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- #252930 - MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C
- OMIM
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<span class="h4">#252930</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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<li role="presentation">
<a href="/clinicalSynopsis/252930"><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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<li role="presentation" style="margin-left: 1em">
<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#diagnosis">Diagnosis</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population 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 IIIC" 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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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=653&Typ=Pat" title="Mucopolysaccharidosis type 3" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Mucopolysaccharidosis type…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11297&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Sanfilippo syndrome type C&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK546574/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=581" title="Mucopolysaccharidosis type 3" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Mucopolysaccharidosis type…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79271" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Sanfilippo syndrome type C</a></div>
</div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0111393" 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/252930" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:252930" 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> 75238000<br />
<strong>ICD10CM:</strong> E76.22<br />
<strong>ORPHA:</strong> 581, 79271<br />
<strong>DO:</strong> 0111393<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>
252930
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C
</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 IIIC<br />
SANFILIPPO SYNDROME C<br />
ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE 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/8/244?start=-3&limit=10&highlight=244">
8p11.21-p11.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Mucopolysaccharidosis type IIIC (Sanfilippo C)
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252930"> 252930 </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">
HGSNAT
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610453"> 610453 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/252930" 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/252930" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/252930" 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> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Normal stature (in most patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846844&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846844</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Coarse facies, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854832&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854832</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 /> -
Thickening of the helices <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837732&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837732</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000391" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000391</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">
- Clear corneas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854822</a>]</span><br /> -
Synophrys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253207002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253207002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431447&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431447</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000664" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000664</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000664" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000664</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d88a284723f3407bf387ee65da76603e" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Synophrys-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=d88a284723f3407bf387ee65da76603e&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 /> -
Retinitis pigmentosa (late-onset) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749540&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749540</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28835009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28835009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.52</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000510</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Fleshy nasal tip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749541</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">
- Everted lower lip <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/767502001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">767502001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853246&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853246</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000232" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000232</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000232" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000232</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Asymmetric septal hypertrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3495498&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3495498</a>, <a href="https://bioportal.bioontology.org/search?q=C0205700&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0205700</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001670</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001670</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Nasopharynx </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Frequent upper respiratory 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>
<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">
- Thickened ribs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249699000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249699000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426820&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426820</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000900" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000900</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000900" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000900</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hepatomegaly, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865189&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865189</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spleen </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Splenomegaly, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865190&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865190</a>]</span> <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">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Diarrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267060006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267060006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62315008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62315008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R19.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R19.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011991</a>, <a href="https://bioportal.bioontology.org/search?q=C2169706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2169706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span><br /> -
Dysphagia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/288939007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">288939007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40739000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40739000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/787.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</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, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854833&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854833</a>]</span> <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">[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">
- Dense calvaria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854834&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854834</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000250</a>]</span><br /> -
Dolichocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72239002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72239002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221358&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221358</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000268</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000268</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=b49d4ad3bcb5a39e5263c4f1d7454a3e" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Dolichocephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=b49d4ad3bcb5a39e5263c4f1d7454a3e&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> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Ovoid thoracolumbar vertebrae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868556&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868556</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003309" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003309</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003309" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003309</a>]</span><br /> -
Kyphoscoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405771009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405771009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405772002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405772002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405773007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405773007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600033&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600033</a>, <a href="https://bioportal.bioontology.org/search?q=C0575158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575158</a>, <a href="https://bioportal.bioontology.org/search?q=C0345392&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345392</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0008453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008453</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</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 stiffness, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232434&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232434</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84445001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84445001</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001387</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">
