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Entry
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- #252920 - MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B
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- OMIM
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<p>
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<span class="h4">#252920</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/252920"><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="#inheritance">Inheritance</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#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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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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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><a href="https://clinicaltrials.gov/search?cond=MUCOPOLYSACCHARIDOSIS, TYPE IIIB" 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=11296&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Sanfilippo syndrome type B </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=252920[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=79270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Sanfilippo syndrome type B</a></div>
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</div>
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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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</a>
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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:0111394" 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/252920" 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/OMIA001342/" 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><a href="https://wormbase.org/resources/disease/DOID:0111394" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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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 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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</a>
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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:252920" 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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<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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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 59990008<br />
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<strong>ICD10CM:</strong> E76.22<br />
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<strong>ORPHA:</strong> 581, 79270<br />
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<strong>DO:</strong> 0111394<br />
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">ICD+</a>
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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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252920
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B
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<div>
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|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
MPS IIIB<br />
|
|
SANFILIPPO SYNDROME B<br />
|
|
N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY<br />
|
|
NAGLU 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/17/579?start=-3&limit=10&highlight=579">
|
|
17q21.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Mucopolysaccharidosis type IIIB (Sanfilippo B)
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/252920"> 252920 </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">
|
|
NAGLU
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609701"> 609701 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/252920" 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/252920" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/252920" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> 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 /> -
|
|
Cardiomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8186001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8186001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/429.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">429.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018800&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018800</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001640</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001640</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nasopharynx </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Frequent upper respiratory infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195708003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195708003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0581381&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0581381</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002788" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002788</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002788" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002788</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Thickened ribs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249699000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249699000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426820&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426820</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000900" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000900</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000900" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000900</a>]</span><br />
|
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|
</span>
|
|
</div>
|
|
</div>
|
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|
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</div>
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</div>
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<div>
|
|
<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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spleen </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Splenomegaly, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865190&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865190</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Diarrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267060006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267060006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62315008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62315008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R19.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R19.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011991</a>, <a href="https://bioportal.bioontology.org/search?q=C2169706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2169706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span><br />
|
|
|
|
</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">
|
|
|
|
- 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 /> -
|
|
Hirsutism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399939002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399939002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L68.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L68.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/704.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001007</a>]</span><br /> -
|
|
Coarse hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48610005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48610005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0277959&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0277959</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002208" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002208</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002208" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002208</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> 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">
|
|
|
|
- Neurologic deterioration, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002344" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002344</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002344" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002344</a>]</span><br /> -
|
|
Slowing mental development by 1.5 to 3 years of age <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854817</a>]</span><br /> -
|
|
Sleep disturbances <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39898005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39898005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53888004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53888004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G47" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G47</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G47.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G47.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.5</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/780.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037317&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037317</a>, <a href="https://bioportal.bioontology.org/search?q=C0851578&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0851578</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002360" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002360</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002360" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002360</a>]</span><br /> -
|
|
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 /> -
|
|
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 />
