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- #607016 - SCHEIE SYNDROME
- OMIM
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<span class="h4">#607016</span>
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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/607016"><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="#nomenclature">Nomenclature</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#populationGenetics">Population Genetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=SCHEIE SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>EuroGentest</div>
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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=132&Typ=Pat" title="Mucopolysaccharidosis type 1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Mucopolysaccharidosis type…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12382&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Scheie syndrome&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1162/" 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 id="mimOrphanetFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=579" title="Mucopolysaccharidosis type 1" 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=93474" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Scheie syndrome</a></div>
</div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/fe543853-f21a-4a11-9a73-8bfe09d47ccf/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
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</a>
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</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0060222" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/607016" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://omia.org/OMIA000664/" 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>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:607016" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
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</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 73123008<br />
<strong>ICD10CM:</strong> E76.03<br />
<strong>ORPHA:</strong> 579, 93474<br />
<strong>DO:</strong> 0060222<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
607016
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
SCHEIE SYNDROME
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
MUCOPOLYSACCHARIDOSIS TYPE IS; MPS1-S<br />
MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY<br />
MPS V, FORMERLY; MPS5, FORMERLY
</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/4/22?start=-3&limit=10&highlight=22">
4p16.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Mucopolysaccharidosis Is
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607016"> 607016 </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">
IDUA
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252800"> 252800 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/607016" 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>
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</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS607014" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/607016" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/607016" 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">
- Broad face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859680&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859680</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000283" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000283</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000283" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000283</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=05f39697d4d404f202642b22ec0eec6f" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Face,Broad-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=05f39697d4d404f202642b22ec0eec6f&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Full cheeks <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866231&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866231</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000293" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000293</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000293" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000293</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=85459d10e5df48479ec4a2ec6cfc0455" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Cheeks,Full-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=85459d10e5df48479ec4a2ec6cfc0455&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Mandibular prognathism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109504005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109504005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22810007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.213</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0399526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0399526</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Corneal clouding, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3810419&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3810419</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64634000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64634000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413921009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413921009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95735008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95735008</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/371.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">371.00</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span><br /> -
Glaucoma (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23986001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23986001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H40-H42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40-H42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/365.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017601&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017601</a>, <a href="https://bioportal.bioontology.org/search?q=C0997768&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0997768</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span><br /> -
Retinal degeneration (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95695004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95695004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035304</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000546</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000546</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Flat nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Depressed-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Broad nose <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249321001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249321001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426421</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000445" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000445</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000445" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000445</a>]</span><br /> -
Broad nares <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399353008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399353008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009931" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009931</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Neck </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short neck <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95427009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95427009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521525</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Neck,Short-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Aortic stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60573004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60573004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003507&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003507</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001650</a>]</span><br /> -
Aortic regurgitation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60234000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60234000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003504&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003504</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001659</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001659</a>]</span><br /> -
Abnormal mitral valve <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11851006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11851006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/424.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">424.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026265</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Obstructive sleep apnea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78275009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78275009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G47.33" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G47.33</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/327.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">327.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0520679&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0520679</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002870" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002870</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002870" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002870</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Airways </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Obstructive airway disease <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600260</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006536" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006536</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 (in some patients) <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> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Lumbar-sacral spondylolisthesis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807628&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807628</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">
- Genu valgum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299330008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299330008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52012001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52012001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.06" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.06</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158484&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158484</a>, <a href="https://bioportal.bioontology.org/search?q=C0576093&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576093</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Carpal tunnel syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57406009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57406009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G56.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G56.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G56.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G56.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/354.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">354.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007286&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007286</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012185" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012185</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012185" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012185</a>]</span><br /> -
