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Entry
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- #252900 - MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A
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- OMIM
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<p>
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<span class="h4">#252900</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/252900"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS607014"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div><a href="https://clinicaltrials.gov/search?cond=MUCOPOLYSACCHARIDOSIS, TYPE IIIA" 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><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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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… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11295&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Sanfilippo syndrome type A </a></div>
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</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><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=252900[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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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=79269" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Sanfilippo syndrome type A</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/4fead14c-f20b-4c48-ae3e-2d8532908046/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111395" 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>
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<div><a href="http://www.informatics.jax.org/disease/252900" 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>
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<div><a href="https://omia.org/OMIA001309/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:252900" 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>
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</div>
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</div>
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</div>
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</div>
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<span>
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<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.">
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</span>
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</div>
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<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">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 41572006<br />
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<strong>ICD10CM:</strong> E76.22<br />
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<strong>ORPHA:</strong> 581, 79269<br />
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<strong>DO:</strong> 0111395<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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252900
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</span>
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</span>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A
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</h3>
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</div>
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<div>
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<br />
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
MPS IIIA<br />
|
|
SANFILIPPO SYNDROME A<br />
|
|
HEPARAN SULFATE SULFATASE DEFICIENCY<br />
|
|
SULFAMIDASE 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/17/1017?start=-3&limit=10&highlight=1017">
|
|
17q25.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Mucopolysaccharidosis type IIIA (Sanfilippo A)
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/252900"> 252900 </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">
|
|
SGSH
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605270"> 605270 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/252900" 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>
|
|
|
|
|
|
|
|
|
|
<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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/252900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/252900" 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">
|
|
|
|
- Usually normal stature <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854821</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 />
|
|
|
|
</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="<img src="https://elementsofmorphology.nih.gov/images/terms/Synophrys-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d88a284723f3407bf387ee65da76603e" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 tract infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195708003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195708003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0581381&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0581381</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002788" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002788</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002788" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002788</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<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 />
|
|
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|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
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<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 />
|
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|
</span>
|
|
</div>
|
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</div>
|
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<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 />
|
|
|
|
</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 />
|
|
|
|
</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 />
|
|
|
|
</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">
|
|
|
|
- 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 /> -
|
|
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="<img src="https://elementsofmorphology.nih.gov/images/terms/Synophrys-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d88a284723f3407bf387ee65da76603e" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><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> 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 /> -
|
|
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 /> -
|
|
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 /> -
|
|
Slowing mental development by 1.5 to 3 years <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854845&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854845</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 />
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|
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</span>
|
|
</div>
|
|
</div>
|
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|
|
<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 />
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|
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</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Heparan N-sulfatase deficiency in fibroblasts and amniocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854847</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 />
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|
|
</span>
|
|
</div>
|
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|
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</div>
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|
|
|
</div>
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Four clinically indistinguishable biochemically distinct forms<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
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|
|
</div>
|
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|
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<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 mutations in the heparan sulfate sulfatase gene (SGSH, <a href="/entry/605270#0001">605270.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
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|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
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|
|
<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/607016"> Mucopolysaccharidosis Is </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607016"> 607016 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/252800"> IDUA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/252800"> 252800 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/22?start=-3&limit=10&highlight=22"> 4p16.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607015"> Mucopolysaccharidosis Ih/s </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607015"> 607015 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/252800"> IDUA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/252800"> 252800 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/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/5/282?start=-3&limit=10&highlight=282"> 5q14.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/253200"> Mucopolysaccharidosis type VI (Maroteaux-Lamy) </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/253200"> 253200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611542"> ARSB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611542"> 611542 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/330?start=-3&limit=10&highlight=330"> 5q15 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619698"> Mucopolysaccharidosis, type X </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619698"> 619698 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610011"> ARSK </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