- Synophrys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253207002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253207002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431447&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431447</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000664" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000664</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000664" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000664</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d88a284723f3407bf387ee65da76603e" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Synophrys-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=d88a284723f3407bf387ee65da76603e&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 /> -
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 /> -
Coarse hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48610005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48610005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0277959&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0277959</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002208" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002208</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002208" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002208</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hernias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414403008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414403008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K46</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K40-K46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40-K46</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019270&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019270</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100790</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100790</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- 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 /> -
Slowing mental development by 1.5 to 3 years of age <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854817</a>]</span><br /> -
Sleep disturbances common <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854818</a>]</span><br /> -
Loss of speech development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749539&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749539</a>]</span><br /> -
Motor deterioration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866284&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866284</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002333" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002333</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002333" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002333</a>]</span><br /> -
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Behavioral Psychiatric Manifestations </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Behavioral problems, severe, at age 3-4 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232433</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/277843001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">277843001</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000708" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000708</a>]</span><br /> -
Hyperactivity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44548000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44548000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000752</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000752</a>]</span><br /> -
Temper tantrums <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83943005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83943005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233558</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Acetyl CoA:alpha-glucosaminidase N-acetyltransferase deficiency in fibroblasts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854835&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854835</a>]</span><br /> -
Heparan sulfate excretion in urine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854827</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002159</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002159</a>]</span><br /> -
Metachromasia of white blood cells and fibroblasts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854828&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854828</a>]</span><br /> -
Enzyme replacement therapy has not been effective <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854836&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854836</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">
- Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
Most patients appear unaffected in the first year of life<br /> -
Intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years<br /> -
Mean age of death is 34 years<br /> -
Four clinically indistinguishable biochemically distinct forms<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 heparan-alpha-glucosaminide N-acetyltransferase gene (HGSNAT, <a href="/entry/610453#0001">610453.0001</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>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<span class="mim-font">
<a href="/entry/607016"> 607016 </a>
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</td>
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<span class="mim-font">
<a href="/entry/252800"> IDUA </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/252800"> 252800 </a>
</span>
</td>
</tr>
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<span class="mim-font">
<a href="/geneMap/4/22?start=-3&limit=10&highlight=22"> 4p16.3 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/607015"> Mucopolysaccharidosis Ih/s </a>
</span>
</td>
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<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>
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<span class="mim-font">
<a href="/entry/607015"> 607015 </a>
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<span class="mim-font">
<a href="/entry/252800"> IDUA </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/252800"> 252800 </a>
</span>
</td>
</tr>
<tr>
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<span class="mim-font">
<a href="/geneMap/5/282?start=-3&limit=10&highlight=282"> 5q14.1 </a>
</span>
</td>
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<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>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
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<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>
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<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>
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</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
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<span class="mim-font">
<a href="/entry/619698"> 619698 </a>
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<span class="mim-font">
<a href="/entry/610011"> ARSK </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/610011"> 610011 </a>
</span>
</td>
</tr>
<tr>
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<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>
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<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>
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<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>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
<p>A number sign (#) is used with this entry because mucopolysaccharidosis type IIIC (MPS3C), also known as Sanfilippo syndrome C, is caused by homozygous or compound heterozygous mutation in the HGSNAT gene (<a href="/entry/610453">610453</a>), encoding heparan acetyl-CoA:alpha-glucosaminide N-acetyltransferase, on chromosome 8p11.</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>Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (<a href="/entry/252900">252900</a>).</p>
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</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
<p><a href="#15" class="mim-tip-reference" title="Kresse, H., Von Figura, K., Bartsocas, C. &lt;strong&gt;Clinical and biochemical findings in a family with Sanfilippo disease, type C. (Abstract)&lt;/strong&gt; Clin. Genet. 10: 364, 1976."None>Kresse et al. (1976)</a> reported 2 related patients of Greek origin with the phenotype of Sanfilippo syndrome who had normal values of heparan sulfamidase (<a href="/entry/605270">605270</a>) and alpha-N-acetylglucosaminidase (NAGLU; <a href="/entry/609701">609701</a>). Metabolic correction was achieved upon cocultivation with Sanfilippo A and Sanfilippo B (<a href="/entry/252920">252920</a>) fibroblasts. The authors termed the disorder 'Sanfilippo disease type C.'</p><p><a href="#13" class="mim-tip-reference" title="Klein, U., Kresse, H., von Figura, K. &lt;strong&gt;Sanfilippo syndrome type C: deficiency of acetyl-CoA: alpha-glucosaminide N-acetyltransferase in skin fibroblasts.&lt;/strong&gt; Proc. Nat. Acad. Sci. 75: 5185-5189, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33384/&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;33384&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.75.10.5185&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="33384">Klein et al. (1978)</a> identified complete deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in 3 patients with MPS IIIC. In a note added in proof, they indicated that since submission of the manuscript, they had proved the IIIC defect in 11 cases of the Sanfilippo syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33384" 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="Sewell, A. C., Pontz, B. F., Benischek, G. &lt;strong&gt;Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigree.&lt;/strong&gt; Clin. Genet. 34: 116-121, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3142713/&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;3142713&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1988.tb02846.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="3142713">Sewell et al. (1988)</a> reported 2 affected sisters born from a large consanguineous Turkish family with MPS IIIC. The older child presented at 3 months of age with dysmorphic signs, including coarse facies, hypertelorism, low-set ears, depressed nasal bridge, and coarse hair. She had mild hepatosplenomegaly and high lumbar vertebral bodies radiographically. She demonstrated delayed motor development. The younger sister presented at age 16 months with a similar clinical phenotype. Skeletal radiographs showed iliac flaring, practically flat acetabula, and thickened femoral necks. The lumbar vertebral bodies showed ovoid deformities. Urinary heparan sulfate was increased. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3142713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Ruijter, G. J. G., Valstar, M. J., van de Kamp, J. M., van der Helm, R. M., Durand, S., van Diggelen, O. P., Wevers, R. A., Poorthuis, B. J., Pshezhetsky, A. V., Wijburg, F. A. &lt;strong&gt;Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The (sic) Netherlands.&lt;/strong&gt; Molec. Genet. Metab. 