Claw-hand deformity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13624003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13624003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q71.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q71.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q71.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q71.60</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.58" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.58</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2699510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2699510</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001171</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0100257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100257</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pes cavus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205091006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205091006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36755004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36755004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86900005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86900005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.73</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728829</a>, <a href="https://bioportal.bioontology.org/search?q=C0039273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039273</a>, <a href="https://bioportal.bioontology.org/search?q=C2239098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Normal intelligence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26941006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26941006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423900&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423900</a>]</span><br /> -
Pachymeningitis cervicalis (cervical cord compression due to thickened dura) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807618&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807618</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Excretion of heparan sulfate 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><br /> -
Excretion of dermatan sulfate in urine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854774&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854774</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008301" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008301</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Onset of symptoms after age 5<br /> -
Diagnosis typically between age 10-20 years<br /> -
Alpha-L-iduronidase activity is <1% for all forms of MPS1<br /> -
MPS1 types are distinguished clinically by age of onset and progression or by mutation(s)<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the alpha-L-iduronidase gene (IDUA, <a href="/entry/252800#0004">252800.0004</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Mucopolysaccharidoses
- <a href="/phenotypicSeries/PS607014">PS607014</a>
- 13 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/149?start=-3&limit=10&highlight=149"> 3p22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253010"> Mucopolysaccharidosis type IVB (Morquio) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253010"> 253010 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611458"> GLB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611458"> 611458 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/337?start=-3&limit=10&highlight=337"> 3p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601492"> Mucopolysaccharidosis type IX </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601492"> 601492 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607071"> HYAL1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607071"> 607071 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/22?start=-3&limit=10&highlight=22"> 4p16.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607014"> Mucopolysaccharidosis Ih </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607014"> 607014 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252800"> IDUA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252800"> 252800 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/22?start=-3&limit=10&highlight=22"> 4p16.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607016"> Mucopolysaccharidosis Is </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607016"> 607016 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252800"> IDUA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252800"> 252800 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/22?start=-3&limit=10&highlight=22"> 4p16.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607015"> Mucopolysaccharidosis Ih/s </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607015"> 607015 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252800"> IDUA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252800"> 252800 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/282?start=-3&limit=10&highlight=282"> 5q14.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253200"> Mucopolysaccharidosis type VI (Maroteaux-Lamy) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253200"> 253200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611542"> ARSB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611542"> 611542 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/330?start=-3&limit=10&highlight=330"> 5q15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619698"> Mucopolysaccharidosis, type X </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619698"> 619698 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610011"> ARSK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610011"> 610011 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/297?start=-3&limit=10&highlight=297"> 7q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253220"> Mucopolysaccharidosis VII </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253220"> 253220 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611499"> GUSB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611499"> 611499 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/244?start=-3&limit=10&highlight=244"> 8p11.21-p11.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252930"> Mucopolysaccharidosis type IIIC (Sanfilippo C) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252930"> 252930 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610453"> HGSNAT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610453"> 610453 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/739?start=-3&limit=10&highlight=739"> 16q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253000"> Mucopolysaccharidosis IVA </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253000"> 253000 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612222"> GALNS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612222"> 612222 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/579?start=-3&limit=10&highlight=579"> 17q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252920"> Mucopolysaccharidosis type IIIB (Sanfilippo B) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252920"> 252920 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609701"> NAGLU </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609701"> 609701 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/1017?start=-3&limit=10&highlight=1017"> 17q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252900"> Mucopolysaccharidosis type IIIA (Sanfilippo A) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252900"> 252900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605270"> SGSH </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605270"> 605270 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/783?start=-3&limit=10&highlight=783"> Xq28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/309900"> Mucopolysaccharidosis II </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/309900"> 309900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300823"> IDS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300823"> 300823 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<p>A number sign (#) is used with this entry because Scheie syndrome is caused by homozygous or compound heterozygous mutation in the gene encoding alpha-L-iduronidase (IDUA; <a href="/entry/252800">252800</a>) on chromosome 4p16.</p>
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<p>The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ function.</p><p>Deficiency of alpha-L-iduronidase can result in a wide range of phenotypic involvement with 3 major recognized clinical entities: Hurler (MPS IH; <a href="/entry/607014">607014</a>), Hurler-Scheie (MPS IH/S; <a href="/entry/607015">607015</a>), and Scheie (MPS IS) syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression (<a href="#14" class="mim-tip-reference" title="McKusick, V. A. &lt;strong&gt;Heritable Disorders of Connective Tissue. (4th ed.)&lt;/strong&gt; St. Louis: C. V. Mosby Co. (pub.) 1972."None>McKusick, 1972</a>).</p>
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<p><a href="#12" class="mim-tip-reference" title="McKusick, V. A., Howell, R. R., Hussels, I. E., Neufeld, E. F., Stevenson, R. E. &lt;strong&gt;Allelism, nonallelism and genetic compounds among the mucopolysaccharidoses.&lt;/strong&gt; Lancet 299: 993-996, 1972. Note: Originally Volume I.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4112371/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4112371&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(72)91159-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4112371">McKusick et al. (1972)</a> suggested that the Hurler syndrome might be called MPS IH and the Scheie syndrome MPS IS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4112371" 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>Stiff joints, clouding of the cornea most dense peripherally, survival to a late age with little if any impairment of intellect, and aortic regurgitation are features of the Scheie syndrome, which was earlier thought (<a href="#13" class="mim-tip-reference" title="McKusick, V. A., Kaplan, D., Wise, D., Hanley, W. B., Suddarth, S. B., Sevick, M. E., Maumanee, A. W. &lt;strong&gt;The genetic mucopolysaccharidoses.&lt;/strong&gt; Medicine 44: 445-483, 1965.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4221470/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4221470&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00005792-196511000-00001&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4221470">McKusick et al., 1965</a>) to be a separate entity designated MPS V. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4221470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The manifestations of Scheie syndrome are so mild that the diagnosis is often not considered until adulthood. The diagnosis is often made between 10 and 20 years of age with onset of symptoms commonly occurring after the age of 5 years (<a href="#15" class="mim-tip-reference" title="Neufeld, E. F., Muenzer, J. &lt;strong&gt;The mucopolysaccharidoses.