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</span>
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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 class="h5 mim-font">
|
|
<em> Behavioral Psychiatric Manifestations </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- 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 /> -
|
|
Aggressive behavior <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61372001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61372001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001807&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001807</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006919" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006919</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000718</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000718</a>]</span><br /> -
|
|
Behavioral problems, severe, at age 3-4 years <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232435</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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</span>
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</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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<div>
|
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<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- N-acetyl-alpha-D-glucosaminidase deficiency in fibroblasts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854840&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854840</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>
|
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</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 class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset in early childhood<br /> -
|
|
Death occurs in second or third decade<br /> -
|
|
Some patients have an attenuated phenotype<br /> -
|
|
Four clinically indistinguishable biochemically distinct forms (see, e.g., type IIIA, <a href="/entry/252900">252900</a>)<br />
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|
|
</span>
|
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</div>
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|
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</div>
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</div>
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
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|
|
- Caused by mutation in the N-acetyl-alpha-D-glucosaminidase gene (NAGLU, <a href="/entry/609701#0001">609701.0001</a>)<br />
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|
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</span>
|
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
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|
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
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|
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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/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>
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</span>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/4/22?start=-3&limit=10&highlight=22"> 4p16.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607016"> Mucopolysaccharidosis Is </a>
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</span>
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</td>
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<td>
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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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</span>
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</td>
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<td>
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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>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607016"> 607016 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/252800"> IDUA </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/252800"> 252800 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/5/282?start=-3&limit=10&highlight=282"> 5q14.1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/253200"> Mucopolysaccharidosis type VI (Maroteaux-Lamy) </a>
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</span>
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</td>
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<td>
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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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</span>
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</td>
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<td>
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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>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/253200"> 253200 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/611542"> ARSB </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/611542"> 611542 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/5/330?start=-3&limit=10&highlight=330"> 5q15 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/619698"> Mucopolysaccharidosis, type X </a>
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</span>
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</td>
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<td>
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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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</span>
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</td>
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<td>
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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>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/619698"> 619698 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610011"> ARSK </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610011"> 610011 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/7/297?start=-3&limit=10&highlight=297"> 7q11.21 </a>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/253220"> Mucopolysaccharidosis VII </a>
|
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</span>
|
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</td>
|
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<td>
|
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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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</span>
|
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</td>
|
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<td>
|
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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>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/253220"> 253220 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/611499"> GUSB </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/611499"> 611499 </a>
|
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</span>
|
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</td>
|
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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|
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<a href="/geneMap/8/244?start=-3&limit=10&highlight=244"> 8p11.21-p11.1 </a>
|
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/252930"> Mucopolysaccharidosis type IIIC (Sanfilippo C) </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/252930"> 252930 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610453"> HGSNAT </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/610453"> 610453 </a>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
|
<td>
|
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<span class="mim-font">
|
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|
|
<a href="/geneMap/16/739?start=-3&limit=10&highlight=739"> 16q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/253000"> Mucopolysaccharidosis IVA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/253000"> 253000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612222"> GALNS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612222"> 612222 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<a href="/geneMap/17/579?start=-3&limit=10&highlight=579"> 17q21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/252920"> Mucopolysaccharidosis type IIIB (Sanfilippo B) </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/252920"> 252920 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/609701"> NAGLU </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/609701"> 609701 </a>
|
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</span>
|
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/17/1017?start=-3&limit=10&highlight=1017"> 17q25.3 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/252900"> Mucopolysaccharidosis type IIIA (Sanfilippo A) </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<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>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/252900"> 252900 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605270"> SGSH </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/605270"> 605270 </a>
|
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</span>
|
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</td>
|
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/geneMap/X/783?start=-3&limit=10&highlight=783"> Xq28 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309900"> Mucopolysaccharidosis II </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
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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>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/309900"> 309900 </a>
