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Entry
- #253220 - MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7
- OMIM
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<span class="h4">#253220</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/253220"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS607014"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=MUCOPOLYSACCHARIDOSIS, TYPE VII" 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>
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<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:12803" 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/253220" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://omia.org/OMIA000667/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:12803" 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:253220" 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> 124470009, 43916004<br />
<strong>ICD10CM:</strong> E76.29<br />
<strong>ORPHA:</strong> 584<br />
<strong>DO:</strong> 12803<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>
253220
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7
</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">
MPS VII<br />
SLY SYNDROME<br />
BETA-GLUCURONIDASE DEFICIENCY<br />
GUSB 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/7/297?start=-3&limit=10&highlight=297">
7q11.21
</a>
</span>
</td>
<td>
<span class="mim-font">
Mucopolysaccharidosis VII
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253220"> 253220 </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">
GUSB
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611499"> 611499 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/253220" 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/253220" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/253220" 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">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Postnatal growth deficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859778&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859778</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008897" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008897</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008897" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008897</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Macrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12138000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1145403003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1145403003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221355</a>, <a href="https://bioportal.bioontology.org/search?q=C2243051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2243051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Macrocephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050&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> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Coarse facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845847</a> 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> <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 />
</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">
- Variable degree of corneal opacities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854745</a>]</span><br /> -
Heavy eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853487&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853487</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000574" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000574</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000574" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000574</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">
- Enlarged tongue <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25273001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25273001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/270516002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">270516002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K14.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K14.8</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/750.15" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">750.15</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024421</a>, <a href="https://bioportal.bioontology.org/search?q=C0009677&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009677</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000158" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000158</a>]</span><br /> -
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 /> -
Abnormal dentition <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0262444&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0262444</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000164" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000164</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000164" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000164</a>]</span><br /> -
Gingival hypertrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/441787004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">441787004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017567&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017567</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000212</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=e4e28205bf42ed5b9f7c80e5ea624dec" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Gingival_Overgrowth-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=e4e28205bf42ed5b9f7c80e5ea624dec&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> Neck </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short neck <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95427009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95427009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521525</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Neck,Short-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531&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>
<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 /> -
Cardiomyopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85898001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85898001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57809008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57809008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0878544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Decreased pulmonary function <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80954004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80954004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235063&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235063</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002791" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002791</a>]</span><br /> -
Recurrent upper respiratory 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>
<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 lower ribs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854744&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854744</a>]</span><br /> -
Pectus carinatum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205101001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205101001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38774000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38774000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.82</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2939416&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2939416</a>, <a href="https://bioportal.bioontology.org/search?q=C0158731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000768" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000768</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000768" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000768</a>]</span><br /> -
Chest deformities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238983&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238983</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">
- Umbilical hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396347007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396347007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/553.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">553.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019322</a>, <a href="https://bioportal.bioontology.org/search?q=C0041636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span><br /> -
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 <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> 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> <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>
<span class="h5 mim-font">
<em> Spleen </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Dysostosis multiplex <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254069004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254069004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5848292&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848292</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000943</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000943</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Skull </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- J-shaped sella turcica <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854718&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854718</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002680</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002680</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- 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 /> -
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 /> -
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 /> -
Thoracolumbar gibbus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855418&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855418</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005619" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005619</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005619" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005619</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 /> -
Anterior beaking of lower thoracic and lumbar vertebrae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854747&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854747</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">
- Acetabular dysplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52781008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52781008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1328407&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1328407</a>, <a href="https://bioportal.bioontology.org/search?q=C4551649&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551649</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008807" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008807</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001385</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008807" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008807</a>]</span><br /> -
Narrow sciatic notches <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/289457006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">289457006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0566888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0566888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003375" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003375</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003375" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003375</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 contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7890003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7890003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/718.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/718.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009918</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034392</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 />
</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 metacarpals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854749&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854749</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006119</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006119</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Metatarsus adductus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23568008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23568008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.22</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.53" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.53</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265647&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265647</a>, <a href="https://bioportal.bioontology.org/search?q=C4082169&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4082169</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001840" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001840</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001840" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001840</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6cd23b559b8e056832b088ae138ae574" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Metatarsus_Adductus-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6cd23b559b8e056832b088ae138ae574&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 /> -
Talipes equinovarus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397932003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397932003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156475005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hirsutism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399939002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399939002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L68.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L68.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/704.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001007</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">
- Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Poor speech <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848207</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002465" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002465</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002465" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002465</a>]</span><br /> -
