6431819">Hecht et al. (1984)</a> reported a 14-year-old boy with a very mild form of Morquio syndrome who presented as having nonresolving bilateral Legg-Perthes disease. He had short stature (15th percentile for height) and a short trunk, but did not have pectus carinatum, genu valgum, excessive joint laxity, corneal clouding, or facial changes. Radiographic studies showed mild platyspondyly, anterior wedging of the first lumbar vertebra, and minimal odontoid hypoplasia, as well as abnormal capital femoral epiphyses. N-acetylgalactosamine-6-sulfate sulfatase activity was undetectable in leukocytes and low in fibroblasts. Urine keratan sulfate was increased at 22.9 mg/total volume (normal less than 2 mg/total volume). Together with the cases of <a href="#14" class="mim-tip-reference" title="Fujimoto, A., Horwitz, A. L. &lt;strong&gt;Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome.&lt;/strong&gt; Am. J. Med. Genet. 15: 265-273, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6224421/&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;6224421&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320150210&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="6224421">Fujimoto and Horwitz (1983)</a> and 2 cases of <a href="#25" class="mim-tip-reference" title="Holzgreve, W., Grobe, H., von Figura, K., Kresse, H., Beck, H., Mattei, J. F. &lt;strong&gt;Morquio syndrome: clinical findings in 11 patients with MPS IVA and 2 patients with MPS IVB.&lt;/strong&gt; Hum. Genet. 57: 360-365, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6793501/&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;6793501&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00281685&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="6793501">Holzgreve et al. (1981)</a>, this experience suggested the existence of a mild form of MPS IVA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6793501+6431819+6224421" 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="#2" class="mim-tip-reference" title="Beck, M., Glossl, J., Grubisic, A., Spranger, J. &lt;strong&gt;Heterogeneity of Morquio disease.&lt;/strong&gt; Clin. Genet. 29: 325-331, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3087664/&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;3087664&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1986.tb01262.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="3087664">Beck et al. (1986)</a> suggested that there are severe, intermediate, and mild forms of N-acetylgalactosamine-6-sulfate (GalNAc-6-S) sulfatase deficiency. They described a 30-year-old man who was 156 cm tall and had severe hip disease, fine corneal deposits by slit-lamp, and a wedge-shaped first lumbar vertebra. Although there was no increase in urinary keratosulfate, GALNS activity was markedly decreased in fibroblasts. The authors noted the similarities to so-called 'nonkeratosulfate-excreting Morquio syndrome' (<a href="/entry/252300">252300</a>), which may be a variant of Morquio A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3087664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In all of 12 patients with MPS IVA, <a href="#44" class="mim-tip-reference" title="Nelson, J., Thomas, P. S. &lt;strong&gt;Clinical findings in 12 patients with MPS IV A (Morquio&#x27;s disease): further evidence for heterogeneity. Part III: odontoid dysplasia.&lt;/strong&gt; Clin. Genet. 33: 126-130, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3129223/&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;3129223&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1988.tb03423.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="3129223">Nelson and Thomas (1988)</a> found odontoid dysplasia in the absence or presence of atlanto-axial instability. In general, the findings correlated well with the overall clinical severity of the condition. The authors emphasized the importance of careful follow-up of these patients for symptoms or signs of cervical cord compression. Proven compromise of the upper cervical cord would be an indication for posterior fusion of the upper cervical spine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3129223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#39" class="mim-tip-reference" title="Montano, A. M., Tomatsu, S., Brusius, A., Smith, M., Orii, T. &lt;strong&gt;Growth charts for patients affected with Morquio A disease.&lt;/strong&gt; Am. J. Med. Genet. 146A: 1286-1295, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18412124/&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;18412124&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32281&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="18412124">Montano et al. (2008)</a> developed growth curves based on data from 354 patients with Morquio A disease. The mean birth lengths of boys and girls were 52.6 and 52.1 cm, respectively. The mean final heights for males and females at 18 years and older were 122.4 and 113.1 cm, respectively, which corresponded to -7.4 SD for males and -7.7 SD for females compared to controls. The mean body mass index for males and females at or over 18 years of age was 24.7 and 25.6 kg/m(2), respectively. The growth pattern in Morquio A patients was characterized by impaired growth velocity after 1 year of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18412124" 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="Harmatz, P. R., Mengel, K. E., Giugliani, R., Valayannopoulos, V., Lin, S.-P., Parini, R., Guffon, N., Burton, B. K., Hendriksz, C. J., Mitchell, J. J., Martins, A. M., Jones, S. A., Guelbert, N., Vellodi, A., Wijburg, F. A., Yang, K., Slasor, P., Decker, C. &lt;strong&gt;Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.&lt;/strong&gt; Molec. Genet. Metab. 114: 186-194, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25582974/&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;25582974&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2014.10.015&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="25582974">Harmatz et al. (2015)</a> performed a longitudinal analysis of endurance and respiratory function from a natural history study of patients with Morquio A syndrome. The authors used a 6-minute walk test and a 3-minute stair climb test as well as measuring respiratory evaluation by forced vital capacity (FVC) and maximum voluntary ventilation (MVV). At year 0 (baseline), 353 subjects were assessed; at year 1, 184; and at year 2, 78. The overall annualized estimate of change in the 6-minute walk test distance was -4.86 +/- 3.25 m. In contrast, little change (-0.14 +/- 0.60 stairs/min) was observed in the 3-minute stair climb test. Annualized changes in FVC and MVV were 2.44 +/- 0.68% and 1.01 +/- 2.38%, respectively. FVC and MVV increased in patients less than 14 years of age, but decreased in older patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25582974" 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="Caciotti, A., Tonin, R., Rigoldi, M., Ferri, L., Catarzi, S., Cavicchi, C., Procopio, E., Donati, M. A., Ficcadenti, A., Fiumara, A., Barone, R., Garavelli, L., and 16 others. &lt;strong&gt;Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio--A syndrome-associated mutations.&lt;/strong&gt; Hum. Mutat. 36: 357-368, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25545067/&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;25545067&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.22751&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="25545067">Caciotti et al. (2015)</a> reported the clinical data, biochemical assays, molecular analyses, and in silico structural analyses of mutations in 37 MPS IVA patients. Thirty-one patients had the severe phenotype, 3 were intermediate, and 3 were mild. The phenotypic features of the patients were reported in the supplemental material for this paper. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25545067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="biochemicalFeatures" class="mim-anchor"></a>
<h4 href="#mimBiochemicalFeaturesFold" id="mimBiochemicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimBiochemicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Biochemical Features</strong>
</span>
</h4>
</div>
<div id="mimBiochemicalFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#36" class="mim-tip-reference" title="Matalon, R., Arbogast, B., Dorfman, A. &lt;strong&gt;Morquio&#x27;s syndrome: a deficiency of chondroitin sulfate N-acetylhexosamine sulfate sulfatase. (Abstract)&lt;/strong&gt; Pediat. Res. 8: 436, 1974."None>Matalon et al. (1974)</a> concluded that the enzyme deficiency in Morquio disease involves 6-sulfatase, which catalyzes both keratan sulfate and chondroitin sulfate. <a href="#13" class="mim-tip-reference" title="Di Ferrante, N. M., Ginsberg, L. C., Donnelly, P. V., Di Ferrante, D. T., Caskey, C. T. &lt;strong&gt;Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses.&lt;/strong&gt; Science 199: 79-81, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17569489/&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;17569489&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.199.4324.79&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="17569489">Di Ferrante et al. (1978)</a> further suggested that the defect concerns galactosamine-6-sulfate sulfatase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17569489" 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="#17" class="mim-tip-reference" title="Glossl, J., Kresse, H., Mendla, K., Cantz, M., Rosenkranz, W. &lt;strong&gt;Partial deficiency of glycoprotein neuraminidase in some patients with Morquio disease type A.&lt;/strong&gt; Pediat. Res. 18: 302-305, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6427747/&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;6427747&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1203/00006450-198403000-00025&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="6427747">Glossl et al. (1984)</a> found that fibroblasts from some cases of MPS IVA also showed a deficiency of neuraminidase (NEU1; <a href="/entry/608272">608272</a>) in addition to the expected deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Residual neuraminidase activity was about 5% of normal, whereas GalNAc-6-S sulfatase activity was less than 1%. Neuraminidase was normal in peripheral leukocytes. Somatic cell hybridization of the patient's fibroblasts with those of another patient with MPS IVA did not correct the sulfatase deficiency, but fusion with sialidosis fibroblasts produced an increase in neuraminidase levels. Restudy of 10 different MPS IVA cell lines showed low neuraminidase in 2 and low normal in 6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6427747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="otherFeatures" class="mim-anchor"></a>
<h4 href="#mimOtherFeaturesFold" id="mimOtherFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimOtherFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Other Features</strong>
</span>
</h4>
</div>
<div id="mimOtherFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#30" class="mim-tip-reference" title="Levin, L. S., Jorgenson, R. J., Salinas, C. F. &lt;strong&gt;Oral findings in the Morquio syndrome (mucopolysaccharidosis IV).&lt;/strong&gt; Oral Surg. Oral Med. Oral Path. 39: 390-395, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/803669/&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;803669&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0030-4220(75)90082-1&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="803669">Levin et al. (1975)</a> described the classic oral abnormalities found among 12 patients with Morquio A syndrome. The maxillary anterior teeth were widely spaced and flared, and the posterior teeth were tapered with pointed cusp tips. The enamel was of normal hardness, but some patients had pitted enamel with decreased thickness. The hard palate was broad and flat. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=803669" 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="#43" class="mim-tip-reference" title="Nelson, J., Kinirons, M. &lt;strong&gt;Clinical findings in 12 patients with MPS IV A (Morquio&#x27;s disease): further evidence for heterogeneity. Part II: dental findings.&lt;/strong&gt; Clin. Genet. 33: 121-125, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3129222/&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;3129222&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1988.tb03422.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="3129222">Nelson and Kinirons (1988)</a> found typical dental changes in all of 12 patients with the disorder, although the changes were of variable degree. The dental changes were found only in MPS IVA and not in MPS IVB. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3129222" 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="#9" class="mim-tip-reference" title="Cahane, M., Treister, G., Abraham, F. A., Melamed, S. &lt;strong&gt;Glaucoma in siblings with Morquio syndrome.&lt;/strong&gt; Brit. J. Ophthal. 74: 382-383, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2116163/&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;2116163&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.74.6.382&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="2116163">Cahane et al. (1990)</a> reported a brother and sister in their thirties with Morquio syndrome who developed glaucoma, a complication observed in other forms of mucopolysaccharidosis and mucolipidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2116163" 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="#5" class="mim-tip-reference" title="Borlot, F., Arantes, P. R., Quaio, C. R., Franco, J. F. S., Lourenco, C. M., Gomy, I., Bertola, D. R., Kim, C. A. &lt;strong&gt;Mucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvement.&lt;/strong&gt; Am. J. Med. Genet. 164A: 1162-1169, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24478273/&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;24478273&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.36424&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="24478273">Borlot et al. (2014)</a> specifically assessed the CNS involvement in 9 Brazilian patients with MPS IVA confirmed by biochemical analysis. The patients ranged in age from 5 to 26 years. All had motor weakness, and 6 had impaired deep sensation. Cognition was normal in all but 1, who had delayed development at age 5. In 7 patients, brain and spinal cord imaging showed variable abnormalities, including clival hypoplasia, basilar invagination, and arachnoid cysts. All patients had odontoid hypoplasia and degenerative features of the neuroaxis, and 8 had spinal cord compression. <a href="#5" class="mim-tip-reference" title="Borlot, F., Arantes, P. R., Quaio, C. R., Franco, J. F. S., Lourenco, C. M., Gomy, I., Bertola, D. R., Kim, C. A. &lt;strong&gt;Mucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvement.&lt;/strong&gt; Am. J. Med. Genet. 164A: 1162-1169, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24478273/&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;24478273&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.36424&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="24478273">Borlot et al. (2014)</a> recommended thorough neurologic examination and imaging of all patients with MPS IVA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24478273" 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="diagnosis" class="mim-anchor"></a>
<h4 href="#mimDiagnosisFold" id="mimDiagnosisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDiagnosisToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<div id="mimDiagnosisFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>In fibroblasts isolated from affected members of 6 families with Morquio syndrome, <a href="#12" class="mim-tip-reference" title="Danes, B. S., Bearn, A. G. &lt;strong&gt;Cellular metachromasia, a genetic marker for studying the mucopolysaccharidoses.&lt;/strong&gt; Lancet 289: 241-243, 1967. Note: Originally Volume 1.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4163146/&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;4163146&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(67)91302-5&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="4163146">Danes and Bearn (1967)</a> found no evidence for metachromasia. In contrast, fibroblasts isolated from patients with other forms of mucopolysaccharidosis did show metachromasia. <a href="#12" class="mim-tip-reference" title="Danes, B. S., Bearn, A. G. &lt;strong&gt;Cellular metachromasia, a genetic marker for studying the mucopolysaccharidoses.&lt;/strong&gt; Lancet 289: 241-243, 1967. Note: Originally Volume 1.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4163146/&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;4163146&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(67)91302-5&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="4163146">Danes and Bearn (1967)</a> noted that classic Morquio syndrome involves only the skeletal system and postulated that had tissue from the cornea, cartilage, or growing bone been examined, metachromasia may have been present. Based on the findings, the authors suggested that Morquio syndrome should not be classified as a generalized mucopolysaccharidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4163146" 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="#41" class="mim-tip-reference" title="Nelson, J., Broadhead, D., Mossman, J. &lt;strong&gt;Clinical findings in 12 patients with MPS IV A (Morquio&#x27;s disease): further evidence for heterogeneity. Part I: clinical and biochemical findings.&lt;/strong&gt; Clin. Genet. 33: 111-120, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3129221/&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;3129221&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1988.tb03421.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="3129221">Nelson et al. (1988)</a> found that examination of urinary glycosaminoglycans by a 2-dimensional electrophoresis technique was a reliable and efficient diagnostic assay with no false-negative results. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3129221" 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>Prenatal Diagnosis</em></strong></p><p>