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/300823"> IDS </a>
|
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</span>
|
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</td>
|
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<td>
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<span class="mim-font">
|
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<a href="/entry/300823"> 300823 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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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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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because Sanfilippo syndrome B, or mucopolysaccharidosis type IIIB, is caused by homozygous or compound heterozygous mutation in the gene encoding N-alpha-acetylglucosaminidase (NAGLU; <a href="/entry/609701">609701</a>) on chromosome 17q21.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (<a href="#4" class="mim-tip-reference" title="Chinen, Y., Tohma, T., Izumikawa, Y., Uehara, H., Ohta, T. <strong>Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan.</strong> J. Hum. Genet. 50: 357-359, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15933803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15933803</a>] [<a href="https://doi.org/10.1007/s10038-005-0258-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15933803">Chinen et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15933803" 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 a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (<a href="/entry/252900">252900</a>).</p>
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</span>
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<div>
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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<p><a href="#6" class="mim-tip-reference" title="Harris, R. C. <strong>Mucopolysaccharide disorder: a possible new genotype of Hurler's syndrome. (Abstract)</strong> Am. J. Dis. Child. 102: 741 only, 1961."None>Harris (1961)</a> may have reported the earliest case of Sanfilippo syndrome. The same patient was later shown by <a href="#13" class="mim-tip-reference" title="Neufeld, E. F. <strong>Personal Communication.</strong> Bethesda, Md. 1973."None>Neufeld (1973)</a> to have MPS IIIB.</p><p><a href="#19" class="mim-tip-reference" title="van Schrojenstein-de Valk, H. M. J., van de Kamp, J. J. P. <strong>Follow-up on seven adult patients with mild Sanfilippo B-disease.</strong> Am. J. Med. Genet. 28: 125-129, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3118713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3118713</a>] [<a href="https://doi.org/10.1002/ajmg.1320280118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3118713">Van Schrojenstein-de Valk and van de Kamp (1987)</a> reviewed 7 patients, aged 30 to 43 years, with a mild variant of Sanfilippo syndrome B. Somatic findings in these patients were unremarkable. Dementia and behavioral disturbances occurred late in the course of the disease. Four of the 7 patients were sibs in family A; 2 were sibs in family B, and the seventh was a double first cousin of these 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3118713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Yogalingam, G., Weber, B., Meehan, J., Rogers, J., Hopwood, J. J. <strong>Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with Sanfilippo phenotype in an attenuated patient.</strong> Biochim. Biophys. Acta 1502: 415-425, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11068184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11068184</a>] [<a href="https://doi.org/10.1016/s0925-4439(00)00066-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11068184">Yogalingam et al. (2000)</a> reported a patient with an attenuated form of Sanfilippo syndrome B confirmed by genetic analysis (<a href="/entry/609701#0003">609701.0003</a>; <a href="/entry/609701#0010">609701.0010</a>). The patient presented at 18 months of age with failure to thrive, developmental delay, hepatomegaly, and diarrhea. At age 3 he had coarse hair, a protuberant abdomen, soft hepatomegaly, and normal facies. Liver function testing and a skeletal survey were both normal. He was intellectually delayed with hyperactive aggressive behavior but showed no regression. He had had a slowly progressive course but was still alive at age 31. Functional studies showed significant residual NAGLU activity sufficient to metabolize 34% of intracellular 35-S-labeled GAG storage, suggesting that some mutant NAGLU was being correctly sorted to the lysosomal compartment. <a href="#27" class="mim-tip-reference" title="Yogalingam, G., Weber, B., Meehan, J., Rogers, J., Hopwood, J. J. <strong>Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with Sanfilippo phenotype in an attenuated patient.</strong> Biochim. Biophys. Acta 1502: 415-425, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11068184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11068184</a>] [<a href="https://doi.org/10.1016/s0925-4439(00)00066-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11068184">Yogalingam et al. (2000)</a> suggested that the residual NAGLU activity could explain the attenuated phenotype in their patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11068184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of MPS3B in the families reported by <a href="#17" class="mim-tip-reference" title="Tanaka, A., Kimura, M., Lan, H. T. N., Takaura, N., Yamano, T. <strong>Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations.</strong> J. Hum. Genet. 47: 484-487, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12202988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12202988</a>] [<a href="https://doi.org/10.1007/s100380200070" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12202988">Tanaka et al. (2002)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12202988" 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="#14" class="mim-tip-reference" title="O'Brien, J. S. <strong>Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients.</strong> Proc. Nat. Acad. Sci. 69: 1720-1722, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4261742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4261742</a>] [<a href="https://doi.org/10.1073/pnas.69.7.1720" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4261742">O'Brien (1972)</a> determined that the defect in Sanfilippo syndrome B was absence or decreased activity of alpha-N-acetylglucosaminidase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4261742" 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="#1" class="mim-tip-reference" title="Andria, G., Di Natale, P., del Giudice, E., Strisciuglio, P., Murino, P. <strong>Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship.</strong> Clin. Genet. 15: 500-504, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/157237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">157237</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1979.tb00832.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="157237">Andria et al. (1979)</a> reported 3 sibs with MPS IIIB. Two sibs were severely affected and 1 was mildly affected. The finding of clinical heterogeneity within the same family was unusual. In cell fusion studies with cells from the mild case of <a href="#1" class="mim-tip-reference" title="Andria, G., Di Natale, P., del Giudice, E., Strisciuglio, P., Murino, P. <strong>Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship.</strong> Clin. Genet. 15: 500-504, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/157237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">157237</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1979.tb00832.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="157237">Andria et al. (1979)</a> and cells from severe cases, <a href="#2" class="mim-tip-reference" title="Ballabio, A., Pallini, R., Di Natale, P. <strong>Mucopolysaccharidosis IIIB: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients.</strong> Clin. Genet. 25: 191-195, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6231143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6231143</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1984.tb00484.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6231143">Ballabio et al. (1984)</a> found no complementation, indicating that both mild and severe forms of the disorder are allelic. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=157237+6231143" 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="Pande, H., Chester, A., Lie, H., Thorsby, E., Stormorken, H. <strong>Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia: further evidence of a hyperactive alpha-N-acetylglucosaminidase-producing allele.</strong> Clin. Genet. 41: 243-247, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1606713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1606713</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03674.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1606713">Pande et al. (1992)</a> described the daughter of first-cousin parents who had both MPS IIIB and Glanzmann disease (<a href="/entry/273800">273800</a>). Both disorders map to chromosome 17q21. In this family, there was no genetic linkage between the 2 disorders when studied by analyzing the heterozygotes. While the mother of the proband had NAGLU activity levels in the heterozygous range, the father had normal levels similar to those of a wildtype homozygote. Several family members had abnormally high levels of NAGLU activity, consistent with a 'hyperactive' allele, as had been demonstrated by Vance et al. (<a href="#21" class="mim-tip-reference" title="Vance, J. M., Pericak-Vance, M. A., Elston, R. C., Conneally, P. M., Namboodiri, K. K., Wappner, R. S., Yu, P. L. <strong>Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase in black and white populations: a new polymorphism.