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic &amp; Molecular Bases of Inherited Disease. Vol. III. (8th ed.)&lt;/strong&gt; New York: McGraw-Hill (pub.) 2001."None>Neufeld and Muenzer, 2001</a>).</p><p>The second case of <a href="#4" class="mim-tip-reference" title="Emerit, I., Maroteaux, P., Vernant, P. &lt;strong&gt;Deux observations de mucopolysaccharidose avec atteinte cardio-vasculaire.&lt;/strong&gt; Arch. Franc. Pediat. 23: 1075-1087, 1966."None>Emerit et al. (1966)</a> was probably Scheie syndrome. The parents were second cousins. The facies and hands were characteristic and aortic regurgitation with tricuspid atresia and situs inversus were present. The sisters, aged 47 and 55, reported by <a href="#10" class="mim-tip-reference" title="Koskenoja, M., Suvanto, E. &lt;strong&gt;Gargoylism: report of adult form with glaucoma in two sisters.&lt;/strong&gt; Acta Ophthal. 37: 234-240, 1959.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14411210/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14411210&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1755-3768.1959.tb03430.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14411210">Koskenoja and Suvanto (1959)</a> probably had this condition. The case of <a href="#17" class="mim-tip-reference" title="Poulet, J. &lt;strong&gt;Mucopolysaccharidose du type Hurler I sans deterioration mental chez un adulte et ses deux germains.&lt;/strong&gt; Sem. Hop. Paris 44: 2545-2554, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4304148/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4304148&lt;/a&gt;]" pmid="4304148">Poulet (1968)</a> with 2 affected cousins was probably Scheie syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14411210+4304148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Fischer, T. A., Lehr, H.-A., Nixdorff, U., Meyer, J. &lt;strong&gt;Combined aortic and mitral stenosis in mucopolysaccharidosis type I-S (Ullrich-Scheie syndrome).&lt;/strong&gt; Heart 81: 97-99, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10220555/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10220555&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/hrt.81.1.97&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10220555">Fischer et al. (1999)</a> described combined aortic and mitral stenosis in a patient with the clinical diagnosis of Ullrich-Scheie syndrome. The patient was short (161 cm). He was of normal intelligence with a high school degree. At age 23 years, recurrent syncope led to the diagnosis of severe aortic valve stenosis which was successfully treated by replacement of the calcified valve with a St. Jude prosthesis. Clouding of the cornea was found. In his thirties he developed weakness in the legs which was found to be due to compression of his spinal cord by severe thickening of the epidermal tissues from segments C1 through T1. Spinal cord decompression was required. At the age of 35, a stenotic mitral valve was replaced, again by a St. Jude prosthesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10220555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Head and Neck</em></strong></p><p>
The face is relatively normal without the coarsening seen in the other mucopolysaccharidoses. The face is broad with mandibular prognathism and full cheeks. The nasal bridge is flat and the nose and nares are broad. The neck is short (<a href="#22" class="mim-tip-reference" title="Whitley, C. B. &lt;strong&gt;The mucopolysaccharidoses.In: Beighton, P. (ed.) : McKusick&#x27;s Heritable Disorders of Connective Tissue. (5th ed.)&lt;/strong&gt; St. Louis: Mosby 1993."None>Whitley, 1993</a>).</p><p>Corneal clouding is common in adults with Scheie syndrome and is often the presenting complaint (<a href="#22" class="mim-tip-reference" title="Whitley, C. B. &lt;strong&gt;The mucopolysaccharidoses.In: Beighton, P. (ed.) : McKusick&#x27;s Heritable Disorders of Connective Tissue. (5th ed.)&lt;/strong&gt; St. Louis: Mosby 1993."None>Whitley, 1993</a>). The corneal clouding is progressive, leading to significant visual impairment. Other ophthalmologic problems include glaucoma (<a href="#18" class="mim-tip-reference" title="Quigley, H. A., Maumenee, A. E., Stark, W. J. &lt;strong&gt;Acute glaucoma in systemic mucopolysaccharidosis I-S.&lt;/strong&gt; Am. J. Ophthal. 80: 70-72, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/125545/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;125545&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9394(75)90871-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="125545">Quigley et al., 1975</a>) and retinal degeneration (<a href="#15" class="mim-tip-reference" title="Neufeld, E. F., Muenzer, J. &lt;strong&gt;The mucopolysaccharidoses.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic &amp; Molecular Bases of Inherited Disease. Vol. III. (8th ed.)&lt;/strong&gt; New York: McGraw-Hill (pub.) 2001."None>Neufeld and Muenzer, 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=125545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Cardiovascular Features</em></strong></p><p>
Aortic and mitral valvular disease is a feature in Scheie syndrome (<a href="#22" class="mim-tip-reference" title="Whitley, C. B. &lt;strong&gt;The mucopolysaccharidoses.In: Beighton, P. (ed.) : McKusick&#x27;s Heritable Disorders of Connective Tissue. (5th ed.)&lt;/strong&gt; St. Louis: Mosby 1993."None>Whitley, 1993</a>). <a href="#3" class="mim-tip-reference" title="Butman, S. M., Karl, L., Copeland, J. G. &lt;strong&gt;Combined aortic and mitral valve replacement in an adult with Scheie&#x27;s disease.&lt;/strong&gt; Chest 96: 209-210, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2500310/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2500310&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1378/chest.96.1.209&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2500310">Butman et al. (1989)</a> reported the first successful combined aortic and mitral valve replacement in an adult female patient with severe aortic and mitral stenosis due to Scheie syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2500310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Gross, D. M., Williams, J. C., Caprioli, C., Dominguez, B., Howell, R. R. &lt;strong&gt;Echocardiographic abnormalities in the mucopolysaccharide storage diseases.&lt;/strong&gt; Am. J. Cardiol. 61: 170-176, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3122547/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3122547&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9149(88)91325-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3122547">Gross et al. (1988)</a> described the echocardiographic abnormalities in 2 sisters with Scheie syndrome. The 19-year-old sister had clinical evidence of mild aortic stenosis. Her echocardiogram revealed a markedly thickened left coronary cusp of the aortic valve and abnormal mitral valve. Cardiac catheterization confirmed aortic stenosis and regurgitation with well-preserved left ventricular function. The younger, 14-year-old sister had similar echocardiogram findings with the exception that the noncoronary aortic cusp was thickened and immobile. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3122547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Respiratory Features</em></strong></p><p>
<a href="#16" class="mim-tip-reference" title="Perks, W. H., Cooper, R. a., Bradbury, S., Horrocks, P., Baldock, N., Allen, A., Van&#x27;t Hoff, W., Weidman, G., Prowse, K. &lt;strong&gt;Sleep apnoea in Scheie&#x27;s syndrome.&lt;/strong&gt; Thorax 35: 85-91, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6769175/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6769175&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/thx.35.2.85&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6769175">Perks et al. (1980)</a> reported 2 brothers with Scheie syndrome and sleep apnea. The 18-year-old brother presented with a 2-year history of daytime sleepiness and noisy breathing during sleep. Sleep study revealed 320 apneic episodes, 7% obstructive and 3 mixed. The apnea was associated with EEG changes suggestive of cerebral hypoxia. He underwent tracheostomy, which produced symptomatic improvement. The 25-year-old brother was less severely affected and had a total of 58 apneic episodes: 24% obstructive, 33% mixed, and 43% central. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6769175" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Musculoskeletal System</em></strong></p><p>
Dysostosis multiplex can be present but is usually mild. Joint involvement is marked in the hand with a claw-hand deformity. Patients also have genu valgum, stiff, painful feet, and pes cavus (<a href="#15" class="mim-tip-reference" title="Neufeld, E. F., Muenzer, J. &lt;strong&gt;The mucopolysaccharidoses.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic &amp; Molecular Bases of Inherited Disease. Vol. III. (8th ed.)&lt;/strong&gt; New York: McGraw-Hill (pub.) 2001."None>Neufeld and Muenzer, 2001</a>).</p><p>Carpal tunnel syndrome, a common complication in the mucopolysaccharidoses, probably results from a combination of excessive lysosomal storage in the connective tissue of the flexor retinaculum and a deformity secondary to the underlying skeletal dysplasia. <a href="#24" class="mim-tip-reference" title="Wraith, J. E., Alani, S. M. &lt;strong&gt;Carpal tunnel syndrome in the mucopolysaccharidoses and related disorders.&lt;/strong&gt; Arch. Dis. Child. 65: 962-963, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2121106/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2121106&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/adc.65.9.962&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2121106">Wraith and Alani (1990)</a> performed nerve conduction studies on 18 patients with various forms of mucopolysaccharidoses and mucolipidosis III. All 5 patients with MPS IS were found to have carpal tunnel syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2121106" 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>Lumbar-sacral spondylolisthesis may be present and may be associated with spinal cord compression (<a href="#25" class="mim-tip-reference" title="Wraith, J. E. &lt;strong&gt;The mucopolysaccharidoses: a clinical review and guide to management.&lt;/strong&gt; Arch. Dis. Child. 72: 263-267, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7741581/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7741581&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/adc.72.3.263&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7741581">Wraith, 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7741581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Nervous System</em></strong></p><p>
Intelligence is normal (<a href="#15" class="mim-tip-reference" title="Neufeld, E. F., Muenzer, J. &lt;strong&gt;The mucopolysaccharidoses.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic &amp; Molecular Bases of Inherited Disease. Vol. III. (8th ed.)&lt;/strong&gt; New York: McGraw-Hill (pub.) 2001."None>Neufeld and Muenzer, 2001</a>). Pachymeningitis cervicalis (compression of the cervical cord secondary to glycosaminoglycan in the dura) occurs in MPS IS, although less commonly than in MPS IH/S.</p>