93: 104-111, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18024218/&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;18024218&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2007.09.011&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18024218">Ruijter et al. (2008)</a> reported 29 patients from the Netherlands with MPS IIIC. Some of the patients were of Turkish or Moroccan descent. Psychomotor development was reported to be normal in all patients during the first year of life. Onset of behavioral problems or psychomotor retardation became apparent between 1 and 6 years of age. Behavioral problems were severe and included restlessness, chaotic behavior, and temper tantrums. Sleep disturbances were common. Other features included diarrhea, inguinal or umbilical hernia, recurrent upper respiratory tract infection, and seizure. Retinitis pigmentosa was present in 3 patients over age 30. Neurologically, patients showed loss of speech development and developmental decline about 10 years before loss of motor function. The mean age at death was 34 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18024218" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Canals, I., Elalaoui, S. C., Pineda, M., Delgadillo, V., Szlago, M., Jaouad, I. C., Sefiani, A., Chabas, A., Coll, M. J., Grinberg, D., Vilageliu, L. &lt;strong&gt;Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.&lt;/strong&gt; Clin. Genet. 80: 367-374, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20825431/&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;20825431&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2010.01525.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="20825431">Canals et al. (2011)</a> reported 11 unrelated probands with MPS IIIC, including 7 of Spanish origin, 1 from Argentina, and 3 from Morocco. Four of the families were consanguineous. The age at onset ranged between 3 and 6 years. Clinical features included motor deterioration, loss of speech, seizures, and delayed psychomotor development. Most had coarse facial features and hypertrichosis; variable but common additional features included sleep difficulties, kyphoscoliosis, hearing loss, and dysphagia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20825431" 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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<div>
<a id="biochemicalFeatures" class="mim-anchor"></a>
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<strong>Biochemical Features</strong>
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</h4>
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<p>The lysosomal-membrane enzyme deficient in MPS IIIC catalyzes the transfer of an acetyl group from cytoplasmic acetyl-CoA to terminal alpha-glucosamine residues of heparan sulfate with lysosomes. It was the first nonhydrolytic activity identified as occurring in lysosomes. <a href="#2" class="mim-tip-reference" title="Bame, K. J., Rome, L. H. &lt;strong&gt;Acetyl coenzyme A:alpha-glucosaminide N-acetyltransferase: evidence for a transmembrane acetylation mechanism.&lt;/strong&gt; J. Biol. Chem. 260: 11293-11299, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3897232/&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;3897232&lt;/a&gt;]" pmid="3897232">Bame and Rome (1985)</a> found that the enzyme carries out a transmembrane acetylation via a ping-pong mechanism. The reaction can be dissected into 2 half reactions: acetylation of the enzyme and transfer of the acetyl group to glucosamine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3897232" 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="#4" class="mim-tip-reference" title="Bame, K. J., Rome, L. H. &lt;strong&gt;Genetic evidence for transmembrane acetylation by lysosomes.&lt;/strong&gt; Science 233: 1087-1089, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3090688/&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;3090688&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.3090688&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="3090688">Bame and Rome (1986)</a> found that 5 cell lines from 3 affected families with Sanfilippo syndrome type C living in the Netherlands were able to catalyze acetylation of the lysosomal membrane and to carry out acetyl-CoA/CoA exchange, but could not transfer the bound acetyl group to glucosamine; a sixth cell line from a patient of Italian ancestry was devoid of this activity. Acetylation of terminal alpha-linked glucosamine residues inside the lysosome is a required step in the degradation of heparan sulfate. Although acetyl-CoA is the acetyl donor in this reaction, it is unlikely that this cofactor could exist stably in the acidic and hydrolytic ambience of the lysosome. N-acetyltransferase provides a means for cells to use cytoplasmically derived acetyl-CoA in heparan sulfate degradation without transporting the intact molecule across the lysosomal membrane. Vectorial transport of the acetyl group across the lysosomal membrane appears to be a unique solution to a complex enzymatic and compartmental problem. Whether the 2 classes of mutants are allelic remains to be determined. The data are consistent with a model assuming a single subunit (<a href="#18" class="mim-tip-reference" title="Rome, L. H. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Los Angeles, Calif. 9/8/1986."None>Rome, 1986</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3090688" 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="diagnosis" class="mim-anchor"></a>
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<strong>Diagnosis</strong>
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<p><a href="#14" class="mim-tip-reference" title="Klein, U., van de Kamp, J. J. P., von Figura, K., Pohlmann, R. &lt;strong&gt;Sanfilippo syndrome type C: assay for acetyl-CoA: alpha-glucosaminide N-acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals.&lt;/strong&gt; Clin. Genet. 20: 55-59, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6794963/&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;6794963&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1981.tb01807.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="6794963">Klein et al. (1981)</a> described an assay for the detection in leukocytes of homozygous and heterozygous carriers of Sanfilippo syndrome type C. Affected individuals had no residual activity of acetyl-CoA:alpha-glucosaminide N-acetyltransferase. The authors noted that the enzyme was strongly membrane-bound. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6794963" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
<a href="#8" class="mim-tip-reference" title="DiNatale, P., Pannone, N., D&#x27;Argenio, G., Gatti, R., Ricci, R., Lombardo, C. &lt;strong&gt;First-trimester prenatal diagnosis of Sanfilippo C disease.&lt;/strong&gt; Prenatal Diag. 7: 603-605, 1987."None>DiNatale et al. (1987)</a> diagnosed MPS IIIC in a fetus by enzymatic studies of chorionic villus biopsy material obtained at 10 weeks' gestation.</p>
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<a id="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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<p>MPS IIIC is an autosomal recessive disorder (<a href="#9" class="mim-tip-reference" title="Fan, X., Zhang, H., Zhang, S., Bagshaw, R. D., Tropak, M. B., Callahan, J. W., Mahuran, D. J. &lt;strong&gt;Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).&lt;/strong&gt; Am. J. Hum. Genet. 79: 738-744, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16960811/&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;16960811&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16960811[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/10.1086/508068&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="16960811">Fan et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16960811" 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="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Mapping</strong>
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<p><a href="#1" class="mim-tip-reference" title="Ausseil, J., Loredo-Osti, J. C., Verner, A., Darmond-Zwaig, C., Maire, I., Poorthuis, B., van Diggelen, O. P., Hudson, T. J., Fujiwara, T. M., Morgan, K., Pshezhetsky, A. V. &lt;strong&gt;Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8.&lt;/strong&gt; J. Med. Genet. 41: 941-944, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15591281/&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;15591281&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2004.021501&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="15591281">Ausseil et al. (2004)</a> performed a genomewide scan on 44 MPS IIIC patients and their unaffected relatives from 31 families in 10 countries. Several of the families were consanguineous. Analysis of excess homozygosity in patients and identity in state of genotypes among affected relatives identified chromosome 8. Linkage analysis delineated an 8.3-cM candidate gene interval in the pericentromeric region of chromosome 8 (maximum multipoint lod score of 10.61 at marker D8S519). Affected sibs were identical in state for 15 consecutive markers in this region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15591281" 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="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Molecular Genetics</strong>
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<p><a href="#9" class="mim-tip-reference" title="Fan, X., Zhang, H., Zhang, S., Bagshaw, R. D., Tropak, M. B., Callahan, J. W., Mahuran, D. J. &lt;strong&gt;Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).&lt;/strong&gt; Am. J. Hum. Genet. 79: 738-744, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16960811/&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;16960811&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16960811[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/10.1086/508068&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="16960811">Fan et al. (2006)</a> identified the HGSNAT gene (<a href="/entry/610453">610453</a>), encoding the human N-acetyltransferase, and identified 2 mutations accounting for 4 alleles in 2 human MPS IIIC cell lines. A splice junction mutation (<a href="/entry/610453#0001">610453.0001</a>) accounted for 3 mutant alleles, and a single-basepair insertion (<a href="/entry/610453#0002">610453.0002</a>) accounted for the fourth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16960811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Hrebicek, M., Mrazova, L., Seyrantepe, V., Durand, S., Roslin, N. M., Noskova, L., Hartmannova, H., Ivanek, R., Cizkova, A., Poupetova, H., Sikora, J., Urinovska, J., and 18 others. &lt;strong&gt;Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).&lt;/strong&gt; Am. J. Hum. Genet. 79: 807-819, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17033958/&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;17033958&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=17033958[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/10.1086/508294&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="17033958">Hrebicek et al. (2006)</a> narrowed the candidate linkage region for Sanfilippo syndrome type C to a 2.6-cM interval between D8S1051 and D8S1831 on chromosome 8p and identified causative mutations in the HGSNAT gene (e.g., <a href="/entry/610453#0003">610453.0003</a>-<a href="/entry/610453#0005">610453.0005</a>). Among 30 probands with MPS IIIC, they identified 4 nonsense mutations, 3 frameshift mutations due to deletions or a duplication, 6 splice site mutations, and 14 missense mutations. The probands were geographically and ethnically diverse. In 23 of the 30 probands included in this study for mutation analysis, HGSNAT mutations were identified in both alleles. Five probands were heterozygous for a missense mutation, with a second mutation yet to be identified. In 2 probands, no mutation in the coding regions or immediate flanking regions was identified. These patients were homozygous for the microsatellite markers throughout the entire MPS IIIC locus and may be homozygous for a yet to be identified HGSNAT mutation. Functional expression of human HGSNAT and the mouse ortholog demonstrated that it is the gene that encodes the lysosomal N-acetyltransferase and suggested that this enzyme belongs to a new structural class of proteins that transport the activated acetyl residues across the cell membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17033958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 unrelated Portuguese patients with MPS IIIC, <a href="#7" class="mim-tip-reference" title="Coutinho, M. F., Lacerda, L., Prata, M. J., Ribeiro, H., Lopes, L., Ferreira, C., Alves, S. &lt;strong&gt;Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene. (Letter)&lt;/strong&gt; Clin. Genet. 