<a href="#1" class="mim-tip-reference" title="Beck, M., Braun, S., Coerdt, W., Merz, E., Young, E., Sewell, A. C. &lt;strong&gt;Fetal presentation of Morquio disease type A.&lt;/strong&gt; Prenatal Diag. 12: 1019-1029, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1287637/&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;1287637&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/pd.1970121207&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="1287637">Beck et al. (1992)</a> made the diagnosis of MPS IVA in a fetus at 23 weeks of gestation. A previously born child was affected. Ultrasound showed moderate ascites, and keratan sulfate was found in the amniotic fluid. The diagnosis was confirmed after pregnancy termination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1287637" 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><a href="#23" class="mim-tip-reference" title="Hendriksz, C. J., Burton, B., Fleming, T. R., Harmatz, P., Hughes, D., Jones, S. A., Lin, S.-P., Mengel, E., Scarpa, M., Valayannopoulos, V., Giugliani, R., STRIVE Investigators, Slasor, P., Lounsbury, D., Dummer, W. &lt;strong&gt;Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study.&lt;/strong&gt; J. Inherit. Metab. Dis. 37: 979-990, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24810369/&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;24810369&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=24810369[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10545-014-9715-6&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="24810369">Hendriksz et al. (2014)</a> reported the outcome of a phase 3 randomized placebo-controlled study of elosulfase alfa administered to 176 patients over the age of 5 years with Morquio A syndrome. These patients were randomized (1:1:1) to receive elosulfase alfa 2.0 mg/kg every other week, elosulfase alfa 2.0 mg/kg/week, or placebo for 24 weeks. The primary efficacy measure was a 6-minute walk test distance. Secondary efficacy measures were a 3-minute stair climb test, followed by changes in urine keratan sulfate. <a href="#23" class="mim-tip-reference" title="Hendriksz, C. J., Burton, B., Fleming, T. R., Harmatz, P., Hughes, D., Jones, S. A., Lin, S.-P., Mengel, E., Scarpa, M., Valayannopoulos, V., Giugliani, R., STRIVE Investigators, Slasor, P., Lounsbury, D., Dummer, W. &lt;strong&gt;Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study.&lt;/strong&gt; J. Inherit. Metab. Dis. 37: 979-990, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24810369/&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;24810369&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=24810369[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10545-014-9715-6&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="24810369">Hendriksz et al. (2014)</a> found that elosulfase alfa improved endurance as measured by the 6-minute walk test in the weekly, but not in the every-other-week, dose group; it did not improve endurance on the 3-minute stair climb test, but it did reduce urine keratan sulfate and had an acceptable safety profile. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24810369" 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="#10" class="mim-tip-reference" title="Charrow, J., Alden, T. D., Breathnach, C. A. R., Frawley, G. P., Hendriksz, C. J., Link, B., Mackenzie, W. G., Manara, R., Offiah, A. C., Solano, M. L., Theroux, M. &lt;strong&gt;Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome.&lt;/strong&gt; Molec. Genet. Metab. 114: 11-18, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25496828/&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;25496828&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2014.10.010&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="25496828">Charrow et al. (2015)</a> reviewed consensus recommendations for diagnostic evaluation, monitoring, and perioperative management of spinal cord compression that were developed by a multinational, multidisciplinary panel of experts to assess patients with Morquio syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25496828" 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="#24" class="mim-tip-reference" title="Hendriksz, C., Santra, S., Jones, S. A., Geberhiwot, T., Jesaitis, L., Long, B., Qi, Y., Hawley, S. M., Decker, C. &lt;strong&gt;Safety, immunogenicity, and clinical outcomes in patients with Morquio A syndrome participating in 2 sequential open-label studies of elosulfase alfa enzyme replacement therapy (MOR-002/MOR-100), representing 5 years of treatment.&lt;/strong&gt; Molec. Genet. Metab. 123: 479-487, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29526614/&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;29526614&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2018.02.011&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="29526614">Hendriksz et al. (2018)</a> reported the outcome of 2 sequential open label studies on treatment with elosulfase alfa in patients with Morquio A syndrome. The first study involved escalating doses of elosulfase alfa of 0.1, 1.0, and 2.0 mg/kg/week in 20 patients, followed by a long-term extension study of 2.0 mg/kg/week in 17 of the first-study participants. <a href="#24" class="mim-tip-reference" title="Hendriksz, C., Santra, S., Jones, S. A., Geberhiwot, T., Jesaitis, L., Long, B., Qi, Y., Hawley, S. M., Decker, C. &lt;strong&gt;Safety, immunogenicity, and clinical outcomes in patients with Morquio A syndrome participating in 2 sequential open-label studies of elosulfase alfa enzyme replacement therapy (MOR-002/MOR-100), representing 5 years of treatment.&lt;/strong&gt; Molec. Genet. Metab. 123: 479-487, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29526614/&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;29526614&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2018.02.011&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="29526614">Hendriksz et al. (2018)</a> found that urinary keratin sulfate decreased concurrently with increasing doses of elosulfase alfa. Disease stabilization was suggested, as study participants did not seem to have the progressive clinical deterioration that would be expected in an untreated natural history population. Antidrug antibodies were identified in all patients, but this was not associated with changes in clinical parameters, urine keratin sulfate content, or adverse events. There was a favorable safety profile over the 5 years of the studies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29526614" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>In patients with MPS IVA, <a href="#52" class="mim-tip-reference" title="Tomatsu, S., Fukuda, S., Masue, M., Sukegawa, K., Masuno, M., Orii, T. &lt;strong&gt;Mucopolysaccharidosis type IVA: characterization and chromosomal localization of N-acetylgalactosamine-6-sulfate sulfatase gene and genetic heterogeneity. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 51 (suppl.): A178, 1992."None>Tomatsu et al. (1992)</a> identified 4 different mutations in the GALNS gene (<a href="/entry/612222#0001">612222.0001</a>-<a href="/entry/612222#0004">612222.0004</a>).</p><p>In 5 unrelated Japanese patients with MPS IVA, <a href="#26" class="mim-tip-reference" title="Hori, T., Tomatsu, S., Nakashima, Y., Uchiyama, A., Fukuda, S., Sukegawa, K., Shimozawa, N., Suzuki, Y., Kondo, N., Horiuchi, T., Ogura, S., Orii, T. &lt;strong&gt;Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS).&lt;/strong&gt; Genomics 26: 535-542, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7607677/&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;7607677&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0888-7543(95)80172-i&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="7607677">Hori et al. (1995)</a> found, in heteroallelic state, 2 separate deletions of nearly 8.0 and 6.0 kb in the GALNS gene. There were Alu repetitive elements near the breakpoints of the 8.0-kb deletion; this deletion had clearly resulted from an Alu-Alu recombination. The 6.0-kb deletion involved illegitimate recombinational events between incomplete short direct repeats of 8 bp at the deletion breakpoints. This was the first documentation of a frequently occurring double deletion in a gene that is not a member of a gene cluster. One of the patients was homozygous for the double deletion, and the others were heterozygous. In the 4 heterozygous patients, <a href="#53" class="mim-tip-reference" title="Tomatsu, S., Fukuda, S., Yamagishi, A., Cooper, A., Wraith, J. E., Hori, T., Kato, Z., Yamada, N., Isogai, K., Sukegawa, K., Kondo, N., Suzuki, Y., Shimozawa, N., Orii, T. &lt;strong&gt;Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.&lt;/strong&gt; Am. J. Hum. Genet. 58: 950-962, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8651279/&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;8651279&lt;/a&gt;]" pmid="8651279">Tomatsu et al. (1996)</a> identified novel mutations in the GALNS gene on the other allele: 1 nonsense and 3 missense. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7607677+8651279" 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="#7" class="mim-tip-reference" title="Bunge, S., Kleijer, W. J., Tylki-Szymanska, A., Steglich, C., Beck, M., Tomatsu, S., Fukuda, S., Poorthuis, B. J. H. M., Czartoryska, B., Orii, T., Gal, A. &lt;strong&gt;Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.&lt;/strong&gt; Hum. Mutat. 10: 223-232, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9298823/&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;9298823&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(1997)10:3&lt;223::AID-HUMU8&gt;3.0.CO;2-J&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="9298823">Bunge et al. (1997)</a> performed mutation analysis of the GALNS gene in 35 patients with MPS IVA from 33 families, mainly of European origin. By nonradioactive SSCP screening, they identified 35 different gene mutations, 31 of them novel. Together they accounted for 88.6% of the disease alleles of the patients investigated. The great majority of the gene alterations proved to be point mutations, 23 missense, 2 nonsense, and 3 affecting splicing. Six small deletions (1 to 27 bp) and 1 insertion were also characterized. In a Polish family, 2 mildly affected sibs were compound heterozygous for 2 mutations in the GALNS gene: R94G (<a href="/entry/612222#0008">612222.0008</a>) and R259Q (<a href="/entry/612222#0009">612222.0009</a>). Their mother, who was homozygous for the R259Q mutation, was found to have greatly reduced enzymatic activity, but only limited manifestations of MPS IVA: short trunk with slight prominence of sternum, and hoarse voice. She had no corneal clouding and was 1.60 m tall. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9298823" 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>Analyzing DNA from 21 patients of diverse ethnic and geographic origins by SSCP and sequencing, <a href="#51" class="mim-tip-reference" title="Tomatsu, S., Fukuda, S., Cooper, A., Wraith, J. E., Ferreira, P., Di Natale, P., Tortora, P., Fujimoto, A., Kato, Z., Yamada, N., Isogai, K., Yamagishi, A., Sukegawa, K., Suzuki, Y., Shimozawa, N., Kondo, N., Sly, W. S., Orii, T. &lt;strong&gt;Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.&lt;/strong&gt; Hum. Mutat. 10: 368-375, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9375852/&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;9375852&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(1997)10:5&lt;368::AID-HUMU6&gt;3.0.CO;2-B&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="9375852">Tomatsu et al. (1997)</a> detected 16 mutations in the GALNS gene, including 14 new mutations (11 missense, 1 premature termination, 1 splice site alteration, and 1 cryptic site alteration). All 12 missense and nonsense mutations were shown by transient expression to abolish or greatly reduce GALNS activity, thereby providing an explanation as to why they produce MPS IVA. All mutations were readily confirmed by restriction enzyme or allele-specific oligonucleotide analysis. These findings, coupled with previously reported mutations, brought the total of different mutations to 41 among independent families with Morquio syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9375852" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#54" class="mim-tip-reference" title="Tomatsu, S., Montano, A. M., Nishioka, T., Gutierrez, M. A., Pena, O. M., Trandafirescu, G. G., Lopez, P., Yamaguchi, S., Noguchi, A., Orii, T. &lt;strong&gt;Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).&lt;/strong&gt; Hum. Mutat. 26: 500-512, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16287098/&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;16287098&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20257&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="16287098">Tomatsu et al. (2005)</a> summarized information on 148 unique mutations in the GALNS gene, including 26 novel mutations. Heterogeneity in GALNS mutations accounted for an extensive clinical variability within MPS IVA. They noted that 7 nonsynonymous SNPs and 9 synonymous SNPs had been described. Of the analyzed mutant alleles, missense mutations accounted for 78.4%; small deletions, 9.2%; nonsense mutations, 5.0%; large deletions, 2.4%; and insertions, 1.6%. Transitional mutations at CpG dinucleotides accounted for 26.4% of all the described mutations. Three missense mutations accounted for over 5% of all mutations: R386C (<a href="/entry/612222#0003">612222.0003</a>), G301C (<a href="/entry/612222#0010">612222.0010</a>), and I113F (<a href="/entry/612222#0005">612222.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16287098" 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="Caciotti, A., Tonin, R., Rigoldi, M., Ferri, L., Catarzi, S., Cavicchi, C., Procopio, E., Donati, M. A., Ficcadenti, A., Fiumara, A., Barone, R., Garavelli, L., and 16 others. &lt;strong&gt;Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio--A syndrome-associated mutations.&lt;/strong&gt; Hum. Mutat. 36: 357-368, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25545067/&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;25545067&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.22751&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="25545067">Caciotti et al. (2015)</a> studied 37 Italian MPS IVA patients and found that standard sequencing procedures failed to characterize the second disease-causing mutation in 16% of patients. Searching for large rearrangements and mRNA defects in this 16% identified splicing defects or large deletions on the other allele in 67% of these. <a href="#8" class="mim-tip-reference" title="Caciotti, A., Tonin, R., Rigoldi, M., Ferri, L., Catarzi, S., Cavicchi, C., Procopio, E., Donati, M. A., Ficcadenti, A., Fiumara, A., Barone, R., Garavelli, L., and 16 others. &lt;strong&gt;Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio--A syndrome-associated mutations.&lt;/strong&gt; Hum. Mutat. 36: 357-368, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25545067/&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;25545067&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.22751&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="25545067">Caciotti et al. (2015)</a> reported 14 novel mutations in GALNS among the 37 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25545067" 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>Morquio Syndrome and APRT Deficiency</em></strong></p><p>
<a href="#59" class="mim-tip-reference" title="Wang, L., Ou, X., Sebesta, I., Vondrak, K., Krijt, J., Elleder, M., Poupetova, H., Ledvinova, J., Zeman, J., Simmonds, H. A., Tischfield, J. A., Sahota, A. &lt;strong&gt;Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.&lt;/strong&gt; Molec. Genet. Metab. 68: 78-85, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10479485/&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;10479485&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/mgme.1999.2893&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="10479485">Wang et al. (1999)</a> described a Czech patient with Morquio syndrome and adenine phosphoribosyltransferase (APRT; <a href="/entry/102600">102600</a>) deficiency with subsequent 2,8-dihydroxyadenine urolithiasis, both of which were caused by a 100-kb deletion on chromosome 16q24.3 with breakpoints in intron 2 of the GALNS gene and intron 2 of the APRT gene. <a href="#15" class="mim-tip-reference" title="Fukuda, S., Tomatsu, S., Masuno, M., Ogawa, T., Yamagishi, A., Rezvi, G. M. M., Sukegawa, K., Shimozawa, N., Suzuki, Y., Kondo, N., Imaizumi, K., Kuroki, Y., Okabe, T., Orii, T. &lt;strong&gt;Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.&lt;/strong&gt; Hum. Mutat. 7: 123-134, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8829629/&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;8829629&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(1996)7:2&lt;123::AID-HUMU6&gt;3.0.CO;2-D&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="8829629">Fukuda et al. (1996)</a> described a Japanese patient with a submicroscopic deletion involving GALNS and APRT in one chromosome and a point mutation in the other GALNS allele (R386C; <a href="/entry/612222#0003">612222.0003</a>). <a href="#59" class="mim-tip-reference" title="Wang, L., Ou, X., Sebesta, I., Vondrak, K., Krijt, J., Elleder, M., Poupetova, H., Ledvinova, J., Zeman, J., Simmonds, H. A., Tischfield, J. A., Sahota, A. &lt;strong&gt;Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.&lt;/strong&gt; Molec. Genet. Metab. 68: 78-85, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10479485/&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;10479485&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/mgme.1999.2893&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="10479485">Wang et al. (1999)</a> concluded that APRT is located telomeric to GALNS on 16q24.3, that GALNS and APRT are transcribed in the same orientation (centromeric to telomeric), and that combined APRT/GALNS deficiency may be more common than hitherto realized. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8829629+10479485" 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><a href="#50" class="mim-tip-reference" title="Sukegawa, K., Nakamura, H., Kato, Z., Tomatsu, S., Montano, A. M., Fukao, T., Toietta, G., Tortora, P., Orii, T., Kondo, N. &lt;strong&gt;Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.&lt;/strong&gt; Hum. Molec. Genet. 9: 1283-1290, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10814710/&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;10814710&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/9.9.1283&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="10814710">Sukegawa et al. (2000)</a> studied 15 missense mutations and 2 newly engineered active site mutations (C79S, C79T) in the GALNS gene by transient expression analysis. Mutant proteins, except for C79S and C79T, were destabilized and detected as insoluble precursor forms, while the C79S and C79T mutants were of a soluble mature size. Mutations identified in patients with the severe phenotype had no activity, whereas mutations identified in patients with the mild phenotype had a considerable residual activity (1.3-13.3% of wildtype GALNS activity). <a href="#50" class="mim-tip-reference" title="Sukegawa, K., Nakamura, H., Kato, Z., Tomatsu, S., Montano, A. M., Fukao, T., Toietta, G., Tortora, P., Orii, T., Kondo, N. &lt;strong&gt;Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.&lt;/strong&gt; Hum. Molec. Genet. 9: 1283-1290, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10814710/&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;10814710&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/9.9.1283&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="10814710">Sukegawa et al. (2000)</a> also constructed a tertiary structural model of human GALNS from the x-ray crystal structure of homologous sulfatases and investigated 32 missense mutations. The authors proposed 3 different biochemical models for the severe phenotype: (i) destruction of the hydrophobic core or modification of the packing; (ii) removal of a salt bridge to destabilize the entire conformation; (iii) modification of the active site. In contrast, mild mutations were mostly located on the surface of the GALNS protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10814710" 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>In British Columbia, between 1952 and 1986, 6 cases of MPS IVA were observed, yielding a frequency of 1 in 216,412 live births (<a href="#32" class="mim-tip-reference" title="Lowry, R. B., Applegarth, D. A., Toone, J. R., MacDonald, E., Thunem, N. Y. &lt;strong&gt;An update on the frequency of mucopolysaccharide syndromes in British Columbia.