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<a href="/entry/253220"> Mucopolysaccharidosis VII </a>
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<a href="/entry/252930"> Mucopolysaccharidosis type IIIC (Sanfilippo C) </a>
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<a href="/entry/253000"> Mucopolysaccharidosis IVA </a>
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<a href="/entry/252920"> Mucopolysaccharidosis type IIIB (Sanfilippo B) </a>
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<a href="/entry/252920"> 252920 </a>
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<a href="/entry/609701"> NAGLU </a>
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<a href="/entry/609701"> 609701 </a>
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<a href="/geneMap/17/1017?start=-3&limit=10&highlight=1017"> 17q25.3 </a>
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<span class="mim-font">
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<a href="/entry/252900"> Mucopolysaccharidosis type IIIA (Sanfilippo A) </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/252900"> 252900 </a>
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<a href="/entry/605270"> SGSH </a>
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<a href="/entry/605270"> 605270 </a>
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<a href="/geneMap/X/783?start=-3&limit=10&highlight=783"> Xq28 </a>
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<a href="/entry/309900"> Mucopolysaccharidosis II </a>
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/309900"> 309900 </a>
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<a href="/entry/300823"> IDS </a>
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<a href="/entry/300823"> 300823 </a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because mucopolysaccharidosis type IIIA (MPS3A) is caused by homozygous or compound heterozygous mutation in the gene encoding N-sulfoglucosamine sulfohydrolase (SGSH; <a href="/entry/605270">605270</a>) on chromosome 17q25.</p>
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<strong>Description</strong>
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<p>The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (<a href="#3" class="mim-tip-reference" title="Esposito, S., Balzano, N., Daniele, A., Villani, G. R. D., Perkins, K., Weber, B., Hopwood, J. J., Di Natale, P. <strong>Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects.</strong> Biochim. Biophys. Acta 1501: 1-11, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10727844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10727844</a>] [<a href="https://doi.org/10.1016/s0925-4439(99)00118-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10727844">Esposito et al., 2000</a>). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (<a href="#34" class="mim-tip-reference" title="van de Kamp, J. J. P., Niermeijer, M. F., von Figura, K., Giesberts, M. A. H. <strong>Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C).</strong> Clin. Genet. 20: 152-160, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6796310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6796310</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1981.tb01821.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6796310">van de Kamp et al., 1981</a>) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6796310+10727844" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Mucopolysaccharidosis Type III</em></strong></p><p>
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MPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; <a href="/entry/252920">252920</a>); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; <a href="/entry/252930">252930</a>); and N-acetylglucosamine 6-sulfatase (type D; <a href="/entry/252940">252940</a>).</p>
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<p>In the Sanfilippo syndrome, of which 4 enzymatically distinct forms are recognized, only heparan sulfate is excreted in the urine. The clinical features are severe mental defect with relatively mild somatic features (moderately severe claw hand and visceromegaly, little or no corneal clouding or skeletal, e.g., vertebral, change). The presenting problem may be marked overactivity, destructive tendencies, and other behavioral aberrations in a child of 4 to 6 years of age. <a href="#17" class="mim-tip-reference" title="Maroteaux, P., Frezal, J., Tahbaz-Zadeh, (NI), Lamy, M. <strong>Une observation familiale d'oligophrenie polydystrophique.</strong> J. Genet. Hum. 15: 93-102, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4960406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4960406</a>]" pmid="4960406">Maroteaux et al. (1966)</a> reported a kindred in which 3 separate consanguineous marriages resulted in a total of 4 cases. The radiologic findings in the skeleton are relatively mild and include persistent biconvexity of the vertebral bodies and very thick calvaria. <a href="#12" class="mim-tip-reference" title="Kresse, H., Wiesmann, U., Cantz, M., Hall, C. W., Neufeld, E. F. <strong>Biochemical heterogeneity of the Sanfilippo syndrome: preliminary characterization of two deficient factors.</strong> Biochem. Biophys. Res. Commun. 42: 892-898, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4252428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4252428</a>] [<a href="https://doi.org/10.1016/0006-291x(71)90514-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4252428">Kresse et al. (1971)</a> recognized 3 forms of Sanfilippo syndrome by cocultivation experiments on fibroblasts. Type A has deficiency of heparan sulfate sulfatase (<a href="https://enzyme.expasy.org/EC/3.10.1.1." target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.10.1.1.</a>) (<a href="#11" class="mim-tip-reference" title="Kresse, H., Neufeld, E. F. <strong>The Sanfilippo A corrective factor: purification and mode of action.</strong> J. Biol. Chem. 247: 2164-2170, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4259567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4259567</a>]" pmid="4259567">Kresse and Neufeld, 1972</a>). <a href="#22" class="mim-tip-reference" title="Neufeld, E. F. <strong>Personal Communication.</strong> Los Angeles, Calif. 7/24/1987."None>Neufeld (1987)</a> suggested that for the sake of simplicity the enzyme deficient in this disorder be termed heparan sulfatase. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4960406+4252428+4259567" 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="#36" class="mim-tip-reference" title="van de Kamp, J. J. P. <strong>The Sanfilippo syndrome: a clinical and genetical study of 75 patients in the Netherlands.</strong> Doctoral Thesis, 'S-Gravenhage: J. H. Pasmans (pub.) 1979."None>Van de Kamp (1979)</a> studied 75 cases of Sanfilippo syndrome identified in the Netherlands. Of these, 32 were type A, 18 were type B, and 12 were type C. Six had died before enzymatic studies for classification were performed. The author concluded that the clinical picture was more severe in type A than in types B and C, with shorter life expectancy. The incidence at birth was thought to be about 1 in 24,000. <a href="#34" class="mim-tip-reference" title="van de Kamp, J. J. P., Niermeijer, M. F., von Figura, K., Giesberts, M. A. H. <strong>Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C).</strong> Clin. Genet. 20: 152-160, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6796310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6796310</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1981.tb01821.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6796310">Van de Kamp et al. (1981)</a> reiterated the milder course in type B with less severe dementia, and the earlier onset, greater severity, and earlier death in type A. They studied 73 patients (36 with type A, 23 with type B, 14 with type C). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6796310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Lindor, N. M., Hoffman, A., O'Brien, J. F., Hanson, N. P., Thompson, J. N. <strong>Sanfilippo syndrome type A in two adult sibs.</strong> Am. J. Med. Genet. 