74: 194-195, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18518886/&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;18518886&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2008.01040.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="18518886">Coutinho et al. (2008)</a> identified 2 different mutations in the HGSNAT gene (<a href="/entry/610453#0006">610453.0006</a> and <a href="/entry/610453#0007">610453.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18518886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Feldhammer, M., Durand, S., Mrazova, L., Boucher, R.-M., Laframboise, R., Steinfeld, R., Wraith, J. E., Michelakakis, H., van Diggelen, O. P., Hrebicek, M., Kmoch, S., Pshezhetsky, A. V. &lt;strong&gt;Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.&lt;/strong&gt; Hum. Mutat. 30: 918-925, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19479962/&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;19479962&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20986&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="19479962">Feldhammer et al. (2009)</a> stated that 50 pathogenic mutations in the HGSNAT gene had been reported to date, and the authors identified 10 novel mutations. A review of published mutations showed that they span the entire HGSNAT gene, and there were no obvious genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19479962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Canals, I., Elalaoui, S. C., Pineda, M., Delgadillo, V., Szlago, M., Jaouad, I. C., Sefiani, A., Chabas, A., Coll, M. J., Grinberg, D., Vilageliu, L. &lt;strong&gt;Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.&lt;/strong&gt; Clin. Genet. 80: 367-374, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20825431/&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;20825431&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2010.01525.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="20825431">Canals et al. (2011)</a> identified 9 different pathogenic mutations in the HGSNAT gene, including 7 novel mutations, in 11 patients with MPS IIIC, including 7 of Spanish origin, 1 from Argentina, and 3 from Morocco. The most common mutation was 372-2A-G (<a href="/entry/610453#0007">610453.0007</a>), which was found in 4 Spanish patients, with a frequency of 50% (7 of 14 alleles) for the Spanish patients. The second most common mutation was 234+1G-A (<a href="/entry/610453#0010">610453.0010</a>), which was found in 1 Spanish and 2 Moroccan patients. Haplotype analysis indicated a founder effect for both of these mutations. Each of the 7 novel mutations was found in only 1 patient. In vitro functional expression assays in COS-7 cells showed that missense mutations had practically no residual enzyme activity (range, 0-1.19%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20825431" 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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<strong>Population Genetics</strong>
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<p>Using multiple ascertainment sources, <a href="#16" class="mim-tip-reference" title="Nelson, J., Crowhurst, J., Carey, B., Greed, L. &lt;strong&gt;Incidence of the mucopolysaccharidoses in western Australia.&lt;/strong&gt; Am. J. Med. Genet. 123A: 310-313, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14608657/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14608657&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20314&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14608657">Nelson et al. (2003)</a> obtained an incidence rate for Sanfilippo syndrome (all forms combined) in western Australia for the period 1969 to 1996 of approximately 1 in 58,000 live births; there was a total of 11 cases, including 5 of type A, 5 of type B, and 1 of type C. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14608657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Ruijter, G. J. G., Valstar, M. J., van de Kamp, J. M., van der Helm, R. M., Durand, S., van Diggelen, O. P., Wevers, R. A., Poorthuis, B. J., Pshezhetsky, A. V., Wijburg, F. A. &lt;strong&gt;Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The (sic) Netherlands.&lt;/strong&gt; Molec. Genet. Metab. 93: 104-111, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18024218/&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;18024218&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2007.09.011&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18024218">Ruijter et al. (2008)</a> reported a high frequency of 2 HGSNAT mutations in the Dutch population (R344C; <a href="/entry/610453#0008">610453.0008</a> and S518F; <a href="/entry/610453#0009">610453.0009</a>), which occurred in 22% and 29.3% of mutant alleles, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18024218" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The birth prevalence of MPS IIIC in Australia, Portugal, and the Netherlands has been estimated at 0.07, 0.12, and 0.21 per 100,000, respectively (<a href="#10" class="mim-tip-reference" title="Feldhammer, M., Durand, S., Mrazova, L., Boucher, R.-M., Laframboise, R., Steinfeld, R., Wraith, J. E., Michelakakis, H., van Diggelen, O. P., Hrebicek, M., Kmoch, S., Pshezhetsky, A. V. &lt;strong&gt;Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.&lt;/strong&gt; Hum. Mutat. 30: 918-925, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19479962/&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;19479962&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20986&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="19479962">Feldhammer et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19479962" 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="history" class="mim-anchor"></a>
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<strong>History</strong>
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<p><a href="#22" class="mim-tip-reference" title="Zaremba, J., Kleijer, W. J., Huijmans, J. G. M., Poorthuis, B., Fidzianska, E., Glogowska, I. &lt;strong&gt;Chromosomes 14 and 21 as possible candidates for mapping the gene for Sanfilippo disease type IIIC.&lt;/strong&gt; J. Med. Genet. 29: 514, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1640438/&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;1640438&lt;/a&gt;]" pmid="1640438">Zaremba et al. (1992)</a> identified a presumably balanced Robertsonian translocation in 2 sibs with Sanfilippo disease type IIIC and suggested that the mutant gene was located in the pericentric region of either chromosome 14 or chromosome 21. The mother had the same balanced Robertsonian translocation involving chromosomes 14 and 21. A third, unaffected, child did not receive the translocation chromosome from the mother. <a href="#22" class="mim-tip-reference" title="Zaremba, J., Kleijer, W. J., Huijmans, J. G. M., Poorthuis, B., Fidzianska, E., Glogowska, I. &lt;strong&gt;Chromosomes 14 and 21 as possible candidates for mapping the gene for Sanfilippo disease type IIIC.&lt;/strong&gt; J. Med. Genet. 29: 514, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1640438/&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;1640438&lt;/a&gt;]" pmid="1640438">Zaremba et al. (1992)</a> raised the possibility that one of the 2 mutated loci necessary for the disorder was the result of rearrangement in the pericentric region of either chromosome 14 or 21 and that only the father was a carrier of the 'regular' mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1640438" 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="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>See Also:</strong>
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<a href="#Bame1986" class="mim-tip-reference" title="Bame, K. J., Rome, L. H. &lt;strong&gt;Genetic evidence for transmembrane acetylation by lysosomes.&lt;/strong&gt; Science 233: 1087-1089, 1986.">Bame and Rome (1986)</a>; <a href="#Bartsocas1979" class="mim-tip-reference" title="Bartsocas, C., Grobe, H., van de Kamp, J. J. P., von Figura, K., Kresse, H., Klein, U., Giesberts, M. A. H. &lt;strong&gt;Sanfilippo type C disease: clinical findings in four patients with a new variant of mucopolysaccharidosis III.&lt;/strong&gt; Europ. J. Pediat. 130: 251-258, 1979.">Bartsocas et al. (1979)</a>; <a href="#Hopwood1981" class="mim-tip-reference" title="Hopwood, J. J., Elliott, H. &lt;strong&gt;The diagnosis of the Sanfilippo C syndrome, using monosaccharide and oligosaccharide substrates to assay acetyl-CoA: 2-amino-2-deoxy-alpha-glucoside N-acetyltransferase activity.&lt;/strong&gt; Clin. Chim. Acta 112: 67-75, 1981.">Hopwood and Elliott
(1981)</a>; <a href="#Rome1983" class="mim-tip-reference" title="Rome, L. H., Hill, D. F., Bame, K. J., Crain, L. R. &lt;strong&gt;Utilization of exogenously added acetyl coenzyme A by intact isolated lysosomes.&lt;/strong&gt; J. Biol. Chem. 258: 3006-3011, 1983.">Rome et al. (1983)</a>; <a href="#Uvebrant1985" class="mim-tip-reference" title="Uvebrant, P. &lt;strong&gt;Sanfilippo type C syndrome in two sisters.&lt;/strong&gt; Acta Paediat. Scand. 74: 137-139, 1985.">Uvebrant (1985)</a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Ausseil2004" class="mim-anchor"></a>
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Ausseil, J., Loredo-Osti, J. C., Verner, A., Darmond-Zwaig, C., Maire, I., Poorthuis, B., van Diggelen, O. P., Hudson, T. J., Fujiwara, T. M., Morgan, K., Pshezhetsky, A. V.
<strong>Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8.</strong>
J. Med. Genet. 41: 941-944, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15591281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15591281</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15591281" 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.2004.021501" target="_blank">Full Text</a>]
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<a id="Bame1985" class="mim-anchor"></a>
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<p class="mim-text-font">
Bame, K. J., Rome, L. H.
<strong>Acetyl coenzyme A:alpha-glucosaminide N-acetyltransferase: evidence for a transmembrane acetylation mechanism.</strong>
J. Biol. Chem. 260: 11293-11299, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3897232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3897232</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3897232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Bame1986" class="mim-anchor"></a>
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<p class="mim-text-font">
Bame, K. J., Rome, L. H.