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<p><a href="#23" class="mim-tip-reference" title="Wiesmann, U. N., Neufeld, E. F. &lt;strong&gt;Scheie and Hurler syndromes: apparent identity of the biochemical defect.&lt;/strong&gt; Science 169: 72-74, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4246082/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4246082&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.169.3940.72&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4246082">Wiesmann and Neufeld (1970)</a> found no cross-correction of Scheie and Hurler fibroblasts with those from Sanfilippo (see <a href="/entry/252900">252900</a>) and Hunter (<a href="/entry/309900">309900</a>) patients. Both disorders showed deficiencies of alpha-L-iduronidase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4246082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Fujibayashi, S., Minami, R., Ishikawa, Y., Wagatsuma, K., Nakao, T., Tsugawa, S. &lt;strong&gt;Properties of alpha-L-iduronidase in cultured skin fibroblasts from alpha-L-iduronidase-deficient patients.&lt;/strong&gt; Hum. Genet. 65: 268-272, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6421718/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6421718&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00286515&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6421718">Fujibayashi et al. (1984)</a> found that residual alpha-L-iduronidase activity in Hurler fibroblasts is heat-stable whereas that in Scheie fibroblasts is heat-labile. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6421718" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Schuchman, E. H., Desnick, R. J. &lt;strong&gt;Mucopolysaccharidosis type I subtypes: presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities.&lt;/strong&gt; J. Clin. Invest. 81: 98-105, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3121676/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3121676&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI113317&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3121676">Schuchman and Desnick (1988)</a> reported the presence of cross-reactive immunologic material (CRIM) in individuals from each of the 3 MPS I subtypes. Furthermore, they identified effector compounds that enhanced the residual activities in subtype extracts into the heterozygote range. The polyclonal antibody with which this work was done, however, is under suspicion because of the findings of <a href="#21" class="mim-tip-reference" title="Scott, H. S., Ashton, L. J., Eyre, H. J., Baker, E., Brooks, D. A., Callen, D. F., Sutherland, G. R., Morris, C. P., Hopwood, J. J. &lt;strong&gt;Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3.&lt;/strong&gt; Am. J. Hum. Genet. 47: 802-807, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2220820/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2220820&lt;/a&gt;]" pmid="2220820">Scott et al. (1990)</a> that it gave a fallacious result when used for the mapping of the IDUA gene in somatic cell hybrids. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2220820+3121676" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
<a id="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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<p>Autosomal recessive inheritance of MPS IS was suggested by early reports of affected sibs born to normal parents (<a href="#13" class="mim-tip-reference" title="McKusick, V. A., Kaplan, D., Wise, D., Hanley, W. B., Suddarth, S. B., Sevick, M. E., Maumanee, A. W. &lt;strong&gt;The genetic mucopolysaccharidoses.&lt;/strong&gt; Medicine 44: 445-483, 1965.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4221470/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4221470&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00005792-196511000-00001&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4221470">McKusick et al., 1965</a>). McKusick's prototypic case of Scheie syndrome was subsequently shown to be a genetic compound of an allele that in the homozygote causes Hurler syndrome (<a href="/entry/252800#0001">252800.0001</a>) and another allele (<a href="/entry/252800#0004">252800.0004</a>) with a splicing mutation associated with residual enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4221470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="populationGenetics" class="mim-anchor"></a>
<h4 href="#mimPopulationGeneticsFold" id="mimPopulationGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Population Genetics</strong>
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<p><a href="#11" class="mim-tip-reference" title="Lowry, R. B., Renwick, D. H. G. &lt;strong&gt;Relevant frequency of the Hurler and Hunter syndromes. (Letter)&lt;/strong&gt; New Eng. J. Med. 284: 222, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4250044/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4250044&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM197101282840425&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4250044">Lowry and Renwick (1971)</a> reported the frequency of Scheie syndrome to be 1 in 500,000 births. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4250044" 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="#26" class="mim-tip-reference" title="Yamagishi, A., Tomatsu, S., Fukuda, S., Uchiyama, A., Shimozawa, N., Suzuki, Y., Kondo, N., Sukegawa, K., Orii, T. &lt;strong&gt;Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.&lt;/strong&gt; Hum. Mutat. 7: 23-29, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8664897/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8664897&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(1996)7:1&lt;23::AID-HUMU3&gt;3.0.CO;2-Q&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8664897">Yamagishi et al. (1996)</a> defined the IDUA mutations in 19 Japanese MPS I patients, including 2 pairs of sibs, with various clinical phenotypes; Hurler syndrome, 6 cases; Hurler/Scheie syndrome, 7 cases; Scheie syndrome, 6 cases. Two common mutations accounted for 42% of the 38 alleles in these patients. One was a novel 5-bp insertion between the T at nt704 and the C at nucleotide 705 (704ins5; <a href="/entry/252800#0014">252800.0014</a>), which was seen only in the Japanese population. The other was a missense mutation, R89Q (<a href="/entry/252800#0015">252800.0015</a>), which is seen also in Caucasians, although uncommonly. No Japanese patient was found to carry the W402X (<a href="/entry/252800#0001">252800.0001</a>) or Q70X (<a href="/entry/252800#0002">252800.0002</a>) alleles, the 2 most common MPS I mutations in Caucasians. Homozygosity for the 704ins5 mutation was associated with a severe phenotype; homozygosity for the R89Q mutation was associated with a mild phenotype. Compound heterozygosity for these 2 mutations produced an intermediate phenotype. Haplotype analysis using polymorphisms linked to IDUA locus demonstrated that each of these 2 common mutations occurred on a different specific haplotype, suggesting that individuals with each of these common mutations derived from a common founder. The mild-intermediate-severe phenotypic relationships of the 2 common Japanese mutations fulfill the prediction of <a href="#12" class="mim-tip-reference" title="McKusick, V. A., Howell, R. R., Hussels, I. E., Neufeld, E. F., Stevenson, R. E. &lt;strong&gt;Allelism, nonallelism and genetic compounds among the mucopolysaccharidoses.&lt;/strong&gt; Lancet 299: 993-996, 1972. Note: Originally Volume I.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4112371/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4112371&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(72)91159-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4112371">McKusick et al. (1972)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8664897+4112371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p><a href="#2" class="mim-tip-reference" title="Bunge, S., Kleijer, W. J., Steglich, C., Beck, M., Schwinger, E., Gal, A. &lt;strong&gt;Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.&lt;/strong&gt; Hum. Mutat. 6: 91-94, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7550242/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7550242&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.1380060119&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7550242">Bunge et al. (1995)</a> identified 13 novel and 7 previously reported mutations of the IDUA gene, covering 88% of mutant alleles and 86% of genotypes, in a total of 29 patients with MPS I of differing clinical severity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550242" 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 analysis of 85 mucopolysaccharidosis type I families, including 7 families with Scheie syndrome, <a href="#1" class="mim-tip-reference" title="Beesley, C. E., Meaney, C. A., Greenland, G., Adams, V., Vellodi, A., Young, E. P., Winchester, B. G. &lt;strong&gt;Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.&lt;/strong&gt; Hum. Genet. 109: 503-511, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11735025/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11735025&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390100606&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11735025">Beesley et al. (2001)</a> identified 165 of the 170 mutant alleles. Despite the high frequency of W402X (<a href="/entry/252800#0001">252800.0001</a>) and Q70X (<a href="/entry/252800#0002">252800.0002</a>), the identification of many novel mutations unique to individual families further highlighted the genetic heterogeneity of MPS I. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11735025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="history" class="mim-anchor"></a>
<h4 href="#mimHistoryFold" id="mimHistoryToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>History</strong>
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<p><a href="#8" class="mim-tip-reference" title="Horton, W. A., Schimke, R. N. &lt;strong&gt;A new mucopolysaccharidosis.&lt;/strong&gt; J. Pediat. 77: 252-258, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4988173/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4988173&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(70)80332-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4988173">Horton and Schimke (1970)</a> described brother and sister, aged 13 and 11, with features like pseudo-Hurler polydystrophy (mucolipidosis III) but with mucopolysaccharides (both chondroitin sulfate B and heparitin sulfate) in the urine in amounts about 10 to 15 times normal. Intelligence was normal. These patients were subsequently shown to have alpha-iduronidase deficiency. The clinical phenotype suggested the Hurler-Scheie compound. <a href="#9" class="mim-tip-reference" title="Horton, W. A. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Kansas City, Ka. 1980."None>Horton (1980)</a> stated that valvular heart disease has been a problem in both sibs, who presumably have Scheie syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4988173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
<a id="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>See Also:</strong>
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<span class="mim-text-font">
<a href="#Scheie1962" class="mim-tip-reference" title="Scheie, H. G., Hambrick, G. W., Jr., Barness, L. A. &lt;strong&gt;A newly recognized forme fruste of Hurler&#x27;s disease (gargoylism).&lt;/strong&gt; Am. J. Ophthal. 53: 753-769, 1962.">Scheie et al. (1962)</a>
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<a id="references"class="mim-anchor"></a>
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<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
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</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Beesley2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Beesley, C. E., Meaney, C. A., Greenland, G., Adams, V., Vellodi, A., Young, E. P., Winchester, B. G.