&lt;/strong&gt; Hum. Genet. 85: 389-390, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2118475/&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;2118475&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00206770&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="2118475">Lowry et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2118475" 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 multiple ascertainment sources, <a href="#42" class="mim-tip-reference" title="Nelson, J., Crowhurst, J., Carey, B., Greed, L. &lt;strong&gt;Incidence of the mucopolysaccharidoses in western Australia.&lt;/strong&gt; Am. J. Med. Genet. 123A: 310-313, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14608657/&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;14608657&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20314&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="14608657">Nelson et al. (2003)</a> obtained an incidence rate for MPS IVA in western Australia for the period 1969 to 1996 of approximately 1 in 640,000 live births. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14608657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#60" class="mim-tip-reference" title="Wang, Z., Zhang, W., Wang, Y., Meng, Y., Su, L., Shi, H., Huang, S. &lt;strong&gt;Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.&lt;/strong&gt; J. Hum. Genet. 55: 534-540, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20574428/&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;20574428&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/jhg.2010.65&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="20574428">Wang et al. (2010)</a> identified 27 GALNS mutations, including 16 novel mutations, among 24 Chinese patients with MPS IVA. Approximately 63% of the mutations found in the Chinese patients were not observed in other countries, suggesting that a different mutational spectrum may exist in the Chinese population. The most common mutation G340D (<a href="/entry/612222#0018">612222.0018</a>) was present in 8 (16.7%) of 48 mutant alleles and was found only in 5 patients from central eastern China. Haplotype analysis indicated a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20574428" 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="Caciotti, A., Tonin, R., Rigoldi, M., Ferri, L., Catarzi, S., Cavicchi, C., Procopio, E., Donati, M. A., Ficcadenti, A., Fiumara, A., Barone, R., Garavelli, L., and 16 others. &lt;strong&gt;Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio--A syndrome-associated mutations.&lt;/strong&gt; Hum. Mutat. 36: 357-368, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25545067/&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;25545067&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.22751&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="25545067">Caciotti et al. (2015)</a> reported a population incidence for MPS IVA of about 1 in 300,000 live births in Italy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25545067" 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="#28" class="mim-tip-reference" title="Khan, S. A., Peracha, H., Ballhausen, D., Wiesbauer, A., Rohrbach, M., Gautschi, M., Mason, R. W., Giugliani, R., Suzuki, Y., Orii, K. E., Orii, T., Tomatsu, S. &lt;strong&gt;Epidemiology of mucopolysaccharidoses.&lt;/strong&gt; Molec. Genet. Metab. 121: 227-240, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28595941/&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;28595941&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=28595941[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2017.05.016&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="28595941">Khan et al. (2017)</a> analyzed the epidemiology of the mucopolysaccharidoses in Japan and Switzerland and compared them to similar data from other countries. Data for Japan was collected between 1982 and 2009, and 467 cases with MPS were identified. The combined birth prevalence was 1.53 per 100,000 live births. The highest birth prevalence was 0.84 for MPS II (<a href="/entry/309900">309900</a>), accounting for 55% of all MPS. MPS I (see <a href="/entry/607014">607014</a>), III (see <a href="/entry/252900">252900</a>), and IV accounted for 15%, 16%, and 10%, respectively. MPS VI (<a href="/entry/253200">253200</a>) and VII (<a href="/entry/253220">253220</a>) were more rare and accounted for 1.7% and 1.3%, respectively. A retrospective epidemiologic data collection was performed in Switzerland between 1975 and 2008 (34 years), and 41 living MPS patients were identified. The combined birth prevalence was 1.56 per 100,000 live births. The highest birth prevalence was 0.46 for MPS II, accounting for 29% of all MPS. MPS I, III, and IV accounted for 12%, 24%, and 24%, respectively. As seen in the Japanese population, MPS VI and VII were more rare and accounted for 7.3% and 2.4%, respectively. The high birth prevalence of MPS II in Japan was comparable to that seen in other East Asian countries where this MPS accounted for approximately 50% of all forms of MPS. Birth prevalence was also similar in some European countries (Germany, Northern Ireland, Portugal and the Netherlands) although the prevalence of other forms of MPS was also reported to be higher in these countries. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28595941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="history" class="mim-anchor"></a>
<h4 href="#mimHistoryFold" id="mimHistoryToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimHistoryToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<div id="mimHistoryFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#61" class="mim-tip-reference" title="Wiedemann, H.-R. &lt;strong&gt;The pioneers of pediatric medicine: Luis Morquio (1867-1935).&lt;/strong&gt; Europ. J. Pediat. 151: 549, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1505567/&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;1505567&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01957716&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="1505567">Wiedemann (1992)</a> provided a biographic sketch of Luis Morquio (1867-1935) of Montevideo. <a href="#11" class="mim-tip-reference" title="Chudley, A. E., Chakravorty, C. &lt;strong&gt;Genetic landmarks through philately: Luis Morquio 1867-1935.&lt;/strong&gt; Clin. Genet. 62: 438-439, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12485190/&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;12485190&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1034/j.1399-0004.2002.620603.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="12485190">Chudley and Chakravorty (2002)</a> published illustrations of 2 Uruguayan postal stamps honoring Morquio, one issued in 1969 and the other in 2001. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12485190+1505567" 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="#3" class="mim-tip-reference" title="Bernal, J. E., Briceno, I. &lt;strong&gt;Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia-Ecuador.&lt;/strong&gt; Clin. Genet. 70: 188-191, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16922718/&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;16922718&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2006.00670.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="16922718">Bernal and Briceno (2006)</a> examined pottery artifacts from the Tumaco-La Tolita culture, which existed on the border of present-day Colombia and Ecuador approximately 2,500 years ago, and described multiple figurines of an adult with apparent short stature, coarse facies, short nose, short neck, small thorax, and the left shoulder set higher than the right, findings suggestive of mucopolysaccharidosis IV. <a href="#3" class="mim-tip-reference" title="Bernal, J. E., Briceno, I. &lt;strong&gt;Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia-Ecuador.&lt;/strong&gt; Clin. Genet. 70: 188-191, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16922718/&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;16922718&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2006.00670.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="16922718">Bernal and Briceno (2006)</a> believed these artifacts to be among the earliest artistic representations of disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16922718" 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><a href="#57" class="mim-tip-reference" title="Tomatsu, S., Orii, K. O., Vogler, C., Nakayama, J., Levy, B., Grubb, J. H., Gutierrez, M. A., Shim, S., Yamaguchi, S., Nishioka, T., Montano, A. M., Noguchi, A., Orii, T., Kondo, N., Sly, W. S. &lt;strong&gt;Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease.&lt;/strong&gt; Hum. Molec. Genet. 12: 3349-3358, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14583446/&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;14583446&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddg366&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="14583446">Tomatsu et al. (2003)</a> generated transgenic mice homozygous for a disruption in exon 2 of the Galns gene. These mice had no detectable GALNS enzyme activity, showed increased urinary glycosaminoglycan levels, and accumulated glycosaminoglycans in multiple tissues including liver, kidney, spleen, heart, brain, and bone marrow. At 2 months old, lysosomal storage was present primarily within reticuloendothelial cells. By 12 months old, vacuolar change was observed in glomeruli and heart valves. In the brain, hippocampal and neocortical neurons and meningeal cells had lysosomal storage, and keratan sulfate and chondroitin-6-sulfate were more abundant in corneal epithelial cells of Galns -/- mice. Surprisingly, radiographs revealed no change in the skeletal bones of mice up to 12 months old. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14583446" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#55" class="mim-tip-reference" title="Tomatsu, S., Montano, A. M., Ohashi, A., Gutierrez, M. A., Oikawa, H, Oguma, T., Dung, V. C., Nishioka, T., Orii, T., Sly, W. S. &lt;strong&gt;Enzyme replacement therapy in a murine model of Morquio A syndrome.&lt;/strong&gt; Hum. Molec. Genet. 17: 815-824, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18056156/&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;18056156&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddm353&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="18056156">Tomatsu et al. (2008)</a> found that weekly treatment of MPS IVA mice for 12 weeks with enzyme replacement using native GALNS or SUMF1-modified GALNS resulted in clinical improvement, manifest by a marked reduction of storage material in visceral organs, bone marrow, heart valves, ligaments, and connective tissue. Pharmacokinetics and biodistribution were assessed and found to be similar for the 2 GALNS enzymes used. There was a dose-dependent clearance of storage material observed in brain, and blood keratan sulfate was reduced to nearly normal levels. The study provided proof of concept for enzyme replacement therapy in MPS IVA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18056156" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#55" class="mim-tip-reference" title="Tomatsu, S., Montano, A. M., Ohashi, A., Gutierrez, M. A., Oikawa, H, Oguma, T., Dung, V. C., Nishioka, T., Orii, T., Sly, W. S. &lt;strong&gt;Enzyme replacement therapy in a murine model of Morquio A syndrome.&lt;/strong&gt; Hum. Molec. Genet. 17: 815-824, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18056156/&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;18056156&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddm353&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="18056156">Tomatsu et al. (2008)</a> had noted lack of improvement in bone pathology in MPS IVA mice treated with long-term enzyme replacement therapy (ERT). <a href="#56" class="mim-tip-reference" title="Tomatsu, S., Montano, A. M., Oikawa, H., Dung, V. C., Hashimoto, A., Oguma, T., Gutierrez, M. L., Takahashi, T., Shimada, T., Orii, T., Sly, W. S. &lt;strong&gt;Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: early treatment rescues bone lesions?&lt;/strong&gt; Molec. Genet. Metab. 114: 195-202, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24953405/&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;24953405&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=24953405[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2014.05.013&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="24953405">Tomatsu et al. (2015)</a> administered recombinant enzymes to newborn mice: the first injection was administered intravenously, the second to fourth weekly injections were intraperitoneal, and the remaining injections from the fifth to fourteenth weeks were intravenous into the tail vein. MPS4A mice treated with GALNS showed clearance of lysosomal storage in liver, spleen, and sinus lining cells in bone marrow. The column structure of the growth plate was better organized than that in adult mice treated with ERT; however, hyaline and fibrous cartilage cells in femur, spine, ligaments, discs, synovium, and periosteum still had storage materials to some extent. Heart valves were refractory to treatment. Levels of serum keratan sulfate were kept normal in newborn ERT-treated mice. <a href="#56" class="mim-tip-reference" title="Tomatsu, S., Montano, A. M., Oikawa, H., Dung, V. C., Hashimoto, A., Oguma, T., Gutierrez, M. L., Takahashi, T., Shimada, T., Orii, T., Sly, W. S. &lt;strong&gt;Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: early treatment rescues bone lesions?&lt;/strong&gt; Molec. Genet. Metab. 114: 195-202, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24953405/&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;24953405&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=24953405[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2014.05.013&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="24953405">Tomatsu et al. (2015)</a> concluded that the enzyme, which enters the cartilage before the cartilage cell layer becomes mature, prevents disorganization of column structure. Early treatment from birth leads to partial remission of bone pathology in MPS IVA mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24953405+18056156" 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="#Blaw1969" class="mim-tip-reference" title="Blaw, M. E., Langer, L. O., Jr. &lt;strong&gt;Spinal cord compression in Morquio-Brailsford&#x27;s disease.&lt;/strong&gt; J. Pediat. 74: 593-600, 1969.">Blaw and Langer (1969)</a>; <a href="#Glossl1980" class="mim-tip-reference" title="Glossl, J., Lembeck, K., Gamse, G., Kresse, H. &lt;strong&gt;Morquio&#x27;s disease type A: absence of material cross reacting with antibodies against N-acetylgalactosamine-6-sulfate sulfatase.&lt;/strong&gt; Hum. Genet. 54: 87-91, 1980.">Glossl et al. (1980)</a>; <a href="#Langer1966" class="mim-tip-reference" title="Langer, L. O., Jr., Carey, L. S. &lt;strong&gt;The roentgenographic features of the KS mucopolysaccharidosis of Morquio (Morquio-Brailsford&#x27;s disease).&lt;/strong&gt; Am. J. Roentgen. Radium Ther. Nucl. Med. 97: 1-20, 1966.">Langer and Carey
(1966)</a>; <a href="#Linker1970" class="mim-tip-reference" title="Linker, A., Evans, L. R., Langer, L. O., Jr. &lt;strong&gt;Morquio&#x27;s disease and mucopolysaccharide excretion.&lt;/strong&gt; J. Pediat. 77: 1039-1047, 1970.">Linker et al. (1970)</a>; <a href="#Maroteaux1961" class="mim-tip-reference" title="Maroteaux, P., Lamy, M. &lt;strong&gt;Opacites corneennes et troubles metaboliques dans la maladie de Morquio.&lt;/strong&gt; Rev. Franc. Etud. Clin. Biol. 6: 481-483, 1961.">Maroteaux and Lamy (1961)</a>; <a href="#Maroteaux1982" class="mim-tip-reference" title="Maroteaux, P., Stanescu, V., Stanescu, R., Kresse, H., Hors-Cayla, M. C. &lt;strong&gt;Heterogeneite des formes frustes de la maladie de Morquio.&lt;/strong&gt; Arch. Franc. Pediat. 39: 761-765, 1982.">Maroteaux et
al. (1982)</a>; <a href="#Masuno1993" class="mim-tip-reference" title="Masuno, M., Tomatsu, S., Nakashima, Y., Hori, T., Fukuda, S., Masue, M., Sukegawa, K., Orii, T. &lt;strong&gt;Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24.&lt;/strong&gt; Genomics 16: 777-778, 1993.">Masuno et al. (1993)</a>; <a href="#McKusick1976" class="mim-tip-reference" title="McKusick, V. A. &lt;strong&gt;Osler as a medical geneticist.&lt;/strong&gt; Johns Hopkins Med. J. 139: 163-174, 1976.">McKusick (1976)</a>; <a href="#Pedrini1962" class="mim-tip-reference" title="Pedrini, V., Lennzi, L., Zamtotti, V. &lt;strong&gt;Isolation and identification of keratosulphate in urine of patients affected by Morquio-Ullrich disease.&lt;/strong&gt; Proc. Soc. Exp. Biol. Med. 110: 847-849, 1962.">Pedrini et al.
(1962)</a>; <a href="#Riedner1977" class="mim-tip-reference" title="Riedner, E. D., Levin, L. S. &lt;strong&gt;Hearing patterns in Morquio&#x27;s syndrome (mucopolysaccharidosis IV).&lt;/strong&gt; Arch. Otolaryng. 103: 518-520, 1977.">Riedner and Levin (1977)</a>; <a href="#Robins1963" class="mim-tip-reference" title="Robins, M. M., Stevens, H. F., Linker, A. &lt;strong&gt;Morquio&#x27;s disease: an abnormality of mucopolysaccharide metabolism.&lt;/strong&gt; J. Pediat. 62: 881-889, 1963.">Robins et al. (1963)</a>; <a href="#Singh1976" class="mim-tip-reference" title="Singh, J., Di Ferrante, N. M., Niebes, P., Tavella, D. &lt;strong&gt;N-acetylgalactosamine-6-sulfate sulfatase in man: absence of the enzyme in Morquio disease.&lt;/strong&gt; J. Clin. Invest. 57: 1036-1040, 1976.">Singh et al.
(1976)</a>; <a href="#Von1960" class="mim-tip-reference" title="Von Noorden, G. K., Zellweger, H., Ponseti, I. V. &lt;strong&gt;Ocular findings in Morquio-Ullrich&#x27;s disease.&lt;/strong&gt; Arch. Ophthal. 64: 585-591, 1960.">Von Noorden et al. (1960)</a>; <a href="#Yuen1985" class="mim-tip-reference" title="Yuen, M., Fensom, A. H. &lt;strong&gt;Diagnosis of classical Morquio&#x27;s disease: N-acetylgalactosamine 6-sulphate sulphatase activity in cultured fibroblasts, leukocytes, amniotic cells and chorionic villi.&lt;/strong&gt; J. Inherit. Metab. Dis. 8: 80-86, 1985.">Yuen and Fensom (1985)</a>; <a href="#Zellweger1961" class="mim-tip-reference" title="Zellweger, H., Ponseti, I. V., Pedrini, V., Stamler, F. S., Von Noorden, G. K. &lt;strong&gt;Morquio-Ullrich&#x27;s disease: report of 2 cases.&lt;/strong&gt; J. Pediat. 59: 549-561, 1961.">Zellweger
et al. (1961)</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="Beck1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Beck, M., Braun, S., Coerdt, W., Merz, E., Young, E., Sewell, A. C.