Hydrocephalus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230745008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230745008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020255</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span><br /> -
Neurodegeneration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027746&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027746</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002180" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002180</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002180" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002180</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> PRENATAL MANIFESTATIONS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hydrops fetalis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276508000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276508000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/P83.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P83.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020305</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001789" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001789</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001789" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001789</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Beta-glucuronidase deficiency in fibroblasts and leukocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854750&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854750</a>]</span><br /> -
Dermatan and heparan sulfate excretion in urine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839696&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839696</a>]</span><br /> -
Coarse metachromatic granules in white blood cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854751&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854751</a>]</span><br /> -
Chondroitin 4-, 6-sulfate excretion in urine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854752&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854752</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">
- Wide spectrum of severity<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 beta-glucuronidase gene (GUSB, <a href="/entry/611499#0001">611499.0001</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>
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<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>
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<div>
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<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<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>
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<p>A number sign (#) is used with this entry because mucopolysaccharidosis type VII (MPS7) is caused by homozygous or compound heterozygous mutation in the gene encoding beta-glucuronidase (GUSB; <a href="/entry/611499">611499</a>) on chromosome 7q11.</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">
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<strong>Description</strong>
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<p>Mucopolysaccharidosis type VII (MPS7) is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (<a href="#22" class="mim-tip-reference" title="Shipley, J. M., Klinkenberg, M., Wu, B. M., Bachinsky, D. R., Grubb, J. H., Sly, W. S. &lt;strong&gt;Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.&lt;/strong&gt; Am. J. Hum. Genet. 52: 517-526, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7680524/&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;7680524&lt;/a&gt;]" pmid="7680524">Shipley et al., 1993</a>). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7680524" 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>
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<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>
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</h4>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<p><a href="#24" class="mim-tip-reference" title="Sly, W. S., Quinton, B. A., McAlister, W. H., Rimoin, D. L. &lt;strong&gt;Beta-glucuronidase deficiency: report of clinical, radiologic and biochemical features of a new mucopolysaccharidosis.&lt;/strong&gt; J. Pediat. 82: 249-257, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4265197/&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;4265197&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(73)80162-3&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="4265197">Sly et al. (1973)</a> reported a boy with skeletal changes consistent with a mucopolysaccharidosis, hepatosplenomegaly, and granular inclusions in granulocytes. He had hernias, unusual facies, protruding sternum, thoracolumbar gibbus, vertebral deformities, and mental deficiency. Fibroblasts demonstrated deficiency of beta-glucuronidase activity, at less than 2% of control values. Both parents and several sibs of the mother showed an intermediate level of the enzyme. <a href="#22" class="mim-tip-reference" title="Shipley, J. M., Klinkenberg, M., Wu, B. M., Bachinsky, D. R., Grubb, J. H., Sly, W. S. &lt;strong&gt;Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.&lt;/strong&gt; Am. J. Hum. Genet. 52: 517-526, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7680524/&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;7680524&lt;/a&gt;]" pmid="7680524">Shipley et al. (1993)</a> provided follow-up of the patient reported by <a href="#24" class="mim-tip-reference" title="Sly, W. S., Quinton, B. A., McAlister, W. H., Rimoin, D. L. &lt;strong&gt;Beta-glucuronidase deficiency: report of clinical, radiologic and biochemical features of a new mucopolysaccharidosis.&lt;/strong&gt; J. Pediat. 82: 249-257, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4265197/&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;4265197&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(73)80162-3&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="4265197">Sly et al. (1973)</a>. Additional features included cardiac valvular anomalies and progressive skeletal deformities of the thorax, spine, hip, and knee joints. He died suddenly at age 19 years, possibly of a cardiac arrhythmia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4265197+7680524" 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="Gitzelmann, R., Wiesmann, U. N., Spycher, M. A., Herschkowitz, N., Giedion, A. &lt;strong&gt;Unusually mild course of beta-glucuronidase deficiency in two brothers (mucopolysaccharidosis VII).&lt;/strong&gt; Helv. Paediat. Acta 33: 413-428, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/101485/&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;101485&lt;/a&gt;]" pmid="101485">Gitzelmann et al. (1978)</a> described 2 brothers in whom MPS VII was unusually mild. Asymptomatic thoracic kyphosis and mild scoliosis were the main clinical features. Hernia, hepatosplenomegaly, corneal clouding, and dwarfing were absent. Radiologic signs were mild, confined to the spine, and consisted of irregularities of upper and lower vertebral plates, of vertebral flattening and some osteophytic changes. Both patients excreted excessive amounts of acid mucopolysaccharides in urine. Both had granulations in polymorphonuclear cells and to a lesser degree in monocytes. Cultured skin fibroblasts also had metachromatic granules; they showed about 10% of normal beta-glucuronidase activity. The older brother, aged 19 years, was the oldest known case. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=101485" 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="Sewell, A. C., Gehler, J., Mittermaier, G., Meyer, E. &lt;strong&gt;Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a report of a new case and a survey of those in the literature.&lt;/strong&gt; Clin. Genet. 21: 366-373, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6813001/&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;6813001&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1982.tb01389.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="6813001">Sewell et al. (1982)</a> reported a 6-year-old Turkish girl with MPS VII who presented in infancy with facial asymmetry, deformed feet, and delayed motor development. At age 5 years, she had disproportionate dwarfism, sternal protrusion, kyphosis, scoliosis, and hypertrichosis. She had a small umbilical hernia and mild liver enlargement. Motor function was normal, but speech was delayed. Radiographic examination showed widening of the iliac wings and broad ribs. Beta-glucuronidase activity in serum was essentially absent, but was 5.6% of control values in cultured fibroblasts. In a review of reported cases, <a href="#21" class="mim-tip-reference" title="Sewell, A. C., Gehler, J., Mittermaier, G., Meyer, E. &lt;strong&gt;Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a report of a new case and a survey of those in the literature.&lt;/strong&gt; Clin. Genet. 21: 366-373, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6813001/&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;6813001&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1982.tb01389.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="6813001">Sewell et al. (1982)</a> suggested that MPS VII comprises 3 main clinical groups: an early severe lethal form (<a href="#1" class="mim-tip-reference" title="Beaudet, A. L., DiFerrante, N. M., Ferry, G. D., Nichols, B. L., Jr., Mullins, C. E. &lt;strong&gt;Variation in the phenotype expression of beta-glucuronidase deficiency.&lt;/strong&gt; J. Pediat. 86: 388-394, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/803560/&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;803560&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(75)80968-1&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="803560">Beaudet et al., 1975</a>); an 'intermediate' form with slight organomegaly and moderate skeletal anomalies (the patient reported by <a href="#21" class="mim-tip-reference" title="Sewell, A. C., Gehler, J., Mittermaier, G., Meyer, E. &lt;strong&gt;Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a report of a new case and a survey of those in the literature.&lt;/strong&gt; Clin. Genet. 21: 366-373, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6813001/&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;6813001&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1982.tb01389.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="6813001">Sewell et al., 1982</a>); and a very mild form in which patients present later and show longer survival (<a href="#8" class="mim-tip-reference" title="Gitzelmann, R., Wiesmann, U. N., Spycher, M. A., Herschkowitz, N., Giedion, A. &lt;strong&gt;Unusually mild course of beta-glucuronidase deficiency in two brothers (mucopolysaccharidosis VII).&lt;/strong&gt; Helv. Paediat. Acta 33: 413-428, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/101485/&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;101485&lt;/a&gt;]" pmid="101485">Gitzelmann et al., 1978</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=101485+803560+6813001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Pfeiffer, R. A., Kresse, H., Baumer, N., Sattinger, E. &lt;strong&gt;Beta-glucuronidase deficiency in a girl with unusual clinical features.&lt;/strong&gt; Europ. J. Pediat. 126: 155-161, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/144057/&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;144057&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00442197&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="144057">Pfeiffer et al. (1977)</a> reported a girl with a mild form of MPS VII. <a href="#26" class="mim-tip-reference" title="Storch, S., Wittenstein, B., Islam, R., Ullrich, K., Sly, W. S., Braulke, T. &lt;strong&gt;Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.&lt;/strong&gt; Hum. Genet. 112: 190-194, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12522561/&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;12522561&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-002-0849-5&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="12522561">Storch et al. (2003)</a> provided a detailed clinical follow-up of this girl. The disorder was first diagnosed at the age of 7 years based on the clinical features of short stature, mild craniofacial dysmorphism, corneal opacity, a broad-based gait, and mild mental retardation. X-ray evaluation showed signs of dysostosis multiplex. Urinary excretion of total glycosaminoglycans was increased and consisted of dermatan, chondroitin, and heparan sulfate. Decreased beta-glucuronidase activity was found in serum, lymphocytes, and cultured skin fibroblasts. The patient completed her schooling for the mentally retarded and worked in her parents' business as a switchboard operator. By the age of 34 years, spasticity, especially of the upper limbs, had increased. Cervical MRI and CT scans showed a dense pseudoarthrosis with odontoid dysplasia, a hypoplastic atlantal arch, and narrowed intervertebral foramina in segments C2-C4. Anterior, and especially posterior, ligamentous structures in segments C1-C3 were thickened and caused spinal cord compression with central signal hypodensities. Surgical relief of the spinal cord compression was performed. At the age of 37 years, the patient was 146 cm tall and showed macrocephaly, mild facial dysmorphism, macroglossia, and prognathia. Corneal opacity was mild and had not progressed since the age of 5 years; hearing was normal. She also had sternal protrusion, thoracolumbar scoliosis, lumbar lordosis, and contractions of the large joints. Neurologic examination showed spastic tetraplegia with hyperactive deep tendon reflexes and positive Babinski signs. The patient died unexpectedly at the age of 37 years, presumably as a consequence of cardiac arrest. In this patient, <a href="#26" class="mim-tip-reference" title="Storch, S., Wittenstein, B., Islam, R., Ullrich, K., Sly, W. S., Braulke, T. &lt;strong&gt;Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.&lt;/strong&gt; Hum. Genet. 112: 190-194, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12522561/&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;12522561&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-002-0849-5&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="12522561">Storch et al. (2003)</a> identified compound heterozygosity for 2 mutations in the GUSB gene (<a href="/entry/611499#0013">611499.0013</a>; <a href="/entry/611499#0014">611499.0014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=144057+12522561" 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="#25" class="mim-tip-reference" title="Stangenberg, M., Lingman, G., Roberts, G., Ozand, P. &lt;strong&gt;Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy.&lt;/strong&gt; Am. J. Med. Genet. 44: 142-144, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1456282/&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;1456282&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320440205&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="1456282">Stangenberg et al. (1992)</a> and <a href="#6" class="mim-tip-reference" title="de Kremer, R. D., Givogri, I., Argarana, C. E., Hliba, E., Conci, R., Boldini, C. D., Capra, A. P. &lt;strong&gt;Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a chronic variant with an oligosymptomatic severe skeletal dysplasia.&lt;/strong&gt; Am. J. Med. Genet. 44: 145-152, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1456283/&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;1456283&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320440206&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="1456283">de Kremer et al. (1992)</a> described phenotypic extremes in beta-glucuronidase deficiency: a case with fetal hydrops presenting at 18 weeks' gestation and a chronic oligosymptomatic variant in a 20-year-old male with severe skeletal dysplasia, respectively. In the former case the parents were first cousins and there had been 2 previous similar fetal deaths. In the latter case there was no hepatosplenomegaly, hernia, corneal clouding, or neurologic abnormalities. Although the patient had Alder-type granulations in his polymorphonuclear leukocytes, the urine did not contain a significant excess of mucopolysaccharides. The most striking changes of spondyloepiphyseal dysplasia were in the thoracic spine, with flattening and collapse in T7, T8, and T10 vertebral bodies, and in the femoral capital epiphyses, which showed irregularities and fragmentation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1456283+1456282" 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="#33" class="mim-tip-reference" title="Walter-Nicolet, E., Rakza, T., Storme, L., Vaillant, C., Magnenant, E., Cremer, R., Thumerelle, C., Dobbelaere, D. &lt;strong&gt;A new case of mucopolysaccharidosis VII presenting as non immune hydrops fetalis.&lt;/strong&gt; Europ. J. Pediat. 162: 520-521, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12748853/&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;12748853&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00431-003-1198-7&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="12748853">Walter-Nicolet et al. (2003)</a> described a 1-year-old Algerian girl with MPS VII, born to consanguineous parents, who presented with nonimmune hydrops fetalis. She had facial dysmorphism, hepatosplenomegaly, and hypertrophic cardiomyopathy. The mother, aged 27, had experienced 2 unexplained spontaneous abortions at 18 and 12 weeks of gestation. Hydrops fetalis was discovered at 20 weeks' gestation with ascites, bilateral pleural effusion, and hydramnios. Brain ultrasound scan showed a moderate bilateral hydrocephalus confirmed by cerebral MRI. Clinical features noted at birth included facial dysmorphism with coarsened facies, hypertelorism, epicanthus, anti-mongoloid eyelids, short nose with anteversion of the nostrils; pterygium colli; and hepatosplenomegaly. Axial hypotonia and peripheral hypertonia were present. Echocardiography showed moderate hypertrophic cardiomyopathy. Brain ultrasound scan showed moderate ventricular dilatation at 9 and 11 mm with normal brain morphology. Skeletal radiography was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12748853" 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="Montano, A. M., Lock-Hock, N., Steiner, R. D., Graham, B. H., Szlago, M., Greenstein, R., Pineda, M., Gonzalez-Meneses, A., Coker, M., Bartholomew, D., Sands, M. S., Wang, R., and 16 others. &lt;strong&gt;Clinical course of Sly syndrome (mucopolysaccharidosis type VII).&lt;/strong&gt; J. Med. Genet. 53: 403-418, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26908836/&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;26908836&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=26908836[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2015-103322&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="26908836">Montano et al. (2016)</a> collected clinical information on 56 patients from 11 countries with MPS VII in order to assess the phenotype. Ten patients had neonatal nonimmune hydrops fetalis (NIHF), 13 had an infantile or adolescent form of the disorder with a history of hydrops fetalis, and 33 had an infantile or adolescent form without known hydrops fetalis. Twenty (36%) were confirmed to have died. The patients had a wide range of clinical manifestations from mild to severe. Patients with mild or moderate manifestations had coarse facial features, corneal clouding, frequent upper respiratory infections, and milder skeletal abnormalities. Patients with more severe phenotypes showed short stature and greater skeletal dysplasia, macrocephaly, recurrent ear infections, gingival hypertrophy, hepatosplenomegaly, hernias, and cognitive impairment. Other common features included valvular heart disease, cardiomyopathy, and compromised respiratory function associated with recurrent infections and structural chest abnormalities. The presence of NIHF did not predict the severity of the disease course if the patient survived infancy. Five patients underwent bone marrow transplantation and 1 patient underwent enzyme replacement therapy with recombinant human GUS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26908836" 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>
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<p>By immunoassay, <a href="#3" class="mim-tip-reference" title="Bell, C. E., Jr., Sly, W. S., Brot, F. E. &lt;strong&gt;Human beta-glucuronidase deficiency mucopolysaccharidosis: identification of cross-reactive antigen in cultured fibroblasts of deficient patients by enzyme immunoassay.&lt;/strong&gt; J. Clin. Invest. 59: 97-105, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/401508/&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;401508&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI108627&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="401508">Bell et al. (1977)</a> identified cross-reactive antigen in cultured fibroblasts from 4 unrelated patients with deficiency of beta-glucuronidase activity. Titration patterns suggested allelic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=401508" 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>
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<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
<a href="#16" class="mim-tip-reference" title="Lissens, W., Dedobbeleer, G., Foulon, W., De Catte, L., Charels, K., Goossens, A., Liebaers, I. &lt;strong&gt;Beta-glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis.&lt;/strong&gt; Prenatal Diag. 11: 405-410, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1833732/&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;1833732&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/pd.1970110612&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="1833732">Lissens et al. (1991)</a> described a case of beta-glucuronidase deficiency presenting as nonimmune hydrops fetalis diagnosed at 26 weeks of gestation. The deficiency was disclosed on cultured amniotic fluid cells and in fetal plasma and was confirmed post-abortion. In a second pregnancy, a normal beta-glucuronidase activity was found in extracts of chorionic villi obtained at 10 weeks of gestation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1833732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Kagie, M. J., Kleijer, W. J., Huijmans, J. G. M., Maaswinkel-Mooy, P., Kanhai, H. H. H. &lt;strong&gt;Beta-glucuronidase deficiency as a cause of fetal hydrops.&lt;/strong&gt; Am. J. Med. Genet. 42: 693-695, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1632440/&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;1632440&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320420513&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="1632440">Kagie et al. (1992)</a> demonstrated beta-glucuronidase deficiency as a cause of hydrops fetalis by study of the amniotic fluid obtained at 25 weeks' gestation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1632440" 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="#30" class="mim-tip-reference" title="van Eyndhoven, H. W. F., ter Brugge, H. G., van Essen, A. J., Kleijer, W. J. &lt;strong&gt;Beta-glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling.&lt;/strong&gt; Prenatal Diag. 18: 959-962, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9793981/&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;9793981&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1097-0223(199809)18:9&lt;959::aid-pd372&gt;3.0.co;2-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="9793981">Van Eyndhoven et al. (1998)</a> diagnosed beta-glucuronidase deficiency as the cause of nonimmune hydrops fetalis by enzymatic assay of chorionic villi. In their patient, hydrops fetalis had occurred in 2 previous pregnancies. Chorionic villus sampling performed in the eleventh week of the subsequent pregnancy indicated that the fetus was affected. After termination in the twelfth week, signs of early hydrops fetalis were observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9793981" 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="#29" class="mim-tip-reference" title="van Dorpe, J., Moerman, P., Pecceu, A., van den Steen, P., Fryns, J. P. &lt;strong&gt;Non-immune hydrops fetalis caused by beta-glucuronidase deficiency (mucopolysaccharidosis VII): study of a family with 3 affected siblings.&lt;/strong&gt; Genet. Counsel. 7: 105-112, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8831129/&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;8831129&lt;/a&gt;]" pmid="8831129">Van Dorpe et al. (1996)</a> described a family in which 3 consecutive fetuses were affected. Striking ascites and fetal hydrops were noted in the first fetus, and the pregnancy was terminated. Microscopic study revealed prominently vacuolated Hofbauer cells in the placenta and foamy macrophages in liver, spleen, bone marrow, and other organs. Greatly reduced activity of beta-glucuronidase in cultured skin fibroblasts confirmed the diagnosis of MPS VII. Edema of the neck and back in the next pregnancy led to a presumptive diagnosis of MPS VII, which was confirmed by the finding of very low enzyme activity in chorionic villus cells. The morphologic manifestations were the same in all 3 cases. <a href="#29" class="mim-tip-reference" title="van Dorpe, J., Moerman, P., Pecceu, A., van den Steen, P., Fryns, J. P. &lt;strong&gt;Non-immune hydrops fetalis caused by beta-glucuronidase deficiency (mucopolysaccharidosis VII): study of a family with 3 affected siblings.&lt;/strong&gt; Genet. Counsel. 7: 105-112, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8831129/&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;8831129&lt;/a&gt;]" pmid="8831129">Van Dorpe et al. (1996)</a> emphasized the significance of morphologic examination of the fetus and placenta for the diagnosis of MPS VII. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8831129" 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>
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<a id="populationGenetics" class="mim-anchor"></a>
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<p><a href="#14" 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 (see <a href="/entry/253000">253000</a>) accounted for 15%, 16%, and 10%, respectively. MPS VI (<a href="/entry/253200">253200</a>) and VII 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>
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<p><a href="#34" class="mim-tip-reference" title="Yamada, Y., Kato, K., Sukegawa, K., Tomatsu, S., Fukuda, S., Emura, S., Kojima, S., Matsuyama, T., Sly, W. S., Kondo, N., Orii, T. &lt;strong&gt;Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation.&lt;/strong&gt; Bone Marrow Transplant. 21: 629-634, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9543069/&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;9543069&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.bmt.1701141&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="9543069">Yamada et al. (1998)</a> reported that allogeneic bone marrow transplant in a 12-year-old Japanese girl with MPS VII resulted in improved motor function and activities of daily living, decreased upper respiratory and ear infections, but no improvement in cognitive function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9543069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Harmatz, P., Whitley, C. B., Wang, R. Y., Bauer, M., Song, S., Haller, C., Kakkis, E. &lt;strong&gt;A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease.&lt;/strong&gt; Molec. Genet. Metab. 123: 488-494, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29478819/&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;29478819&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2018.02.006&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="29478819">Harmatz et al. (2018)</a> reported a phase 3 interventional clinical trial of vestronidase alfa (recombinant human beta-glucuronidase) in 12 individuals with MPS VII. Using a Blind Start approach with 4 cohorts, they found that all patients had a significant decrease in urinary glycosaminoglycan excretion, 10 of 12 patients had at least one clinically meaningful improvement in a Multi-Domain Responder Index used to evaluate change in a series of clinical endpoints, and 9 of 12 patients improved over base line in fatigue at some point during the study, although the improvement in fatigue did not reach statistical significance. Safety endpoints were similar between groups. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29478819" 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>
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<p>The transmission pattern of MPS7 in the patients reported by <a href="#27" class="mim-tip-reference" title="Tomatsu, S., Fukuda, S., Sukegawa, K., Ikedo, Y., Yamada, S., Yamada, Y., Sasaki, T., Okamoto, H., Kuwahara, T., Yamaguchi, S., Kiman, T., Shintaku, H., Isshiki, G., Orii, T. &lt;strong&gt;Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.&lt;/strong&gt; Am. J. Hum. Genet. 48: 89-96, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1702266/&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;1702266&lt;/a&gt;]" pmid="1702266">Tomatsu et al. (1991)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1702266" 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>