</strong> Am. J. Med. Genet. 7: 131-140, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6781343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6781343</a>] [<a href="https://doi.org/10.1002/ajmg.1320070207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6781343">1980</a>, <a href="#20" class="mim-tip-reference" title="Vance, J. M., Conneally, P. M., Wappner, R. S., Yu, P. L., Brandt, I. K., Pericak-Vance, M. A. <strong>Carrier detection in Sanfilippo syndrome type B: report of six families.</strong> Clin. Genet. 20: 135-140, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6796309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6796309</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1981.tb01818.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6796309">1981</a>) and by <a href="#16" class="mim-tip-reference" title="Pericak-Vance, M. A., Vance, J. M., Elston, R. C., Namboodiri, K. K., Fogle, T. A. <strong>Segregation and linkage analysis of alpha-N-acetyl-D-glucosaminidase (NAG) levels in a black family.</strong> Am. J. Med. Genet. 20: 295-306, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3976723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3976723</a>] [<a href="https://doi.org/10.1002/ajmg.1320200213" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3976723">Pericak-Vance et al. (1985)</a>. <a href="#15" class="mim-tip-reference" title="Pande, H., Chester, A., Lie, H., Thorsby, E., Stormorken, H. <strong>Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia: further evidence of a hyperactive alpha-N-acetylglucosaminidase-producing allele.</strong> Clin. Genet. 41: 243-247, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1606713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1606713</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03674.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1606713">Pande et al. (1992)</a> concluded that the father of the proband had an unusual NAGLU genotype: a combination of a hyperactive allele and a defective allele. The findings indicated that normal levels of the NAGLU enzyme can be found in obligate heterozygotes, thus precluding genotype classification on a biochemical basis alone. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3976723+6796309+6781343+1606713" 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="#7" class="mim-tip-reference" title="Kleijer, W. J., Huijmans, J. G. M., Blom, W., Gorska, D., Kubalska, J., Walasek, M., Zaremba, J. <strong>Prenatal diagnosis of Sanfilippo disease type B.</strong> Hum. Genet. 66: 287-288, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6427096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6427096</a>] [<a href="https://doi.org/10.1007/BF00287628" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6427096">Kleijer et al. (1984)</a> made the prenatal diagnosis of Sanfilippo syndrome B and found that elevated heparan sulfate in the amniotic fluid complemented the enzyme assay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6427096" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Minelli, A., Danesino, C., Lo Curto, F., Tenti, P., Zampatti, C., Simoni, G., Rossella, F., Fois, A. <strong>First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B.</strong> Prenatal Diag. 8: 47-52, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3125534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3125534</a>] [<a href="https://doi.org/10.1002/pd.1970080106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3125534">Minelli et al. (1988)</a> made the prenatal diagnosis of Sanfilippo syndrome B by chorionic villus sampling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3125534" 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="#22" class="mim-tip-reference" title="Vellodi, A., Young, E., New, M., Pot-Mees, C., Hugh-Jones, K. <strong>Bone marrow transplantation for Sanfilippo disease type B.</strong> J. Inherit. Metab. Dis. 15: 911-918, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1293388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1293388</a>] [<a href="https://doi.org/10.1007/BF01800232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1293388">Vellodi et al. (1992)</a> performed bone marrow transplantation in twin sisters with Sanfilippo syndrome B. The diagnosis was made at the age of 18 months, at which time they were clinically normal, on the basis of abnormal excretion of heparan sulfate in the urine and deficiency of glucosaminidase in the plasma and leukocytes; the diagnosis was suspected because an older brother was affected. The transplant was first done from the haploidentical father; there was no engraftment in either so that a second transplant was carried out with success from the haploidentical mother. Follow-up for 9 years posttransplant showed that neither twin was as handicapped as the untreated brother at the same age; other evidence of beneficial effect was recorded. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1293388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Muschol, N., Koehn, A., von Cossel, K., Okur, I., Ezgu, F., Harmatz, P., de Castro Lopez, M. J., Couce, M. L., Lin, S. P., Batzios, S., Cleary, M., Solano, M., Nestrasil, I., Kaufman, B., Shaywitz, A. J., Maricich, S. M., Kuca, B., Kovalchin, J., Zanelli, E. <strong>A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B.</strong> J. Clin. Invest. 133: e165076, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36413418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36413418</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=36413418[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/10.1172/JCI165076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36413418">Muschol et al. (2023)</a> reported results of an open-label phase I/II study of intracerebroventricular administration of tralesinidase alfa in 22 patients with Sanfilippo syndrome B. Administration of an optimized dose of intracerebroventricular for 48 weeks resulted in normalized heparan sulfate and heparan sulfate nonreducing end (HS-NRE) levels in the CSF and plasma and stabilized cortical gray matter volume. Additionally, hepatomegaly resolved in most patients. An inverse correlation was observed between cumulative plasma HS-NRE levels and change in cognitive age equivalent (AEq) scores. <a href="#10" class="mim-tip-reference" title="Muschol, N., Koehn, A., von Cossel, K., Okur, I., Ezgu, F., Harmatz, P., de Castro Lopez, M. J., Couce, M. L., Lin, S. P., Batzios, S., Cleary, M., Solano, M., Nestrasil, I., Kaufman, B., Shaywitz, A. J., Maricich, S. M., Kuca, B., Kovalchin, J., Zanelli, E. <strong>A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B.</strong> J. Clin. Invest. 133: e165076, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36413418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36413418</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=36413418[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/10.1172/JCI165076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36413418">Muschol et al. (2023)</a> hypothesized that the normalization of plasma heparan sulfate and HS-NRE through intracerebroventricular administration of tralesinidase alfa may have been due to glymphatic function, resulting in improved efficacy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36413418" 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="#26" class="mim-tip-reference" title="Wenger, S. L., McIntire, S. C., Bansal, V., Barranger, J. A., Higgins, J., Balistreri, W. F., Thompson, J. N., Deka, R. <strong>Glycogen storage disease type Ia and Sanfilippo syndrome type B in a patient with a balanced translocation. (Letter)</strong> Clin. Genet. 58: 409-410, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11140844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11140844</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2000.580514.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11140844">Wenger et al. (2000)</a> described a child who had Sanfilippo syndrome B with a homozygous mutation in the NAGLU gene, glycogen storage disease (GSD) type Ia (<a href="/entry/232200">232200</a>), and a presumably balanced translocation between chromosomes 12 and 20. The parents were nonconsanguineous and of Czechoslovakian/Hungarian ancestry; 3 of the 4 grandparents were 'ethnically similar.' The karyotype of the father and a normal brother was 46,XY. The mother was 45,X in lymphoblasts and mosaic 45,X/47,XXX in fibroblasts. Both Sanfilippo syndrome B and GSD Ia map to chromosome 17q21, suggesting a common mechanism. <a href="#26" class="mim-tip-reference" title="Wenger, S. L., McIntire, S. C., Bansal, V., Barranger, J. A., Higgins, J., Balistreri, W. F., Thompson, J. N., Deka, R. <strong>Glycogen storage disease type Ia and Sanfilippo syndrome type B in a patient with a balanced translocation. (Letter)</strong> Clin. Genet. 58: 409-410, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11140844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11140844</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2000.580514.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11140844">Wenger et al. (2000)</a> stated that it was highly unlikely that the 2 recessive disorders and the de novo translocation in the same patient were unrelated occurrences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11140844" 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>Using SSCP analysis of PCR-amplified segments of genomic DNA from patients with Sanfilippo syndrome B, <a href="#28" class="mim-tip-reference" title="Zhao, H. G., Li, H. H., Bach, G., Schmidtchen, A., Neufeld, E. F. <strong>The molecular basis of Sanfilippo syndrome type B.