<strong>Fetal presentation of Morquio disease type A.</strong>
Prenatal Diag. 12: 1019-1029, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1287637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1287637</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1287637" 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/pd.1970121207" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Beck1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Beck, M., Glossl, J., Grubisic, A., Spranger, J.
<strong>Heterogeneity of Morquio disease.</strong>
Clin. Genet. 29: 325-331, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3087664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3087664</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3087664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1986.tb01262.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="3" class="mim-anchor"></a>
<a id="Bernal2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bernal, J. E., Briceno, I.
<strong>Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia-Ecuador.</strong>
Clin. Genet. 70: 188-191, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16922718/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16922718</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16922718" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2006.00670.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Blaw1969" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Blaw, M. E., Langer, L. O., Jr.
<strong>Spinal cord compression in Morquio-Brailsford's disease.</strong>
J. Pediat. 74: 593-600, 1969.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4237428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4237428</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4237428" 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(69)80043-0" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Borlot2014" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Borlot, F., Arantes, P. R., Quaio, C. R., Franco, J. F. S., Lourenco, C. M., Gomy, I., Bertola, D. R., Kim, C. A.
<strong>Mucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvement.</strong>
Am. J. Med. Genet. 164A: 1162-1169, 2014.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24478273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24478273</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24478273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.36424" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Brailsford1929" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Brailsford, J. F.
<strong>Chondro-osteo-dystrophy: roentgenographic and clinical features of child with dislocation of vertebrae.</strong>
Am. J. Surg. 7: 404-410, 1929.
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Bunge1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bunge, S., Kleijer, W. J., Tylki-Szymanska, A., Steglich, C., Beck, M., Tomatsu, S., Fukuda, S., Poorthuis, B. J. H. M., Czartoryska, B., Orii, T., Gal, A.
<strong>Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.</strong>
Hum. Mutat. 10: 223-232, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9298823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9298823</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9298823" 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/(SICI)1098-1004(1997)10:3&lt;223::AID-HUMU8&gt;3.0.CO;2-J" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Caciotti2015" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Caciotti, A., Tonin, R., Rigoldi, M., Ferri, L., Catarzi, S., Cavicchi, C., Procopio, E., Donati, M. A., Ficcadenti, A., Fiumara, A., Barone, R., Garavelli, L., and 16 others.
<strong>Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio--A syndrome-associated mutations.</strong>
Hum. Mutat. 36: 357-368, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25545067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25545067</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25545067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.22751" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Cahane1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cahane, M., Treister, G., Abraham, F. A., Melamed, S.
<strong>Glaucoma in siblings with Morquio syndrome.</strong>
Brit. J. Ophthal. 74: 382-383, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2116163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2116163</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2116163" 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.74.6.382" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Charrow2015" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Charrow, J., Alden, T. D., Breathnach, C. A. R., Frawley, G. P., Hendriksz, C. J., Link, B., Mackenzie, W. G., Manara, R., Offiah, A. C., Solano, M. L., Theroux, M.
<strong>Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome.</strong>
Molec. Genet. Metab. 114: 11-18, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25496828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25496828</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25496828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ymgme.2014.10.010" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Chudley2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chudley, A. E., Chakravorty, C.
<strong>Genetic landmarks through philately: Luis Morquio 1867-1935.</strong>
Clin. Genet. 62: 438-439, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12485190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12485190</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12485190" 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.1399-0004.2002.620603.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Danes1967" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Danes, B. S., Bearn, A. G.
<strong>Cellular metachromasia, a genetic marker for studying the mucopolysaccharidoses.</strong>
Lancet 289: 241-243, 1967. Note: Originally Volume 1.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4163146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4163146</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4163146" 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/s0140-6736(67)91302-5" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="Di Ferrante1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Di Ferrante, N. M., Ginsberg, L. C., Donnelly, P. V., Di Ferrante, D. T., Caskey, C. T.
<strong>Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses.</strong>
Science 199: 79-81, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17569489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17569489</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17569489" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1126/science.199.4324.79" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="Fujimoto1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fujimoto, A., Horwitz, A. L.
<strong>Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome.</strong>
Am. J. Med. Genet. 15: 265-273, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6224421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6224421</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6224421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320150210" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="15" class="mim-anchor"></a>
<a id="Fukuda1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fukuda, S., Tomatsu, S., Masuno, M., Ogawa, T., Yamagishi, A., Rezvi, G. M. M., Sukegawa, K., Shimozawa, N., Suzuki, Y., Kondo, N., Imaizumi, K., Kuroki, Y., Okabe, T., Orii, T.
<strong>Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.</strong>
Hum. Mutat. 7: 123-134, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8829629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8829629</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8829629" 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/(SICI)1098-1004(1996)7:2&lt;123::AID-HUMU6&gt;3.0.CO;2-D" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Gadbois1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gadbois, P., Moreau, J., Laberge, C.
<strong>La maladie de Morquio dans la province de Quebec.</strong>
Un. Med. Canada 102: 602-607, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4268299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4268299</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4268299" 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="17" class="mim-anchor"></a>
<a id="Glossl1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Glossl, J., Kresse, H., Mendla, K., Cantz, M., Rosenkranz, W.
<strong>Partial deficiency of glycoprotein neuraminidase in some patients with Morquio disease type A.</strong>
Pediat. Res. 18: 302-305, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6427747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6427747</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6427747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1203/00006450-198403000-00025" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="Glossl1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Glossl, J., Lembeck, K., Gamse, G., Kresse, H.
<strong>Morquio's disease type A: absence of material cross reacting with antibodies against N-acetylgalactosamine-6-sulfate sulfatase.</strong>
Hum. Genet. 54: 87-91, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6156114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6156114</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6156114" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00279054" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="19" class="mim-anchor"></a>
<a id="Greenberg1968" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Greenberg, A. D.
<strong>Atlantoaxial dislocations.</strong>
Brain 91: 655-684, 1968.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5704829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5704829</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5704829" 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/brain/91.4.655" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Guiney1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Guiney, W. B., Jr., Stevenson, R. E.
<strong>Morquio disease (MPS IV) with survival to age 67 years.</strong>
Proc. Greenwood Genet. Center 1: 84-87, 1982.
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="Harmatz2015" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Harmatz, P. R., Mengel, K. E., Giugliani, R., Valayannopoulos, V., Lin, S.-P., Parini, R., Guffon, N., Burton, B. K., Hendriksz, C. J., Mitchell, J. J., Martins, A. M., Jones, S. A., Guelbert, N., Vellodi, A., Wijburg, F. A., Yang, K., Slasor, P., Decker, C.
<strong>Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.</strong>
Molec. Genet. Metab. 114: 186-194, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25582974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25582974</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25582974" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ymgme.2014.10.015" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Hecht1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hecht, J. T., Scott, C. I., Jr., Smith, T. K., Williams, J. C.
<strong>Mild manifestations of the Morquio syndrome. (Letter)</strong>
Am. J. Med. Genet. 18: 369-371, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6431819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6431819</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6431819" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320180222" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="23" class="mim-anchor"></a>
<a id="Hendriksz2014" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hendriksz, C. J., Burton, B., Fleming, T. R., Harmatz, P., Hughes, D., Jones, S. A., Lin, S.-P., Mengel, E., Scarpa, M., Valayannopoulos, V., Giugliani, R., STRIVE Investigators, Slasor, P., Lounsbury, D., Dummer, W.
<strong>Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study.</strong>
J. Inherit. Metab. Dis. 37: 979-990, 2014.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24810369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24810369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24810369[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24810369" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s10545-014-9715-6" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Hendriksz2018" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hendriksz, C., Santra, S., Jones, S. A., Geberhiwot, T., Jesaitis, L., Long, B., Qi, Y., Hawley, S. M., Decker, C.
<strong>Safety, immunogenicity, and clinical outcomes in patients with Morquio A syndrome participating in 2 sequential open-label studies of elosulfase alfa enzyme replacement therapy (MOR-002/MOR-100), representing 5 years of treatment.</strong>
Molec. Genet. Metab. 123: 479-487, 2018.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29526614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29526614</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29526614" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ymgme.2018.02.011" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="25" class="mim-anchor"></a>
<a id="Holzgreve1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Holzgreve, W., Grobe, H., von Figura, K., Kresse, H., Beck, H., Mattei, J. F.
<strong>Morquio syndrome: clinical findings in 11 patients with MPS IVA and 2 patients with MPS IVB.</strong>
Hum. Genet. 57: 360-365, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6793501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6793501</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6793501" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00281685" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="26" class="mim-anchor"></a>
<a id="Hori1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hori, T., Tomatsu, S., Nakashima, Y., Uchiyama, A., Fukuda, S., Sukegawa, K., Shimozawa, N., Suzuki, Y., Kondo, N., Horiuchi, T., Ogura, S., Orii, T.
<strong>Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS).</strong>
Genomics 26: 535-542, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7607677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7607677</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7607677" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0888-7543(95)80172-i" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="27" class="mim-anchor"></a>
<a id="Hussels1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hussels, I.
<strong>Morquio syndrome in a woman with two normal children. In: Bergsma, D. (ed.): Skeletal Dysplasias.</strong>
Amsterdam: Excerpta Medica (pub.) 1974. Pp. 465-466.
</p>
</div>
</li>
<li>
<a id="28" class="mim-anchor"></a>
<a id="Khan2017" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Khan, S. A., Peracha, H., Ballhausen, D., Wiesbauer, A., Rohrbach, M., Gautschi, M., Mason, R. W., Giugliani, R., Suzuki, Y., Orii, K. E., Orii, T., Tomatsu, S.
<strong>Epidemiology of mucopolysaccharidoses.</strong>
Molec. Genet. Metab. 121: 227-240, 2017.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28595941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28595941</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28595941[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28595941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ymgme.2017.05.016" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="29" class="mim-anchor"></a>
<a id="Langer1966" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Langer, L. O., Jr., Carey, L. S.
<strong>The roentgenographic features of the KS mucopolysaccharidosis of Morquio (Morquio-Brailsford's disease).</strong>
Am. J. Roentgen. Radium Ther. Nucl. Med. 97: 1-20, 1966.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4223084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4223084</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4223084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.2214/ajr.97.1.1" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="30" class="mim-anchor"></a>
<a id="Levin1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Levin, L. S., Jorgenson, R. J., Salinas, C. F.
<strong>Oral findings in the Morquio syndrome (mucopolysaccharidosis IV).</strong>
Oral Surg. Oral Med. Oral Path. 39: 390-395, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/803669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">803669</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=803669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0030-4220(75)90082-1" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="31" class="mim-anchor"></a>
<a id="Linker1970" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Linker, A., Evans, L. R., Langer, L. O., Jr.
<strong>Morquio's disease and mucopolysaccharide excretion.</strong>
J. Pediat. 77: 1039-1047, 1970.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4249678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4249678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4249678" 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(70)80089-0" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="32" class="mim-anchor"></a>
<a id="Lowry1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lowry, R. B., Applegarth, D. A., Toone, J. R., MacDonald, E., Thunem, N. Y.
<strong>An update on the frequency of mucopolysaccharide syndromes in British Columbia.</strong>
Hum. Genet. 85: 389-390, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2118475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2118475</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2118475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00206770" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="33" class="mim-anchor"></a>
<a id="Maroteaux1961" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Maroteaux, P., Lamy, M.
<strong>Opacites corneennes et troubles metaboliques dans la maladie de Morquio.</strong>
Rev. Franc. Etud. Clin. Biol. 6: 481-483, 1961.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13767047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13767047</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13767047" 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="34" class="mim-anchor"></a>
<a id="Maroteaux1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Maroteaux, P., Stanescu, V., Stanescu, R., Kresse, H., Hors-Cayla, M. C.
<strong>Heterogeneite des formes frustes de la maladie de Morquio.</strong>
Arch. Franc. Pediat. 39: 761-765, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6219649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6219649</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6219649" 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="35" class="mim-anchor"></a>
<a id="Masuno1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Masuno, M., Tomatsu, S., Nakashima, Y., Hori, T., Fukuda, S., Masue, M., Sukegawa, K., Orii, T.
<strong>Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24.</strong>
Genomics 16: 777-778, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8325655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8325655</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8325655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/geno.1993.1266" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="36" class="mim-anchor"></a>
<a id="Matalon1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Matalon, R., Arbogast, B., Dorfman, A.
<strong>Morquio's syndrome: a deficiency of chondroitin sulfate N-acetylhexosamine sulfate sulfatase. (Abstract)</strong>
Pediat. Res. 8: 436, 1974.
</p>
</div>
</li>
<li>
<a id="37" class="mim-anchor"></a>
<a id="McKusick1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
McKusick, V. A.
<strong>Heritable Disorders of Connective Tissue. (4th ed.)</strong>
St. Louis: C. V. Mosby (pub.) 1972.
</p>
</div>
</li>
<li>
<a id="38" class="mim-anchor"></a>
<a id="McKusick1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
McKusick, V. A.
<strong>Osler as a medical geneticist.</strong>
Johns Hopkins Med. J. 139: 163-174, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/824491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">824491</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=824491" 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="39" class="mim-anchor"></a>
<a id="Montano2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Montano, A. M., Tomatsu, S., Brusius, A., Smith, M., Orii, T.
<strong>Growth charts for patients affected with Morquio A disease.</strong>
Am. J. Med. Genet. 146A: 1286-1295, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18412124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18412124</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18412124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.32281" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="40" class="mim-anchor"></a>
<a id="Morquio1929" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Morquio, L.
<strong>Sur une forme de dystrophie osseuse familiale.</strong>
Bull. Soc. Pediat. Paris 27: 145-152, 1929.
</p>
</div>
</li>
<li>
<a id="41" class="mim-anchor"></a>
<a id="Nelson1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Nelson, J., Broadhead, D., Mossman, J.
<strong>Clinical findings in 12 patients with MPS IV A (Morquio's disease): further evidence for heterogeneity. Part I: clinical and biochemical findings.</strong>
Clin. Genet. 33: 111-120, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3129221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3129221</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3129221" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1988.tb03421.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="42" class="mim-anchor"></a>
<a id="Nelson2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Nelson, J., Crowhurst, J., Carey, B., Greed, L.
<strong>Incidence of the mucopolysaccharidoses in western Australia.</strong>
Am. J. Med. Genet. 123A: 310-313, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14608657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14608657</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14608657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.20314" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="43" class="mim-anchor"></a>
<a id="Nelson1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Nelson, J., Kinirons, M.
<strong>Clinical findings in 12 patients with MPS IV A (Morquio's disease): further evidence for heterogeneity. Part II: dental findings.</strong>
Clin. Genet. 33: 121-125, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3129222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3129222</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3129222" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1988.tb03422.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="44" class="mim-anchor"></a>
<a id="Nelson1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Nelson, J., Thomas, P. S.
<strong>Clinical findings in 12 patients with MPS IV A (Morquio's disease): further evidence for heterogeneity. Part III: odontoid dysplasia.</strong>
Clin. Genet. 33: 126-130, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3129223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3129223</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3129223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1988.tb03423.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="45" class="mim-anchor"></a>
<a id="Osler1897" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Osler, W.
<strong>Sporadic cretinism in America.</strong>
Am. J. Med. Sci. 114: 377-401, 1897.
</p>
</div>
</li>
<li>
<a id="46" class="mim-anchor"></a>
<a id="Pedrini1962" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pedrini, V., Lennzi, L., Zamtotti, V.