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<p>In 2 unrelated Japanese patients with MPS VII, <a href="#27" class="mim-tip-reference" title="Tomatsu, S., Fukuda, S., Sukegawa, K., Ikedo, Y., Yamada, S., Yamada, Y., Sasaki, T., Okamoto, H., Kuwahara, T., Yamaguchi, S., Kiman, T., Shintaku, H., Isshiki, G., Orii, T. &lt;strong&gt;Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.&lt;/strong&gt; Am. J. Hum. Genet. 48: 89-96, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1702266/&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;1702266&lt;/a&gt;]" pmid="1702266">Tomatsu et al. (1991)</a> identified 2 different homozygous mutations in the GUSB gene (<a href="/entry/611499#0001">611499.0001</a> and <a href="/entry/611499#0002">611499.0002</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1702266" 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 RT-PCR-SSCP and direct sequencing to screen for mutations in the GUSB cDNA, <a href="#32" class="mim-tip-reference" title="Vervoort, R., Islam, M. R., Sly, W. S., Zabot, M.-T., Kleijer, W. J., Chabas, A., Fensom, A., Young, E. P., Liebaers, I., Lissens, W. &lt;strong&gt;Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.&lt;/strong&gt; Am. J. Hum. Genet. 58: 457-471, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8644704/&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;8644704&lt;/a&gt;]" pmid="8644704">Vervoort et al. (1996)</a> studied 17 MPS VII patients with hydrops fetalis or early and severe clinical presentation. In addition to 6 of 12 previously reported mutations, they detected 14 novel mutations. The mutations in hydropic fetuses were widely scattered in the GUSB gene. Analysis of 3 polymorphic sites in the mutant alleles allowed exclusion of identity by descent for some recurrent mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644704" 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="#31" class="mim-tip-reference" title="Vervoort, R., Buist, N. R. M., Kleijer, W. J., Wevers, R., Fryns, J.-P., Liebaers, I., Lissens, W. &lt;strong&gt;Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.&lt;/strong&gt; Hum. Genet. 99: 462-468, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9099834/&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;9099834&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390050389&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="9099834">Vervoort et al. (1997)</a> identified 5 novel mutations in the GUSB gene in 5 MPS VII patients. Four patients presented with hydrops fetalis and 1 with an early infantile form of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9099834" 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="Tomatsu, S., Orii, K. O., Vogler, C., Grubb, J. H., Snella, E. M., Gutierrez, M. A., Dieter, T., Sukegawa, K., Orii, T., Kondo, N., Sly, W. S. &lt;strong&gt;Missense models [Gus(tm(E536A)Sly), Gus(tm(E536Q)Sly), and Gus(tm(L175F)Sly)] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.&lt;/strong&gt; Proc. Nat. Acad. Sci. 99: 14982-14987, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12403825/&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;12403825&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12403825[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/10.1073/pnas.232570999&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="12403825">Tomatsu et al. (2002)</a> stated that more than 45 different mutations in the GUSB gene had been identified in patients with MPS VII, approximately 90% of which were point mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12403825" 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>
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<p>See <a href="/entry/611499">611499</a> for information on animal models of MPS VII.</p>
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<a href="#Beaudet1974" class="mim-tip-reference" title="Beaudet, A. L., DiFerrante, N. M., Ferry, G. D., Nichols, B. L., Jr. &lt;strong&gt;Beta-glucuronidase deficiency (mucopolysaccharidosis type VII). In: Bergsma, D.: Skeletal Dysplasias.&lt;/strong&gt; Amsterdam: Excerpta Medica (pub.) 1974. Pp. 246-250.">Beaudet et al. (1974)</a>; <a href="#Brot1974" class="mim-tip-reference" title="Brot, F. E., Glaser, J. H., Roozen, K. J., Sly, W. S. &lt;strong&gt;In vitro correction of deficient human fibroblast by beta-glucuronidase from different human sources.&lt;/strong&gt; Biochem. Biophys. Res. Commun. 57: 1-8, 1974.">Brot et al. (1974)</a>; <a href="#Danes1974" class="mim-tip-reference" title="Danes, B. S., Degnan, M. &lt;strong&gt;Different clinical and biochemical phenotypes associated with beta-glucuronidase deficiency. In: Bergsma, D.: Skeletal Dysplasias.&lt;/strong&gt; Amsterdam: Excerpta Medica (pub.) 1974. Pp. 251-257.">Danes and Degnan (1974)</a>; <a href="#Gehler1974" class="mim-tip-reference" title="Gehler, J., Cantz, M., Tolksdorf, M., Spranger, J. W. &lt;strong&gt;Mucopolysaccharidosis VII: beta-glucuronidase deficiency.&lt;/strong&gt; Humangenetik 23: 149-158, 1974.">Gehler et al. (1974)</a>; <a href="#Glaser1973" class="mim-tip-reference" title="Glaser, J. H., Sly, W. S. &lt;strong&gt;Beta-glucuronidase deficiency mucopolysaccharidosis: methods for enzymatic diagnosis.&lt;/strong&gt; J. Lab. Clin. Med. 82: 969-977, 1973.">Glaser and Sly (1973)</a>; <a href="#Guibaud1979" class="mim-tip-reference" title="Guibaud, P., Maire, I., Goddon, R., Teyssier, G., Zabot, M. T., Mandon, G. &lt;strong&gt;Mucopolysaccharidose type VII par deficit en beta-glucuronidase: etude d&#x27;une famille.&lt;/strong&gt; J. Genet. Hum. 27: 29-43, 1979.">Guibaud et al. (1979)</a>; <a href="#Hoyme1981" class="mim-tip-reference" title="Hoyme, H. E., Jones, K. L., Higginbottom, M. C., O&#x27;Brien, J. S. &lt;strong&gt;Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy.&lt;/strong&gt; J. Med. Genet. 18: 237-239, 1981.">Hoyme et al. (1981)</a>; <a href="#Lee1985" class="mim-tip-reference" title="Lee, J. E. S., Falk, R. E., Ng, W. G., Donnell, G. N. &lt;strong&gt;Beta-glucuronidase deficiency: a heterogenous mucopolysaccharidosis.&lt;/strong&gt; Am. J. Dis. Child. 139: 57-59, 1985.">Lee et al. (1985)</a>; <a href="#Nelson1982" class="mim-tip-reference" title="Nelson, A., Peterson, L., Frampton, B., Sly, W. S. &lt;strong&gt;Mucopolysaccharidosis VII (beta-glucuronidase deficiency) presenting as nonimmune hydrops fetalis.&lt;/strong&gt; J. Pediat. 101: 574-576, 1982.">Nelson et al. (1982)</a>; <a href="#Peterson1982" class="mim-tip-reference" title="Peterson, L., Parkin, J., Nelson, A. &lt;strong&gt;Mucopolysaccharidosis type VII: a morphologic, cytochemical, and ultrastructural study of the blood and bone marrow.&lt;/strong&gt; Am. J. Clin. Path. 78: 544-548, 1982.">Peterson et al. (1982)</a>; <a href="#Sly1974" class="mim-tip-reference" title="Sly, W. S., Brot, F. E., Glaser, J. H., Stahl, P. D., Quinton, B. A., Rimoin, D. L., McAlister, W. H. &lt;strong&gt;Beta-glucuronidase deficiency mucopolysaccharidosis. In: Bergsma, D.: Skeletal Dysplasias.&lt;/strong&gt; Amsterdam: Excerpta Medica (pub.) 1974. Pp. 239-245.">Sly et al. (1974)</a>
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<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>
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<a id="1" class="mim-anchor"></a>
<a id="Beaudet1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Beaudet, A. L., DiFerrante, N. M., Ferry, G. D., Nichols, B. L., Jr., Mullins, C. E.
<strong>Variation in the phenotype expression of beta-glucuronidase deficiency.</strong>
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[<a href="https://doi.org/10.1016/s0022-3476(75)80968-1" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="2" class="mim-anchor"></a>
<a id="Beaudet1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Beaudet, A. L., DiFerrante, N. M., Ferry, G. D., Nichols, B. L., Jr.
<strong>Beta-glucuronidase deficiency (mucopolysaccharidosis type VII). In: Bergsma, D.: Skeletal Dysplasias.</strong>
Amsterdam: Excerpta Medica (pub.) 1974. Pp. 246-250.
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<a id="Bell1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bell, C. E., Jr., Sly, W. S., Brot, F. E.
<strong>Human beta-glucuronidase deficiency mucopolysaccharidosis: identification of cross-reactive antigen in cultured fibroblasts of deficient patients by enzyme immunoassay.</strong>
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[<a href="https://doi.org/10.1172/JCI108627" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="4" class="mim-anchor"></a>
<a id="Brot1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Brot, F. E., Glaser, J. H., Roozen, K. J., Sly, W. S.
<strong>In vitro correction of deficient human fibroblast by beta-glucuronidase from different human sources.</strong>
Biochem. Biophys. Res. Commun. 57: 1-8, 1974.
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[<a href="https://doi.org/10.1016/s0006-291x(74)80349-9" target="_blank">Full Text</a>]
</p>
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</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Danes1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Danes, B. S., Degnan, M.
<strong>Different clinical and biochemical phenotypes associated with beta-glucuronidase deficiency. In: Bergsma, D.: Skeletal Dysplasias.</strong>
Amsterdam: Excerpta Medica (pub.) 1974. Pp. 251-257.
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<a id="de Kremer1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
de Kremer, R. D., Givogri, I., Argarana, C. E., Hliba, E., Conci, R., Boldini, C. D., Capra, A. P.
<strong>Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a chronic variant with an oligosymptomatic severe skeletal dysplasia.</strong>
Am. J. Med. Genet. 44: 145-152, 1992.
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[<a href="https://doi.org/10.1002/ajmg.1320440206" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Gehler1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gehler, J., Cantz, M., Tolksdorf, M., Spranger, J. W.
<strong>Mucopolysaccharidosis VII: beta-glucuronidase deficiency.</strong>
Humangenetik 23: 149-158, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4277583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4277583</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4277583" 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/BF00282212" target="_blank">Full Text</a>]
</p>
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<a id="8" class="mim-anchor"></a>
<a id="Gitzelmann1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gitzelmann, R., Wiesmann, U. N., Spycher, M. A., Herschkowitz, N., Giedion, A.
<strong>Unusually mild course of beta-glucuronidase deficiency in two brothers (mucopolysaccharidosis VII).</strong>
Helv. Paediat. Acta 33: 413-428, 1978.
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</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Glaser1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Glaser, J. H., Sly, W. S.
<strong>Beta-glucuronidase deficiency mucopolysaccharidosis: methods for enzymatic diagnosis.</strong>
J. Lab. Clin. Med. 82: 969-977, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4202279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4202279</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4202279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<li>
<a id="10" class="mim-anchor"></a>
<a id="Guibaud1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Guibaud, P., Maire, I., Goddon, R., Teyssier, G., Zabot, M. T., Mandon, G.
<strong>Mucopolysaccharidose type VII par deficit en beta-glucuronidase: etude d'une famille.</strong>
J. Genet. Hum. 27: 29-43, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/113502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">113502</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=113502" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<li>
<a id="11" class="mim-anchor"></a>
<a id="Harmatz2018" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Harmatz, P., Whitley, C. B., Wang, R. Y., Bauer, M., Song, S., Haller, C., Kakkis, E.
<strong>A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease.</strong>
Molec. Genet. Metab. 123: 488-494, 2018.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29478819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29478819</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29478819" 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.2018.02.006" target="_blank">Full Text</a>]
</p>
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</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Hoyme1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hoyme, H. E., Jones, K. L., Higginbottom, M. C., O'Brien, J. S.
<strong>Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy.</strong>
J. Med. Genet. 18: 237-239, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6787203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6787203</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6787203" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.18.3.237" target="_blank">Full Text</a>]
</p>
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<a id="13" class="mim-anchor"></a>
<a id="Kagie1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kagie, M. J., Kleijer, W. J., Huijmans, J. G. M., Maaswinkel-Mooy, P., Kanhai, H. H. H.
<strong>Beta-glucuronidase deficiency as a cause of fetal hydrops.</strong>
Am. J. Med. Genet. 42: 693-695, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1632440/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1632440</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1632440" 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.1320420513" target="_blank">Full Text</a>]
</p>
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<a id="14" 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.
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[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>
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<a id="15" class="mim-anchor"></a>
<a id="Lee1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lee, J. E. S., Falk, R. E., Ng, W. G., Donnell, G. N.
<strong>Beta-glucuronidase deficiency: a heterogenous mucopolysaccharidosis.</strong>
Am. J. Dis. Child. 139: 57-59, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3155909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3155909</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3155909" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archpedi.1985.02140030059029" target="_blank">Full Text</a>]
</p>
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<a id="Lissens1991" class="mim-anchor"></a>
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Lissens, W., Dedobbeleer, G., Foulon, W., De Catte, L., Charels, K., Goossens, A., Liebaers, I.