53: 241-244, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7856659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7856659</a>] [<a href="https://doi.org/10.1002/ajmg.1320530308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7856659">Lindor et al. (1994)</a> described an adult sister and brother with milder manifestations of MPS IIIA than in most cases. The family came to attention because of psychiatric manifestations in the sister at age 24 requiring admission to a closed psychiatric ward. A brother, then 30 years old, had required special education from the first grade and had worn hearing aids from the age of 7. The parents were nonconsanguineous, the mother being of French and Irish ancestry and the father of German ancestry. Neither sib had strikingly coarse facial characteristics. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7856659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#33" class="mim-tip-reference" title="Valstar, M. J., Neijs, S., Bruggenwirth, H. T., Olmer, R., Ruijter, G. J., Wevers, R. A., van Diggelen, O. P., Poorthuis, B. J., Halley, D. J., Wijburg, F. A. <strong>Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.</strong> Ann. Neurol. 68: 876-887, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21061399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21061399</a>] [<a href="https://doi.org/10.1002/ana.22092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21061399">Valstar et al. (2010)</a> retrospectively reviewed the clinical features of 92 patients with MPS IIIA, including 32 living and 60 deceased individuals. There was wide phenotypic variability, and patients could be divided into 3 main groups: a severe, intermediate, and attenuated phenotype. Those with a severe phenotype became completely dependent of care and wheelchair-bound in their teenage years, whereas those with the intermediate phenotype had a slower regression of abilities and could live into adulthood. Those with the attenuated form reached much higher developmental levels and could achieve some speech and walking, lasting well into adulthood. Among the whole cohort, most had normal development in the first year of life, with onset of clinical symptoms at a mean age of 2.5 years. Symptoms included developmental delay, delayed speech development and behavioral problems. Behavioral problems included restlessness, temper tantrums, and crying fits, but these tended to decline with age as neurologic deterioration progressed. Other symptoms included sleeping and hearing problems, recurrent upper airway infections, diarrhea, and epilepsy. The median age at death was 18 years, most commonly due to pneumonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21061399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#32" class="mim-tip-reference" title="Toone, J. R., Applegarth, D. A. <strong>Carrier detection in Sanfilippo A syndrome.</strong> Clin. Genet. 33: 401-403, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3139339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3139339</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1988.tb03471.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3139339">Toone and Applegarth (1988)</a> used an enzymatic method to identify heterozygotes by studying leukocytes or fibroblasts. <a href="#31" class="mim-tip-reference" title="Stone, J., Brimble, A., Pennock, C. A. <strong>Carrier detection for Sanfilippo A syndrome.</strong> J. Inherit. Metab. Dis. 13: 184-186, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2116549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2116549</a>] [<a href="https://doi.org/10.1007/BF01799684" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2116549">Stone et al. (1990)</a> found that in an assay at 55 degrees C heterozygous carriers could be distinguished with complete certainty from normal controls. Twenty-one obligate carriers in 12 families were studied. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3139339+2116549" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For the sulfamidase assay in chorionic villi and amniotic fluid cells, <a href="#10" class="mim-tip-reference" title="Kleijer, W. J., Karpova, E. A., Geilen, G. C., Keulemans, J. L. M., Huijmans, J. G. M., Tsvetkova, I. V., Voznyi, Y. V., Van Diggelen, O. P. <strong>Prenatal diagnosis of Sanfilippo A syndrome: experience in 35 pregnancies at risk and the use of a new fluorogenic substrate for the heparin sulphamidase assay.</strong> Prenatal Diag. 16: 829-835, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8905897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8905897</a>] [<a href="https://doi.org/10.1002/(SICI)1097-0223(199609)16:9<829::AID-PD953>3.0.CO;2-H" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8905897">Kleijer et al. (1996)</a> used an artificial substrate and a 2-step assay. Unequivocal assignment of the fetal status in 5 affected pregnancies and 7 pregnancies with a normal outcome confirmed the reliability of the test, which in every respect was more convenient than the conventional method using (35)S-radiolabeled heparin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8905897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Severe behavioral disturbance is a very common feature of Sanfilippo syndrome and one of the more difficult aspects of the disorder to manage. <a href="#24" class="mim-tip-reference" title="Robertson, S. P., Klug, G. L., Rogers, J. G. <strong>Cerebrospinal fluid shunts in the management of behavioural problems in Sanfilippo syndrome (MPS III).</strong> Europ. J. Pediat. 157: 653-655, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9727849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9727849</a>] [<a href="https://doi.org/10.1007/s004310050904" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9727849">Robertson et al. (1998)</a> described a series of 6 patients with MPS III who had cerebrospinal shunts inserted in an attempt to ameliorate behavior that had proved refractory to conventional treatment. Symptoms improved significantly in all 6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9727849" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Sivakumur, P., Wraith, J. E. <strong>Bone marrow transplantation in mucopolysaccharidosis type IIIA: a comparison of an early treated patient with his untreated sibling.</strong> J. Inherit. Metab. Dis. 22: 849-850, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10518291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10518291</a>] [<a href="https://doi.org/10.1023/a:1005526628598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10518291">Sivakumur and Wraith (1999)</a> found that bone marrow transplantation did not affect the prognosis favorably, even though neurologic manifestations were not evident. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10518291" 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="McDowell, G. A., Cowan, T. M., Blitzer, M. G., Greene, C. L. <strong>Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: implications for evaluation of new therapies.</strong> Am. J. Med. Genet. 47: 1092-1095, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7507293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7507293</a>] [<a href="https://doi.org/10.1002/ajmg.1320470732" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7507293">McDowell et al. (1993)</a> described a family in which sibs with comparable deficiencies of sulfamidase had rather different clinical severity and disease progression. The cases underscored the need for caution in counseling and the limitations of using sibs as controls in evaluating the outcome of treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7507293" 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="#38" class="mim-tip-reference" title="Wijburg, F. A., Heap, F., Rust, S., de Ruijter, J., Tump, E., Marchal, J. P., Nestrasil, I., Shapiro, E., Jones, S. A., Alexanderian, D. <strong>Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.</strong> Molec. Genet. Metab. 134: 317-322, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34600820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34600820</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.09.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34600820">Wijburg et al. (2021)</a> reported results of an open-label extension study of intrathecal recombinant heparan-N-sulfatase (rhHNS IT) treatment in 12 patients with MPS III with an average age of 9.6 years. The study participants, who had previously completed a phase 1/2 study of rhHNS IT, completed the extension study with a median treatment duration of 264.4 weeks. Overall, the therapy was well tolerated; however, it did not slow neurocognitive decline in the patients and the study was terminated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34600820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In British Columbia, between 1952 and 1986, 4 cases of MPS IIIA were observed, giving a frequency of 1 in 324,617 live births (<a href="#16" class="mim-tip-reference" title="Lowry, R. B., Applegarth, D. A., Toone, J. R., MacDonald, E., Thunem, N. Y. <strong>An update on the frequency of mucopolysaccharide syndromes in British Columbia.</strong> Hum. Genet. 