<strong>Acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase: evidence for an active site histidine residue.</strong>
J. Biol. Chem. 261: 10127-10132, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3733705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3733705</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3733705" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Bame1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bame, K. J., Rome, L. H.
<strong>Genetic evidence for transmembrane acetylation by lysosomes.</strong>
Science 233: 1087-1089, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3090688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3090688</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3090688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1126/science.3090688" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
<a id="Bartsocas1979" class="mim-anchor"></a>
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<p class="mim-text-font">
Bartsocas, C., Grobe, H., van de Kamp, J. J. P., von Figura, K., Kresse, H., Klein, U., Giesberts, M. A. H.
<strong>Sanfilippo type C disease: clinical findings in four patients with a new variant of mucopolysaccharidosis III.</strong>
Europ. J. Pediat. 130: 251-258, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/108106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">108106</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=108106" 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/BF00441361" target="_blank">Full Text</a>]
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<a id="Canals2011" class="mim-anchor"></a>
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Canals, I., Elalaoui, S. C., Pineda, M., Delgadillo, V., Szlago, M., Jaouad, I. C., Sefiani, A., Chabas, A., Coll, M. J., Grinberg, D., Vilageliu, L.
<strong>Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.</strong>
Clin. Genet. 80: 367-374, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20825431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20825431</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20825431" 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.1399-0004.2010.01525.x" target="_blank">Full Text</a>]
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<a id="Coutinho2008" class="mim-anchor"></a>
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<p class="mim-text-font">
Coutinho, M. F., Lacerda, L., Prata, M. J., Ribeiro, H., Lopes, L., Ferreira, C., Alves, S.
<strong>Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene. (Letter)</strong>
Clin. Genet. 74: 194-195, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18518886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18518886</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18518886" 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.1399-0004.2008.01040.x" target="_blank">Full Text</a>]
</p>
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<a id="DiNatale1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
DiNatale, P., Pannone, N., D'Argenio, G., Gatti, R., Ricci, R., Lombardo, C.
<strong>First-trimester prenatal diagnosis of Sanfilippo C disease.</strong>
Prenatal Diag. 7: 603-605, 1987.
</p>
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<li>
<a id="9" class="mim-anchor"></a>
<a id="Fan2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fan, X., Zhang, H., Zhang, S., Bagshaw, R. D., Tropak, M. B., Callahan, J. W., Mahuran, D. J.
<strong>Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).</strong>
Am. J. Hum. Genet. 79: 738-744, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960811</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960811[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=16960811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/508068" target="_blank">Full Text</a>]
</p>
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<a id="10" class="mim-anchor"></a>
<a id="Feldhammer2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Feldhammer, M., Durand, S., Mrazova, L., Boucher, R.-M., Laframboise, R., Steinfeld, R., Wraith, J. E., Michelakakis, H., van Diggelen, O. P., Hrebicek, M., Kmoch, S., Pshezhetsky, A. V.
<strong>Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.</strong>
Hum. Mutat. 30: 918-925, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19479962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19479962</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19479962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.20986" target="_blank">Full Text</a>]
</p>
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<a id="11" class="mim-anchor"></a>
<a id="Hopwood1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hopwood, J. J., Elliott, H.
<strong>The diagnosis of the Sanfilippo C syndrome, using monosaccharide and oligosaccharide substrates to assay acetyl-CoA: 2-amino-2-deoxy-alpha-glucoside N-acetyltransferase activity.</strong>
Clin. Chim. Acta 112: 67-75, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6786804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6786804</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6786804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0009-8981(81)90269-2" target="_blank">Full Text</a>]
</p>
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<a id="12" class="mim-anchor"></a>
<a id="Hrebicek2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hrebicek, M., Mrazova, L., Seyrantepe, V., Durand, S., Roslin, N. M., Noskova, L., Hartmannova, H., Ivanek, R., Cizkova, A., Poupetova, H., Sikora, J., Urinovska, J., and 18 others.
<strong>Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).</strong>
Am. J. Hum. Genet. 79: 807-819, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17033958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17033958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17033958[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=17033958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/508294" target="_blank">Full Text</a>]
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<a id="Klein1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Klein, U., Kresse, H., von Figura, K.
<strong>Sanfilippo syndrome type C: deficiency of acetyl-CoA: alpha-glucosaminide N-acetyltransferase in skin fibroblasts.</strong>
Proc. Nat. Acad. Sci. 75: 5185-5189, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33384</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33384" 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.75.10.5185" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
<a id="Klein1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Klein, U., van de Kamp, J. J. P., von Figura, K., Pohlmann, R.
<strong>Sanfilippo syndrome type C: assay for acetyl-CoA: alpha-glucosaminide N-acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals.</strong>
Clin. Genet. 20: 55-59, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6794963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6794963</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6794963" 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.1399-0004.1981.tb01807.x" target="_blank">Full Text</a>]
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<a id="Kresse1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kresse, H., Von Figura, K., Bartsocas, C.
<strong>Clinical and biochemical findings in a family with Sanfilippo disease, type C. (Abstract)</strong>
Clin. Genet. 10: 364, 1976.
</p>
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<a id="16" class="mim-anchor"></a>
<a id="Nelson2003" class="mim-anchor"></a>
<div class="">
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Nelson, J., Crowhurst, J., Carey, B., Greed, L.
<strong>Incidence of the mucopolysaccharidoses in western Australia.</strong>
Am. J. Med. Genet. 123A: 310-313, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14608657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14608657</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14608657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.20314" target="_blank">Full Text</a>]
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<a id="Rome1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rome, L. H., Hill, D. F., Bame, K. J., Crain, L. R.
<strong>Utilization of exogenously added acetyl coenzyme A by intact isolated lysosomes.</strong>
J. Biol. Chem. 258: 3006-3011, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6402508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6402508</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6402508" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="18" class="mim-anchor"></a>
<a id="Rome1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rome, L. H.
<strong>Personal Communication.</strong>
Los Angeles, Calif. 9/8/1986.
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<a id="Ruijter2008" class="mim-anchor"></a>
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<p class="mim-text-font">
Ruijter, G. J. G., Valstar, M. J., van de Kamp, J. M., van der Helm, R. M., Durand, S., van Diggelen, O. P., Wevers, R. A., Poorthuis, B. J., Pshezhetsky, A. V., Wijburg, F. A.
<strong>Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The (sic) Netherlands.</strong>
Molec. Genet. Metab. 93: 104-111, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18024218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18024218</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18024218" 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.2007.09.011" target="_blank">Full Text</a>]
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<a id="Sewell1988" class="mim-anchor"></a>
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Sewell, A. C., Pontz, B. F., Benischek, G.
<strong>Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigree.</strong>
Clin. Genet. 34: 116-121, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3142713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3142713</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3142713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1988.tb02846.x" target="_blank">Full Text</a>]
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<a id="Uvebrant1985" class="mim-anchor"></a>
<div class="">
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Uvebrant, P.
<strong>Sanfilippo type C syndrome in two sisters.</strong>
Acta Paediat. Scand. 74: 137-139, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3920864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3920864</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3920864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1651-2227.1985.tb10936.x" target="_blank">Full Text</a>]
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<a id="22" class="mim-anchor"></a>
<a id="Zaremba1992" class="mim-anchor"></a>
<div class="">
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Zaremba, J., Kleijer, W. J., Huijmans, J. G. M., Poorthuis, B., Fidzianska, E., Glogowska, I.