</strong> Proc. Nat. Acad. Sci. 93: 6101-6105, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8650226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8650226</a>] [<a href="https://doi.org/10.1073/pnas.93.12.6101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8650226">Zhao et al. (1996)</a> identified several recessive mutations in the NAGLU gene (see, e.g., <a href="/entry/609701#0001">609701.0001</a>-<a href="/entry/609701#0005">609701.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8650226" 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 a mutation screen of 20 patients with Sanfilippo syndrome B, <a href="#18" class="mim-tip-reference" title="Tessitore, A., Villani, G. R. D., Di Domenico, C., Filocamo, M., Gatti, R., Di Natale, P. <strong>Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.</strong> Hum. Genet. 107: 568-576, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11153910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11153910</a>] [<a href="https://doi.org/10.1007/s004390000429" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11153910">Tessitore et al. (2000)</a> identified 28 mutations, 14 of which were novel, in the NAGLU gene. Of these mutations, 4 were found in homozygosity and only 1 was seen in 2 different patients, showing the remarkable molecular heterogeneity of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11153910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Tanaka, A., Kimura, M., Lan, H. T. N., Takaura, N., Yamano, T. <strong>Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations.</strong> J. Hum. Genet. 47: 484-487, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12202988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12202988</a>] [<a href="https://doi.org/10.1007/s100380200070" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12202988">Tanaka et al. (2002)</a> performed molecular analysis of the NAGLU gene in 7 Japanese patients with Sanfilippo syndrome B from 6 unrelated families; 6 disease-causing mutations were found, of which 2 were novel. Two families were from Okinawa, where more patients with Sanfilippo syndrome were found than in other areas in Japan. Two sibs, who were compound heterozygous for F314L (<a href="/entry/609701#0011">609701.0011</a>) and R565P (<a href="/entry/609701#0009">609701.0009</a>), showed an attenuated form. Two patients with a severe phenotype with rapid progression were homozygous for R482W (<a href="/entry/609701#0012">609701.0012</a>) and R565P, respectively. <a href="#17" class="mim-tip-reference" title="Tanaka, A., Kimura, M., Lan, H. T. N., Takaura, N., Yamano, T. <strong>Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations.</strong> J. Hum. Genet. 47: 484-487, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12202988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12202988</a>] [<a href="https://doi.org/10.1007/s100380200070" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12202988">Tanaka et al. (2002)</a> suggested that the R565P mutation is common in Okinawa. <a href="#4" class="mim-tip-reference" title="Chinen, Y., Tohma, T., Izumikawa, Y., Uehara, H., Ohta, T. <strong>Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan.</strong> J. Hum. Genet. 50: 357-359, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15933803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15933803</a>] [<a href="https://doi.org/10.1007/s10038-005-0258-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15933803">Chinen et al. (2005)</a> identified the homozygous R565P mutation in 5 unrelated Japanese patients from Okinawa, suggesting a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12202988+15933803" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., Zecha, A., Mohseni, M., and 33 others. <strong>Deep sequencing reveals 50 novel genes for recessive cognitive disorders.</strong> Nature 478: 57-63, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21937992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21937992</a>] [<a href="https://doi.org/10.1038/nature10423" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21937992">Najmabadi et al. (2011)</a> performed homozygosity mapping followed by exon enrichment and next-generation sequencing in 136 consanguineous families (over 90% Iranian and less than 10% Turkish or Arab) segregating syndromic or nonsyndromic forms of autosomal recessive intellectual disability. They identified a family (8600486) in which 3 of 4 children, born to parents related as first cousins once removed, had MPS IIIB (severe intellectual disability, autism spectrum disorder, and coarse facial features) and a homozygous missense mutation in the NAGLU gene (<a href="/entry/609701#0014">609701.0014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21937992" 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 series of cases of Sanfilippo syndrome collected in most parts of the world, type A is more frequent than type B. Among 11 patients in Greece, however, <a href="#3" class="mim-tip-reference" title="Beratis, N. G., Sklower, S. L., Wilbur, L., Matalon, R. <strong>Sanfilippo disease in Greece.</strong> Clin. Genet. 29: 129-132, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3082543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3082543</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1986.tb01235.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3082543">Beratis et al. (1986)</a> found that 10 had type B and 1 had type A. Both parents of the latter patient came from the Greek ethnic community of Turkey. All of the type B cases came from east-central Greece and neighboring areas of Thessaly and Macedonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3082543" 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="#12" 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 were a total of 11 cases, including 5 of type A, 5 of type B, and 1 of type C. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14608657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Mangas, M., Nogueira, C., Prata, M. J., Lacerda, L., Coll, M. J., Soares, G., Ribeiro, G., Amaral, O., Ferreira, C., Alves, C., Coutinho, M. F., Alves, S. <strong>Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula.</strong> Clin. Genet. 73: 251-256, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18218046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18218046</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00951.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18218046">Mangas et al. (2008)</a> noted the MPS IIIB is the most common form of MPS among Portuguese. The authors identified a founder mutation (R234C; <a href="/entry/609701#0013">609701.0013</a>) in the NAGLU gene, which accounted for 32% of mutant alleles in their study of 11 Portuguese patients with the disorder. Haplotype analysis showed that the R234C mutation arose on a founder haplotype common to both Spanish and Portuguese individuals, suggesting that the mutation had a single and relatively recent origin in the Iberian peninsula. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18218046" 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="#5" class="mim-tip-reference" title="Ellinwood, N. M., Wang, P., Skeen, T., Sharp, N. J. H., Cesta, M., Decker, S., Edwards, N. J., Bublot, I., Thompson, J. N., Bush, W., Hardam, E., Haskins, M. E., Giger, U. <strong>A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs.</strong> J. Inherit. Metab. Dis. 26: 489-504, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14518829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14518829</a>] [<a href="https://doi.org/10.1023/a:1025177411938" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14518829">Ellinwood et al. (2003)</a> reported naturally occurring Sanfilippo syndrome IIIB in Schipperke dogs. Two affected dogs presented at about 3 years of age with progressive ataxia, tremors, and lethargy. Other findings included mildly dystrophic corneas and small peripheral foci of retinal degeneration. Naglu activity was less than 10% of normal values. Postmortem examination showed severe cerebellar atrophy with marked Purkinje cell loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14518829" 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="#von1984" class="mim-tip-reference" title="von Figura, K., Hasilik, A., Steckel, F., van de Kamp, J. <strong>Biosynthesis and maturation of alpha-N-acetylglucosaminidase in normal and Sanfilippo B-fibroblasts.</strong> Am. J. Hum. Genet. 36: 93-100, 1984.">von Figura et al. (1984)</a>; <a href="#von1974" class="mim-tip-reference" title="von Figura, K., Kresse, H. <strong>Quantitative aspects of pinocytosis and intracellular fate of N-acetyl-alpha-D-glucosaminidase in Sanfilippo B fibroblasts.</strong> J. Clin. Invest. 53: 85-90, 1974.">von Figura and Kresse (1974)</a>; <a href="#von1973" class="mim-tip-reference" title="von Figura, K., Logering, M., Mersmann, G., Kreese, H. <strong>Sanfilippo B disease: serum assays for detection of homozygous and heterozygous individuals in three families.</strong> J. Pediat. 83: 607-611, 1973.">von Figura et
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[<a href="https://doi.org/10.1111/j.1399-0004.1984.tb00484.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1986.tb01235.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s10038-005-0258-4" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3976723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3976723</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3976723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320200213" target="_blank">Full Text</a>]
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Tanaka, A., Kimura, M., Lan, H. T. N., Takaura, N., Yamano, T.