<strong>Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.</strong>
Hum. Genet. 109: 503-511, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11735025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11735025</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11735025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s004390100606" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="2" class="mim-anchor"></a>
<a id="Bunge1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bunge, S., Kleijer, W. J., Steglich, C., Beck, M., Schwinger, E., Gal, A.
<strong>Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.</strong>
Hum. Mutat. 6: 91-94, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550242</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550242" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.1380060119" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
<a id="Butman1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Butman, S. M., Karl, L., Copeland, J. G.
<strong>Combined aortic and mitral valve replacement in an adult with Scheie's disease.</strong>
Chest 96: 209-210, 1989.
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[<a href="https://doi.org/10.1378/chest.96.1.209" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Emerit1966" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Emerit, I., Maroteaux, P., Vernant, P.
<strong>Deux observations de mucopolysaccharidose avec atteinte cardio-vasculaire.</strong>
Arch. Franc. Pediat. 23: 1075-1087, 1966.
</p>
</div>
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<a id="5" class="mim-anchor"></a>
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<div class="">
<p class="mim-text-font">
Fischer, T. A., Lehr, H.-A., Nixdorff, U., Meyer, J.
<strong>Combined aortic and mitral stenosis in mucopolysaccharidosis type I-S (Ullrich-Scheie syndrome).</strong>
Heart 81: 97-99, 1999.
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[<a href="https://doi.org/10.1136/hrt.81.1.97" target="_blank">Full Text</a>]
</p>
</div>
</li>
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<a id="6" class="mim-anchor"></a>
<a id="Fujibayashi1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fujibayashi, S., Minami, R., Ishikawa, Y., Wagatsuma, K., Nakao, T., Tsugawa, S.
<strong>Properties of alpha-L-iduronidase in cultured skin fibroblasts from alpha-L-iduronidase-deficient patients.</strong>
Hum. Genet. 65: 268-272, 1984.
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[<a href="https://doi.org/10.1007/BF00286515" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Gross1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gross, D. M., Williams, J. C., Caprioli, C., Dominguez, B., Howell, R. R.
<strong>Echocardiographic abnormalities in the mucopolysaccharide storage diseases.</strong>
Am. J. Cardiol. 61: 170-176, 1988.
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[<a href="https://doi.org/10.1016/0002-9149(88)91325-2" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Horton1970" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Horton, W. A., Schimke, R. N.
<strong>A new mucopolysaccharidosis.</strong>
J. Pediat. 77: 252-258, 1970.
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[<a href="https://doi.org/10.1016/s0022-3476(70)80332-8" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Horton1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Horton, W. A.
<strong>Personal Communication.</strong>
Kansas City, Ka. 1980.
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Koskenoja1959" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Koskenoja, M., Suvanto, E.
<strong>Gargoylism: report of adult form with glaucoma in two sisters.</strong>
Acta Ophthal. 37: 234-240, 1959.
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[<a href="https://doi.org/10.1111/j.1755-3768.1959.tb03430.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Lowry1971" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lowry, R. B., Renwick, D. H. G.
<strong>Relevant frequency of the Hurler and Hunter syndromes. (Letter)</strong>
New Eng. J. Med. 284: 222, 1971.
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[<a href="https://doi.org/10.1056/NEJM197101282840425" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="McKusick1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
McKusick, V. A., Howell, R. R., Hussels, I. E., Neufeld, E. F., Stevenson, R. E.
<strong>Allelism, nonallelism and genetic compounds among the mucopolysaccharidoses.</strong>
Lancet 299: 993-996, 1972. Note: Originally Volume I.
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[<a href="https://doi.org/10.1016/s0140-6736(72)91159-2" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="McKusick1965" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
McKusick, V. A., Kaplan, D., Wise, D., Hanley, W. B., Suddarth, S. B., Sevick, M. E., Maumanee, A. W.
<strong>The genetic mucopolysaccharidoses.</strong>
Medicine 44: 445-483, 1965.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4221470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4221470</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4221470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/00005792-196511000-00001" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="McKusick1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
McKusick, V. A.
<strong>Heritable Disorders of Connective Tissue. (4th ed.)</strong>
St. Louis: C. V. Mosby Co. (pub.) 1972.
</p>
</div>
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<a id="15" class="mim-anchor"></a>
<a id="Neufeld2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Neufeld, E. F., Muenzer, J.
<strong>The mucopolysaccharidoses.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic & Molecular Bases of Inherited Disease. Vol. III. (8th ed.)</strong>
New York: McGraw-Hill (pub.) 2001.
</p>
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<a id="16" class="mim-anchor"></a>
<a id="Perks1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Perks, W. H., Cooper, R. a., Bradbury, S., Horrocks, P., Baldock, N., Allen, A., Van't Hoff, W., Weidman, G., Prowse, K.
<strong>Sleep apnoea in Scheie's syndrome.</strong>
Thorax 35: 85-91, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6769175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6769175</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6769175" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/thx.35.2.85" target="_blank">Full Text</a>]
</p>
</div>
</li>
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<a id="17" class="mim-anchor"></a>
<a id="Poulet1968" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Poulet, J.
<strong>Mucopolysaccharidose du type Hurler I sans deterioration mental chez un adulte et ses deux germains.</strong>
Sem. Hop. Paris 44: 2545-2554, 1968.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4304148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4304148</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4304148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="Quigley1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Quigley, H. A., Maumenee, A. E., Stark, W. J.
<strong>Acute glaucoma in systemic mucopolysaccharidosis I-S.</strong>
Am. J. Ophthal. 80: 70-72, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/125545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">125545</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=125545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9394(75)90871-5" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="19" class="mim-anchor"></a>
<a id="Scheie1962" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Scheie, H. G., Hambrick, G. W., Jr., Barness, L. A.
<strong>A newly recognized forme fruste of Hurler's disease (gargoylism).</strong>
Am. J. Ophthal. 53: 753-769, 1962.
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</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Schuchman1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schuchman, E. H., Desnick, R. J.
<strong>Mucopolysaccharidosis type I subtypes: presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities.</strong>
J. Clin. Invest. 81: 98-105, 1988.
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[<a href="https://doi.org/10.1172/JCI113317" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="Scott1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Scott, H. S., Ashton, L. J., Eyre, H. J., Baker, E., Brooks, D. A., Callen, D. F., Sutherland, G. R., Morris, C. P., Hopwood, J. J.
<strong>Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3.</strong>
Am. J. Hum. Genet. 47: 802-807, 1990.
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</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Whitley1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Whitley, C. B.
<strong>The mucopolysaccharidoses.In: Beighton, P. (ed.) : McKusick's Heritable Disorders of Connective Tissue. (5th ed.)</strong>
St. Louis: Mosby 1993.
</p>
</div>
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<li>
<a id="23" class="mim-anchor"></a>
<a id="Wiesmann1970" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wiesmann, U. N., Neufeld, E. F.