85: 389-390, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2118475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2118475</a>] [<a href="https://doi.org/10.1007/BF00206770" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2118475">Lowry et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2118475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using multiple ascertainment sources, <a href="#21" class="mim-tip-reference" title="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://doi.org/10.1002/ajmg.a.20314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" 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>In the Netherlands, the incidence of MPS IIIA is estimated at 1.16 to 0.88 per 100,000 live births (<a href="#23" class="mim-tip-reference" title="Poorthuis, B. J. H. M., Wevers, R. A., Kleijer, W. J., Groener, J. E. M., de Jong, J. G. N., van Weely, S., Niezen-Koning, K. E., van Diggelen, O. P. <strong>The frequency of lysosomal storage diseases in The Netherlands.</strong> Hum. Genet. 105: 151-156, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10480370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10480370</a>] [<a href="https://doi.org/10.1007/s004399900075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10480370">Poorthuis et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10480370" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Khan, S. A., Peracha, H., Ballhausen, D., Wiesbauer, A., Rohrbach, M., Gautschi, M., Mason, R. W., Giugliani, R., Suzuki, Y., Orii, K. E., Orii, T., Tomatsu, S. <strong>Epidemiology of mucopolysaccharidoses.</strong> Molec. Genet. Metab. 121: 227-240, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28595941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28595941</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28595941[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2017.05.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28595941">Khan et al. (2017)</a> analyzed the epidemiology of the mucopolysaccharidoses in Japan and Switzerland and compared them to similar data from other countries. Data for Japan was collected between 1982 and 2009, and 467 cases with MPS were identified. The combined birth prevalence was 1.53 per 100,000 live births. The highest birth prevalence was 0.84 for MPS II (<a href="/entry/309900">309900</a>), accounting for 55% of all MPS. MPS I (see <a href="/entry/607014">607014</a>), III, and IV (see <a href="/entry/253000">253000</a>) accounted for 15%, 16%, and 10%, respectively. MPS VI (<a href="/entry/253200">253200</a>) and VII (<a href="/entry/253220">253220</a>) were more rare and accounted for 1.7% and 1.3%, respectively. A retrospective epidemiologic data collection was performed in Switzerland between 1975 and 2008 (34 years), and 41 living MPS patients were identified. The combined birth prevalence was 1.56 per 100,000 live births. The highest birth prevalence was 0.46 for MPS II, accounting for 29% of all MPS. MPS I, III, and IV accounted for 12%, 24%, and 24%, respectively. As seen in the Japanese population, MPS VI and VII were more rare and accounted for 7.3% and 2.4%, respectively. The high birth prevalence of MPS II in Japan was comparable to that seen in other East Asian countries where this MPS accounted for approximately 50% of all forms of MPS. Birth prevalence was also similar in some European countries (Germany, Northern Ireland, Portugal and the Netherlands) although the prevalence of other forms of MPS was also reported to be higher in these countries. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28595941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>For a discussion of the molecular genetics of Sanfilippo syndrome A, and a listing of disease-causing allelic variants of the N-sulfoglucosamine sulfohydrolase gene (SGSH), see <a href="/entry/605270">605270</a>.</p>
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<p><a href="#33" class="mim-tip-reference" title="Valstar, M. J., Neijs, S., Bruggenwirth, H. T., Olmer, R., Ruijter, G. J., Wevers, R. A., van Diggelen, O. P., Poorthuis, B. J., Halley, D. J., Wijburg, F. A. <strong>Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.</strong> Ann. Neurol. 68: 876-887, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21061399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21061399</a>] [<a href="https://doi.org/10.1002/ana.22092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21061399">Valstar et al. (2010)</a> retrospectively reviewed the clinical features of 92 patients with MPS IIIA, including 32 living and 60 deceased individuals. There was wide phenotypic variability that correlated with genotype. In particular, those with 1 or more S298P (<a href="/entry/605270#0013">605270.0013</a>) mutant alleles had an attenuated phenotype, with a significantly longer preservation of psychomotor functions and a longer survival. The most frequent pathogenic mutations were R245H (<a href="/entry/605270#0001">605270.0001</a>), Q380R, S66W (<a href="/entry/605270#0003">605270.0003</a>), and 1080delC, all of which were associated with the classic severe phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21061399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Fischer, A., Carmichael, K. P., Munnell, J. F., Jhabvala, P., Thompson, J. N., Matalon, R., Jezyk, P. F., Wang, P., Giger, U. <strong>Sulfamidase deficiency in a family of dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A).</strong> Pediat. Res. 44: 74-82, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9667374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9667374</a>] [<a href="https://doi.org/10.1203/00006450-199807000-00012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9667374">Fischer et al. (1998)</a> identified sulfamidase deficiency in 2 adult wire-haired dachshund littermates. Clinical and pathologic features paralleled the human disorder. Both dogs exhibited progressive neurologic disease without apparent somatic involvement. Pelvic limb ataxia was observed when the dogs were 3 years old and gradually progressed within 1 to 2 years to severe generalized spinocerebellar ataxia. Mentation remained normal throughout the course of the disease. A positive toluidine blue spot test of urine indicated a mucopolysaccharide storage disorder in both dogs; the diagnosis of MPS IIIA was confirmed by documentation of urinary excretion and tissue accumulation of heparan sulfate and decreased sulfamidase activity in fibroblasts and hepatic tissue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9667374" 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>To identify the molecular defect in the type A Sanfilippo syndrome identified by <a href="#4" class="mim-tip-reference" title="Fischer, A., Carmichael, K. P., Munnell, J. F., Jhabvala, P., Thompson, J. N., Matalon, R., Jezyk, P. F., Wang, P., Giger, U. <strong>Sulfamidase deficiency in a family of dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A).</strong> Pediat. Res. 44: 74-82, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9667374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9667374</a>] [<a href="https://doi.org/10.1203/00006450-199807000-00012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9667374">Fischer et al. (1998)</a>, <a href="#1" class="mim-tip-reference" title="Aronovich, E. L., Carmichael, K. P., Morizono, H., Koutlas, I. G., Deanching, M., Hoganson, G., Fischer, A., Whitley, C. B. <strong>Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds.</strong> Genomics 68: 80-84, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10950929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10950929</a>] [<a href="https://doi.org/10.1006/geno.2000.6275" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10950929">Aronovich et al. (2000)</a> determined the nucleotide sequence of the normal canine heparan sulfate sulfamidase gene and cDNA, using PCR-based approaches. The coding region showed 89% amino acid sequence homology with human HSS. All exon-intron borders were conserved. The authors identified a 3-bp deletion, 737-739delCCA, resulting in loss of threonine at position 246 in both alleles of an affected animal. The same mutation was found in 1 allele of a healthy littermate. The canine model should be useful in the evaluation of gene therapy for this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9667374+10950929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bhattacharyya, R., Gliddon, B., Beccari, T., Hopwood, J. J., Stanley, P. <strong>A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant.</strong> Glycobiology 11: 99-103, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11181566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11181566</a>] [<a href="https://doi.org/10.1093/glycob/11.1.99" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11181566">Bhattacharyya et al. (2001)</a> described a spontaneous mouse mutant of MPS IIIa resulting from an asp31-to-asn (D31N) mutation in the murine sulfatase gene. Affected mice die at about 10 months of age exhibiting a distended bladder and hepatosplenomegaly. Brain sections show distended lysosomes, some with typical zebra body morphology, and many containing periodic-acid Schiff positive storage material. Urinalysis revealed an accumulation of heparan sulfate. Assays of a variety of lysosomal hydrolases in brain, liver, and kidney extracts uncovered a specific defect in sulfamidase activity, which was reduced by about 97%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11181566" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Hemsley, K. M., Hopwood, J. J. <strong>Development of motor deficits in a murine model of mucopolysaccharidosis type IIIA (MPS-IIIA).