<strong>Chromosomes 14 and 21 as possible candidates for mapping the gene for Sanfilippo disease type IIIC.</strong>
J. Med. Genet. 29: 514, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1640438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1640438</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1640438" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="contributors" class="mim-anchor"></a>
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Cassandra L. Kniffin - updated : 10/11/2011
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Cassandra L. Kniffin - updated : 9/8/2009<br>Cassandra L. Kniffin - updated : 8/19/2008<br>Victor A. McKusick - updated : 10/9/2006<br>Victor A. McKusick - updated : 9/22/2006<br>Cassandra L. Kniffin - reorganized : 1/27/2005<br>Cassandra L. Kniffin - updated : 1/24/2005<br>Victor A. McKusick - updated : 1/14/2004
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Victor A. McKusick : 6/4/1986
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alopez : 06/13/2022
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carol : 02/12/2014<br>mcolton : 2/12/2014<br>carol : 10/13/2011<br>ckniffin : 10/11/2011<br>wwang : 9/21/2009<br>ckniffin : 9/8/2009<br>wwang : 8/26/2008<br>ckniffin : 8/19/2008<br>alopez : 10/10/2006<br>carol : 10/9/2006<br>alopez : 9/28/2006<br>terry : 9/22/2006<br>ckniffin : 11/16/2005<br>tkritzer : 1/27/2005<br>ckniffin : 1/24/2005<br>ckniffin : 1/24/2005<br>mgross : 3/17/2004<br>carol : 1/14/2004<br>joanna : 3/28/2001<br>mimman : 2/8/1996<br>warfield : 4/15/1994<br>carol : 8/27/1992<br>supermim : 3/17/1992<br>carol : 3/4/1992<br>carol : 1/30/1991<br>supermim : 3/20/1990
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<h3>
<span class="mim-font">
<strong>#</strong> 252930
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MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C
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<em>Alternative titles; symbols</em>
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MPS IIIC<br />
SANFILIPPO SYNDROME C<br />
ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY
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<strong>SNOMEDCT:</strong> 75238000; &nbsp;
<strong>ICD10CM:</strong> E76.22; &nbsp;
<strong>ORPHA:</strong> 581, 79271; &nbsp;
<strong>DO:</strong> 0111393; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
8p11.21-p11.1
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Mucopolysaccharidosis type IIIC (Sanfilippo C)
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252930
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Autosomal recessive
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3
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HGSNAT
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610453
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because mucopolysaccharidosis type IIIC (MPS3C), also known as Sanfilippo syndrome C, is caused by homozygous or compound heterozygous mutation in the HGSNAT gene (610453), encoding heparan acetyl-CoA:alpha-glucosaminide N-acetyltransferase, on chromosome 8p11.</p>
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<strong>Description</strong>
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<p>Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (252900).</p>
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<strong>Clinical Features</strong>
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<p>Kresse et al. (1976) reported 2 related patients of Greek origin with the phenotype of Sanfilippo syndrome who had normal values of heparan sulfamidase (605270) and alpha-N-acetylglucosaminidase (NAGLU; 609701). Metabolic correction was achieved upon cocultivation with Sanfilippo A and Sanfilippo B (252920) fibroblasts. The authors termed the disorder 'Sanfilippo disease type C.'</p><p>Klein et al. (1978) identified complete deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in 3 patients with MPS IIIC. In a note added in proof, they indicated that since submission of the manuscript, they had proved the IIIC defect in 11 cases of the Sanfilippo syndrome. </p><p>Sewell et al. (1988) reported 2 affected sisters born from a large consanguineous Turkish family with MPS IIIC. The older child presented at 3 months of age with dysmorphic signs, including coarse facies, hypertelorism, low-set ears, depressed nasal bridge, and coarse hair. She had mild hepatosplenomegaly and high lumbar vertebral bodies radiographically. She demonstrated delayed motor development. The younger sister presented at age 16 months with a similar clinical phenotype. Skeletal radiographs showed iliac flaring, practically flat acetabula, and thickened femoral necks. The lumbar vertebral bodies showed ovoid deformities. Urinary heparan sulfate was increased. </p><p>Ruijter et al. (2008) reported 29 patients from the Netherlands with MPS IIIC. Some of the patients were of Turkish or Moroccan descent. Psychomotor development was reported to be normal in all patients during the first year of life. Onset of behavioral problems or psychomotor retardation became apparent between 1 and 6 years of age. Behavioral problems were severe and included restlessness, chaotic behavior, and temper tantrums. Sleep disturbances were common. Other features included diarrhea, inguinal or umbilical hernia, recurrent upper respiratory tract infection, and seizure. Retinitis pigmentosa was present in 3 patients over age 30. Neurologically, patients showed loss of speech development and developmental decline about 10 years before loss of motor function. The mean age at death was 34 years. </p><p>Canals et al. (2011) reported 11 unrelated probands with MPS IIIC, including 7 of Spanish origin, 1 from Argentina, and 3 from Morocco. Four of the families were consanguineous. The age at onset ranged between 3 and 6 years. Clinical features included motor deterioration, loss of speech, seizures, and delayed psychomotor development. Most had coarse facial features and hypertrichosis; variable but common additional features included sleep difficulties, kyphoscoliosis, hearing loss, and dysphagia. </p>
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<strong>Biochemical Features</strong>
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<p>The lysosomal-membrane enzyme deficient in MPS IIIC catalyzes the transfer of an acetyl group from cytoplasmic acetyl-CoA to terminal alpha-glucosamine residues of heparan sulfate with lysosomes. It was the first nonhydrolytic activity identified as occurring in lysosomes. Bame and Rome (1985) found that the enzyme carries out a transmembrane acetylation via a ping-pong mechanism. The reaction can be dissected into 2 half reactions: acetylation of the enzyme and transfer of the acetyl group to glucosamine. </p><p>Bame and Rome (1986) found that 5 cell lines from 3 affected families with Sanfilippo syndrome type C living in the Netherlands were able to catalyze acetylation of the lysosomal membrane and to carry out acetyl-CoA/CoA exchange, but could not transfer the bound acetyl group to glucosamine; a sixth cell line from a patient of Italian ancestry was devoid of this activity. Acetylation of terminal alpha-linked glucosamine residues inside the lysosome is a required step in the degradation of heparan sulfate. Although acetyl-CoA is the acetyl donor in this reaction, it is unlikely that this cofactor could exist stably in the acidic and hydrolytic ambience of the lysosome. N-acetyltransferase provides a means for cells to use cytoplasmically derived acetyl-CoA in heparan sulfate degradation without transporting the intact molecule across the lysosomal membrane. Vectorial transport of the acetyl group across the lysosomal membrane appears to be a unique solution to a complex enzymatic and compartmental problem. Whether the 2 classes of mutants are allelic remains to be determined. The data are consistent with a model assuming a single subunit (Rome, 1986). </p>