<strong>Beta-glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis.</strong>
Prenatal Diag. 11: 405-410, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1833732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1833732</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1833732" 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.1970110612" target="_blank">Full Text</a>]
</p>
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<a id="Montano2016" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Montano, A. M., Lock-Hock, N., Steiner, R. D., Graham, B. H., Szlago, M., Greenstein, R., Pineda, M., Gonzalez-Meneses, A., Coker, M., Bartholomew, D., Sands, M. S., Wang, R., and 16 others.
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[<a href="https://doi.org/10.1136/jmedgenet-2015-103322" target="_blank">Full Text</a>]
</p>
</div>
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<a id="18" class="mim-anchor"></a>
<a id="Nelson1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Nelson, A., Peterson, L., Frampton, B., Sly, W. S.
<strong>Mucopolysaccharidosis VII (beta-glucuronidase deficiency) presenting as nonimmune hydrops fetalis.</strong>
J. Pediat. 101: 574-576, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6811712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6811712</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6811712" 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(82)80707-5" target="_blank">Full Text</a>]
</p>
</div>
</li>
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<a id="19" class="mim-anchor"></a>
<a id="Peterson1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Peterson, L., Parkin, J., Nelson, A.
<strong>Mucopolysaccharidosis type VII: a morphologic, cytochemical, and ultrastructural study of the blood and bone marrow.</strong>
Am. J. Clin. Path. 78: 544-548, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6814236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6814236</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6814236" 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/ajcp/78.4.544" target="_blank">Full Text</a>]
</p>
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<a id="20" class="mim-anchor"></a>
<a id="Pfeiffer1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pfeiffer, R. A., Kresse, H., Baumer, N., Sattinger, E.
<strong>Beta-glucuronidase deficiency in a girl with unusual clinical features.</strong>
Europ. J. Pediat. 126: 155-161, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/144057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">144057</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=144057" 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/BF00442197" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="Sewell1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sewell, A. C., Gehler, J., Mittermaier, G., Meyer, E.
<strong>Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a report of a new case and a survey of those in the literature.</strong>
Clin. Genet. 21: 366-373, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6813001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6813001</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6813001" 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.1399-0004.1982.tb01389.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Shipley1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Shipley, J. M., Klinkenberg, M., Wu, B. M., Bachinsky, D. R., Grubb, J. H., Sly, W. S.
<strong>Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.</strong>
Am. J. Hum. Genet. 52: 517-526, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7680524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7680524</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7680524" 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="23" class="mim-anchor"></a>
<a id="Sly1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sly, W. S., Brot, F. E., Glaser, J. H., Stahl, P. D., Quinton, B. A., Rimoin, D. L., McAlister, W. H.
<strong>Beta-glucuronidase deficiency mucopolysaccharidosis. In: Bergsma, D.: Skeletal Dysplasias.</strong>
Amsterdam: Excerpta Medica (pub.) 1974. Pp. 239-245.
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Sly1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sly, W. S., Quinton, B. A., McAlister, W. H., Rimoin, D. L.
<strong>Beta-glucuronidase deficiency: report of clinical, radiologic and biochemical features of a new mucopolysaccharidosis.</strong>
J. Pediat. 82: 249-257, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4265197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4265197</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4265197" 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(73)80162-3" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="25" class="mim-anchor"></a>
<a id="Stangenberg1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Stangenberg, M., Lingman, G., Roberts, G., Ozand, P.
<strong>Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy.</strong>
Am. J. Med. Genet. 44: 142-144, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1456282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1456282</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1456282" 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.1320440205" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="26" class="mim-anchor"></a>
<a id="Storch2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Storch, S., Wittenstein, B., Islam, R., Ullrich, K., Sly, W. S., Braulke, T.
<strong>Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.</strong>
Hum. Genet. 112: 190-194, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522561</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12522561" 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/s00439-002-0849-5" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="27" class="mim-anchor"></a>
<a id="Tomatsu1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tomatsu, S., Fukuda, S., Sukegawa, K., Ikedo, Y., Yamada, S., Yamada, Y., Sasaki, T., Okamoto, H., Kuwahara, T., Yamaguchi, S., Kiman, T., Shintaku, H., Isshiki, G., Orii, T.
<strong>Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.</strong>
Am. J. Hum. Genet. 48: 89-96, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1702266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1702266</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1702266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="28" class="mim-anchor"></a>
<a id="Tomatsu2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tomatsu, S., Orii, K. O., Vogler, C., Grubb, J. H., Snella, E. M., Gutierrez, M. A., Dieter, T., Sukegawa, K., Orii, T., Kondo, N., Sly, W. S.
<strong>Missense models [Gus(tm(E536A)Sly), Gus(tm(E536Q)Sly), and Gus(tm(L175F)Sly)] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.</strong>
Proc. Nat. Acad. Sci. 99: 14982-14987, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12403825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12403825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12403825[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=12403825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.232570999" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="29" class="mim-anchor"></a>
<a id="van Dorpe1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
van Dorpe, J., Moerman, P., Pecceu, A., van den Steen, P., Fryns, J. P.
<strong>Non-immune hydrops fetalis caused by beta-glucuronidase deficiency (mucopolysaccharidosis VII): study of a family with 3 affected siblings.</strong>
Genet. Counsel. 7: 105-112, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8831129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8831129</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8831129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="30" class="mim-anchor"></a>
<a id="van Eyndhoven1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
van Eyndhoven, H. W. F., ter Brugge, H. G., van Essen, A. J., Kleijer, W. J.
<strong>Beta-glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling.</strong>
Prenatal Diag. 18: 959-962, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9793981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9793981</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9793981" 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)1097-0223(199809)18:9&lt;959::aid-pd372&gt;3.0.co;2-i" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="31" class="mim-anchor"></a>
<a id="Vervoort1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Vervoort, R., Buist, N. R. M., Kleijer, W. J., Wevers, R., Fryns, J.-P., Liebaers, I., Lissens, W.
<strong>Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.</strong>
Hum. Genet. 99: 462-468, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9099834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9099834</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9099834" 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/s004390050389" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="32" class="mim-anchor"></a>
<a id="Vervoort1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Vervoort, R., Islam, M. R., Sly, W. S., Zabot, M.-T., Kleijer, W. J., Chabas, A., Fensom, A., Young, E. P., Liebaers, I., Lissens, W.
<strong>Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.</strong>
Am. J. Hum. Genet. 58: 457-471, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644704</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644704" 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="33" class="mim-anchor"></a>
<a id="Walter-Nicolet2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Walter-Nicolet, E., Rakza, T., Storme, L., Vaillant, C., Magnenant, E., Cremer, R., Thumerelle, C., Dobbelaere, D.
<strong>A new case of mucopolysaccharidosis VII presenting as non immune hydrops fetalis.</strong>
Europ. J. Pediat. 162: 520-521, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12748853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12748853</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12748853" 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/s00431-003-1198-7" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="34" class="mim-anchor"></a>
<a id="Yamada1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yamada, Y., Kato, K., Sukegawa, K., Tomatsu, S., Fukuda, S., Emura, S., Kojima, S., Matsuyama, T., Sly, W. S., Kondo, N., Orii, T.