<strong>Isolation and identification of keratosulphate in urine of patients affected by Morquio-Ullrich disease.</strong>
Proc. Soc. Exp. Biol. Med. 110: 847-849, 1962.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14484871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14484871</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14484871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.3181/00379727-110-27668" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="47" class="mim-anchor"></a>
<a id="Riedner1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Riedner, E. D., Levin, L. S.
<strong>Hearing patterns in Morquio's syndrome (mucopolysaccharidosis IV).</strong>
Arch. Otolaryng. 103: 518-520, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/409383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">409383</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=409383" 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/archotol.1977.00780260048003" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="48" class="mim-anchor"></a>
<a id="Robins1963" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Robins, M. M., Stevens, H. F., Linker, A.
<strong>Morquio's disease: an abnormality of mucopolysaccharide metabolism.</strong>
J. Pediat. 62: 881-889, 1963.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13974412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13974412</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13974412" 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(63)80102-x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="49" class="mim-anchor"></a>
<a id="Singh1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Singh, J., Di Ferrante, N. M., Niebes, P., Tavella, D.
<strong>N-acetylgalactosamine-6-sulfate sulfatase in man: absence of the enzyme in Morquio disease.</strong>
J. Clin. Invest. 57: 1036-1040, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/820716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">820716</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=820716" 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/JCI108345" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="50" class="mim-anchor"></a>
<a id="Sukegawa2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sukegawa, K., Nakamura, H., Kato, Z., Tomatsu, S., Montano, A. M., Fukao, T., Toietta, G., Tortora, P., Orii, T., Kondo, N.
<strong>Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.</strong>
Hum. Molec. Genet. 9: 1283-1290, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10814710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10814710</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10814710" 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/9.9.1283" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="51" class="mim-anchor"></a>
<a id="Tomatsu1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tomatsu, S., Fukuda, S., Cooper, A., Wraith, J. E., Ferreira, P., Di Natale, P., Tortora, P., Fujimoto, A., Kato, Z., Yamada, N., Isogai, K., Yamagishi, A., Sukegawa, K., Suzuki, Y., Shimozawa, N., Kondo, N., Sly, W. S., Orii, T.
<strong>Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.</strong>
Hum. Mutat. 10: 368-375, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9375852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9375852</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9375852" 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/(SICI)1098-1004(1997)10:5&lt;368::AID-HUMU6&gt;3.0.CO;2-B" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="52" class="mim-anchor"></a>
<a id="Tomatsu1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tomatsu, S., Fukuda, S., Masue, M., Sukegawa, K., Masuno, M., Orii, T.
<strong>Mucopolysaccharidosis type IVA: characterization and chromosomal localization of N-acetylgalactosamine-6-sulfate sulfatase gene and genetic heterogeneity. (Abstract)</strong>
Am. J. Hum. Genet. 51 (suppl.): A178, 1992.
</p>
</div>
</li>
<li>
<a id="53" class="mim-anchor"></a>
<a id="Tomatsu1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tomatsu, S., Fukuda, S., Yamagishi, A., Cooper, A., Wraith, J. E., Hori, T., Kato, Z., Yamada, N., Isogai, K., Sukegawa, K., Kondo, N., Suzuki, Y., Shimozawa, N., Orii, T.
<strong>Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.</strong>
Am. J. Hum. Genet. 58: 950-962, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651279</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8651279" 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="54" class="mim-anchor"></a>
<a id="Tomatsu2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tomatsu, S., Montano, A. M., Nishioka, T., Gutierrez, M. A., Pena, O. M., Trandafirescu, G. G., Lopez, P., Yamaguchi, S., Noguchi, A., Orii, T.
<strong>Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).</strong>
Hum. Mutat. 26: 500-512, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16287098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16287098</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16287098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.20257" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="55" class="mim-anchor"></a>
<a id="Tomatsu2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tomatsu, S., Montano, A. M., Ohashi, A., Gutierrez, M. A., Oikawa, H, Oguma, T., Dung, V. C., Nishioka, T., Orii, T., Sly, W. S.
<strong>Enzyme replacement therapy in a murine model of Morquio A syndrome.</strong>
Hum. Molec. Genet. 17: 815-824, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18056156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18056156</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18056156" 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/ddm353" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="56" class="mim-anchor"></a>
<a id="Tomatsu2015" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tomatsu, S., Montano, A. M., Oikawa, H., Dung, V. C., Hashimoto, A., Oguma, T., Gutierrez, M. L., Takahashi, T., Shimada, T., Orii, T., Sly, W. S.
<strong>Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: early treatment rescues bone lesions?</strong>
Molec. Genet. Metab. 114: 195-202, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24953405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24953405</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24953405[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24953405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ymgme.2014.05.013" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="57" class="mim-anchor"></a>
<a id="Tomatsu2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tomatsu, S., Orii, K. O., Vogler, C., Nakayama, J., Levy, B., Grubb, J. H., Gutierrez, M. A., Shim, S., Yamaguchi, S., Nishioka, T., Montano, A. M., Noguchi, A., Orii, T., Kondo, N., Sly, W. S.
<strong>Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease.</strong>
Hum. Molec. Genet. 12: 3349-3358, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14583446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14583446</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14583446" 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/ddg366" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="58" class="mim-anchor"></a>
<a id="Von Noorden1960" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Von Noorden, G. K., Zellweger, H., Ponseti, I. V.
<strong>Ocular findings in Morquio-Ullrich's disease.</strong>
Arch. Ophthal. 64: 585-591, 1960.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13782074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13782074</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13782074" 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/archopht.1960.01840010587017" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="59" class="mim-anchor"></a>
<a id="Wang1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wang, L., Ou, X., Sebesta, I., Vondrak, K., Krijt, J., Elleder, M., Poupetova, H., Ledvinova, J., Zeman, J., Simmonds, H. A., Tischfield, J. A., Sahota, A.
<strong>Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.</strong>
Molec. Genet. Metab. 68: 78-85, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10479485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10479485</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10479485" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/mgme.1999.2893" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="60" class="mim-anchor"></a>
<a id="Wang2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wang, Z., Zhang, W., Wang, Y., Meng, Y., Su, L., Shi, H., Huang, S.
<strong>Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.</strong>
J. Hum. Genet. 55: 534-540, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20574428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20574428</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20574428" 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/jhg.2010.65" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="61" class="mim-anchor"></a>
<a id="Wiedemann1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wiedemann, H.-R.
<strong>The pioneers of pediatric medicine: Luis Morquio (1867-1935).</strong>
Europ. J. Pediat. 151: 549, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1505567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1505567</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1505567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF01957716" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="62" class="mim-anchor"></a>
<a id="Yuen1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yuen, M., Fensom, A. H.
<strong>Diagnosis of classical Morquio's disease: N-acetylgalactosamine 6-sulphate sulphatase activity in cultured fibroblasts, leukocytes, amniotic cells and chorionic villi.</strong>
J. Inherit. Metab. Dis. 8: 80-86, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3939537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3939537</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3939537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF01801671" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="63" class="mim-anchor"></a>
<a id="Zellweger1961" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zellweger, H., Ponseti, I. V., Pedrini, V., Stamler, F. S., Von Noorden, G. K.
<strong>Morquio-Ullrich's disease: report of 2 cases.</strong>
J. Pediat. 59: 549-561, 1961.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14010093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14010093</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14010093" 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(61)80239-4" target="_blank">Full Text</a>]
</p>
</div>
</li>
</ol>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="contributors" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="mim-text-font">
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Hilary J. Vernon - updated : 04/30/2020
</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">
Ada Hamosh - updated : 05/29/2018<br>Ada Hamosh - updated : 9/28/2015<br>Cassandra L. Kniffin - updated : 5/13/2015<br>Ada Hamosh - updated : 2/26/2015<br>Ada Hamosh - updated : 2/25/2015<br>Cassandra L. Kniffin - updated : 11/1/2010<br>Cassandra L. Kniffin - updated : 10/9/2009<br>Cassandra L. Kniffin - reorganized : 8/27/2008<br>Marla J. F. O'Neill - updated : 11/13/2006<br>George E. Tiller - updated : 1/31/2006<br>Victor A. McKusick - updated : 1/6/2006<br>Victor A. McKusick - updated : 11/9/2004<br>Victor A. McKusick - updated : 1/5/2004<br>Victor A. McKusick - updated : 7/9/2003<br>Victor A. McKusick - updated : 12/26/2002<br>George E. Tiller - updated : 6/29/2000<br>Victor A. McKusick - updated : 1/6/2000<br>Victor A. McKusick - updated : 6/12/1998<br>Victor A. McKusick - updated : 4/30/1998<br>Victor A. McKusick - updated : 11/26/1997<br>Victor A. McKusick - updated : 10/10/1997
</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 : 6/4/1986
</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 : 06/17/2022
</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">
carol : 03/02/2022<br>carol : 04/30/2020<br>carol : 05/31/2018<br>carol : 05/30/2018<br>alopez : 05/29/2018<br>carol : 07/09/2016<br>alopez : 9/28/2015<br>carol : 5/15/2015<br>mcolton : 5/13/2015<br>ckniffin : 5/13/2015<br>mcolton : 3/4/2015<br>alopez : 2/26/2015<br>alopez : 2/25/2015<br>alopez : 2/25/2015<br>alopez : 2/25/2015<br>carol : 2/12/2014<br>mcolton : 2/12/2014<br>wwang : 1/10/2011<br>wwang : 12/9/2010<br>wwang : 12/8/2010<br>ckniffin : 11/1/2010<br>wwang : 11/25/2009<br>ckniffin : 10/9/2009<br>terry : 5/4/2009<br>carol : 8/27/2008<br>ckniffin : 8/22/2008<br>carol : 10/23/2007<br>wwang : 11/13/2006<br>wwang : 1/31/2006<br>wwang : 1/12/2006<br>terry : 1/6/2006<br>terry : 6/9/2005<br>tkritzer : 11/10/2004<br>terry : 11/9/2004<br>alopez : 3/17/2004<br>ckniffin : 3/12/2004<br>carol : 1/14/2004<br>cwells : 1/5/2004<br>cwells : 11/10/2003<br>carol : 7/18/2003<br>terry : 7/9/2003<br>ckniffin : 2/28/2003<br>carol : 1/2/2003<br>tkritzer : 12/27/2002<br>terry : 12/26/2002<br>joanna : 3/28/2001<br>terry : 10/6/2000<br>alopez : 6/29/2000<br>mgross : 1/11/2000<br>terry : 1/6/2000<br>carol : 5/19/1999<br>carol : 6/15/1998<br>terry : 6/15/1998<br>terry : 6/12/1998<br>joanna : 5/14/1998<br>carol : 4/30/1998<br>terry : 4/6/1998<br>alopez : 12/3/1997<br>alopez : 12/3/1997<br>dholmes : 12/1/1997<br>jenny : 10/21/1997<br>jenny : 10/17/1997<br>terry : 10/10/1997<br>alopez : 7/10/1997<br>carol : 6/20/1997<br>mark : 5/3/1996<br>terry : 4/29/1996<br>mimman : 2/8/1996<br>mark : 10/2/1995<br>carol : 9/12/1994<br>davew : 7/25/1994<br>terry : 6/15/1994<br>mimadm : 4/18/1994<br>warfield : 4/15/1994
</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> 253000
</span>
</h3>
</div>
<div>
<h3>
<span class="mim-font">
MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A
</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">
MORQUIO SYNDROME A<br />
MPS IVA<br />
MORQUIO A DISEASE<br />
GALACTOSAMINE-6-SULFATASE DEFICIENCY<br />
GALNS DEFICIENCY
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<p>
<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 130197005, 7259005; &nbsp;
<strong>ICD10CM:</strong> E76.210; &nbsp;
<strong>ORPHA:</strong> 309297, 582; &nbsp;
<strong>DO:</strong> 0111391; &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">
16q24.3
</span>
</td>
<td>
<span class="mim-font">
Mucopolysaccharidosis IVA
</span>
</td>
<td>
<span class="mim-font">
253000
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
GALNS
</span>
</td>
<td>
<span class="mim-font">
612222
</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 mucopolysaccharidosis type IVA (MPS4A; Morquio syndrome A) is caused by homozygous or compound heterozygous mutation in the GALNS gene (612222), which encodes galactosamine-6-sulfate sulfatase, on chromosome 16q24.</p><p>See MPS IVB (MPS4B; 253010), also known as Morquio syndrome B, a genetically distinct disorder with overlapping clinical features caused by mutation in the beta-galactosidase gene (GLB1; 611458) on chromosome 3p22.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Mucopolysaccharidosis type IVA is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system (CNS) involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life (Montano et al., 2008). </p><p>McKusick (1972) noted that between 1929 and 1959, a miscellany of skeletal disorders was included in the Morquio category, including various types of spondyloepiphyseal dysplasia (see, e.g., 183900) and multiple epiphyseal dysplasia (see, e.g., 132400).</p><p>Nelson et al. (1988) proposed the division of MPS IVA into 3 subgroups: severe classic, intermediate, and mild, reflecting clinical variability observed in 12 enzymatically proven cases. Those who were only mildly affected showed a relatively high residual enzyme activity. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The first cases of Morquio syndrome were likely reported in a French Canadian brother and sister by Osler (1897) as cases of achondroplasia (ACH; 100800) (see McKusick, 1972, p 583, fig 11-23).</p><p>Morquio (1929) in Montevideo, Uruguay, and Brailsford (1929) in Birmingham, England, simultaneously and independently described the entity now known to result from a deficiency of galactosamine-6-sulfatase. Morquio (1929) observed the disorder in 4 sibs in a family of Swedish extraction. Notable features included osseous dystrophy, corneal clouding, aortic valve disease, and urinary excretion of keratosulfate.</p><p>Greenberg (1968) noted that the dangerous complications of atlantoaxial dislocation due to hypoplasia of the odontoid can occur in Morquio disease and in various forms of spondyloepiphyseal dysplasia. </p><p>Gadbois et al. (1973) identified 48 patients from 27 families with Morquio syndrome in the province of Quebec. Total urinary excretion of keratan sulfate was increased 2 to 3 times that of normal, while urinary excretion of total mucopolysaccharide was within normal limits. </p><p>Hussels (1974) described an affected woman who had 2 normal children. Her brother was also affected.</p><p>Guiney and Stevenson (1982) described a woman with documented Morquio syndrome due to deficiency of N-acetylgalactosamine-6-sulfate sulfatase who survived to the age of 67 years. After suffering for several days from episodes of unexplained and episodic apnea, she was found dead in bed.</p><p>Hecht et al. (1984) reported a 14-year-old boy with a very mild form of Morquio syndrome who presented as having nonresolving bilateral Legg-Perthes disease. He had short stature (15th percentile for height) and a short trunk, but did not have pectus carinatum, genu valgum, excessive joint laxity, corneal clouding, or facial changes. Radiographic studies showed mild platyspondyly, anterior wedging of the first lumbar vertebra, and minimal odontoid hypoplasia, as well as abnormal capital femoral epiphyses. N-acetylgalactosamine-6-sulfate sulfatase activity was undetectable in leukocytes and low in fibroblasts. Urine keratan sulfate was increased at 22.9 mg/total volume (normal less than 2 mg/total volume). Together with the cases of Fujimoto and Horwitz (1983) and 2 cases of Holzgreve et al. (1981), this experience suggested the existence of a mild form of MPS IVA. </p><p>Beck et al. (1986) suggested that there are severe, intermediate, and mild forms of N-acetylgalactosamine-6-sulfate (GalNAc-6-S) sulfatase deficiency. They described a 30-year-old man who was 156 cm tall and had severe hip disease, fine corneal deposits by slit-lamp, and a wedge-shaped first lumbar vertebra. Although there was no increase in urinary keratosulfate, GALNS activity was markedly decreased in fibroblasts. The authors noted the similarities to so-called 'nonkeratosulfate-excreting Morquio syndrome' (252300), which may be a variant of Morquio A. </p><p>In all of 12 patients with MPS IVA, Nelson and Thomas (1988) found odontoid dysplasia in the absence or presence of atlanto-axial instability. In general, the findings correlated well with the overall clinical severity of the condition. The authors emphasized the importance of careful follow-up of these patients for symptoms or signs of cervical cord compression. Proven compromise of the upper cervical cord would be an indication for posterior fusion of the upper cervical spine. </p><p>Montano et al. (2008) developed growth curves based on data from 354 patients with Morquio A disease. The mean birth lengths of boys and girls were 52.6 and 52.1 cm, respectively. The mean final heights for males and females at 18 years and older were 122.4 and 113.1 cm, respectively, which corresponded to -7.4 SD for males and -7.7 SD for females compared to controls. The mean body mass index for males and females at or over 18 years of age was 24.7 and 25.6 kg/m(2), respectively. The growth pattern in Morquio A patients was characterized by impaired growth velocity after 1 year of age. </p><p>Harmatz et al. (2015) performed a longitudinal analysis of endurance and respiratory function from a natural history study of patients with Morquio A syndrome. The authors used a 6-minute walk test and a 3-minute stair climb test as well as measuring respiratory evaluation by forced vital capacity (FVC) and maximum voluntary ventilation (MVV). At year 0 (baseline), 353 subjects were assessed; at year 1, 184; and at year 2, 78. The overall annualized estimate of change in the 6-minute walk test distance was -4.86 +/- 3.25 m. In contrast, little change (-0.14 +/- 0.60 stairs/min) was observed in the 3-minute stair climb test. Annualized changes in FVC and MVV were 2.44 +/- 0.68% and 1.01 +/- 2.38%, respectively. FVC and MVV increased in patients less than 14 years of age, but decreased in older patients. </p><p>Caciotti et al. (2015) reported the clinical data, biochemical assays, molecular analyses, and in silico structural analyses of mutations in 37 MPS IVA patients. Thirty-one patients had the severe phenotype, 3 were intermediate, and 3 were mild. The phenotypic features of the patients were reported in the supplemental material for this paper. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Biochemical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Matalon et al. (1974) concluded that the enzyme deficiency in Morquio disease involves 6-sulfatase, which catalyzes both keratan sulfate and chondroitin sulfate. Di Ferrante et al. (1978) further suggested that the defect concerns galactosamine-6-sulfate sulfatase. </p><p>Glossl et al. (1984) found that fibroblasts from some cases of MPS IVA also showed a deficiency of neuraminidase (NEU1; 608272) in addition to the expected deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Residual neuraminidase activity was about 5% of normal, whereas GalNAc-6-S sulfatase activity was less than 1%. Neuraminidase was normal in peripheral leukocytes. Somatic cell hybridization of the patient's fibroblasts with those of another patient with MPS IVA did not correct the sulfatase deficiency, but fusion with sialidosis fibroblasts produced an increase in neuraminidase levels. Restudy of 10 different MPS IVA cell lines showed low neuraminidase in 2 and low normal in 6. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Other Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Levin et al. (1975) described the classic oral abnormalities found among 12 patients with Morquio A syndrome. The maxillary anterior teeth were widely spaced and flared, and the posterior teeth were tapered with pointed cusp tips. The enamel was of normal hardness, but some patients had pitted enamel with decreased thickness. The hard palate was broad and flat. </p><p>Nelson and Kinirons (1988) found typical dental changes in all of 12 patients with the disorder, although the changes were of variable degree. The dental changes were found only in MPS IVA and not in MPS IVB. </p><p>Cahane et al. (1990) reported a brother and sister in their thirties with Morquio syndrome who developed glaucoma, a complication observed in other forms of mucopolysaccharidosis and mucolipidosis. </p><p>Borlot et al. (2014) specifically assessed the CNS involvement in 9 Brazilian patients with MPS IVA confirmed by biochemical analysis. The patients ranged in age from 5 to 26 years. All had motor weakness, and 6 had impaired deep sensation. Cognition was normal in all but 1, who had delayed development at age 5. In 7 patients, brain and spinal cord imaging showed variable abnormalities, including clival hypoplasia, basilar invagination, and arachnoid cysts. All patients had odontoid hypoplasia and degenerative features of the neuroaxis, and 8 had spinal cord compression. Borlot et al. (2014) recommended thorough neurologic examination and imaging of all patients with MPS IVA. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In fibroblasts isolated from affected members of 6 families with Morquio syndrome, Danes and Bearn (1967) found no evidence for metachromasia. In contrast, fibroblasts isolated from patients with other forms of mucopolysaccharidosis did show metachromasia. Danes and Bearn (1967) noted that classic Morquio syndrome involves only the skeletal system and postulated that had tissue from the cornea, cartilage, or growing bone been examined, metachromasia may have been present. Based on the findings, the authors suggested that Morquio syndrome should not be classified as a generalized mucopolysaccharidosis. </p><p>Nelson et al. (1988) found that examination of urinary glycosaminoglycans by a 2-dimensional electrophoresis technique was a reliable and efficient diagnostic assay with no false-negative results. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
Beck et al. (1992) made the diagnosis of MPS IVA in a fetus at 23 weeks of gestation. A previously born child was affected. Ultrasound showed moderate ascites, and keratan sulfate was found in the amniotic fluid. The diagnosis was confirmed after pregnancy termination. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Management</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Hendriksz et al. (2014) reported the outcome of a phase 3 randomized placebo-controlled study of elosulfase alfa administered to 176 patients over the age of 5 years with Morquio A syndrome. These patients were randomized (1:1:1) to receive elosulfase alfa 2.0 mg/kg every other week, elosulfase alfa 2.0 mg/kg/week, or placebo for 24 weeks. The primary efficacy measure was a 6-minute walk test distance. Secondary efficacy measures were a 3-minute stair climb test, followed by changes in urine keratan sulfate. Hendriksz et al. (2014) found that elosulfase alfa improved endurance as measured by the 6-minute walk test in the weekly, but not in the every-other-week, dose group; it did not improve endurance on the 3-minute stair climb test, but it did reduce urine keratan sulfate and had an acceptable safety profile. </p><p>Charrow et al. (2015) reviewed consensus recommendations for diagnostic evaluation, monitoring, and perioperative management of spinal cord compression that were developed by a multinational, multidisciplinary panel of experts to assess patients with Morquio syndrome. </p><p>Hendriksz et al. (2018) reported the outcome of 2 sequential open label studies on treatment with elosulfase alfa in patients with Morquio A syndrome. The first study involved escalating doses of elosulfase alfa of 0.1, 1.0, and 2.0 mg/kg/week in 20 patients, followed by a long-term extension study of 2.0 mg/kg/week in 17 of the first-study participants. Hendriksz et al. (2018) found that urinary keratin sulfate decreased concurrently with increasing doses of elosulfase alfa. Disease stabilization was suggested, as study participants did not seem to have the progressive clinical deterioration that would be expected in an untreated natural history population. Antidrug antibodies were identified in all patients, but this was not associated with changes in clinical parameters, urine keratin sulfate content, or adverse events. There was a favorable safety profile over the 5 years of the studies. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In patients with MPS IVA, Tomatsu et al. (1992) identified 4 different mutations in the GALNS gene (612222.0001-612222.0004).</p><p>In 5 unrelated Japanese patients with MPS IVA, Hori et al. (1995) found, in heteroallelic state, 2 separate deletions of nearly 8.0 and 6.0 kb in the GALNS gene. There were Alu repetitive elements near the breakpoints of the 8.0-kb deletion; this deletion had clearly resulted from an Alu-Alu recombination. The 6.0-kb deletion involved illegitimate recombinational events between incomplete short direct repeats of 8 bp at the deletion breakpoints. This was the first documentation of a frequently occurring double deletion in a gene that is not a member of a gene cluster. One of the patients was homozygous for the double deletion, and the others were heterozygous. In the 4 heterozygous patients, Tomatsu et al. (1996) identified novel mutations in the GALNS gene on the other allele: 1 nonsense and 3 missense. </p><p>Bunge et al. (1997) performed mutation analysis of the GALNS gene in 35 patients with MPS IVA from 33 families, mainly of European origin. By nonradioactive SSCP screening, they identified 35 different gene mutations, 31 of them novel. Together they accounted for 88.6% of the disease alleles of the patients investigated. The great majority of the gene alterations proved to be point mutations, 23 missense, 2 nonsense, and 3 affecting splicing. Six small deletions (1 to 27 bp) and 1 insertion were also characterized. In a Polish family, 2 mildly affected sibs were compound heterozygous for 2 mutations in the GALNS gene: R94G (612222.0008) and R259Q (612222.0009). Their mother, who was homozygous for the R259Q mutation, was found to have greatly reduced enzymatic activity, but only limited manifestations of MPS IVA: short trunk with slight prominence of sternum, and hoarse voice. She had no corneal clouding and was 1.60 m tall. </p><p>Analyzing DNA from 21 patients of diverse ethnic and geographic origins by SSCP and sequencing, Tomatsu et al. (1997) detected 16 mutations in the GALNS gene, including 14 new mutations (11 missense, 1 premature termination, 1 splice site alteration, and 1 cryptic site alteration). All 12 missense and nonsense mutations were shown by transient expression to abolish or greatly reduce GALNS activity, thereby providing an explanation as to why they produce MPS IVA. All mutations were readily confirmed by restriction enzyme or allele-specific oligonucleotide analysis. These findings, coupled with previously reported mutations, brought the total of different mutations to 41 among independent families with Morquio syndrome. </p><p>Tomatsu et al. (2005) summarized information on 148 unique mutations in the GALNS gene, including 26 novel mutations. Heterogeneity in GALNS mutations accounted for an extensive clinical variability within MPS IVA. They noted that 7 nonsynonymous SNPs and 9 synonymous SNPs had been described. Of the analyzed mutant alleles, missense mutations accounted for 78.4%; small deletions, 9.2%; nonsense mutations, 5.0%; large deletions, 2.4%; and insertions, 1.6%. Transitional mutations at CpG dinucleotides accounted for 26.4% of all the described mutations. Three missense mutations accounted for over 5% of all mutations: R386C (612222.0003), G301C (612222.0010), and I113F (612222.0005). </p><p>Caciotti et al. (2015) studied 37 Italian MPS IVA patients and found that standard sequencing procedures failed to characterize the second disease-causing mutation in 16% of patients. Searching for large rearrangements and mRNA defects in this 16% identified splicing defects or large deletions on the other allele in 67% of these. Caciotti et al. (2015) reported 14 novel mutations in GALNS among the 37 patients. </p><p><strong><em>Morquio Syndrome and APRT Deficiency</em></strong></p><p>
Wang et al. (1999) described a Czech patient with Morquio syndrome and adenine phosphoribosyltransferase (APRT; 102600) deficiency with subsequent 2,8-dihydroxyadenine urolithiasis, both of which were caused by a 100-kb deletion on chromosome 16q24.3 with breakpoints in intron 2 of the GALNS gene and intron 2 of the APRT gene. Fukuda et al. (1996) described a Japanese patient with a submicroscopic deletion involving GALNS and APRT in one chromosome and a point mutation in the other GALNS allele (R386C; 612222.0003). Wang et al. (1999) concluded that APRT is located telomeric to GALNS on 16q24.3, that GALNS and APRT are transcribed in the same orientation (centromeric to telomeric), and that combined APRT/GALNS deficiency may be more common than hitherto realized. </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>Sukegawa et al. (2000) studied 15 missense mutations and 2 newly engineered active site mutations (C79S, C79T) in the GALNS gene by transient expression analysis. Mutant proteins, except for C79S and C79T, were destabilized and detected as insoluble precursor forms, while the C79S and C79T mutants were of a soluble mature size. Mutations identified in patients with the severe phenotype had no activity, whereas mutations identified in patients with the mild phenotype had a considerable residual activity (1.3-13.3% of wildtype GALNS activity). Sukegawa et al. (2000) also constructed a tertiary structural model of human GALNS from the x-ray crystal structure of homologous sulfatases and investigated 32 missense mutations. The authors proposed 3 different biochemical models for the severe phenotype: (i) destruction of the hydrophobic core or modification of the packing; (ii) removal of a salt bridge to destabilize the entire conformation; (iii) modification of the active site. In contrast, mild mutations were mostly located on the surface of the GALNS protein. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In British Columbia, between 1952 and 1986, 6 cases of MPS IVA were observed, yielding a frequency of 1 in 216,412 live births (Lowry et al., 1990). </p><p>Using multiple ascertainment sources, Nelson et al. (2003) obtained an incidence rate for MPS IVA in western Australia for the period 1969 to 1996 of approximately 1 in 640,000 live births. </p><p>Wang et al. (2010) identified 27 GALNS mutations, including 16 novel mutations, among 24 Chinese patients with MPS IVA. Approximately 63% of the mutations found in the Chinese patients were not observed in other countries, suggesting that a different mutational spectrum may exist in the Chinese population. The most common mutation G340D (612222.0018) was present in 8 (16.7%) of 48 mutant alleles and was found only in 5 patients from central eastern China. Haplotype analysis indicated a founder effect. </p><p>Caciotti et al. (2015) reported a population incidence for MPS IVA of about 1 in 300,000 live births in Italy. </p><p>Khan et al. (2017) analyzed the epidemiology of the mucopolysaccharidoses in Japan and Switzerland and compared them to similar data from other countries. Data for Japan was collected between 1982 and 2009, and 467 cases with MPS were identified. The combined birth prevalence was 1.53 per 100,000 live births. The highest birth prevalence was 0.84 for MPS II (309900), accounting for 55% of all MPS. MPS I (see 607014), III (see 252900), and IV accounted for 15%, 16%, and 10%, respectively. MPS VI (253200) and VII (253220) were more rare and accounted for 1.7% and 1.3%, respectively. A retrospective epidemiologic data collection was performed in Switzerland between 1975 and 2008 (34 years), and 41 living MPS patients were identified. The combined birth prevalence was 1.56 per 100,000 live births. The highest birth prevalence was 0.46 for MPS II, accounting for 29% of all MPS. MPS I, III, and IV accounted for 12%, 24%, and 24%, respectively. As seen in the Japanese population, MPS VI and VII were more rare and accounted for 7.3% and 2.4%, respectively. The high birth prevalence of MPS II in Japan was comparable to that seen in other East Asian countries where this MPS accounted for approximately 50% of all forms of MPS. Birth prevalence was also similar in some European countries (Germany, Northern Ireland, Portugal and the Netherlands) although the prevalence of other forms of MPS was also reported to be higher in these countries. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Wiedemann (1992) provided a biographic sketch of Luis Morquio (1867-1935) of Montevideo. Chudley and Chakravorty (2002) published illustrations of 2 Uruguayan postal stamps honoring Morquio, one issued in 1969 and the other in 2001. </p><p>Bernal and Briceno (2006) examined pottery artifacts from the Tumaco-La Tolita culture, which existed on the border of present-day Colombia and Ecuador approximately 2,500 years ago, and described multiple figurines of an adult with apparent short stature, coarse facies, short nose, short neck, small thorax, and the left shoulder set higher than the right, findings suggestive of mucopolysaccharidosis IV. Bernal and Briceno (2006) believed these artifacts to be among the earliest artistic representations of disease. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Tomatsu et al. (2003) generated transgenic mice homozygous for a disruption in exon 2 of the Galns gene. These mice had no detectable GALNS enzyme activity, showed increased urinary glycosaminoglycan levels, and accumulated glycosaminoglycans in multiple tissues including liver, kidney, spleen, heart, brain, and bone marrow. At 2 months old, lysosomal storage was present primarily within reticuloendothelial cells. By 12 months old, vacuolar change was observed in glomeruli and heart valves. In the brain, hippocampal and neocortical neurons and meningeal cells had lysosomal storage, and keratan sulfate and chondroitin-6-sulfate were more abundant in corneal epithelial cells of Galns -/- mice. Surprisingly, radiographs revealed no change in the skeletal bones of mice up to 12 months old. </p><p>Tomatsu et al. (2008) found that weekly treatment of MPS IVA mice for 12 weeks with enzyme replacement using native GALNS or SUMF1-modified GALNS resulted in clinical improvement, manifest by a marked reduction of storage material in visceral organs, bone marrow, heart valves, ligaments, and connective tissue. Pharmacokinetics and biodistribution were assessed and found to be similar for the 2 GALNS enzymes used. There was a dose-dependent clearance of storage material observed in brain, and blood keratan sulfate was reduced to nearly normal levels. The study provided proof of concept for enzyme replacement therapy in MPS IVA. </p><p>Tomatsu et al. (2008) had noted lack of improvement in bone pathology in MPS IVA mice treated with long-term enzyme replacement therapy (ERT). Tomatsu et al. (2015) administered recombinant enzymes to newborn mice: the first injection was administered intravenously, the second to fourth weekly injections were intraperitoneal, and the remaining injections from the fifth to fourteenth weeks were intravenous into the tail vein. MPS4A mice treated with GALNS showed clearance of lysosomal storage in liver, spleen, and sinus lining cells in bone marrow. The column structure of the growth plate was better organized than that in adult mice treated with ERT; however, hyaline and fibrous cartilage cells in femur, spine, ligaments, discs, synovium, and periosteum still had storage materials to some extent. Heart valves were refractory to treatment. Levels of serum keratan sulfate were kept normal in newborn ERT-treated mice. Tomatsu et al. (2015) concluded that the enzyme, which enters the cartilage before the cartilage cell layer becomes mature, prevents disorganization of column structure. Early treatment from birth leads to partial remission of bone pathology in MPS IVA mice. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Blaw and Langer (1969); Glossl et al. (1980); Langer and Carey
(1966); Linker et al. (1970); Maroteaux and Lamy (1961); Maroteaux et
al. (1982); Masuno et al. (1993); McKusick (1976); Pedrini et al.