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<strong>Diagnosis</strong>
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<p>Klein et al. (1981) described an assay for the detection in leukocytes of homozygous and heterozygous carriers of Sanfilippo syndrome type C. Affected individuals had no residual activity of acetyl-CoA:alpha-glucosaminide N-acetyltransferase. The authors noted that the enzyme was strongly membrane-bound. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
DiNatale et al. (1987) diagnosed MPS IIIC in a fetus by enzymatic studies of chorionic villus biopsy material obtained at 10 weeks' gestation.</p>
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<strong>Inheritance</strong>
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<p>MPS IIIC is an autosomal recessive disorder (Fan et al., 2006). </p>
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<strong>Mapping</strong>
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<p>Ausseil et al. (2004) performed a genomewide scan on 44 MPS IIIC patients and their unaffected relatives from 31 families in 10 countries. Several of the families were consanguineous. Analysis of excess homozygosity in patients and identity in state of genotypes among affected relatives identified chromosome 8. Linkage analysis delineated an 8.3-cM candidate gene interval in the pericentromeric region of chromosome 8 (maximum multipoint lod score of 10.61 at marker D8S519). Affected sibs were identical in state for 15 consecutive markers in this region. </p>
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<strong>Molecular Genetics</strong>
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<p>Fan et al. (2006) identified the HGSNAT gene (610453), encoding the human N-acetyltransferase, and identified 2 mutations accounting for 4 alleles in 2 human MPS IIIC cell lines. A splice junction mutation (610453.0001) accounted for 3 mutant alleles, and a single-basepair insertion (610453.0002) accounted for the fourth. </p><p>Hrebicek et al. (2006) narrowed the candidate linkage region for Sanfilippo syndrome type C to a 2.6-cM interval between D8S1051 and D8S1831 on chromosome 8p and identified causative mutations in the HGSNAT gene (e.g., 610453.0003-610453.0005). Among 30 probands with MPS IIIC, they identified 4 nonsense mutations, 3 frameshift mutations due to deletions or a duplication, 6 splice site mutations, and 14 missense mutations. The probands were geographically and ethnically diverse. In 23 of the 30 probands included in this study for mutation analysis, HGSNAT mutations were identified in both alleles. Five probands were heterozygous for a missense mutation, with a second mutation yet to be identified. In 2 probands, no mutation in the coding regions or immediate flanking regions was identified. These patients were homozygous for the microsatellite markers throughout the entire MPS IIIC locus and may be homozygous for a yet to be identified HGSNAT mutation. Functional expression of human HGSNAT and the mouse ortholog demonstrated that it is the gene that encodes the lysosomal N-acetyltransferase and suggested that this enzyme belongs to a new structural class of proteins that transport the activated acetyl residues across the cell membrane. </p><p>In 3 unrelated Portuguese patients with MPS IIIC, Coutinho et al. (2008) identified 2 different mutations in the HGSNAT gene (610453.0006 and 610453.0007). </p><p>Feldhammer et al. (2009) stated that 50 pathogenic mutations in the HGSNAT gene had been reported to date, and the authors identified 10 novel mutations. A review of published mutations showed that they span the entire HGSNAT gene, and there were no obvious genotype/phenotype correlations. </p><p>Canals et al. (2011) identified 9 different pathogenic mutations in the HGSNAT gene, including 7 novel mutations, in 11 patients with MPS IIIC, including 7 of Spanish origin, 1 from Argentina, and 3 from Morocco. The most common mutation was 372-2A-G (610453.0007), which was found in 4 Spanish patients, with a frequency of 50% (7 of 14 alleles) for the Spanish patients. The second most common mutation was 234+1G-A (610453.0010), which was found in 1 Spanish and 2 Moroccan patients. Haplotype analysis indicated a founder effect for both of these mutations. Each of the 7 novel mutations was found in only 1 patient. In vitro functional expression assays in COS-7 cells showed that missense mutations had practically no residual enzyme activity (range, 0-1.19%). </p>
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<strong>Population Genetics</strong>
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<p>Using multiple ascertainment sources, Nelson et al. (2003) obtained an incidence rate for Sanfilippo syndrome (all forms combined) in western Australia for the period 1969 to 1996 of approximately 1 in 58,000 live births; there was a total of 11 cases, including 5 of type A, 5 of type B, and 1 of type C. </p><p>Ruijter et al. (2008) reported a high frequency of 2 HGSNAT mutations in the Dutch population (R344C; 610453.0008 and S518F; 610453.0009), which occurred in 22% and 29.3% of mutant alleles, respectively. </p><p>The birth prevalence of MPS IIIC in Australia, Portugal, and the Netherlands has been estimated at 0.07, 0.12, and 0.21 per 100,000, respectively (Feldhammer et al., 2009). </p>
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<h4>
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<strong>History</strong>
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</div>
<span class="mim-text-font">
<p>Zaremba et al. (1992) identified a presumably balanced Robertsonian translocation in 2 sibs with Sanfilippo disease type IIIC and suggested that the mutant gene was located in the pericentric region of either chromosome 14 or chromosome 21. The mother had the same balanced Robertsonian translocation involving chromosomes 14 and 21. A third, unaffected, child did not receive the translocation chromosome from the mother. Zaremba et al. (1992) raised the possibility that one of the 2 mutated loci necessary for the disorder was the result of rearrangement in the pericentric region of either chromosome 14 or 21 and that only the father was a carrier of the 'regular' mutation. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Bame and Rome (1986); Bartsocas et al. (1979); Hopwood and Elliott
(1981); Rome et al. (1983); Uvebrant (1985)
</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">
Ausseil, J., Loredo-Osti, J. C., Verner, A., Darmond-Zwaig, C., Maire, I., Poorthuis, B., van Diggelen, O. P., Hudson, T. J., Fujiwara, T. M., Morgan, K., Pshezhetsky, A. V.
<strong>Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8.</strong>
J. Med. Genet. 41: 941-944, 2004.
[PubMed: 15591281]
[Full Text: https://doi.org/10.1136/jmg.2004.021501]
</p>
</li>
<li>
<p class="mim-text-font">
Bame, K. J., Rome, L. H.
<strong>Acetyl coenzyme A:alpha-glucosaminide N-acetyltransferase: evidence for a transmembrane acetylation mechanism.</strong>
J. Biol. Chem. 260: 11293-11299, 1985.
[PubMed: 3897232]
</p>
</li>
<li>
<p class="mim-text-font">
Bame, K. J., Rome, L. H.
<strong>Acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase: evidence for an active site histidine residue.</strong>
J. Biol. Chem. 261: 10127-10132, 1986.
[PubMed: 3733705]
</p>
</li>
<li>
<p class="mim-text-font">
Bame, K. J., Rome, L. H.
<strong>Genetic evidence for transmembrane acetylation by lysosomes.</strong>
Science 233: 1087-1089, 1986.
[PubMed: 3090688]
[Full Text: https://doi.org/10.1126/science.3090688]
</p>
</li>
<li>
<p class="mim-text-font">
Bartsocas, C., Grobe, H., van de Kamp, J. J. P., von Figura, K., Kresse, H., Klein, U., Giesberts, M. A. H.