<strong>Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation.</strong>
Bone Marrow Transplant. 21: 629-634, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9543069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9543069</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9543069" 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/sj.bmt.1701141" target="_blank">Full Text</a>]
</p>
</div>
</li>
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<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>Cassandra L. Kniffin - updated : 11/08/2017<br>Cassandra L. Kniffin - reorganized : 10/10/2007<br>Cassandra L. Kniffin - updated : 10/5/2007<br>Victor A. McKusick - updated : 4/21/2004<br>Natalie E. Krasikov - updated : 3/29/2004<br>Victor A. McKusick - updated : 8/20/2003<br>Victor A. McKusick - updated : 6/12/2003<br>Victor A. McKusick - updated : 1/23/2003<br>Victor A. McKusick - updated : 1/22/2003<br>Victor A. McKusick - updated : 12/4/2002<br>Victor A. McKusick - updated : 6/10/2002<br>Ada Hamosh - updated : 4/26/2001<br>Victor A. McKusick - updated : 3/12/2001<br>Victor A. McKusick - updated : 6/16/1999<br>Victor A. McKusick - updated : 3/23/1999<br>Victor A. McKusick - updated : 3/2/1999<br>Victor A. McKusick - updated : 1/20/1999<br>Ada Hamosh - updated : 6/16/1998<br>Victor A. McKusick - updated : 5/12/1998<br>Victor A. McKusick - updated : 4/16/1998<br>Victor A. McKusick - updated : 5/27/1997<br>Victor A. McKusick - updated : 5/16/1997<br>Moyra Smith - updated : 4/15/1996
</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>
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</div>
<div>
<a id="editHistory" class="mim-anchor"></a>
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carol : 12/14/2023
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<span class="mim-text-font">
carol : 04/30/2020<br>alopez : 05/29/2018<br>carol : 11/13/2017<br>carol : 11/10/2017<br>ckniffin : 11/08/2017<br>carol : 02/12/2014<br>mcolton : 2/12/2014<br>mgross : 6/8/2011<br>terry : 6/1/2011<br>terry : 4/21/2011<br>carol : 11/30/2007<br>carol : 10/10/2007<br>ckniffin : 10/5/2007<br>tkritzer : 4/26/2004<br>terry : 4/21/2004<br>tkritzer : 4/1/2004<br>tkritzer : 3/31/2004<br>terry : 3/29/2004<br>alopez : 3/17/2004<br>tkritzer : 8/25/2003<br>terry : 8/20/2003<br>tkritzer : 6/20/2003<br>terry : 6/12/2003<br>tkritzer : 5/8/2003<br>carol : 4/4/2003<br>carol : 1/30/2003<br>tkritzer : 1/27/2003<br>terry : 1/23/2003<br>tkritzer : 1/22/2003<br>carol : 12/10/2002<br>tkritzer : 12/9/2002<br>terry : 12/4/2002<br>mgross : 6/10/2002<br>mgross : 6/10/2002<br>mgross : 6/10/2002<br>alopez : 5/8/2001<br>terry : 4/26/2001<br>terry : 4/26/2001<br>mcapotos : 3/30/2001<br>mcapotos : 3/20/2001<br>terry : 3/12/2001<br>jlewis : 7/8/1999<br>terry : 6/16/1999<br>mgross : 4/7/1999<br>mgross : 4/7/1999<br>carol : 4/2/1999<br>terry : 3/23/1999<br>carol : 3/4/1999<br>terry : 3/2/1999<br>carol : 2/1/1999<br>carol : 2/1/1999<br>carol : 1/29/1999<br>terry : 1/20/1999<br>dkim : 7/24/1998<br>alopez : 6/16/1998<br>carol : 5/21/1998<br>terry : 5/12/1998<br>carol : 5/2/1998<br>terry : 4/16/1998<br>mark : 6/2/1997<br>mark : 5/30/1997<br>jenny : 5/30/1997<br>terry : 5/27/1997<br>terry : 5/16/1997<br>terry : 11/6/1996<br>carol : 5/21/1996<br>mark : 4/15/1996<br>terry : 4/15/1996<br>mark : 4/15/1996<br>mark : 3/6/1996<br>terry : 3/4/1996<br>terry : 10/20/1995<br>mark : 10/9/1995<br>jason : 7/12/1994<br>davew : 6/3/1994<br>mimadm : 4/14/1994<br>carol : 12/15/1993
</span>
</div>
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</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> 253220
</span>
</h3>
</div>
<div>
<h3>
<span class="mim-font">
MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7
</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">
MPS VII<br />
SLY SYNDROME<br />
BETA-GLUCURONIDASE DEFICIENCY<br />
GUSB DEFICIENCY
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<p>
<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 124470009, 43916004; &nbsp;
<strong>ICD10CM:</strong> E76.29; &nbsp;
<strong>ORPHA:</strong> 584; &nbsp;
<strong>DO:</strong> 12803; &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">
7q11.21
</span>
</td>
<td>
<span class="mim-font">
Mucopolysaccharidosis VII
</span>
</td>
<td>
<span class="mim-font">
253220
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
GUSB
</span>
</td>
<td>
<span class="mim-font">
611499
</span>
</td>
</tr>
</tbody>
</table>
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<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 VII (MPS7) is caused by homozygous or compound heterozygous mutation in the gene encoding beta-glucuronidase (GUSB; 611499) on chromosome 7q11.</p>
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<div>
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<div>
<h4>
<span class="mim-font">
<strong>Description</strong>
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</h4>
</div>
<span class="mim-text-font">
<p>Mucopolysaccharidosis type VII (MPS7) is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved. </p>
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<div>
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<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
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</h4>
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<span class="mim-text-font">
<p>Sly et al. (1973) reported a boy with skeletal changes consistent with a mucopolysaccharidosis, hepatosplenomegaly, and granular inclusions in granulocytes. He had hernias, unusual facies, protruding sternum, thoracolumbar gibbus, vertebral deformities, and mental deficiency. Fibroblasts demonstrated deficiency of beta-glucuronidase activity, at less than 2% of control values. Both parents and several sibs of the mother showed an intermediate level of the enzyme. Shipley et al. (1993) provided follow-up of the patient reported by Sly et al. (1973). Additional features included cardiac valvular anomalies and progressive skeletal deformities of the thorax, spine, hip, and knee joints. He died suddenly at age 19 years, possibly of a cardiac arrhythmia. </p><p>Gitzelmann et al. (1978) described 2 brothers in whom MPS VII was unusually mild. Asymptomatic thoracic kyphosis and mild scoliosis were the main clinical features. Hernia, hepatosplenomegaly, corneal clouding, and dwarfing were absent. Radiologic signs were mild, confined to the spine, and consisted of irregularities of upper and lower vertebral plates, of vertebral flattening and some osteophytic changes. Both patients excreted excessive amounts of acid mucopolysaccharides in urine. Both had granulations in polymorphonuclear cells and to a lesser degree in monocytes. Cultured skin fibroblasts also had metachromatic granules; they showed about 10% of normal beta-glucuronidase activity. The older brother, aged 19 years, was the oldest known case. </p><p>Sewell et al. (1982) reported a 6-year-old Turkish girl with MPS VII who presented in infancy with facial asymmetry, deformed feet, and delayed motor development. At age 5 years, she had disproportionate dwarfism, sternal protrusion, kyphosis, scoliosis, and hypertrichosis. She had a small umbilical hernia and mild liver enlargement. Motor function was normal, but speech was delayed. Radiographic examination showed widening of the iliac wings and broad ribs. Beta-glucuronidase activity in serum was essentially absent, but was 5.6% of control values in cultured fibroblasts. In a review of reported cases, Sewell et al. (1982) suggested that MPS VII comprises 3 main clinical groups: an early severe lethal form (Beaudet et al., 1975); an 'intermediate' form with slight organomegaly and moderate skeletal anomalies (the patient reported by Sewell et al., 1982); and a very mild form in which patients present later and show longer survival (Gitzelmann et al., 1978). </p><p>Pfeiffer et al. (1977) reported a girl with a mild form of MPS VII. Storch et al. (2003) provided a detailed clinical follow-up of this girl. The disorder was first diagnosed at the age of 7 years based on the clinical features of short stature, mild craniofacial dysmorphism, corneal opacity, a broad-based gait, and mild mental retardation. X-ray evaluation showed signs of dysostosis multiplex. Urinary excretion of total glycosaminoglycans was increased and consisted of dermatan, chondroitin, and heparan sulfate. Decreased beta-glucuronidase activity was found in serum, lymphocytes, and cultured skin fibroblasts. The patient completed her schooling for the mentally retarded and worked in her parents' business as a switchboard operator. By the age of 34 years, spasticity, especially of the upper limbs, had increased. Cervical MRI and CT scans showed a dense pseudoarthrosis with odontoid dysplasia, a hypoplastic atlantal arch, and narrowed intervertebral foramina in segments C2-C4. Anterior, and especially posterior, ligamentous structures in segments C1-C3 were thickened and caused spinal cord compression with central signal hypodensities. Surgical relief of the spinal cord compression was performed. At the age of 37 years, the patient was 146 cm tall and showed macrocephaly, mild facial dysmorphism, macroglossia, and prognathia. Corneal opacity was mild and had not progressed since the age of 5 years; hearing was normal. She also had sternal protrusion, thoracolumbar scoliosis, lumbar lordosis, and contractions of the large joints. Neurologic examination showed spastic tetraplegia with hyperactive deep tendon reflexes and positive Babinski signs. The patient died unexpectedly at the age of 37 years, presumably as a consequence of cardiac arrest. In this patient, Storch et al. (2003) identified compound heterozygosity for 2 mutations in the GUSB gene (611499.0013; 611499.0014). </p><p>Stangenberg et al. (1992) and de Kremer et al. (1992) described phenotypic extremes in beta-glucuronidase deficiency: a case with fetal hydrops presenting at 18 weeks' gestation and a chronic oligosymptomatic variant in a 20-year-old male with severe skeletal dysplasia, respectively. In the former case the parents were first cousins and there had been 2 previous similar fetal deaths. In the latter case there was no hepatosplenomegaly, hernia, corneal clouding, or neurologic abnormalities. Although the patient had Alder-type granulations in his polymorphonuclear leukocytes, the urine did not contain a significant excess of mucopolysaccharides. The most striking changes of spondyloepiphyseal dysplasia were in the thoracic spine, with flattening and collapse in T7, T8, and T10 vertebral bodies, and in the femoral capital epiphyses, which showed irregularities and fragmentation. </p><p>Walter-Nicolet et al. (2003) described a 1-year-old Algerian girl with MPS VII, born to consanguineous parents, who presented with nonimmune hydrops fetalis. She had facial dysmorphism, hepatosplenomegaly, and hypertrophic cardiomyopathy. The mother, aged 27, had experienced 2 unexplained spontaneous abortions at 18 and 12 weeks of gestation. Hydrops fetalis was discovered at 20 weeks' gestation with ascites, bilateral pleural effusion, and hydramnios. Brain ultrasound scan showed a moderate bilateral hydrocephalus confirmed by cerebral MRI. Clinical features noted at birth included facial dysmorphism with coarsened facies, hypertelorism, epicanthus, anti-mongoloid eyelids, short nose with anteversion of the nostrils; pterygium colli; and hepatosplenomegaly. Axial hypotonia and peripheral hypertonia were present. Echocardiography showed moderate hypertrophic cardiomyopathy. Brain ultrasound scan showed moderate ventricular dilatation at 9 and 11 mm with normal brain morphology. Skeletal radiography was normal. </p><p>Montano et al. (2016) collected clinical information on 56 patients from 11 countries with MPS VII in order to assess the phenotype. Ten patients had neonatal nonimmune hydrops fetalis (NIHF), 13 had an infantile or adolescent form of the disorder with a history of hydrops fetalis, and 33 had an infantile or adolescent form without known hydrops fetalis. Twenty (36%) were confirmed to have died. The patients had a wide range of clinical manifestations from mild to severe. Patients with mild or moderate manifestations had coarse facial features, corneal clouding, frequent upper respiratory infections, and milder skeletal abnormalities. Patients with more severe phenotypes showed short stature and greater skeletal dysplasia, macrocephaly, recurrent ear infections, gingival hypertrophy, hepatosplenomegaly, hernias, and cognitive impairment. Other common features included valvular heart disease, cardiomyopathy, and compromised respiratory function associated with recurrent infections and structural chest abnormalities. The presence of NIHF did not predict the severity of the disease course if the patient survived infancy. Five patients underwent bone marrow transplantation and 1 patient underwent enzyme replacement therapy with recombinant human GUS. </p>