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<strong>Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations.</strong>
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[<a href="https://doi.org/10.1007/s100380200070" target="_blank">Full Text</a>]
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<strong>Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11153910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11153910</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11153910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004390000429" target="_blank">Full Text</a>]
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<strong>Follow-up on seven adult patients with mild Sanfilippo B-disease.</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320280118" target="_blank">Full Text</a>]
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<strong>Carrier detection in Sanfilippo syndrome type B: report of six families.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6796309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6796309</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6796309" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1981.tb01818.x" target="_blank">Full Text</a>]
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Vance, J. M., Pericak-Vance, M. A., Elston, R. C., Conneally, P. M., Namboodiri, K. K., Wappner, R. S., Yu, P. L.
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<strong>Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase in black and white populations: a new polymorphism.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6781343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6781343</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6781343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320070207" target="_blank">Full Text</a>]
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Vellodi, A., Young, E., New, M., Pot-Mees, C., Hugh-Jones, K.
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<strong>Bone marrow transplantation for Sanfilippo disease type B.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1293388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1293388</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1293388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01800232" target="_blank">Full Text</a>]
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von Figura, K., Hasilik, A., Steckel, F., van de Kamp, J.
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<strong>Biosynthesis and maturation of alpha-N-acetylglucosaminidase in normal and Sanfilippo B-fibroblasts.</strong>
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Am. J. Hum. Genet. 36: 93-100, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6421152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6421152</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6421152" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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von Figura, K., Kresse, H.
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<strong>Quantitative aspects of pinocytosis and intracellular fate of N-acetyl-alpha-D-glucosaminidase in Sanfilippo B fibroblasts.</strong>
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J. Clin. Invest. 53: 85-90, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4271574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4271574</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4271574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI107563" target="_blank">Full Text</a>]
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von Figura, K., Logering, M., Mersmann, G., Kreese, H.
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<strong>Sanfilippo B disease: serum assays for detection of homozygous and heterozygous individuals in three families.</strong>
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J. Pediat. 83: 607-611, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4269738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4269738</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4269738" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(73)80222-7" target="_blank">Full Text</a>]
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Wenger, S. L., McIntire, S. C., Bansal, V., Barranger, J. A., Higgins, J., Balistreri, W. F., Thompson, J. N., Deka, R.
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<strong>Glycogen storage disease type Ia and Sanfilippo syndrome type B in a patient with a balanced translocation. (Letter)</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11140844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11140844</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11140844" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1034/j.1399-0004.2000.580514.x" target="_blank">Full Text</a>]
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Yogalingam, G., Weber, B., Meehan, J., Rogers, J., Hopwood, J. J.
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<strong>Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with Sanfilippo phenotype in an attenuated patient.</strong>
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Biochim. Biophys. Acta 1502: 415-425, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11068184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11068184</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11068184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0925-4439(00)00066-1" target="_blank">Full Text</a>]
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Zhao, H. G., Li, H. H., Bach, G., Schmidtchen, A., Neufeld, E. F.
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<strong>The molecular basis of Sanfilippo syndrome type B.</strong>
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Proc. Nat. Acad. Sci. 93: 6101-6105, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8650226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8650226</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8650226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.93.12.6101" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 10/10/2023
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Ada Hamosh - updated : 1/6/2012<br>Cassandra L. Kniffin - updated : 5/6/2008<br>Cassandra L. Kniffin - updated : 11/8/2006<br>Cassandra L. Kniffin - reorganized : 11/16/2005<br>Cassandra L. Kniffin - updated : 11/8/2005<br>Victor A. McKusick - updated : 1/14/2004<br>Victor A. McKusick - updated : 3/27/2003<br>Victor A. McKusick - updated : 10/2/2002<br>Victor A. McKusick - updated : 2/20/2002<br>Ada Hamosh - updated : 1/3/2001<br>Victor A. McKusick - updated : 12/18/2000<br>Victor A. McKusick - updated : 12/18/2000<br>Victor A. McKusick - updated : 1/3/2000<br>Victor A. McKusick - updated : 4/21/1999<br>Michael J. Wright - updated : 2/11/1999<br>Victor A. McKusick - updated : 3/17/1998<br>Moyra Smith - updated : 6/22/1996
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Victor A. McKusick : 6/4/1986
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carol : 10/10/2023<br>carol : 07/19/2021<br>carol : 02/12/2014<br>mcolton : 2/12/2014<br>mcolton : 2/12/2014<br>carol : 1/9/2012<br>terry : 1/6/2012<br>wwang : 5/12/2008<br>ckniffin : 5/6/2008<br>wwang : 11/10/2006<br>ckniffin : 11/8/2006<br>carol : 11/16/2005<br>carol : 11/16/2005<br>ckniffin : 11/8/2005<br>carol : 3/17/2004<br>carol : 1/14/2004<br>carol : 10/17/2003<br>cwells : 4/2/2003<br>terry : 3/27/2003<br>carol : 10/2/2002<br>tkritzer : 10/2/2002<br>tkritzer : 10/2/2002<br>cwells : 2/25/2002<br>cwells : 2/20/2002<br>joanna : 3/28/2001<br>mcapotos : 1/18/2001<br>mcapotos : 1/5/2001<br>mcapotos : 1/5/2001<br>terry : 1/3/2001<br>terry : 12/18/2000<br>terry : 12/18/2000<br>alopez : 9/15/2000<br>alopez : 1/11/2000<br>terry : 1/3/2000<br>carol : 4/23/1999<br>terry : 4/21/1999<br>mgross : 3/3/1999<br>mgross : 3/1/1999<br>terry : 2/11/1999<br>alopez : 5/15/1998<br>terry : 4/21/1998<br>alopez : 3/17/1998<br>terry : 3/9/1998<br>terry : 8/21/1996<br>terry : 7/16/1996<br>carol : 6/22/1996<br>mimman : 2/8/1996<br>terry : 11/2/1995<br>warfield : 4/15/1994<br>carol : 2/10/1993<br>carol : 9/24/1992<br>carol : 9/21/1992<br>carol : 6/18/1992
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<h3>
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<span class="mim-font">
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<strong>#</strong> 252920