<strong>Sanfilippo type C disease: clinical findings in four patients with a new variant of mucopolysaccharidosis III.</strong>
Europ. J. Pediat. 130: 251-258, 1979.
[PubMed: 108106]
[Full Text: https://doi.org/10.1007/BF00441361]
</p>
</li>
<li>
<p class="mim-text-font">
Canals, I., Elalaoui, S. C., Pineda, M., Delgadillo, V., Szlago, M., Jaouad, I. C., Sefiani, A., Chabas, A., Coll, M. J., Grinberg, D., Vilageliu, L.
<strong>Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.</strong>
Clin. Genet. 80: 367-374, 2011.
[PubMed: 20825431]
[Full Text: https://doi.org/10.1111/j.1399-0004.2010.01525.x]
</p>
</li>
<li>
<p class="mim-text-font">
Coutinho, M. F., Lacerda, L., Prata, M. J., Ribeiro, H., Lopes, L., Ferreira, C., Alves, S.
<strong>Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene. (Letter)</strong>
Clin. Genet. 74: 194-195, 2008.
[PubMed: 18518886]
[Full Text: https://doi.org/10.1111/j.1399-0004.2008.01040.x]
</p>
</li>
<li>
<p class="mim-text-font">
DiNatale, P., Pannone, N., D'Argenio, G., Gatti, R., Ricci, R., Lombardo, C.
<strong>First-trimester prenatal diagnosis of Sanfilippo C disease.</strong>
Prenatal Diag. 7: 603-605, 1987.
</p>
</li>
<li>
<p class="mim-text-font">
Fan, X., Zhang, H., Zhang, S., Bagshaw, R. D., Tropak, M. B., Callahan, J. W., Mahuran, D. J.
<strong>Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).</strong>
Am. J. Hum. Genet. 79: 738-744, 2006.
[PubMed: 16960811]
[Full Text: https://doi.org/10.1086/508068]
</p>
</li>
<li>
<p class="mim-text-font">
Feldhammer, M., Durand, S., Mrazova, L., Boucher, R.-M., Laframboise, R., Steinfeld, R., Wraith, J. E., Michelakakis, H., van Diggelen, O. P., Hrebicek, M., Kmoch, S., Pshezhetsky, A. V.
<strong>Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.</strong>
Hum. Mutat. 30: 918-925, 2009.
[PubMed: 19479962]
[Full Text: https://doi.org/10.1002/humu.20986]
</p>
</li>
<li>
<p class="mim-text-font">
Hopwood, J. J., Elliott, H.
<strong>The diagnosis of the Sanfilippo C syndrome, using monosaccharide and oligosaccharide substrates to assay acetyl-CoA: 2-amino-2-deoxy-alpha-glucoside N-acetyltransferase activity.</strong>
Clin. Chim. Acta 112: 67-75, 1981.
[PubMed: 6786804]
[Full Text: https://doi.org/10.1016/0009-8981(81)90269-2]
</p>
</li>
<li>
<p class="mim-text-font">
Hrebicek, M., Mrazova, L., Seyrantepe, V., Durand, S., Roslin, N. M., Noskova, L., Hartmannova, H., Ivanek, R., Cizkova, A., Poupetova, H., Sikora, J., Urinovska, J., and 18 others.
<strong>Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).</strong>
Am. J. Hum. Genet. 79: 807-819, 2006.
[PubMed: 17033958]
[Full Text: https://doi.org/10.1086/508294]
</p>
</li>
<li>
<p class="mim-text-font">
Klein, U., Kresse, H., von Figura, K.
<strong>Sanfilippo syndrome type C: deficiency of acetyl-CoA: alpha-glucosaminide N-acetyltransferase in skin fibroblasts.</strong>
Proc. Nat. Acad. Sci. 75: 5185-5189, 1978.
[PubMed: 33384]
[Full Text: https://doi.org/10.1073/pnas.75.10.5185]
</p>
</li>
<li>
<p class="mim-text-font">
Klein, U., van de Kamp, J. J. P., von Figura, K., Pohlmann, R.
<strong>Sanfilippo syndrome type C: assay for acetyl-CoA: alpha-glucosaminide N-acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals.</strong>
Clin. Genet. 20: 55-59, 1981.
[PubMed: 6794963]
[Full Text: https://doi.org/10.1111/j.1399-0004.1981.tb01807.x]
</p>
</li>
<li>
<p class="mim-text-font">
Kresse, H., Von Figura, K., Bartsocas, C.
<strong>Clinical and biochemical findings in a family with Sanfilippo disease, type C. (Abstract)</strong>
Clin. Genet. 10: 364, 1976.
</p>
</li>
<li>
<p class="mim-text-font">
Nelson, J., Crowhurst, J., Carey, B., Greed, L.
<strong>Incidence of the mucopolysaccharidoses in western Australia.</strong>
Am. J. Med. Genet. 123A: 310-313, 2003.
[PubMed: 14608657]
[Full Text: https://doi.org/10.1002/ajmg.a.20314]
</p>
</li>
<li>
<p class="mim-text-font">
Rome, L. H., Hill, D. F., Bame, K. J., Crain, L. R.
<strong>Utilization of exogenously added acetyl coenzyme A by intact isolated lysosomes.</strong>
J. Biol. Chem. 258: 3006-3011, 1983.
[PubMed: 6402508]
</p>
</li>
<li>
<p class="mim-text-font">
Rome, L. H.
<strong>Personal Communication.</strong>
Los Angeles, Calif. 9/8/1986.
</p>
</li>
<li>
<p class="mim-text-font">
Ruijter, G. J. G., Valstar, M. J., van de Kamp, J. M., van der Helm, R. M., Durand, S., van Diggelen, O. P., Wevers, R. A., Poorthuis, B. J., Pshezhetsky, A. V., Wijburg, F. A.
<strong>Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The (sic) Netherlands.</strong>
Molec. Genet. Metab. 93: 104-111, 2008.
[PubMed: 18024218]
[Full Text: https://doi.org/10.1016/j.ymgme.2007.09.011]
</p>
</li>
<li>
<p class="mim-text-font">
Sewell, A. C., Pontz, B. F., Benischek, G.
<strong>Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigree.</strong>
Clin. Genet. 34: 116-121, 1988.
[PubMed: 3142713]
[Full Text: https://doi.org/10.1111/j.1399-0004.1988.tb02846.x]
</p>
</li>
<li>
<p class="mim-text-font">
Uvebrant, P.
<strong>Sanfilippo type C syndrome in two sisters.</strong>
Acta Paediat. Scand. 74: 137-139, 1985.
[PubMed: 3920864]
[Full Text: https://doi.org/10.1111/j.1651-2227.1985.tb10936.x]
</p>
</li>
<li>
<p class="mim-text-font">
Zaremba, J., Kleijer, W. J., Huijmans, J. G. M., Poorthuis, B., Fidzianska, E., Glogowska, I.
<strong>Chromosomes 14 and 21 as possible candidates for mapping the gene for Sanfilippo disease type IIIC.</strong>
J. Med. Genet. 29: 514, 1992.
[PubMed: 1640438]
</p>
</li>
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