</span>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Biochemical Features</strong>
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</h4>
</div>
<span class="mim-text-font">
<p>By immunoassay, Bell et al. (1977) identified cross-reactive antigen in cultured fibroblasts from 4 unrelated patients with deficiency of beta-glucuronidase activity. Titration patterns suggested allelic heterogeneity. </p>
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<div>
<h4>
<span class="mim-font">
<strong>Diagnosis</strong>
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</h4>
</div>
<span class="mim-text-font">
<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
Lissens et al. (1991) described a case of beta-glucuronidase deficiency presenting as nonimmune hydrops fetalis diagnosed at 26 weeks of gestation. The deficiency was disclosed on cultured amniotic fluid cells and in fetal plasma and was confirmed post-abortion. In a second pregnancy, a normal beta-glucuronidase activity was found in extracts of chorionic villi obtained at 10 weeks of gestation. </p><p>Kagie et al. (1992) demonstrated beta-glucuronidase deficiency as a cause of hydrops fetalis by study of the amniotic fluid obtained at 25 weeks' gestation. </p><p>Van Eyndhoven et al. (1998) diagnosed beta-glucuronidase deficiency as the cause of nonimmune hydrops fetalis by enzymatic assay of chorionic villi. In their patient, hydrops fetalis had occurred in 2 previous pregnancies. Chorionic villus sampling performed in the eleventh week of the subsequent pregnancy indicated that the fetus was affected. After termination in the twelfth week, signs of early hydrops fetalis were observed. </p><p>Van Dorpe et al. (1996) described a family in which 3 consecutive fetuses were affected. Striking ascites and fetal hydrops were noted in the first fetus, and the pregnancy was terminated. Microscopic study revealed prominently vacuolated Hofbauer cells in the placenta and foamy macrophages in liver, spleen, bone marrow, and other organs. Greatly reduced activity of beta-glucuronidase in cultured skin fibroblasts confirmed the diagnosis of MPS VII. Edema of the neck and back in the next pregnancy led to a presumptive diagnosis of MPS VII, which was confirmed by the finding of very low enzyme activity in chorionic villus cells. The morphologic manifestations were the same in all 3 cases. Van Dorpe et al. (1996) emphasized the significance of morphologic examination of the fetus and placenta for the diagnosis of MPS VII. </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<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 (see 253000) accounted for 15%, 16%, and 10%, respectively. MPS VI (253200) and VII 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>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Management</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Yamada et al. (1998) reported that allogeneic bone marrow transplant in a 12-year-old Japanese girl with MPS VII resulted in improved motor function and activities of daily living, decreased upper respiratory and ear infections, but no improvement in cognitive function. </p><p>Harmatz et al. (2018) reported a phase 3 interventional clinical trial of vestronidase alfa (recombinant human beta-glucuronidase) in 12 individuals with MPS VII. Using a Blind Start approach with 4 cohorts, they found that all patients had a significant decrease in urinary glycosaminoglycan excretion, 10 of 12 patients had at least one clinically meaningful improvement in a Multi-Domain Responder Index used to evaluate change in a series of clinical endpoints, and 9 of 12 patients improved over base line in fatigue at some point during the study, although the improvement in fatigue did not reach statistical significance. Safety endpoints were similar between groups. </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of MPS7 in the patients reported by Tomatsu et al. (1991) was consistent with autosomal recessive inheritance. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 2 unrelated Japanese patients with MPS VII, Tomatsu et al. (1991) identified 2 different homozygous mutations in the GUSB gene (611499.0001 and 611499.0002, respectively). </p><p>Using RT-PCR-SSCP and direct sequencing to screen for mutations in the GUSB cDNA, Vervoort et al. (1996) studied 17 MPS VII patients with hydrops fetalis or early and severe clinical presentation. In addition to 6 of 12 previously reported mutations, they detected 14 novel mutations. The mutations in hydropic fetuses were widely scattered in the GUSB gene. Analysis of 3 polymorphic sites in the mutant alleles allowed exclusion of identity by descent for some recurrent mutations. </p><p>Vervoort et al. (1997) identified 5 novel mutations in the GUSB gene in 5 MPS VII patients. Four patients presented with hydrops fetalis and 1 with an early infantile form of the disorder. </p><p>Tomatsu et al. (2002) stated that more than 45 different mutations in the GUSB gene had been identified in patients with MPS VII, approximately 90% of which were point mutations. </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>See 611499 for information on animal models of MPS VII.</p>
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</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Beaudet et al. (1974); Brot et al. (1974); Danes and Degnan (1974);
Gehler et al. (1974); Glaser and Sly (1973); Guibaud et al. (1979);
Hoyme et al. (1981); Lee et al. (1985); Nelson et al. (1982);
Peterson et al. (1982); Sly et al. (1974)
</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">
Beaudet, A. L., DiFerrante, N. M., Ferry, G. D., Nichols, B. L., Jr., Mullins, C. E.
<strong>Variation in the phenotype expression of beta-glucuronidase deficiency.</strong>
J. Pediat. 86: 388-394, 1975.
[PubMed: 803560]
[Full Text: https://doi.org/10.1016/s0022-3476(75)80968-1]
</p>
</li>
<li>
<p class="mim-text-font">
Beaudet, A. L., DiFerrante, N. M., Ferry, G. D., Nichols, B. L., Jr.
<strong>Beta-glucuronidase deficiency (mucopolysaccharidosis type VII). In: Bergsma, D.: Skeletal Dysplasias.</strong>
Amsterdam: Excerpta Medica (pub.) 1974. Pp. 246-250.
</p>
</li>
<li>
<p class="mim-text-font">
Bell, C. E., Jr., Sly, W. S., Brot, F. E.
<strong>Human beta-glucuronidase deficiency mucopolysaccharidosis: identification of cross-reactive antigen in cultured fibroblasts of deficient patients by enzyme immunoassay.</strong>
J. Clin. Invest. 59: 97-105, 1977.
[PubMed: 401508]
[Full Text: https://doi.org/10.1172/JCI108627]
</p>
</li>
<li>
<p class="mim-text-font">
Brot, F. E., Glaser, J. H., Roozen, K. J., Sly, W. S.
<strong>In vitro correction of deficient human fibroblast by beta-glucuronidase from different human sources.</strong>
Biochem. Biophys. Res. Commun. 57: 1-8, 1974.
[PubMed: 4857181]
[Full Text: https://doi.org/10.1016/s0006-291x(74)80349-9]
</p>
</li>
<li>
<p class="mim-text-font">
Danes, B. S., Degnan, M.
<strong>Different clinical and biochemical phenotypes associated with beta-glucuronidase deficiency. In: Bergsma, D.: Skeletal Dysplasias.</strong>
Amsterdam: Excerpta Medica (pub.) 1974. Pp. 251-257.
</p>
</li>
<li>
<p class="mim-text-font">
de Kremer, R. D., Givogri, I., Argarana, C. E., Hliba, E., Conci, R., Boldini, C. D., Capra, A. P.
<strong>Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a chronic variant with an oligosymptomatic severe skeletal dysplasia.</strong>
Am. J. Med. Genet. 44: 145-152, 1992.
[PubMed: 1456283]
[Full Text: https://doi.org/10.1002/ajmg.1320440206]
</p>
</li>
<li>
<p class="mim-text-font">
Gehler, J., Cantz, M., Tolksdorf, M., Spranger, J. W.
<strong>Mucopolysaccharidosis VII: beta-glucuronidase deficiency.</strong>
Humangenetik 23: 149-158, 1974.
[PubMed: 4277583]
[Full Text: https://doi.org/10.1007/BF00282212]
</p>
</li>
<li>
<p class="mim-text-font">
Gitzelmann, R., Wiesmann, U. N., Spycher, M. A., Herschkowitz, N., Giedion, A.
<strong>Unusually mild course of beta-glucuronidase deficiency in two brothers (mucopolysaccharidosis VII).</strong>
Helv. Paediat. Acta 33: 413-428, 1978.
[PubMed: 101485]
</p>
</li>
<li>
<p class="mim-text-font">
Glaser, J. H., Sly, W. S.
<strong>Beta-glucuronidase deficiency mucopolysaccharidosis: methods for enzymatic diagnosis.</strong>
J. Lab. Clin. Med. 82: 969-977, 1973.
[PubMed: 4202279]
</p>
</li>
<li>
<p class="mim-text-font">
Guibaud, P., Maire, I., Goddon, R., Teyssier, G., Zabot, M. T., Mandon, G.
<strong>Mucopolysaccharidose type VII par deficit en beta-glucuronidase: etude d&#x27;une famille.</strong>
J. Genet. Hum. 27: 29-43, 1979.
[PubMed: 113502]
</p>
</li>
<li>
<p class="mim-text-font">
Harmatz, P., Whitley, C. B., Wang, R. Y., Bauer, M., Song, S., Haller, C., Kakkis, E.
<strong>A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease.</strong>
Molec. Genet. Metab. 123: 488-494, 2018.
[PubMed: 29478819]
[Full Text: https://doi.org/10.1016/j.ymgme.2018.02.006]
</p>
</li>
<li>
<p class="mim-text-font">
Hoyme, H. E., Jones, K. L., Higginbottom, M. C., O'Brien, J. S.
<strong>Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy.</strong>
J. Med. Genet. 18: 237-239, 1981.
[PubMed: 6787203]
[Full Text: https://doi.org/10.1136/jmg.18.3.237]
</p>
</li>
<li>
<p class="mim-text-font">
Kagie, M. J., Kleijer, W. J., Huijmans, J. G. M., Maaswinkel-Mooy, P., Kanhai, H. H. H.
<strong>Beta-glucuronidase deficiency as a cause of fetal hydrops.</strong>
Am. J. Med. Genet. 42: 693-695, 1992.
[PubMed: 1632440]
[Full Text: https://doi.org/10.1002/ajmg.1320420513]
</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">
Lee, J. E. S., Falk, R. E., Ng, W. G., Donnell, G. N.