(1962); Riedner and Levin (1977); Robins et al. (1963); Singh et al.
(1976); Von Noorden et al. (1960); Yuen and Fensom (1985); Zellweger
et al. (1961)
</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">
Beck, M., Braun, S., Coerdt, W., Merz, E., Young, E., Sewell, A. C.
<strong>Fetal presentation of Morquio disease type A.</strong>
Prenatal Diag. 12: 1019-1029, 1992.
[PubMed: 1287637]
[Full Text: https://doi.org/10.1002/pd.1970121207]
</p>
</li>
<li>
<p class="mim-text-font">
Beck, M., Glossl, J., Grubisic, A., Spranger, J.
<strong>Heterogeneity of Morquio disease.</strong>
Clin. Genet. 29: 325-331, 1986.
[PubMed: 3087664]
[Full Text: https://doi.org/10.1111/j.1399-0004.1986.tb01262.x]
</p>
</li>
<li>
<p class="mim-text-font">
Bernal, J. E., Briceno, I.
<strong>Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia-Ecuador.</strong>
Clin. Genet. 70: 188-191, 2006.
[PubMed: 16922718]
[Full Text: https://doi.org/10.1111/j.1399-0004.2006.00670.x]
</p>
</li>
<li>
<p class="mim-text-font">
Blaw, M. E., Langer, L. O., Jr.
<strong>Spinal cord compression in Morquio-Brailsford&#x27;s disease.</strong>
J. Pediat. 74: 593-600, 1969.
[PubMed: 4237428]
[Full Text: https://doi.org/10.1016/s0022-3476(69)80043-0]
</p>
</li>
<li>
<p class="mim-text-font">
Borlot, F., Arantes, P. R., Quaio, C. R., Franco, J. F. S., Lourenco, C. M., Gomy, I., Bertola, D. R., Kim, C. A.
<strong>Mucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvement.</strong>
Am. J. Med. Genet. 164A: 1162-1169, 2014.
[PubMed: 24478273]
[Full Text: https://doi.org/10.1002/ajmg.a.36424]
</p>
</li>
<li>
<p class="mim-text-font">
Brailsford, J. F.
<strong>Chondro-osteo-dystrophy: roentgenographic and clinical features of child with dislocation of vertebrae.</strong>
Am. J. Surg. 7: 404-410, 1929.
</p>
</li>
<li>
<p class="mim-text-font">
Bunge, S., Kleijer, W. J., Tylki-Szymanska, A., Steglich, C., Beck, M., Tomatsu, S., Fukuda, S., Poorthuis, B. J. H. M., Czartoryska, B., Orii, T., Gal, A.
<strong>Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.</strong>
Hum. Mutat. 10: 223-232, 1997.
[PubMed: 9298823]
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)10:3&lt;223::AID-HUMU8&gt;3.0.CO;2-J]
</p>
</li>
<li>
<p class="mim-text-font">
Caciotti, A., Tonin, R., Rigoldi, M., Ferri, L., Catarzi, S., Cavicchi, C., Procopio, E., Donati, M. A., Ficcadenti, A., Fiumara, A., Barone, R., Garavelli, L., and 16 others.
<strong>Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio--A syndrome-associated mutations.</strong>
Hum. Mutat. 36: 357-368, 2015.
[PubMed: 25545067]
[Full Text: https://doi.org/10.1002/humu.22751]
</p>
</li>
<li>
<p class="mim-text-font">
Cahane, M., Treister, G., Abraham, F. A., Melamed, S.
<strong>Glaucoma in siblings with Morquio syndrome.</strong>
Brit. J. Ophthal. 74: 382-383, 1990.
[PubMed: 2116163]
[Full Text: https://doi.org/10.1136/bjo.74.6.382]
</p>
</li>
<li>
<p class="mim-text-font">
Charrow, J., Alden, T. D., Breathnach, C. A. R., Frawley, G. P., Hendriksz, C. J., Link, B., Mackenzie, W. G., Manara, R., Offiah, A. C., Solano, M. L., Theroux, M.
<strong>Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome.</strong>
Molec. Genet. Metab. 114: 11-18, 2015.
[PubMed: 25496828]
[Full Text: https://doi.org/10.1016/j.ymgme.2014.10.010]
</p>
</li>
<li>
<p class="mim-text-font">
Chudley, A. E., Chakravorty, C.
<strong>Genetic landmarks through philately: Luis Morquio 1867-1935.</strong>
Clin. Genet. 62: 438-439, 2002.
[PubMed: 12485190]
[Full Text: https://doi.org/10.1034/j.1399-0004.2002.620603.x]
</p>
</li>
<li>
<p class="mim-text-font">
Danes, B. S., Bearn, A. G.
<strong>Cellular metachromasia, a genetic marker for studying the mucopolysaccharidoses.</strong>
Lancet 289: 241-243, 1967. Note: Originally Volume 1.
[PubMed: 4163146]
[Full Text: https://doi.org/10.1016/s0140-6736(67)91302-5]
</p>
</li>
<li>
<p class="mim-text-font">
Di Ferrante, N. M., Ginsberg, L. C., Donnelly, P. V., Di Ferrante, D. T., Caskey, C. T.
<strong>Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses.</strong>
Science 199: 79-81, 1978.
[PubMed: 17569489]
[Full Text: https://doi.org/10.1126/science.199.4324.79]
</p>
</li>
<li>
<p class="mim-text-font">
Fujimoto, A., Horwitz, A. L.
<strong>Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome.</strong>
Am. J. Med. Genet. 15: 265-273, 1983.
[PubMed: 6224421]
[Full Text: https://doi.org/10.1002/ajmg.1320150210]
</p>
</li>
<li>
<p class="mim-text-font">
Fukuda, S., Tomatsu, S., Masuno, M., Ogawa, T., Yamagishi, A., Rezvi, G. M. M., Sukegawa, K., Shimozawa, N., Suzuki, Y., Kondo, N., Imaizumi, K., Kuroki, Y., Okabe, T., Orii, T.
<strong>Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.</strong>
Hum. Mutat. 7: 123-134, 1996.
[PubMed: 8829629]
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1996)7:2&lt;123::AID-HUMU6&gt;3.0.CO;2-D]
</p>
</li>
<li>
<p class="mim-text-font">
Gadbois, P., Moreau, J., Laberge, C.
<strong>La maladie de Morquio dans la province de Quebec.</strong>
Un. Med. Canada 102: 602-607, 1973.
[PubMed: 4268299]
</p>
</li>
<li>
<p class="mim-text-font">
Glossl, J., Kresse, H., Mendla, K., Cantz, M., Rosenkranz, W.
<strong>Partial deficiency of glycoprotein neuraminidase in some patients with Morquio disease type A.</strong>
Pediat. Res. 18: 302-305, 1984.
[PubMed: 6427747]
[Full Text: https://doi.org/10.1203/00006450-198403000-00025]
</p>
</li>
<li>
<p class="mim-text-font">
Glossl, J., Lembeck, K., Gamse, G., Kresse, H.
<strong>Morquio&#x27;s disease type A: absence of material cross reacting with antibodies against N-acetylgalactosamine-6-sulfate sulfatase.</strong>
Hum. Genet. 54: 87-91, 1980.
[PubMed: 6156114]
[Full Text: https://doi.org/10.1007/BF00279054]
</p>
</li>
<li>
<p class="mim-text-font">
Greenberg, A. D.
<strong>Atlantoaxial dislocations.</strong>
Brain 91: 655-684, 1968.
[PubMed: 5704829]
[Full Text: https://doi.org/10.1093/brain/91.4.655]
</p>
</li>
<li>
<p class="mim-text-font">
Guiney, W. B., Jr., Stevenson, R. E.
<strong>Morquio disease (MPS IV) with survival to age 67 years.</strong>
Proc. Greenwood Genet. Center 1: 84-87, 1982.
</p>
</li>
<li>
<p class="mim-text-font">
Harmatz, P. R., Mengel, K. E., Giugliani, R., Valayannopoulos, V., Lin, S.-P., Parini, R., Guffon, N., Burton, B. K., Hendriksz, C. J., Mitchell, J. J., Martins, A. M., Jones, S. A., Guelbert, N., Vellodi, A., Wijburg, F. A., Yang, K., Slasor, P., Decker, C.
<strong>Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.</strong>
Molec. Genet. Metab. 114: 186-194, 2015.
[PubMed: 25582974]
[Full Text: https://doi.org/10.1016/j.ymgme.2014.10.015]
</p>
</li>
<li>
<p class="mim-text-font">
Hecht, J. T., Scott, C. I., Jr., Smith, T. K., Williams, J. C.
<strong>Mild manifestations of the Morquio syndrome. (Letter)</strong>
Am. J. Med. Genet. 18: 369-371, 1984.
[PubMed: 6431819]
[Full Text: https://doi.org/10.1002/ajmg.1320180222]
</p>
</li>
<li>
<p class="mim-text-font">
Hendriksz, C. J., Burton, B., Fleming, T. R., Harmatz, P., Hughes, D., Jones, S. A., Lin, S.-P., Mengel, E., Scarpa, M., Valayannopoulos, V., Giugliani, R., STRIVE Investigators, Slasor, P., Lounsbury, D., Dummer, W.
<strong>Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study.</strong>
J. Inherit. Metab. Dis. 37: 979-990, 2014.
[PubMed: 24810369]
[Full Text: https://doi.org/10.1007/s10545-014-9715-6]
</p>
</li>
<li>
<p class="mim-text-font">
Hendriksz, C., Santra, S., Jones, S. A., Geberhiwot, T., Jesaitis, L., Long, B., Qi, Y., Hawley, S. M., Decker, C.
<strong>Safety, immunogenicity, and clinical outcomes in patients with Morquio A syndrome participating in 2 sequential open-label studies of elosulfase alfa enzyme replacement therapy (MOR-002/MOR-100), representing 5 years of treatment.</strong>
Molec. Genet. Metab. 123: 479-487, 2018.
[PubMed: 29526614]
[Full Text: https://doi.org/10.1016/j.ymgme.2018.02.011]
</p>
</li>
<li>
<p class="mim-text-font">
Holzgreve, W., Grobe, H., von Figura, K., Kresse, H., Beck, H., Mattei, J. F.
<strong>Morquio syndrome: clinical findings in 11 patients with MPS IVA and 2 patients with MPS IVB.</strong>
Hum. Genet. 57: 360-365, 1981.
[PubMed: 6793501]
[Full Text: https://doi.org/10.1007/BF00281685]
</p>
</li>
<li>
<p class="mim-text-font">
Hori, T., Tomatsu, S., Nakashima, Y., Uchiyama, A., Fukuda, S., Sukegawa, K., Shimozawa, N., Suzuki, Y., Kondo, N., Horiuchi, T., Ogura, S., Orii, T.
<strong>Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS).</strong>
Genomics 26: 535-542, 1995.
[PubMed: 7607677]
[Full Text: https://doi.org/10.1016/0888-7543(95)80172-i]
</p>
</li>
<li>
<p class="mim-text-font">
Hussels, I.
<strong>Morquio syndrome in a woman with two normal children. In: Bergsma, D. (ed.): Skeletal Dysplasias.</strong>
Amsterdam: Excerpta Medica (pub.) 1974. Pp. 465-466.
</p>
</li>
<li>
<p class="mim-text-font">
Khan, S. A., Peracha, H., Ballhausen, D., Wiesbauer, A., Rohrbach, M., Gautschi, M., Mason, R. W., Giugliani, R., Suzuki, Y., Orii, K. E., Orii, T., Tomatsu, S.
<strong>Epidemiology of mucopolysaccharidoses.</strong>
Molec. Genet. Metab. 121: 227-240, 2017.
[PubMed: 28595941]
[Full Text: https://doi.org/10.1016/j.ymgme.2017.05.016]
</p>
</li>
<li>
<p class="mim-text-font">
Langer, L. O., Jr., Carey, L. S.
<strong>The roentgenographic features of the KS mucopolysaccharidosis of Morquio (Morquio-Brailsford&#x27;s disease).</strong>
Am. J. Roentgen. Radium Ther. Nucl. Med. 97: 1-20, 1966.
[PubMed: 4223084]
[Full Text: https://doi.org/10.2214/ajr.97.1.1]
</p>
</li>
<li>
<p class="mim-text-font">
Levin, L. S., Jorgenson, R. J., Salinas, C. F.
<strong>Oral findings in the Morquio syndrome (mucopolysaccharidosis IV).</strong>
Oral Surg. Oral Med. Oral Path. 39: 390-395, 1975.
[PubMed: 803669]
[Full Text: https://doi.org/10.1016/0030-4220(75)90082-1]
</p>
</li>
<li>
<p class="mim-text-font">
Linker, A., Evans, L. R., Langer, L. O., Jr.
<strong>Morquio&#x27;s disease and mucopolysaccharide excretion.</strong>
J. Pediat. 77: 1039-1047, 1970.
[PubMed: 4249678]
[Full Text: https://doi.org/10.1016/s0022-3476(70)80089-0]
</p>
</li>
<li>
<p class="mim-text-font">
Lowry, R. B., Applegarth, D. A., Toone, J. R., MacDonald, E., Thunem, N. Y.
<strong>An update on the frequency of mucopolysaccharide syndromes in British Columbia.</strong>
Hum. Genet. 85: 389-390, 1990.
[PubMed: 2118475]
[Full Text: https://doi.org/10.1007/BF00206770]
</p>
</li>
<li>
<p class="mim-text-font">
Maroteaux, P., Lamy, M.
<strong>Opacites corneennes et troubles metaboliques dans la maladie de Morquio.</strong>
Rev. Franc. Etud. Clin. Biol. 6: 481-483, 1961.