<strong>Scheie and Hurler syndromes: apparent identity of the biochemical defect.</strong>
Science 169: 72-74, 1970.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4246082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4246082</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4246082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1126/science.169.3940.72" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="24" class="mim-anchor"></a>
<a id="Wraith1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wraith, J. E., Alani, S. M.
<strong>Carpal tunnel syndrome in the mucopolysaccharidoses and related disorders.</strong>
Arch. Dis. Child. 65: 962-963, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2121106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2121106</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2121106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/adc.65.9.962" target="_blank">Full Text</a>]
</p>
</div>
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<a id="25" class="mim-anchor"></a>
<a id="Wraith1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wraith, J. E.
<strong>The mucopolysaccharidoses: a clinical review and guide to management.</strong>
Arch. Dis. Child. 72: 263-267, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7741581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7741581</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7741581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/adc.72.3.263" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="26" class="mim-anchor"></a>
<a id="Yamagishi1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yamagishi, A., Tomatsu, S., Fukuda, S., Uchiyama, A., Shimozawa, N., Suzuki, Y., Kondo, N., Sukegawa, K., Orii, T.
<strong>Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.</strong>
Hum. Mutat. 7: 23-29, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8664897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8664897</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8664897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:1&lt;23::AID-HUMU3&gt;3.0.CO;2-Q" target="_blank">Full Text</a>]
</p>
</div>
</li>
</ol>
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<div>
<a id="creationDate" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
Creation Date:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Kelly A. Przylepa : 6/5/2002
</span>
</div>
</div>
</div>
<div>
<a id="editHistory" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
carol : 03/23/2023
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<div class="row collapse" id="mimCollapseEditHistory">
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
carol : 07/09/2016<br>carol : 7/9/2016<br>carol : 8/3/2012<br>carol : 11/30/2011<br>terry : 4/21/2011<br>joanna : 6/29/2010<br>terry : 4/3/2009<br>carol : 8/28/2008<br>carol : 11/30/2005<br>carol : 10/17/2003<br>carol : 10/17/2003<br>carol : 10/9/2003<br>carol : 10/8/2003<br>carol : 10/6/2003
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<div class="col-md-8 col-md-offset-1">
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<div>
<h3>
<span class="mim-font">
<strong>#</strong> 607016
</span>
</h3>
</div>
<div>
<h3>
<span class="mim-font">
SCHEIE SYNDROME
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<div >
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
MUCOPOLYSACCHARIDOSIS TYPE IS; MPS1-S<br />
MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY<br />
MPS V, FORMERLY; MPS5, FORMERLY
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<p>
<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 73123008; &nbsp;
<strong>ICD10CM:</strong> E76.03; &nbsp;
<strong>ORPHA:</strong> 579, 93474; &nbsp;
<strong>DO:</strong> 0060222; &nbsp;
</span>
</p>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
4p16.3
</span>
</td>
<td>
<span class="mim-font">
Mucopolysaccharidosis Is
</span>
</td>
<td>
<span class="mim-font">
607016
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
IDUA
</span>
</td>
<td>
<span class="mim-font">
252800
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because Scheie syndrome is caused by homozygous or compound heterozygous mutation in the gene encoding alpha-L-iduronidase (IDUA; 252800) on chromosome 4p16.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ function.</p><p>Deficiency of alpha-L-iduronidase can result in a wide range of phenotypic involvement with 3 major recognized clinical entities: Hurler (MPS IH; 607014), Hurler-Scheie (MPS IH/S; 607015), and Scheie (MPS IS) syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression (McKusick, 1972).</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>McKusick et al. (1972) suggested that the Hurler syndrome might be called MPS IH and the Scheie syndrome MPS IS. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Stiff joints, clouding of the cornea most dense peripherally, survival to a late age with little if any impairment of intellect, and aortic regurgitation are features of the Scheie syndrome, which was earlier thought (McKusick et al., 1965) to be a separate entity designated MPS V. </p><p>The manifestations of Scheie syndrome are so mild that the diagnosis is often not considered until adulthood. The diagnosis is often made between 10 and 20 years of age with onset of symptoms commonly occurring after the age of 5 years (Neufeld and Muenzer, 2001).</p><p>The second case of Emerit et al. (1966) was probably Scheie syndrome. The parents were second cousins. The facies and hands were characteristic and aortic regurgitation with tricuspid atresia and situs inversus were present. The sisters, aged 47 and 55, reported by Koskenoja and Suvanto (1959) probably had this condition. The case of Poulet (1968) with 2 affected cousins was probably Scheie syndrome. </p><p>Fischer et al. (1999) described combined aortic and mitral stenosis in a patient with the clinical diagnosis of Ullrich-Scheie syndrome. The patient was short (161 cm). He was of normal intelligence with a high school degree. At age 23 years, recurrent syncope led to the diagnosis of severe aortic valve stenosis which was successfully treated by replacement of the calcified valve with a St. Jude prosthesis. Clouding of the cornea was found. In his thirties he developed weakness in the legs which was found to be due to compression of his spinal cord by severe thickening of the epidermal tissues from segments C1 through T1. Spinal cord decompression was required. At the age of 35, a stenotic mitral valve was replaced, again by a St. Jude prosthesis. </p><p><strong><em>Head and Neck</em></strong></p><p>
The face is relatively normal without the coarsening seen in the other mucopolysaccharidoses. The face is broad with mandibular prognathism and full cheeks. The nasal bridge is flat and the nose and nares are broad. The neck is short (Whitley, 1993).</p><p>Corneal clouding is common in adults with Scheie syndrome and is often the presenting complaint (Whitley, 1993). The corneal clouding is progressive, leading to significant visual impairment. Other ophthalmologic problems include glaucoma (Quigley et al., 1975) and retinal degeneration (Neufeld and Muenzer, 2001). </p><p><strong><em>Cardiovascular Features</em></strong></p><p>
Aortic and mitral valvular disease is a feature in Scheie syndrome (Whitley, 1993). Butman et al. (1989) reported the first successful combined aortic and mitral valve replacement in an adult female patient with severe aortic and mitral stenosis due to Scheie syndrome. </p><p>Gross et al. (1988) described the echocardiographic abnormalities in 2 sisters with Scheie syndrome. The 19-year-old sister had clinical evidence of mild aortic stenosis. Her echocardiogram revealed a markedly thickened left coronary cusp of the aortic valve and abnormal mitral valve. Cardiac catheterization confirmed aortic stenosis and regurgitation with well-preserved left ventricular function. The younger, 14-year-old sister had similar echocardiogram findings with the exception that the noncoronary aortic cusp was thickened and immobile. </p><p><strong><em>Respiratory Features</em></strong></p><p>