</strong> Behav. Brain Res. 158: 191-199, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15698885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15698885</a>] [<a href="https://doi.org/10.1016/j.bbr.2004.08.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15698885">Hemsley and Hopwood (2005)</a> found that the MPS IIIA mouse developed impaired open-field locomotor activity at 3 weeks of age. Abnormalities in tests of gait, grip strength, and in the assessment of the negative geotaxis response were observable from about 15 weeks of age. Behavioral changes were often detected in male MPS IIIA mice before they appeared in females. The authors postulated that axonal degeneration was responsible for the deficits. The observations provided insight into the chronology of pathologic changes within the murine MPS IIIA brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15698885" 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 brain tissue of MPS IIIA mice, <a href="#27" class="mim-tip-reference" title="Settembre, C., Fraldi, A., Jahreiss, L., Spampanato, C., Venturi, C., Medina, D., de Pablo, R., Tacchetti, C., Rubinsztein, D. C., Ballabio, A. <strong>A block of autophagy in lysosomal storage disorders.</strong> Hum. Molec. Genet. 17: 119-129, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17913701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17913701</a>] [<a href="https://doi.org/10.1093/hmg/ddm289" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17913701">Settembre et al. (2008)</a> observed increased autophagosomes resulting from impaired autophagosome-lysosome fusion. Cells showed a decreased ability to degrade aggregation-prone proteins. There was also an accumulation of ubiquitin-positive inclusions and increased numbers of dysfunctional mitochondria. Similar findings were observed in a mouse model of another lysosomal storage disorder, multiple sulfatase deficiency (MSD; <a href="/entry/272200">272200</a>). The findings were consistent with these diseases being disorders of autophagy, which may be a common mechanism in neurodegenerative lysosomal storage diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17913701" 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="Hassiotis, S., Jolly, R. D., Hemsley, K. M. <strong>Development of cerebellar pathology in the canine model of mucopolysaccharidosis type IIIA (MPS IIIA).</strong> Molec. Genet. Metab. 113: 283-293, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25453402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25453402</a>] [<a href="https://doi.org/10.1016/j.ymgme.2014.10.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25453402">Hassiotis et al. (2014)</a> studied the development of cerebellar pathology in a canine model of MPS3A (Huntaway dog model) and observed that Purkinje cells were present in affected dogs aged up to and including 30.9 months; however, by 40.9 months, only approximately 12% remained, coincident with the onset of clinical signs. Primary and secondary substrate accumulation and inflammation were detected as early as 2.2 months, and axonal spheroids were observed from 4.3 months in deep cerebellar nuclei and later (11.6 months) in cerebellar white matter tracts. Degenerating neurons and apoptotic cells were not observed at any time. <a href="#6" class="mim-tip-reference" title="Hassiotis, S., Jolly, R. D., Hemsley, K. M. <strong>Development of cerebellar pathology in the canine model of mucopolysaccharidosis type IIIA (MPS IIIA).</strong> Molec. Genet. Metab. 113: 283-293, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25453402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25453402</a>] [<a href="https://doi.org/10.1016/j.ymgme.2014.10.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25453402">Hassiotis et al. (2014)</a> suggested that cell-autonomous mechanisms may contribute to Purkinje cell death in the MPS3A dog. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25453402" 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 href="#Greenwood1978" class="mim-tip-reference" title="Greenwood, R. S., Hillman, R. E., Alcala, H., Sly, W. S. <strong>Sanfilippo A syndrome in the fetus.</strong> Clin. Genet. 13: 241-250, 1978.">Greenwood et al. (1978)</a>; <a href="#Kleijer1986" class="mim-tip-reference" title="Kleijer, W. J., Janse, H. C., Vosters, R. P. L., Niermeijer, M. F., van de Kamp, J. J. P. <strong>First-trimester diagnosis of mucopolysaccharidosis IIIA (Sanfilippo A disease). (Letter)</strong> New Eng. J. Med. 314: 185-186, 1986.">Kleijer et al. (1986)</a>; <a href="#Langer1964" class="mim-tip-reference" title="Langer, L. O., Jr. <strong>The radiographic manifestations of the HS-mucopolysaccharidosis of Sanfilippo, with discussion of this condition in relation to the other mucopolysaccharidoses and a classification of these fundamentally similar entities.</strong> Ann. Radiol. 7: 315-325, 1964.">Langer (1964)</a>; <a href="#Liem1976" class="mim-tip-reference" title="Liem, K. O., Giesberts, M. A. H., van de Kamp, J. J. P., Van Pelt, J. F., Hooghwinkel, G. J. M. <strong>Sanfilippo B disease in two related sibships. Biochemical studies in patients, parents and sibs.</strong> Clin. Genet. 10: 273-278, 1976.">Liem
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et al. (1976)</a>; <a href="#Matalon1974" class="mim-tip-reference" title="Matalon, R., Dorfman, A. <strong>Sanfilippo A syndrome: sulfamidase deficiency in cultured skin fibroblasts and liver.</strong> J. Clin. Invest. 54: 907-912, 1974.">Matalon and Dorfman (1974)</a>; <a href="#McKusick1965" class="mim-tip-reference" title="McKusick, V. A., Kaplan, D., Wise, D., Hanley, W. B., Suddarth, S. B., Sevick, M. E., Maumenee, A. E. <strong>The genetic mucopolysaccharidoses.</strong> Medicine 44: 445-483, 1965.">McKusick et al. (1965)</a>; <a href="#Sanfilippo1963" class="mim-tip-reference" title="Sanfilippo, S. J., Podosin, R., Langer, L. O., Jr., Good, R. A. <strong>Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type).</strong> J. Pediat. 63: 837-838, 1963.">Sanfilippo et al. (1963)</a>; <a href="#Schmidt1977" class="mim-tip-reference" title="Schmidt, R., von Figura, K., Paschke, E., Kresse, H. <strong>Sanfilippo's disease type A: sulfamidase activity in peripheral leukocytes of normal, heterozygous and homozygous individuals.</strong> Clin. Chim. Acta 80: 7-16, 1977.">Schmidt et al. (1977)</a>; <a href="#Singh1974" class="mim-tip-reference" title="Singh, J., Donnelly, P. V., DiFerrante, N. M., Nichols, B. L., Niebes, P. <strong>Sanfilippo disease: differentiation of types A and B by an analytical method.</strong> J. Lab. Clin. Med. 84: 438-450, 1974.">Singh et al. (1974)</a>; <a href="#Spranger1967" class="mim-tip-reference" title="Spranger, J. W., Teller, W., Kosenow, W., Murken, J. D., Eckert-Huseman, E. <strong>Die HS-mucopolysaccharidose von Sanfilippo (polydystrophe oligophrenie). Bericht ueber 10 Patienten.</strong> Z. Kinderheilk. 101: 71-84, 1967.">Spranger et al. (1967)</a>; <a href="#van1976" class="mim-tip-reference" title="van de Kamp, J. J. P., Van Pelt, J. F., Liem, K. O., Giesberts, M. A. H., Niepoth, L. T. M., Staalman, C. R. <strong>Clinical variability in Sanfilippo B disease: a report on six patients in two related sibships.</strong> Clin. Genet. 10: 279-284, 1976.">van de Kamp et al. (1976)</a>; <a href="#Wallace1966" class="mim-tip-reference" title="Wallace, B. J., Kaplan, D., Adachi, M., Schneck, L., Volk, B. W. <strong>Mucopolysaccharidosis type III: morphologic and biochemical studies of two siblings with Sanfilippo syndrome.</strong> Arch. Path. 82: 462-473, 1966.">Wallace et al.
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<strong>Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds.</strong>
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Genomics 68: 80-84, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10950929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10950929</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10950929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant.</strong>
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Glycobiology 11: 99-103, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11181566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11181566</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11181566" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Esposito, S., Balzano, N., Daniele, A., Villani, G. R. D., Perkins, K., Weber, B., Hopwood, J. J., Di Natale, P.
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<strong>Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects.</strong>
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Biochim. Biophys. Acta 1501: 1-11, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10727844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10727844</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10727844" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fischer, A., Carmichael, K. P., Munnell, J. F., Jhabvala, P., Thompson, J. N., Matalon, R., Jezyk, P. F., Wang, P., Giger, U.