[PubMed: 13767047]
</p>
</li>
<li>
<p class="mim-text-font">
Maroteaux, P., Stanescu, V., Stanescu, R., Kresse, H., Hors-Cayla, M. C.
<strong>Heterogeneite des formes frustes de la maladie de Morquio.</strong>
Arch. Franc. Pediat. 39: 761-765, 1982.
[PubMed: 6219649]
</p>
</li>
<li>
<p class="mim-text-font">
Masuno, M., Tomatsu, S., Nakashima, Y., Hori, T., Fukuda, S., Masue, M., Sukegawa, K., Orii, T.
<strong>Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24.</strong>
Genomics 16: 777-778, 1993.
[PubMed: 8325655]
[Full Text: https://doi.org/10.1006/geno.1993.1266]
</p>
</li>
<li>
<p class="mim-text-font">
Matalon, R., Arbogast, B., Dorfman, A.
<strong>Morquio&#x27;s syndrome: a deficiency of chondroitin sulfate N-acetylhexosamine sulfate sulfatase. (Abstract)</strong>
Pediat. Res. 8: 436, 1974.
</p>
</li>
<li>
<p class="mim-text-font">
McKusick, V. A.
<strong>Heritable Disorders of Connective Tissue. (4th ed.)</strong>
St. Louis: C. V. Mosby (pub.) 1972.
</p>
</li>
<li>
<p class="mim-text-font">
McKusick, V. A.
<strong>Osler as a medical geneticist.</strong>
Johns Hopkins Med. J. 139: 163-174, 1976.
[PubMed: 824491]
</p>
</li>
<li>
<p class="mim-text-font">
Montano, A. M., Tomatsu, S., Brusius, A., Smith, M., Orii, T.
<strong>Growth charts for patients affected with Morquio A disease.</strong>
Am. J. Med. Genet. 146A: 1286-1295, 2008.
[PubMed: 18412124]
[Full Text: https://doi.org/10.1002/ajmg.a.32281]
</p>
</li>
<li>
<p class="mim-text-font">
Morquio, L.
<strong>Sur une forme de dystrophie osseuse familiale.</strong>
Bull. Soc. Pediat. Paris 27: 145-152, 1929.
</p>
</li>
<li>
<p class="mim-text-font">
Nelson, J., Broadhead, D., Mossman, J.
<strong>Clinical findings in 12 patients with MPS IV A (Morquio&#x27;s disease): further evidence for heterogeneity. Part I: clinical and biochemical findings.</strong>
Clin. Genet. 33: 111-120, 1988.
[PubMed: 3129221]
[Full Text: https://doi.org/10.1111/j.1399-0004.1988.tb03421.x]
</p>
</li>
<li>
<p class="mim-text-font">
Nelson, J., Crowhurst, J., Carey, B., Greed, L.
<strong>Incidence of the mucopolysaccharidoses in western Australia.</strong>
Am. J. Med. Genet. 123A: 310-313, 2003.
[PubMed: 14608657]
[Full Text: https://doi.org/10.1002/ajmg.a.20314]
</p>
</li>
<li>
<p class="mim-text-font">
Nelson, J., Kinirons, M.
<strong>Clinical findings in 12 patients with MPS IV A (Morquio&#x27;s disease): further evidence for heterogeneity. Part II: dental findings.</strong>
Clin. Genet. 33: 121-125, 1988.
[PubMed: 3129222]
[Full Text: https://doi.org/10.1111/j.1399-0004.1988.tb03422.x]
</p>
</li>
<li>
<p class="mim-text-font">
Nelson, J., Thomas, P. S.
<strong>Clinical findings in 12 patients with MPS IV A (Morquio&#x27;s disease): further evidence for heterogeneity. Part III: odontoid dysplasia.</strong>
Clin. Genet. 33: 126-130, 1988.
[PubMed: 3129223]
[Full Text: https://doi.org/10.1111/j.1399-0004.1988.tb03423.x]
</p>
</li>
<li>
<p class="mim-text-font">
Osler, W.
<strong>Sporadic cretinism in America.</strong>
Am. J. Med. Sci. 114: 377-401, 1897.
</p>
</li>
<li>
<p class="mim-text-font">
Pedrini, V., Lennzi, L., Zamtotti, V.
<strong>Isolation and identification of keratosulphate in urine of patients affected by Morquio-Ullrich disease.</strong>
Proc. Soc. Exp. Biol. Med. 110: 847-849, 1962.
[PubMed: 14484871]
[Full Text: https://doi.org/10.3181/00379727-110-27668]
</p>
</li>
<li>
<p class="mim-text-font">
Riedner, E. D., Levin, L. S.
<strong>Hearing patterns in Morquio&#x27;s syndrome (mucopolysaccharidosis IV).</strong>
Arch. Otolaryng. 103: 518-520, 1977.
[PubMed: 409383]
[Full Text: https://doi.org/10.1001/archotol.1977.00780260048003]
</p>
</li>
<li>
<p class="mim-text-font">
Robins, M. M., Stevens, H. F., Linker, A.
<strong>Morquio&#x27;s disease: an abnormality of mucopolysaccharide metabolism.</strong>
J. Pediat. 62: 881-889, 1963.
[PubMed: 13974412]
[Full Text: https://doi.org/10.1016/s0022-3476(63)80102-x]
</p>
</li>
<li>
<p class="mim-text-font">
Singh, J., Di Ferrante, N. M., Niebes, P., Tavella, D.
<strong>N-acetylgalactosamine-6-sulfate sulfatase in man: absence of the enzyme in Morquio disease.</strong>
J. Clin. Invest. 57: 1036-1040, 1976.
[PubMed: 820716]
[Full Text: https://doi.org/10.1172/JCI108345]
</p>
</li>
<li>
<p class="mim-text-font">
Sukegawa, K., Nakamura, H., Kato, Z., Tomatsu, S., Montano, A. M., Fukao, T., Toietta, G., Tortora, P., Orii, T., Kondo, N.
<strong>Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.</strong>
Hum. Molec. Genet. 9: 1283-1290, 2000.
[PubMed: 10814710]
[Full Text: https://doi.org/10.1093/hmg/9.9.1283]
</p>
</li>
<li>
<p class="mim-text-font">
Tomatsu, S., Fukuda, S., Cooper, A., Wraith, J. E., Ferreira, P., Di Natale, P., Tortora, P., Fujimoto, A., Kato, Z., Yamada, N., Isogai, K., Yamagishi, A., Sukegawa, K., Suzuki, Y., Shimozawa, N., Kondo, N., Sly, W. S., Orii, T.
<strong>Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.</strong>
Hum. Mutat. 10: 368-375, 1997.
[PubMed: 9375852]
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)10:5&lt;368::AID-HUMU6&gt;3.0.CO;2-B]
</p>
</li>
<li>
<p class="mim-text-font">
Tomatsu, S., Fukuda, S., Masue, M., Sukegawa, K., Masuno, M., Orii, T.
<strong>Mucopolysaccharidosis type IVA: characterization and chromosomal localization of N-acetylgalactosamine-6-sulfate sulfatase gene and genetic heterogeneity. (Abstract)</strong>
Am. J. Hum. Genet. 51 (suppl.): A178, 1992.
</p>
</li>
<li>
<p class="mim-text-font">
Tomatsu, S., Fukuda, S., Yamagishi, A., Cooper, A., Wraith, J. E., Hori, T., Kato, Z., Yamada, N., Isogai, K., Sukegawa, K., Kondo, N., Suzuki, Y., Shimozawa, N., Orii, T.
<strong>Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.</strong>
Am. J. Hum. Genet. 58: 950-962, 1996.
[PubMed: 8651279]
</p>
</li>
<li>
<p class="mim-text-font">
Tomatsu, S., Montano, A. M., Nishioka, T., Gutierrez, M. A., Pena, O. M., Trandafirescu, G. G., Lopez, P., Yamaguchi, S., Noguchi, A., Orii, T.
<strong>Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).</strong>
Hum. Mutat. 26: 500-512, 2005.
[PubMed: 16287098]
[Full Text: https://doi.org/10.1002/humu.20257]
</p>
</li>
<li>
<p class="mim-text-font">
Tomatsu, S., Montano, A. M., Ohashi, A., Gutierrez, M. A., Oikawa, H, Oguma, T., Dung, V. C., Nishioka, T., Orii, T., Sly, W. S.
<strong>Enzyme replacement therapy in a murine model of Morquio A syndrome.</strong>
Hum. Molec. Genet. 17: 815-824, 2008.
[PubMed: 18056156]
[Full Text: https://doi.org/10.1093/hmg/ddm353]
</p>
</li>
<li>
<p class="mim-text-font">
Tomatsu, S., Montano, A. M., Oikawa, H., Dung, V. C., Hashimoto, A., Oguma, T., Gutierrez, M. L., Takahashi, T., Shimada, T., Orii, T., Sly, W. S.
<strong>Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: early treatment rescues bone lesions?</strong>
Molec. Genet. Metab. 114: 195-202, 2015.
[PubMed: 24953405]
[Full Text: https://doi.org/10.1016/j.ymgme.2014.05.013]
</p>
</li>
<li>
<p class="mim-text-font">
Tomatsu, S., Orii, K. O., Vogler, C., Nakayama, J., Levy, B., Grubb, J. H., Gutierrez, M. A., Shim, S., Yamaguchi, S., Nishioka, T., Montano, A. M., Noguchi, A., Orii, T., Kondo, N., Sly, W. S.
<strong>Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease.</strong>
Hum. Molec. Genet. 12: 3349-3358, 2003.
[PubMed: 14583446]
[Full Text: https://doi.org/10.1093/hmg/ddg366]
</p>
</li>
<li>
<p class="mim-text-font">
Von Noorden, G. K., Zellweger, H., Ponseti, I. V.
<strong>Ocular findings in Morquio-Ullrich&#x27;s disease.</strong>
Arch. Ophthal. 64: 585-591, 1960.
[PubMed: 13782074]
[Full Text: https://doi.org/10.1001/archopht.1960.01840010587017]
</p>
</li>
<li>
<p class="mim-text-font">
Wang, L., Ou, X., Sebesta, I., Vondrak, K., Krijt, J., Elleder, M., Poupetova, H., Ledvinova, J., Zeman, J., Simmonds, H. A., Tischfield, J. A., Sahota, A.
<strong>Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.</strong>
Molec. Genet. Metab. 68: 78-85, 1999.
[PubMed: 10479485]
[Full Text: https://doi.org/10.1006/mgme.1999.2893]
</p>
</li>
<li>
<p class="mim-text-font">
Wang, Z., Zhang, W., Wang, Y., Meng, Y., Su, L., Shi, H., Huang, S.
<strong>Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.</strong>
J. Hum. Genet. 55: 534-540, 2010.
[PubMed: 20574428]
[Full Text: https://doi.org/10.1038/jhg.2010.65]
</p>
</li>
<li>
<p class="mim-text-font">
Wiedemann, H.-R.
<strong>The pioneers of pediatric medicine: Luis Morquio (1867-1935).</strong>
Europ. J. Pediat. 151: 549, 1992.
[PubMed: 1505567]
[Full Text: https://doi.org/10.1007/BF01957716]
</p>
</li>
<li>
<p class="mim-text-font">
Yuen, M., Fensom, A. H.
<strong>Diagnosis of classical Morquio&#x27;s disease: N-acetylgalactosamine 6-sulphate sulphatase activity in cultured fibroblasts, leukocytes, amniotic cells and chorionic villi.</strong>
J. Inherit. Metab. Dis. 8: 80-86, 1985.
[PubMed: 3939537]
[Full Text: https://doi.org/10.1007/BF01801671]
</p>
</li>
<li>
<p class="mim-text-font">
Zellweger, H., Ponseti, I. V., Pedrini, V., Stamler, F. S., Von Noorden, G. K.
<strong>Morquio-Ullrich&#x27;s disease: report of 2 cases.</strong>
J. Pediat. 59: 549-561, 1961.
[PubMed: 14010093]
[Full Text: https://doi.org/10.1016/s0022-3476(61)80239-4]
</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">
Hilary J. Vernon - updated : 04/30/2020<br>Ada Hamosh - updated : 05/29/2018<br>Ada Hamosh - updated : 9/28/2015<br>Cassandra L. Kniffin - updated : 5/13/2015<br>Ada Hamosh - updated : 2/26/2015<br>Ada Hamosh - updated : 2/25/2015<br>Cassandra L. Kniffin - updated : 11/1/2010<br>Cassandra L. Kniffin - updated : 10/9/2009<br>Cassandra L. Kniffin - reorganized : 8/27/2008<br>Marla J. F. O&#x27;Neill - updated : 11/13/2006<br>George E. Tiller - updated : 1/31/2006<br>Victor A. McKusick - updated : 1/6/2006<br>Victor A. McKusick - updated : 11/9/2004<br>Victor A. McKusick - updated : 1/5/2004<br>Victor A. McKusick - updated : 7/9/2003<br>Victor A. McKusick - updated : 12/26/2002<br>George E. Tiller - updated : 6/29/2000<br>Victor A. McKusick - updated : 1/6/2000<br>Victor A. McKusick - updated : 6/12/1998<br>Victor A. McKusick - updated : 4/30/1998<br>Victor A. McKusick - updated : 11/26/1997<br>Victor A. McKusick - updated : 10/10/1997
</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 : 6/4/1986
</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 : 06/17/2022<br>carol : 03/02/2022<br>carol : 04/30/2020<br>carol : 05/31/2018<br>carol : 05/30/2018<br>alopez : 05/29/2018<br>carol : 07/09/2016<br>alopez : 9/28/2015<br>carol : 5/15/2015<br>mcolton : 5/13/2015<br>ckniffin : 5/13/2015<br>mcolton : 3/4/2015<br>alopez : 2/26/2015<br>alopez : 2/25/2015<br>alopez : 2/25/2015<br>alopez : 2/25/2015<br>carol : 2/12/2014<br>mcolton : 2/12/2014<br>wwang : 1/10/2011<br>wwang : 12/9/2010<br>wwang : 12/8/2010<br>ckniffin : 11/1/2010<br>wwang : 11/25/2009<br>ckniffin : 10/9/2009<br>terry : 5/4/2009<br>carol : 8/27/2008<br>ckniffin : 8/22/2008<br>carol : 10/23/2007<br>wwang : 11/13/2006<br>wwang : 1/31/2006<br>wwang : 1/12/2006<br>terry : 1/6/2006<br>terry : 6/9/2005<br>tkritzer : 11/10/2004<br>terry : 11/9/2004<br>alopez : 3/17/2004<br>ckniffin : 3/12/2004<br>carol : 1/14/2004<br>cwells : 1/5/2004<br>cwells : 11/10/2003<br>carol : 7/18/2003<br>terry : 7/9/2003<br>ckniffin : 2/28/2003<br>carol : 1/2/2003<br>tkritzer : 12/27/2002<br>terry : 12/26/2002<br>joanna : 3/28/2001<br>terry : 10/6/2000<br>alopez : 6/29/2000<br>mgross : 1/11/2000<br>terry : 1/6/2000<br>carol : 5/19/1999<br>carol : 6/15/1998<br>terry : 6/15/1998<br>terry : 6/12/1998<br>joanna : 5/14/1998<br>carol : 4/30/1998<br>terry : 4/6/1998<br>alopez : 12/3/1997<br>alopez : 12/3/1997<br>dholmes : 12/1/1997<br>jenny : 10/21/1997<br>jenny : 10/17/1997<br>terry : 10/10/1997<br>alopez : 7/10/1997<br>carol : 6/20/1997<br>mark : 5/3/1996<br>terry : 4/29/1996<br>mimman : 2/8/1996<br>mark : 10/2/1995<br>carol : 9/12/1994<br>davew : 7/25/1994<br>terry : 6/15/1994<br>mimadm : 4/18/1994<br>warfield : 4/15/1994
</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