Perks et al. (1980) reported 2 brothers with Scheie syndrome and sleep apnea. The 18-year-old brother presented with a 2-year history of daytime sleepiness and noisy breathing during sleep. Sleep study revealed 320 apneic episodes, 7% obstructive and 3 mixed. The apnea was associated with EEG changes suggestive of cerebral hypoxia. He underwent tracheostomy, which produced symptomatic improvement. The 25-year-old brother was less severely affected and had a total of 58 apneic episodes: 24% obstructive, 33% mixed, and 43% central. </p><p><strong><em>Musculoskeletal System</em></strong></p><p>
Dysostosis multiplex can be present but is usually mild. Joint involvement is marked in the hand with a claw-hand deformity. Patients also have genu valgum, stiff, painful feet, and pes cavus (Neufeld and Muenzer, 2001).</p><p>Carpal tunnel syndrome, a common complication in the mucopolysaccharidoses, probably results from a combination of excessive lysosomal storage in the connective tissue of the flexor retinaculum and a deformity secondary to the underlying skeletal dysplasia. Wraith and Alani (1990) performed nerve conduction studies on 18 patients with various forms of mucopolysaccharidoses and mucolipidosis III. All 5 patients with MPS IS were found to have carpal tunnel syndrome. </p><p>Lumbar-sacral spondylolisthesis may be present and may be associated with spinal cord compression (Wraith, 1995). </p><p><strong><em>Nervous System</em></strong></p><p>
Intelligence is normal (Neufeld and Muenzer, 2001). Pachymeningitis cervicalis (compression of the cervical cord secondary to glycosaminoglycan in the dura) occurs in MPS IS, although less commonly than in MPS IH/S.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Biochemical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Wiesmann and Neufeld (1970) found no cross-correction of Scheie and Hurler fibroblasts with those from Sanfilippo (see 252900) and Hunter (309900) patients. Both disorders showed deficiencies of alpha-L-iduronidase. </p><p>Fujibayashi et al. (1984) found that residual alpha-L-iduronidase activity in Hurler fibroblasts is heat-stable whereas that in Scheie fibroblasts is heat-labile. </p><p>Schuchman and Desnick (1988) reported the presence of cross-reactive immunologic material (CRIM) in individuals from each of the 3 MPS I subtypes. Furthermore, they identified effector compounds that enhanced the residual activities in subtype extracts into the heterozygote range. The polyclonal antibody with which this work was done, however, is under suspicion because of the findings of Scott et al. (1990) that it gave a fallacious result when used for the mapping of the IDUA gene in somatic cell hybrids. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Autosomal recessive inheritance of MPS IS was suggested by early reports of affected sibs born to normal parents (McKusick et al., 1965). McKusick's prototypic case of Scheie syndrome was subsequently shown to be a genetic compound of an allele that in the homozygote causes Hurler syndrome (252800.0001) and another allele (252800.0004) with a splicing mutation associated with residual enzyme activity. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Lowry and Renwick (1971) reported the frequency of Scheie syndrome to be 1 in 500,000 births. </p><p>Yamagishi et al. (1996) defined the IDUA mutations in 19 Japanese MPS I patients, including 2 pairs of sibs, with various clinical phenotypes; Hurler syndrome, 6 cases; Hurler/Scheie syndrome, 7 cases; Scheie syndrome, 6 cases. Two common mutations accounted for 42% of the 38 alleles in these patients. One was a novel 5-bp insertion between the T at nt704 and the C at nucleotide 705 (704ins5; 252800.0014), which was seen only in the Japanese population. The other was a missense mutation, R89Q (252800.0015), which is seen also in Caucasians, although uncommonly. No Japanese patient was found to carry the W402X (252800.0001) or Q70X (252800.0002) alleles, the 2 most common MPS I mutations in Caucasians. Homozygosity for the 704ins5 mutation was associated with a severe phenotype; homozygosity for the R89Q mutation was associated with a mild phenotype. Compound heterozygosity for these 2 mutations produced an intermediate phenotype. Haplotype analysis using polymorphisms linked to IDUA locus demonstrated that each of these 2 common mutations occurred on a different specific haplotype, suggesting that individuals with each of these common mutations derived from a common founder. The mild-intermediate-severe phenotypic relationships of the 2 common Japanese mutations fulfill the prediction of McKusick et al. (1972). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Bunge et al. (1995) identified 13 novel and 7 previously reported mutations of the IDUA gene, covering 88% of mutant alleles and 86% of genotypes, in a total of 29 patients with MPS I of differing clinical severity. </p><p>In a mutation analysis of 85 mucopolysaccharidosis type I families, including 7 families with Scheie syndrome, Beesley et al. (2001) identified 165 of the 170 mutant alleles. Despite the high frequency of W402X (252800.0001) and Q70X (252800.0002), the identification of many novel mutations unique to individual families further highlighted the genetic heterogeneity of MPS I. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Horton and Schimke (1970) described brother and sister, aged 13 and 11, with features like pseudo-Hurler polydystrophy (mucolipidosis III) but with mucopolysaccharides (both chondroitin sulfate B and heparitin sulfate) in the urine in amounts about 10 to 15 times normal. Intelligence was normal. These patients were subsequently shown to have alpha-iduronidase deficiency. The clinical phenotype suggested the Hurler-Scheie compound. Horton (1980) stated that valvular heart disease has been a problem in both sibs, who presumably have Scheie syndrome. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Scheie et al. (1962)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Beesley, C. E., Meaney, C. A., Greenland, G., Adams, V., Vellodi, A., Young, E. P., Winchester, B. G.
<strong>Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.</strong>
Hum. Genet. 109: 503-511, 2001.
[PubMed: 11735025]
[Full Text: https://doi.org/10.1007/s004390100606]
</p>
</li>
<li>
<p class="mim-text-font">
Bunge, S., Kleijer, W. J., Steglich, C., Beck, M., Schwinger, E., Gal, A.
<strong>Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.</strong>
Hum. Mutat. 6: 91-94, 1995.
[PubMed: 7550242]
[Full Text: https://doi.org/10.1002/humu.1380060119]
</p>
</li>
<li>
<p class="mim-text-font">
Butman, S. M., Karl, L., Copeland, J. G.
<strong>Combined aortic and mitral valve replacement in an adult with Scheie&#x27;s disease.</strong>
Chest 96: 209-210, 1989.
[PubMed: 2500310]
[Full Text: https://doi.org/10.1378/chest.96.1.209]
</p>
</li>
<li>
<p class="mim-text-font">
Emerit, I., Maroteaux, P., Vernant, P.
<strong>Deux observations de mucopolysaccharidose avec atteinte cardio-vasculaire.</strong>
Arch. Franc. Pediat. 23: 1075-1087, 1966.
</p>
</li>
<li>
<p class="mim-text-font">
Fischer, T. A., Lehr, H.-A., Nixdorff, U., Meyer, J.
<strong>Combined aortic and mitral stenosis in mucopolysaccharidosis type I-S (Ullrich-Scheie syndrome).</strong>
Heart 81: 97-99, 1999.
[PubMed: 10220555]
[Full Text: https://doi.org/10.1136/hrt.81.1.97]
</p>
</li>
<li>
<p class="mim-text-font">
Fujibayashi, S., Minami, R., Ishikawa, Y., Wagatsuma, K., Nakao, T., Tsugawa, S.
<strong>Properties of alpha-L-iduronidase in cultured skin fibroblasts from alpha-L-iduronidase-deficient patients.</strong>
Hum. Genet. 65: 268-272, 1984.