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</h3>
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<h3>
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<span class="mim-font">
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MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B
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</h3>
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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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<span class="mim-font">
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MPS IIIB<br />
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SANFILIPPO SYNDROME B<br />
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N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY<br />
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NAGLU DEFICIENCY
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</h4>
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<strong>SNOMEDCT:</strong> 59990008;
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<strong>ICD10CM:</strong> E76.22;
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<strong>ORPHA:</strong> 581, 79270;
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<strong>DO:</strong> 0111394;
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<td>
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<span class="mim-font">
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17q21.2
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<td>
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<span class="mim-font">
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Mucopolysaccharidosis type IIIB (Sanfilippo B)
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</td>
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<span class="mim-font">
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252920
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<span class="mim-font">
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Autosomal recessive
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<td>
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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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NAGLU
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<td>
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<span class="mim-font">
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609701
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</table>
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because Sanfilippo syndrome B, or mucopolysaccharidosis type IIIB, is caused by homozygous or compound heterozygous mutation in the gene encoding N-alpha-acetylglucosaminidase (NAGLU; 609701) on chromosome 17q21.</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>Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005). </p><p>For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (252900).</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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</h4>
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<span class="mim-text-font">
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<p>Harris (1961) may have reported the earliest case of Sanfilippo syndrome. The same patient was later shown by Neufeld (1973) to have MPS IIIB.</p><p>Van Schrojenstein-de Valk and van de Kamp (1987) reviewed 7 patients, aged 30 to 43 years, with a mild variant of Sanfilippo syndrome B. Somatic findings in these patients were unremarkable. Dementia and behavioral disturbances occurred late in the course of the disease. Four of the 7 patients were sibs in family A; 2 were sibs in family B, and the seventh was a double first cousin of these 2. </p><p>Yogalingam et al. (2000) reported a patient with an attenuated form of Sanfilippo syndrome B confirmed by genetic analysis (609701.0003; 609701.0010). The patient presented at 18 months of age with failure to thrive, developmental delay, hepatomegaly, and diarrhea. At age 3 he had coarse hair, a protuberant abdomen, soft hepatomegaly, and normal facies. Liver function testing and a skeletal survey were both normal. He was intellectually delayed with hyperactive aggressive behavior but showed no regression. He had had a slowly progressive course but was still alive at age 31. Functional studies showed significant residual NAGLU activity sufficient to metabolize 34% of intracellular 35-S-labeled GAG storage, suggesting that some mutant NAGLU was being correctly sorted to the lysosomal compartment. Yogalingam et al. (2000) suggested that the residual NAGLU activity could explain the attenuated phenotype in their patient. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</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>The transmission pattern of MPS3B in the families reported by Tanaka et al. (2002) was consistent with autosomal recessive inheritance. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</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>O'Brien (1972) determined that the defect in Sanfilippo syndrome B was absence or decreased activity of alpha-N-acetylglucosaminidase. </p><p>Andria et al. (1979) reported 3 sibs with MPS IIIB. Two sibs were severely affected and 1 was mildly affected. The finding of clinical heterogeneity within the same family was unusual. In cell fusion studies with cells from the mild case of Andria et al. (1979) and cells from severe cases, Ballabio et al. (1984) found no complementation, indicating that both mild and severe forms of the disorder are allelic. </p><p>Pande et al. (1992) described the daughter of first-cousin parents who had both MPS IIIB and Glanzmann disease (273800). Both disorders map to chromosome 17q21. In this family, there was no genetic linkage between the 2 disorders when studied by analyzing the heterozygotes. While the mother of the proband had NAGLU activity levels in the heterozygous range, the father had normal levels similar to those of a wildtype homozygote. Several family members had abnormally high levels of NAGLU activity, consistent with a 'hyperactive' allele, as had been demonstrated by Vance et al. (1980, 1981) and by Pericak-Vance et al. (1985). Pande et al. (1992) concluded that the father of the proband had an unusual NAGLU genotype: a combination of a hyperactive allele and a defective allele. The findings indicated that normal levels of the NAGLU enzyme can be found in obligate heterozygotes, thus precluding genotype classification on a biochemical basis alone. </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>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><strong><em>Prenatal Diagnosis</em></strong></p><p>
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Kleijer et al. (1984) made the prenatal diagnosis of Sanfilippo syndrome B and found that elevated heparan sulfate in the amniotic fluid complemented the enzyme assay. </p><p>Minelli et al. (1988) made the prenatal diagnosis of Sanfilippo syndrome B by chorionic villus sampling. </p>
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</span>
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<div>
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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>Clinical Management</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>Vellodi et al. (1992) performed bone marrow transplantation in twin sisters with Sanfilippo syndrome B. The diagnosis was made at the age of 18 months, at which time they were clinically normal, on the basis of abnormal excretion of heparan sulfate in the urine and deficiency of glucosaminidase in the plasma and leukocytes; the diagnosis was suspected because an older brother was affected. The transplant was first done from the haploidentical father; there was no engraftment in either so that a second transplant was carried out with success from the haploidentical mother. Follow-up for 9 years posttransplant showed that neither twin was as handicapped as the untreated brother at the same age; other evidence of beneficial effect was recorded. </p><p>Muschol et al. (2023) reported results of an open-label phase I/II study of intracerebroventricular administration of tralesinidase alfa in 22 patients with Sanfilippo syndrome B. Administration of an optimized dose of intracerebroventricular for 48 weeks resulted in normalized heparan sulfate and heparan sulfate nonreducing end (HS-NRE) levels in the CSF and plasma and stabilized cortical gray matter volume. Additionally, hepatomegaly resolved in most patients. An inverse correlation was observed between cumulative plasma HS-NRE levels and change in cognitive age equivalent (AEq) scores. Muschol et al. (2023) hypothesized that the normalization of plasma heparan sulfate and HS-NRE through intracerebroventricular administration of tralesinidase alfa may have been due to glymphatic function, resulting in improved efficacy. </p>