<strong>Beta-glucuronidase deficiency: a heterogenous mucopolysaccharidosis.</strong>
Am. J. Dis. Child. 139: 57-59, 1985.
[PubMed: 3155909]
[Full Text: https://doi.org/10.1001/archpedi.1985.02140030059029]
</p>
</li>
<li>
<p class="mim-text-font">
Lissens, W., Dedobbeleer, G., Foulon, W., De Catte, L., Charels, K., Goossens, A., Liebaers, I.
<strong>Beta-glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis.</strong>
Prenatal Diag. 11: 405-410, 1991.
[PubMed: 1833732]
[Full Text: https://doi.org/10.1002/pd.1970110612]
</p>
</li>
<li>
<p class="mim-text-font">
Montano, A. M., Lock-Hock, N., Steiner, R. D., Graham, B. H., Szlago, M., Greenstein, R., Pineda, M., Gonzalez-Meneses, A., Coker, M., Bartholomew, D., Sands, M. S., Wang, R., and 16 others.
<strong>Clinical course of Sly syndrome (mucopolysaccharidosis type VII).</strong>
J. Med. Genet. 53: 403-418, 2016.
[PubMed: 26908836]
[Full Text: https://doi.org/10.1136/jmedgenet-2015-103322]
</p>
</li>
<li>
<p class="mim-text-font">
Nelson, A., Peterson, L., Frampton, B., Sly, W. S.
<strong>Mucopolysaccharidosis VII (beta-glucuronidase deficiency) presenting as nonimmune hydrops fetalis.</strong>
J. Pediat. 101: 574-576, 1982.
[PubMed: 6811712]
[Full Text: https://doi.org/10.1016/s0022-3476(82)80707-5]
</p>
</li>
<li>
<p class="mim-text-font">
Peterson, L., Parkin, J., Nelson, A.
<strong>Mucopolysaccharidosis type VII: a morphologic, cytochemical, and ultrastructural study of the blood and bone marrow.</strong>
Am. J. Clin. Path. 78: 544-548, 1982.
[PubMed: 6814236]
[Full Text: https://doi.org/10.1093/ajcp/78.4.544]
</p>
</li>
<li>
<p class="mim-text-font">
Pfeiffer, R. A., Kresse, H., Baumer, N., Sattinger, E.
<strong>Beta-glucuronidase deficiency in a girl with unusual clinical features.</strong>
Europ. J. Pediat. 126: 155-161, 1977.
[PubMed: 144057]
[Full Text: https://doi.org/10.1007/BF00442197]
</p>
</li>
<li>
<p class="mim-text-font">
Sewell, A. C., Gehler, J., Mittermaier, G., Meyer, E.
<strong>Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a report of a new case and a survey of those in the literature.</strong>
Clin. Genet. 21: 366-373, 1982.
[PubMed: 6813001]
[Full Text: https://doi.org/10.1111/j.1399-0004.1982.tb01389.x]
</p>
</li>
<li>
<p class="mim-text-font">
Shipley, J. M., Klinkenberg, M., Wu, B. M., Bachinsky, D. R., Grubb, J. H., Sly, W. S.
<strong>Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.</strong>
Am. J. Hum. Genet. 52: 517-526, 1993.
[PubMed: 7680524]
</p>
</li>
<li>
<p class="mim-text-font">
Sly, W. S., Brot, F. E., Glaser, J. H., Stahl, P. D., Quinton, B. A., Rimoin, D. L., McAlister, W. H.
<strong>Beta-glucuronidase deficiency mucopolysaccharidosis. In: Bergsma, D.: Skeletal Dysplasias.</strong>
Amsterdam: Excerpta Medica (pub.) 1974. Pp. 239-245.
</p>
</li>
<li>
<p class="mim-text-font">
Sly, W. S., Quinton, B. A., McAlister, W. H., Rimoin, D. L.
<strong>Beta-glucuronidase deficiency: report of clinical, radiologic and biochemical features of a new mucopolysaccharidosis.</strong>
J. Pediat. 82: 249-257, 1973.
[PubMed: 4265197]
[Full Text: https://doi.org/10.1016/s0022-3476(73)80162-3]
</p>
</li>
<li>
<p class="mim-text-font">
Stangenberg, M., Lingman, G., Roberts, G., Ozand, P.
<strong>Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy.</strong>
Am. J. Med. Genet. 44: 142-144, 1992.
[PubMed: 1456282]
[Full Text: https://doi.org/10.1002/ajmg.1320440205]
</p>
</li>
<li>
<p class="mim-text-font">
Storch, S., Wittenstein, B., Islam, R., Ullrich, K., Sly, W. S., Braulke, T.
<strong>Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.</strong>
Hum. Genet. 112: 190-194, 2003.
[PubMed: 12522561]
[Full Text: https://doi.org/10.1007/s00439-002-0849-5]
</p>
</li>
<li>
<p class="mim-text-font">
Tomatsu, S., Fukuda, S., Sukegawa, K., Ikedo, Y., Yamada, S., Yamada, Y., Sasaki, T., Okamoto, H., Kuwahara, T., Yamaguchi, S., Kiman, T., Shintaku, H., Isshiki, G., Orii, T.
<strong>Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.</strong>
Am. J. Hum. Genet. 48: 89-96, 1991.
[PubMed: 1702266]
</p>
</li>
<li>
<p class="mim-text-font">
Tomatsu, S., Orii, K. O., Vogler, C., Grubb, J. H., Snella, E. M., Gutierrez, M. A., Dieter, T., Sukegawa, K., Orii, T., Kondo, N., Sly, W. S.
<strong>Missense models [Gus(tm(E536A)Sly), Gus(tm(E536Q)Sly), and Gus(tm(L175F)Sly)] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.</strong>
Proc. Nat. Acad. Sci. 99: 14982-14987, 2002.
[PubMed: 12403825]
[Full Text: https://doi.org/10.1073/pnas.232570999]
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</li>
<li>
<p class="mim-text-font">
van Dorpe, J., Moerman, P., Pecceu, A., van den Steen, P., Fryns, J. P.
<strong>Non-immune hydrops fetalis caused by beta-glucuronidase deficiency (mucopolysaccharidosis VII): study of a family with 3 affected siblings.</strong>
Genet. Counsel. 7: 105-112, 1996.
[PubMed: 8831129]
</p>
</li>
<li>
<p class="mim-text-font">
van Eyndhoven, H. W. F., ter Brugge, H. G., van Essen, A. J., Kleijer, W. J.
<strong>Beta-glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling.</strong>
Prenatal Diag. 18: 959-962, 1998.
[PubMed: 9793981]
[Full Text: https://doi.org/10.1002/(sici)1097-0223(199809)18:9&lt;959::aid-pd372&gt;3.0.co;2-i]
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</li>
<li>
<p class="mim-text-font">
Vervoort, R., Buist, N. R. M., Kleijer, W. J., Wevers, R., Fryns, J.-P., Liebaers, I., Lissens, W.
<strong>Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.</strong>
Hum. Genet. 99: 462-468, 1997.
[PubMed: 9099834]
[Full Text: https://doi.org/10.1007/s004390050389]
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</li>
<li>
<p class="mim-text-font">
Vervoort, R., Islam, M. R., Sly, W. S., Zabot, M.-T., Kleijer, W. J., Chabas, A., Fensom, A., Young, E. P., Liebaers, I., Lissens, W.
<strong>Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.</strong>
Am. J. Hum. Genet. 58: 457-471, 1996.
[PubMed: 8644704]
</p>
</li>
<li>
<p class="mim-text-font">
Walter-Nicolet, E., Rakza, T., Storme, L., Vaillant, C., Magnenant, E., Cremer, R., Thumerelle, C., Dobbelaere, D.
<strong>A new case of mucopolysaccharidosis VII presenting as non immune hydrops fetalis.</strong>
Europ. J. Pediat. 162: 520-521, 2003.
[PubMed: 12748853]
[Full Text: https://doi.org/10.1007/s00431-003-1198-7]
</p>
</li>
<li>
<p class="mim-text-font">
Yamada, Y., Kato, K., Sukegawa, K., Tomatsu, S., Fukuda, S., Emura, S., Kojima, S., Matsuyama, T., Sly, W. S., Kondo, N., Orii, T.
<strong>Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation.</strong>
Bone Marrow Transplant. 21: 629-634, 1998.
[PubMed: 9543069]
[Full Text: https://doi.org/10.1038/sj.bmt.1701141]
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Hilary J. Vernon - updated : 04/30/2020<br>Ada Hamosh - updated : 05/29/2018<br>Cassandra L. Kniffin - updated : 11/08/2017<br>Cassandra L. Kniffin - reorganized : 10/10/2007<br>Cassandra L. Kniffin - updated : 10/5/2007<br>Victor A. McKusick - updated : 4/21/2004<br>Natalie E. Krasikov - updated : 3/29/2004<br>Victor A. McKusick - updated : 8/20/2003<br>Victor A. McKusick - updated : 6/12/2003<br>Victor A. McKusick - updated : 1/23/2003<br>Victor A. McKusick - updated : 1/22/2003<br>Victor A. McKusick - updated : 12/4/2002<br>Victor A. McKusick - updated : 6/10/2002<br>Ada Hamosh - updated : 4/26/2001<br>Victor A. McKusick - updated : 3/12/2001<br>Victor A. McKusick - updated : 6/16/1999<br>Victor A. McKusick - updated : 3/23/1999<br>Victor A. McKusick - updated : 3/2/1999<br>Victor A. McKusick - updated : 1/20/1999<br>Ada Hamosh - updated : 6/16/1998<br>Victor A. McKusick - updated : 5/12/1998<br>Victor A. McKusick - updated : 4/16/1998<br>Victor A. McKusick - updated : 5/27/1997<br>Victor A. McKusick - updated : 5/16/1997<br>Moyra Smith - updated : 4/15/1996
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Victor A. McKusick : 6/4/1986
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