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<strong>Sulfamidase deficiency in a family of dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A).</strong>
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Pediat. Res. 44: 74-82, 1998.
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[<a href="https://doi.org/10.1203/00006450-199807000-00012" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1978.tb01177.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2014.10.008" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.bbr.2004.08.019" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2017.05.016" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM198601163140319" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1097-0223(199609)16:9<829::AID-PD953>3.0.CO;2-H" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0006-291x(71)90514-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320530308" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI107830" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004399900075" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004310050904" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0009-8981(77)90258-3" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddm289" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1023/a:1005526628598" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01799684" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1988.tb03471.x" target="_blank">Full Text</a>]
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Valstar, M. J., Neijs, S., Bruggenwirth, H. T., Olmer, R., Ruijter, G. J., Wevers, R. A., van Diggelen, O. P., Poorthuis, B. J., Halley, D. J., Wijburg, F. A.
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[<a href="https://doi.org/10.1002/ana.22092" target="_blank">Full Text</a>]
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<strong>Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C).</strong>
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[<a href="https://doi.org/10.1111/j.1399-0004.1981.tb01821.x" target="_blank">Full Text</a>]
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<a id="van de Kamp1976" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1111/j.1399-0004.1976.tb00049.x" target="_blank">Full Text</a>]
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<a id="van de Kamp1979" class="mim-anchor"></a>
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<strong>The Sanfilippo syndrome: a clinical and genetical study of 75 patients in the Netherlands.</strong>
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<a id="Wijburg2021" class="mim-anchor"></a>
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Wijburg, F. A., Heap, F., Rust, S., de Ruijter, J., Tump, E., Marchal, J. P., Nestrasil, I., Shapiro, E., Jones, S. A., Alexanderian, D.
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<strong>Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.</strong>
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[<a href="https://doi.org/10.1016/j.ymgme.2021.09.003" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 02/17/2022
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 05/29/2018<br>Ada Hamosh - updated : 01/20/2015<br>Cassandra L. Kniffin - updated : 3/21/2011<br>Cassandra L. Kniffin - updated : 9/14/2009<br>Victor A. McKusick - updated : 1/5/2004<br>Victor A. McKusick - updated : 9/27/2000<br>Victor A. McKusick - updated : 9/1/2000<br>Victor A. McKusick - updated : 8/16/2000<br>Paul J. Converse - updated : 6/7/2000<br>Victor A. McKusick - updated : 1/7/2000<br>Wilson H. Y. Lo - updated : 11/16/1999<br>Victor A. McKusick - updated : 10/26/1999<br>Victor A. McKusick - updated : 11/10/1998<br>Victor A. McKusick - updated : 10/9/1998<br>Victor A. McKusick - updated : 8/24/1998<br>Victor A. McKusick - updated : 4/29/1998<br>Victor A. McKusick - updated : 1/12/1998<br>Victor A. McKusick - updated : 6/23/1997
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 02/17/2022
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<span class="mim-text-font">
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alopez : 05/29/2018<br>alopez : 05/29/2018<br>alopez : 01/20/2015<br>carol : 2/12/2014<br>mcolton : 2/12/2014<br>terry : 4/12/2012<br>wwang : 3/28/2011<br>ckniffin : 3/21/2011<br>wwang : 10/6/2009<br>ckniffin : 9/14/2009<br>carol : 1/14/2004<br>carol : 1/14/2004<br>cwells : 1/5/2004<br>cwells : 2/25/2002<br>cwells : 2/20/2002<br>terry : 2/15/2002<br>mcapotos : 10/17/2000<br>mcapotos : 10/13/2000<br>terry : 9/27/2000<br>alopez : 9/15/2000<br>alopez : 9/15/2000<br>mcapotos : 9/8/2000<br>mcapotos : 9/6/2000<br>terry : 9/1/2000<br>carol : 8/29/2000<br>terry : 8/16/2000<br>carol : 6/7/2000<br>carol : 1/28/2000<br>terry : 1/7/2000<br>carol : 11/16/1999<br>carol : 10/27/1999<br>terry : 10/26/1999<br>alopez : 2/17/1999<br>carol : 11/18/1998<br>terry : 11/10/1998<br>terry : 10/9/1998<br>carol : 10/9/1998<br>carol : 8/25/1998<br>terry : 8/24/1998<br>carol : 5/8/1998<br>terry : 4/29/1998<br>alopez : 1/12/1998<br>dholmes : 1/6/1998<br>terry : 7/10/1997<br>terry : 6/23/1997<br>terry : 6/18/1997<br>jamie : 1/8/1997<br>terry : 1/6/1997<br>mark : 1/3/1997<br>mark : 12/12/1996<br>terry : 12/9/1996<br>carol : 6/22/1996<br>mark : 6/19/1996<br>mimman : 2/8/1996<br>terry : 2/6/1996<br>mark : 12/18/1995<br>terry : 12/15/1995<br>carol : 12/20/1994<br>davew : 6/3/1994<br>mimadm : 4/17/1994<br>warfield : 4/15/1994<br>carol : 11/29/1993<br>carol : 11/22/1993
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<span class="mim-font">
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<strong>#</strong> 252900
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MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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MPS IIIA<br />
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SANFILIPPO SYNDROME A<br />
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HEPARAN SULFATE SULFATASE DEFICIENCY<br />
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SULFAMIDASE DEFICIENCY
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<strong>SNOMEDCT:</strong> 41572006;
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<strong>ICD10CM:</strong> E76.22;
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<strong>ORPHA:</strong> 581, 79269;
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<strong>DO:</strong> 0111395;
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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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<thead>
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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">
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17q25.3
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Mucopolysaccharidosis type IIIA (Sanfilippo A)
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<span class="mim-font">
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252900
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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SGSH
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<span class="mim-font">
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605270
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because mucopolysaccharidosis type IIIA (MPS3A) is caused by homozygous or compound heterozygous mutation in the gene encoding N-sulfoglucosamine sulfohydrolase (SGSH; 605270) on chromosome 17q25.</p>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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<p>The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. </p><p><strong><em>Genetic Heterogeneity of Mucopolysaccharidosis Type III</em></strong></p><p>