[PubMed: 6421718]
[Full Text: https://doi.org/10.1007/BF00286515]
</p>
</li>
<li>
<p class="mim-text-font">
Gross, D. M., Williams, J. C., Caprioli, C., Dominguez, B., Howell, R. R.
<strong>Echocardiographic abnormalities in the mucopolysaccharide storage diseases.</strong>
Am. J. Cardiol. 61: 170-176, 1988.
[PubMed: 3122547]
[Full Text: https://doi.org/10.1016/0002-9149(88)91325-2]
</p>
</li>
<li>
<p class="mim-text-font">
Horton, W. A., Schimke, R. N.
<strong>A new mucopolysaccharidosis.</strong>
J. Pediat. 77: 252-258, 1970.
[PubMed: 4988173]
[Full Text: https://doi.org/10.1016/s0022-3476(70)80332-8]
</p>
</li>
<li>
<p class="mim-text-font">
Horton, W. A.
<strong>Personal Communication.</strong>
Kansas City, Ka. 1980.
</p>
</li>
<li>
<p class="mim-text-font">
Koskenoja, M., Suvanto, E.
<strong>Gargoylism: report of adult form with glaucoma in two sisters.</strong>
Acta Ophthal. 37: 234-240, 1959.
[PubMed: 14411210]
[Full Text: https://doi.org/10.1111/j.1755-3768.1959.tb03430.x]
</p>
</li>
<li>
<p class="mim-text-font">
Lowry, R. B., Renwick, D. H. G.
<strong>Relevant frequency of the Hurler and Hunter syndromes. (Letter)</strong>
New Eng. J. Med. 284: 222, 1971.
[PubMed: 4250044]
[Full Text: https://doi.org/10.1056/NEJM197101282840425]
</p>
</li>
<li>
<p class="mim-text-font">
McKusick, V. A., Howell, R. R., Hussels, I. E., Neufeld, E. F., Stevenson, R. E.
<strong>Allelism, nonallelism and genetic compounds among the mucopolysaccharidoses.</strong>
Lancet 299: 993-996, 1972. Note: Originally Volume I.
[PubMed: 4112371]
[Full Text: https://doi.org/10.1016/s0140-6736(72)91159-2]
</p>
</li>
<li>
<p class="mim-text-font">
McKusick, V. A., Kaplan, D., Wise, D., Hanley, W. B., Suddarth, S. B., Sevick, M. E., Maumanee, A. W.
<strong>The genetic mucopolysaccharidoses.</strong>
Medicine 44: 445-483, 1965.
[PubMed: 4221470]
[Full Text: https://doi.org/10.1097/00005792-196511000-00001]
</p>
</li>
<li>
<p class="mim-text-font">
McKusick, V. A.
<strong>Heritable Disorders of Connective Tissue. (4th ed.)</strong>
St. Louis: C. V. Mosby Co. (pub.) 1972.
</p>
</li>
<li>
<p class="mim-text-font">
Neufeld, E. F., Muenzer, J.
<strong>The mucopolysaccharidoses.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic &amp; Molecular Bases of Inherited Disease. Vol. III. (8th ed.)</strong>
New York: McGraw-Hill (pub.) 2001.
</p>
</li>
<li>
<p class="mim-text-font">
Perks, W. H., Cooper, R. a., Bradbury, S., Horrocks, P., Baldock, N., Allen, A., Van't Hoff, W., Weidman, G., Prowse, K.
<strong>Sleep apnoea in Scheie&#x27;s syndrome.</strong>
Thorax 35: 85-91, 1980.
[PubMed: 6769175]
[Full Text: https://doi.org/10.1136/thx.35.2.85]
</p>
</li>
<li>
<p class="mim-text-font">
Poulet, J.
<strong>Mucopolysaccharidose du type Hurler I sans deterioration mental chez un adulte et ses deux germains.</strong>
Sem. Hop. Paris 44: 2545-2554, 1968.
[PubMed: 4304148]
</p>
</li>
<li>
<p class="mim-text-font">
Quigley, H. A., Maumenee, A. E., Stark, W. J.
<strong>Acute glaucoma in systemic mucopolysaccharidosis I-S.</strong>
Am. J. Ophthal. 80: 70-72, 1975.
[PubMed: 125545]
[Full Text: https://doi.org/10.1016/0002-9394(75)90871-5]
</p>
</li>
<li>
<p class="mim-text-font">
Scheie, H. G., Hambrick, G. W., Jr., Barness, L. A.
<strong>A newly recognized forme fruste of Hurler&#x27;s disease (gargoylism).</strong>
Am. J. Ophthal. 53: 753-769, 1962.
[PubMed: 14498144]
</p>
</li>
<li>
<p class="mim-text-font">
Schuchman, E. H., Desnick, R. J.
<strong>Mucopolysaccharidosis type I subtypes: presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities.</strong>
J. Clin. Invest. 81: 98-105, 1988.
[PubMed: 3121676]
[Full Text: https://doi.org/10.1172/JCI113317]
</p>
</li>
<li>
<p class="mim-text-font">
Scott, H. S., Ashton, L. J., Eyre, H. J., Baker, E., Brooks, D. A., Callen, D. F., Sutherland, G. R., Morris, C. P., Hopwood, J. J.
<strong>Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3.</strong>
Am. J. Hum. Genet. 47: 802-807, 1990.
[PubMed: 2220820]
</p>
</li>
<li>
<p class="mim-text-font">
Whitley, C. B.
<strong>The mucopolysaccharidoses.In: Beighton, P. (ed.) : McKusick&#x27;s Heritable Disorders of Connective Tissue. (5th ed.)</strong>
St. Louis: Mosby 1993.
</p>
</li>
<li>
<p class="mim-text-font">
Wiesmann, U. N., Neufeld, E. F.
<strong>Scheie and Hurler syndromes: apparent identity of the biochemical defect.</strong>
Science 169: 72-74, 1970.
[PubMed: 4246082]
[Full Text: https://doi.org/10.1126/science.169.3940.72]
</p>
</li>
<li>
<p class="mim-text-font">
Wraith, J. E., Alani, S. M.
<strong>Carpal tunnel syndrome in the mucopolysaccharidoses and related disorders.</strong>
Arch. Dis. Child. 65: 962-963, 1990.
[PubMed: 2121106]
[Full Text: https://doi.org/10.1136/adc.65.9.962]
</p>
</li>
<li>
<p class="mim-text-font">
Wraith, J. E.
<strong>The mucopolysaccharidoses: a clinical review and guide to management.</strong>
Arch. Dis. Child. 72: 263-267, 1995.
[PubMed: 7741581]
[Full Text: https://doi.org/10.1136/adc.72.3.263]
</p>
</li>
<li>
<p class="mim-text-font">
Yamagishi, A., Tomatsu, S., Fukuda, S., Uchiyama, A., Shimozawa, N., Suzuki, Y., Kondo, N., Sukegawa, K., Orii, T.
<strong>Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.</strong>
Hum. Mutat. 7: 23-29, 1996.
[PubMed: 8664897]
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1996)7:1&lt;23::AID-HUMU3&gt;3.0.CO;2-Q]
</p>
</li>
</ol>
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