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</span>
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<div>
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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>Cytogenetics</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>Wenger et al. (2000) described a child who had Sanfilippo syndrome B with a homozygous mutation in the NAGLU gene, glycogen storage disease (GSD) type Ia (232200), and a presumably balanced translocation between chromosomes 12 and 20. The parents were nonconsanguineous and of Czechoslovakian/Hungarian ancestry; 3 of the 4 grandparents were 'ethnically similar.' The karyotype of the father and a normal brother was 46,XY. The mother was 45,X in lymphoblasts and mosaic 45,X/47,XXX in fibroblasts. Both Sanfilippo syndrome B and GSD Ia map to chromosome 17q21, suggesting a common mechanism. Wenger et al. (2000) stated that it was highly unlikely that the 2 recessive disorders and the de novo translocation in the same patient were unrelated occurrences. </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>Molecular 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>Using SSCP analysis of PCR-amplified segments of genomic DNA from patients with Sanfilippo syndrome B, Zhao et al. (1996) identified several recessive mutations in the NAGLU gene (see, e.g., 609701.0001-609701.0005). </p><p>In a mutation screen of 20 patients with Sanfilippo syndrome B, Tessitore et al. (2000) identified 28 mutations, 14 of which were novel, in the NAGLU gene. Of these mutations, 4 were found in homozygosity and only 1 was seen in 2 different patients, showing the remarkable molecular heterogeneity of the disorder. </p><p>Tanaka et al. (2002) performed molecular analysis of the NAGLU gene in 7 Japanese patients with Sanfilippo syndrome B from 6 unrelated families; 6 disease-causing mutations were found, of which 2 were novel. Two families were from Okinawa, where more patients with Sanfilippo syndrome were found than in other areas in Japan. Two sibs, who were compound heterozygous for F314L (609701.0011) and R565P (609701.0009), showed an attenuated form. Two patients with a severe phenotype with rapid progression were homozygous for R482W (609701.0012) and R565P, respectively. Tanaka et al. (2002) suggested that the R565P mutation is common in Okinawa. Chinen et al. (2005) identified the homozygous R565P mutation in 5 unrelated Japanese patients from Okinawa, suggesting a founder effect. </p><p>Najmabadi et al. (2011) performed homozygosity mapping followed by exon enrichment and next-generation sequencing in 136 consanguineous families (over 90% Iranian and less than 10% Turkish or Arab) segregating syndromic or nonsyndromic forms of autosomal recessive intellectual disability. They identified a family (8600486) in which 3 of 4 children, born to parents related as first cousins once removed, had MPS IIIB (severe intellectual disability, autism spectrum disorder, and coarse facial features) and a homozygous missense mutation in the NAGLU gene (609701.0014). </p>
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<div>
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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 series of cases of Sanfilippo syndrome collected in most parts of the world, type A is more frequent than type B. Among 11 patients in Greece, however, Beratis et al. (1986) found that 10 had type B and 1 had type A. Both parents of the latter patient came from the Greek ethnic community of Turkey. All of the type B cases came from east-central Greece and neighboring areas of Thessaly and Macedonia. </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 were a total of 11 cases, including 5 of type A, 5 of type B, and 1 of type C. </p><p>Mangas et al. (2008) noted the MPS IIIB is the most common form of MPS among Portuguese. The authors identified a founder mutation (R234C; 609701.0013) in the NAGLU gene, which accounted for 32% of mutant alleles in their study of 11 Portuguese patients with the disorder. Haplotype analysis showed that the R234C mutation arose on a founder haplotype common to both Spanish and Portuguese individuals, suggesting that the mutation had a single and relatively recent origin in the Iberian peninsula. </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>Animal Model</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>Ellinwood et al. (2003) reported naturally occurring Sanfilippo syndrome IIIB in Schipperke dogs. Two affected dogs presented at about 3 years of age with progressive ataxia, tremors, and lethargy. Other findings included mildly dystrophic corneas and small peripheral foci of retinal degeneration. Naglu activity was less than 10% of normal values. Postmortem examination showed severe cerebellar atrophy with marked Purkinje cell loss. </p>
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</span>
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<div>
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<br />
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</div>
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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>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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von Figura et al. (1984); von Figura and Kresse (1974); von Figura et
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al. (1973)
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</span>
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<div>
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<br />
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</div>
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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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Andria, G., Di Natale, P., del Giudice, E., Strisciuglio, P., Murino, P.
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<strong>Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship.</strong>
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Clin. Genet. 15: 500-504, 1979.
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[PubMed: 157237]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1979.tb00832.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ballabio, A., Pallini, R., Di Natale, P.
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<strong>Mucopolysaccharidosis IIIB: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients.</strong>
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Clin. Genet. 25: 191-195, 1984.
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[PubMed: 6231143]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1984.tb00484.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Beratis, N. G., Sklower, S. L., Wilbur, L., Matalon, R.
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<strong>Sanfilippo disease in Greece.</strong>
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Clin. Genet. 29: 129-132, 1986.
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[PubMed: 3082543]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1986.tb01235.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Chinen, Y., Tohma, T., Izumikawa, Y., Uehara, H., Ohta, T.
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<strong>Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan.</strong>
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J. Hum. Genet. 50: 357-359, 2005.
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[PubMed: 15933803]
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[Full Text: https://doi.org/10.1007/s10038-005-0258-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ellinwood, N. M., Wang, P., Skeen, T., Sharp, N. J. H., Cesta, M., Decker, S., Edwards, N. J., Bublot, I., Thompson, J. N., Bush, W., Hardam, E., Haskins, M. E., Giger, U.
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