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MPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; 252920); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; 252930); and N-acetylglucosamine 6-sulfatase (type D; 252940).</p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>In the Sanfilippo syndrome, of which 4 enzymatically distinct forms are recognized, only heparan sulfate is excreted in the urine. The clinical features are severe mental defect with relatively mild somatic features (moderately severe claw hand and visceromegaly, little or no corneal clouding or skeletal, e.g., vertebral, change). The presenting problem may be marked overactivity, destructive tendencies, and other behavioral aberrations in a child of 4 to 6 years of age. Maroteaux et al. (1966) reported a kindred in which 3 separate consanguineous marriages resulted in a total of 4 cases. The radiologic findings in the skeleton are relatively mild and include persistent biconvexity of the vertebral bodies and very thick calvaria. Kresse et al. (1971) recognized 3 forms of Sanfilippo syndrome by cocultivation experiments on fibroblasts. Type A has deficiency of heparan sulfate sulfatase (EC 3.10.1.1.) (Kresse and Neufeld, 1972). Neufeld (1987) suggested that for the sake of simplicity the enzyme deficient in this disorder be termed heparan sulfatase. </p><p>Van de Kamp (1979) studied 75 cases of Sanfilippo syndrome identified in the Netherlands. Of these, 32 were type A, 18 were type B, and 12 were type C. Six had died before enzymatic studies for classification were performed. The author concluded that the clinical picture was more severe in type A than in types B and C, with shorter life expectancy. The incidence at birth was thought to be about 1 in 24,000. Van de Kamp et al. (1981) reiterated the milder course in type B with less severe dementia, and the earlier onset, greater severity, and earlier death in type A. They studied 73 patients (36 with type A, 23 with type B, 14 with type C). </p><p>Lindor et al. (1994) described an adult sister and brother with milder manifestations of MPS IIIA than in most cases. The family came to attention because of psychiatric manifestations in the sister at age 24 requiring admission to a closed psychiatric ward. A brother, then 30 years old, had required special education from the first grade and had worn hearing aids from the age of 7. The parents were nonconsanguineous, the mother being of French and Irish ancestry and the father of German ancestry. Neither sib had strikingly coarse facial characteristics. </p><p>Valstar et al. (2010) retrospectively reviewed the clinical features of 92 patients with MPS IIIA, including 32 living and 60 deceased individuals. There was wide phenotypic variability, and patients could be divided into 3 main groups: a severe, intermediate, and attenuated phenotype. Those with a severe phenotype became completely dependent of care and wheelchair-bound in their teenage years, whereas those with the intermediate phenotype had a slower regression of abilities and could live into adulthood. Those with the attenuated form reached much higher developmental levels and could achieve some speech and walking, lasting well into adulthood. Among the whole cohort, most had normal development in the first year of life, with onset of clinical symptoms at a mean age of 2.5 years. Symptoms included developmental delay, delayed speech development and behavioral problems. Behavioral problems included restlessness, temper tantrums, and crying fits, but these tended to decline with age as neurologic deterioration progressed. Other symptoms included sleeping and hearing problems, recurrent upper airway infections, diarrhea, and epilepsy. The median age at death was 18 years, most commonly due to pneumonia. </p>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Toone and Applegarth (1988) used an enzymatic method to identify heterozygotes by studying leukocytes or fibroblasts. Stone et al. (1990) found that in an assay at 55 degrees C heterozygous carriers could be distinguished with complete certainty from normal controls. Twenty-one obligate carriers in 12 families were studied. </p><p>For the sulfamidase assay in chorionic villi and amniotic fluid cells, Kleijer et al. (1996) used an artificial substrate and a 2-step assay. Unequivocal assignment of the fetal status in 5 affected pregnancies and 7 pregnancies with a normal outcome confirmed the reliability of the test, which in every respect was more convenient than the conventional method using (35)S-radiolabeled heparin. </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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</h4>
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<span class="mim-text-font">
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<p>Severe behavioral disturbance is a very common feature of Sanfilippo syndrome and one of the more difficult aspects of the disorder to manage. Robertson et al. (1998) described a series of 6 patients with MPS III who had cerebrospinal shunts inserted in an attempt to ameliorate behavior that had proved refractory to conventional treatment. Symptoms improved significantly in all 6. </p><p>Sivakumur and Wraith (1999) found that bone marrow transplantation did not affect the prognosis favorably, even though neurologic manifestations were not evident. </p><p>McDowell et al. (1993) described a family in which sibs with comparable deficiencies of sulfamidase had rather different clinical severity and disease progression. The cases underscored the need for caution in counseling and the limitations of using sibs as controls in evaluating the outcome of treatment. </p><p>Wijburg et al. (2021) reported results of an open-label extension study of intrathecal recombinant heparan-N-sulfatase (rhHNS IT) treatment in 12 patients with MPS III with an average age of 9.6 years. The study participants, who had previously completed a phase 1/2 study of rhHNS IT, completed the extension study with a median treatment duration of 264.4 weeks. Overall, the therapy was well tolerated; however, it did not slow neurocognitive decline in the patients and the study was terminated. </p>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In British Columbia, between 1952 and 1986, 4 cases of MPS IIIA were observed, giving a frequency of 1 in 324,617 live births (Lowry et al., 1990). </p><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>In the Netherlands, the incidence of MPS IIIA is estimated at 1.16 to 0.88 per 100,000 live births (Poorthuis et al., 1999). </p><p>Khan et al. (2017) analyzed the epidemiology of the mucopolysaccharidoses in Japan and Switzerland and compared them to similar data from other countries. Data for Japan was collected between 1982 and 2009, and 467 cases with MPS were identified. The combined birth prevalence was 1.53 per 100,000 live births. The highest birth prevalence was 0.84 for MPS II (309900), accounting for 55% of all MPS. MPS I (see 607014), III, and IV (see 253000) accounted for 15%, 16%, and 10%, respectively. MPS VI (253200) and VII (253220) were more rare and accounted for 1.7% and 1.3%, respectively. A retrospective epidemiologic data collection was performed in Switzerland between 1975 and 2008 (34 years), and 41 living MPS patients were identified. The combined birth prevalence was 1.56 per 100,000 live births. The highest birth prevalence was 0.46 for MPS II, accounting for 29% of all MPS. MPS I, III, and IV accounted for 12%, 24%, and 24%, respectively. As seen in the Japanese population, MPS VI and VII were more rare and accounted for 7.3% and 2.4%, respectively. The high birth prevalence of MPS II in Japan was comparable to that seen in other East Asian countries where this MPS accounted for approximately 50% of all forms of MPS. Birth prevalence was also similar in some European countries (Germany, Northern Ireland, Portugal and the Netherlands) although the prevalence of other forms of MPS was also reported to be higher in these countries. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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<span class="mim-text-font">
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<p>For a discussion of the molecular genetics of Sanfilippo syndrome A, and a listing of disease-causing allelic variants of the N-sulfoglucosamine sulfohydrolase gene (SGSH), see 605270.</p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Valstar et al. (2010) retrospectively reviewed the clinical features of 92 patients with MPS IIIA, including 32 living and 60 deceased individuals. There was wide phenotypic variability that correlated with genotype. In particular, those with 1 or more S298P (605270.0013) mutant alleles had an attenuated phenotype, with a significantly longer preservation of psychomotor functions and a longer survival. The most frequent pathogenic mutations were R245H (605270.0001), Q380R, S66W (605270.0003), and 1080delC, all of which were associated with the classic severe phenotype. </p>
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<strong>Animal Model</strong>
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<p>Fischer et al. (1998) identified sulfamidase deficiency in 2 adult wire-haired dachshund littermates. Clinical and pathologic features paralleled the human disorder. Both dogs exhibited progressive neurologic disease without apparent somatic involvement. Pelvic limb ataxia was observed when the dogs were 3 years old and gradually progressed within 1 to 2 years to severe generalized spinocerebellar ataxia. Mentation remained normal throughout the course of the disease. A positive toluidine blue spot test of urine indicated a mucopolysaccharide storage disorder in both dogs; the diagnosis of MPS IIIA was confirmed by documentation of urinary excretion and tissue accumulation of heparan sulfate and decreased sulfamidase activity in fibroblasts and hepatic tissue. </p><p>To identify the molecular defect in the type A Sanfilippo syndrome identified by Fischer et al. (1998), Aronovich et al. (2000) determined the nucleotide sequence of the normal canine heparan sulfate sulfamidase gene and cDNA, using PCR-based approaches. The coding region showed 89% amino acid sequence homology with human HSS. All exon-intron borders were conserved. The authors identified a 3-bp deletion, 737-739delCCA, resulting in loss of threonine at position 246 in both alleles of an affected animal. The same mutation was found in 1 allele of a healthy littermate. The canine model should be useful in the evaluation of gene therapy for this disorder. </p><p>Bhattacharyya et al. (2001) described a spontaneous mouse mutant of MPS IIIa resulting from an asp31-to-asn (D31N) mutation in the murine sulfatase gene. Affected mice die at about 10 months of age exhibiting a distended bladder and hepatosplenomegaly. Brain sections show distended lysosomes, some with typical zebra body morphology, and many containing periodic-acid Schiff positive storage material. Urinalysis revealed an accumulation of heparan sulfate. Assays of a variety of lysosomal hydrolases in brain, liver, and kidney extracts uncovered a specific defect in sulfamidase activity, which was reduced by about 97%. </p><p>Hemsley and Hopwood (2005) found that the MPS IIIA mouse developed impaired open-field locomotor activity at 3 weeks of age. Abnormalities in tests of gait, grip strength, and in the assessment of the negative geotaxis response were observable from about 15 weeks of age. Behavioral changes were often detected in male MPS IIIA mice before they appeared in females. The authors postulated that axonal degeneration was responsible for the deficits. The observations provided insight into the chronology of pathologic changes within the murine MPS IIIA brain. </p><p>In brain tissue of MPS IIIA mice, Settembre et al. (2008) observed increased autophagosomes resulting from impaired autophagosome-lysosome fusion. Cells showed a decreased ability to degrade aggregation-prone proteins. There was also an accumulation of ubiquitin-positive inclusions and increased numbers of dysfunctional mitochondria. Similar findings were observed in a mouse model of another lysosomal storage disorder, multiple sulfatase deficiency (MSD; 272200). The findings were consistent with these diseases being disorders of autophagy, which may be a common mechanism in neurodegenerative lysosomal storage diseases. </p><p>Hassiotis et al. (2014) studied the development of cerebellar pathology in a canine model of MPS3A (Huntaway dog model) and observed that Purkinje cells were present in affected dogs aged up to and including 30.9 months; however, by 40.9 months, only approximately 12% remained, coincident with the onset of clinical signs. Primary and secondary substrate accumulation and inflammation were detected as early as 2.2 months, and axonal spheroids were observed from 4.3 months in deep cerebellar nuclei and later (11.6 months) in cerebellar white matter tracts. Degenerating neurons and apoptotic cells were not observed at any time. Hassiotis et al. (2014) suggested that cell-autonomous mechanisms may contribute to Purkinje cell death in the MPS3A dog. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Greenwood et al. (1978); Kleijer et al. (1986); Langer (1964); Liem
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et al. (1976); Matalon and Dorfman (1974); McKusick et al. (1965);
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Sanfilippo et al. (1963); Schmidt et al. (1977); Singh et al. (1974);
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Spranger et al. (1967); van de Kamp et al. (1976); Wallace et al.
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(1966)
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Spranger, J. W., Teller, W., Kosenow, W., Murken, J. D., Eckert-Huseman, E.
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Valstar, M. J., Neijs, S., Bruggenwirth, H. T., Olmer, R., Ruijter, G. J., Wevers, R. A., van Diggelen, O. P., Poorthuis, B. J., Halley, D. J., Wijburg, F. A.
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van de Kamp, J. J. P., Niermeijer, M. F., von Figura, K., Giesberts, M. A. H.
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van de Kamp, J. J. P., Van Pelt, J. F., Liem, K. O., Giesberts, M. A. H., Niepoth, L. T. M., Staalman, C. R.
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<strong>The Sanfilippo syndrome: a clinical and genetical study of 75 patients in the Netherlands.</strong>
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Wijburg, F. A., Heap, F., Rust, S., de Ruijter, J., Tump, E., Marchal, J. P., Nestrasil, I., Shapiro, E., Jones, S. A., Alexanderian, D.
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<strong>Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.</strong>
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Hilary J. Vernon - updated : 02/17/2022<br>Ada Hamosh - updated : 05/29/2018<br>Ada Hamosh - updated : 01/20/2015<br>Cassandra L. Kniffin - updated : 3/21/2011<br>Cassandra L. Kniffin - updated : 9/14/2009<br>Victor A. McKusick - updated : 1/5/2004<br>Victor A. McKusick - updated : 9/27/2000<br>Victor A. McKusick - updated : 9/1/2000<br>Victor A. McKusick - updated : 8/16/2000<br>Paul J. Converse - updated : 6/7/2000<br>Victor A. McKusick - updated : 1/7/2000<br>Wilson H. Y. Lo - updated : 11/16/1999<br>Victor A. McKusick - updated : 10/26/1999<br>Victor A. McKusick - updated : 11/10/1998<br>Victor A. McKusick - updated : 10/9/1998<br>Victor A. McKusick - updated : 8/24/1998<br>Victor A. McKusick - updated : 4/29/1998<br>Victor A. McKusick - updated : 1/12/1998<br>Victor A. McKusick - updated : 6/23/1997
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