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- #241080 - WOODHOUSE-SAKATI SYNDROME; WDSKS
- OMIM
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<span class="h4">#241080</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/241080"><strong>Clinical Synopsis</strong></a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=WOODHOUSE-SAKATI 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>
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<div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK121988/" title="Neurodegeneration with Brain Iron Accumulation Disorders Overview" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Neurodegeneration with Bra…</a></div><div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK378974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Woodhouse-Sakati Syndrome</a></div>
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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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<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:0112264" 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/241080" 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/OMIA002894/" 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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<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;
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<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> 816067005<br />
<strong>ORPHA:</strong> 3464<br />
<strong>DO:</strong> 0112264<br />
">ICD+</a>
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<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
241080
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
WOODHOUSE-SAKATI SYNDROME; WDSKS
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</h3>
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<div>
<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<em>Alternative titles; symbols</em>
</span>
</p>
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<h4>
<span class="mim-font">
WSS<br />
HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, DEAFNESS, AND EXTRAPYRAMIDAL SYNDROME<br />
EXTRAPYRAMIDAL DISORDER, PROGRESSIVE, WITH PRIMARY HYPOGONADISM, MENTAL RETARDATION, AND ALOPECIA
</span>
</h4>
</div>
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<div>
<br />
</div>
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<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/2/771?start=-3&limit=10&highlight=771">
2q31.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Woodhouse-Sakati syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/241080"> 241080 </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">
DCAF17
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612515"> 612515 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
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<a href="/clinicalSynopsis/241080" 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')">
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PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/241080" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/241080" 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">
- Triangular facies (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000325</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000325</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Deafness, sensorineural <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br /> -
Prominent ears (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275478007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275478007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1305420&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1305420</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000411</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000411</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">
- Prominent nasal root (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854113&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854113</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000426</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000426</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Anodontia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/234951001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">234951001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26624006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26624006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/520.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">520.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0399352&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0399352</a>, <a href="https://bioportal.bioontology.org/search?q=C1504306&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1504306</a>, <a href="https://bioportal.bioontology.org/search?q=C5779669&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5779669</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000674" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000674</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000674" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000674</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- ECG shows flattened T waves <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968711&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968711</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hypogonadism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48130008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48130008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020619&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020619</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000135</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000135</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small penis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34911001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34911001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276333003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276333003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q55.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q55.62</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.64" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.64</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240701&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240701</a>, <a href="https://bioportal.bioontology.org/search?q=C4551492&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551492</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030260</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000054</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000054</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small testes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276411001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276411001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241355</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008734</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008734</a>]</span><br /> -
Testicular biopsy shows hypospermatogenesis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968704&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968704</a>]</span><br /> -
Atrophic seminiferous tubules <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968705&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968705</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Female) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Primary ovarian failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65846009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65846009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237788002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237788002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E28.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E28.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085215</a>]</span><br /> -
Rudimentary fallopian tubes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008697</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008697</a>]</span><br /> -
Hypoplastic uterus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35850006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35850006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q51.811" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q51.811</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.32</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266399</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000013</a>]</span><br /> -
Streak ovaries <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70550008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70550008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q50.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q50.32</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266371&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266371</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010464" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010464</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Alopecia, partial, primarily involving scalp and eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968709&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968709</a>]</span><br /> -
Short, sparse, fine hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968710</a>]</span><br /> -
Loss of eyebrow hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239441&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239441</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Progressive cognitive decline following normal development in childhood (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278393</a>]</span><br /> -
Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Dystonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15802004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15802004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013421</a>, <a href="https://bioportal.bioontology.org/search?q=C0393593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span><br /> -
Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
Choreoathetosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43105007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43105007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085583&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085583</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001266" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001266</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001266" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001266</a>]</span><br /> -
Extrapyramidal symptoms <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43378000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43378000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234133</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002071" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002071</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002071" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002071</a>]</span><br /> -
Psychosis (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/191525009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">191525009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69322001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69322001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F29" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F29</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/298.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">298.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290-299.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290-299.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349204&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349204</a>, <a href="https://bioportal.bioontology.org/search?q=C0033975&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033975</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000709" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000709</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000709" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000709</a>]</span><br /> -
Hallucinations (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7011001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7011001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R44.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R44.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018524&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018524</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000738</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000738</a>]</span><br /> -
MRI shows white matter lesions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968702&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968702</a>]</span><br /> -
MRI shows decreased signal intensities in the basal ganglia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968703&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968703</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ENDOCRINE FEATURES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Diabetes mellitus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/73211009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">73211009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E08-E13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E08-E13</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">250</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011849&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011849</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000819</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000819</a>]</span><br /> -
Hypergonadotropic hypogonadism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/370999003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">370999003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0948896&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0948896</a>, <a href="https://bioportal.bioontology.org/search?q=C1416843&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1416843</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000815" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000815</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000815" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000815</a>]</span><br /> -
Hypogonadotropic hypergonadism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968700&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968700</a>]</span><br /> -
Failure of secondary sexual development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968701&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968701</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
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- Decreased testosterone <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/131078003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">131078003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1295654&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1295654</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040171</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040171</a>]</span><br /> -
Decreased estradiol <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0860850&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0860850</a>]</span><br /> -
Hyperlipidemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55822004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55822004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166816003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166816003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3744001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3744001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E78.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E78.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0428465&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0428465</a>, <a href="https://bioportal.bioontology.org/search?q=C0020476&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020476</a>, <a href="https://bioportal.bioontology.org/search?q=C0020473&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020473</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010980" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010980</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0003077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003077</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003077</a>]</span><br /> -
Decreased serum insulin-like growth factor 1 (IGF1) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837476&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837476</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030353" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030353</a>]</span><br /> -
Increased thyroid-stimulating hormone (TSH) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968707</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/309080005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">309080005</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002925" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002925</a>]</span><br /> -
Decreased thyroxine (T4) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/131093004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">131093004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1295666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1295666</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
Onset of mental impairment in early childhood<br /> -
Onset of other symptoms in adolescence or early adulthood<br /> -
Patients do not have clinical hypothyroidism<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the DDB1- and CUL4-associated factor 17 gene (DCAF17, <a href="/entry/612515#0001">612515.0001</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that Woodhouse-Sakati syndrome (WDSKS) is caused by homozygous mutation in the C2ORF37 gene (DCAF17; <a href="/entry/612515">612515</a>) on chromosome 2q31.</p>
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<strong>Description</strong>
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<p>Woodhouse-Sakati syndrome (WDSKS) is a rare autosomal recessive disorder that encompasses hypogonadism, deafness, alopecia, impaired intellectual development, diabetes mellitus, and progressive extrapyramidal defects (summary by <a href="#3" class="mim-tip-reference" title="Alazami, A. M., Schneider, S. A., Bonneau, D., Pasquier, L., Carecchio, M., Kojovic, M., Steindl, K., de Kerdanet, M., Nezarati, M. M., Bhatia, K. P., Degos, B., Goh, E., Alkuraya, F. S. &lt;strong&gt;C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.&lt;/strong&gt; Clin. Genet. 78: 585-590, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20507343/&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;20507343&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2010.01441.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="20507343">Alazami et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20507343" 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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<strong>Clinical Features</strong>
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<p><a href="#10" class="mim-tip-reference" title="Woodhouse, N. J. Y., Sakati, N. A. &lt;strong&gt;A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.&lt;/strong&gt; J. Med. Genet. 20: 216-219, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6876115/&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;6876115&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.20.3.216&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="6876115">Woodhouse and Sakati (1983)</a> reported a total of 7 Saudi Arabian individuals from 2 consanguineous families with a combination of hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness. The first family had 2 affected males and 2 affected females ranging in age from 16 to 22 years. The second family had 1 affected male and 1 affected female aged 47 and 40 years, respectively. One female from each family initially presented with primary amenorrhea and failure of sexual development. All patients were subsequently found to have hypogonadism with low estradiol or testosterone levels. Luteinizing hormone (LHB; <a href="/entry/152780">152780</a>) and follicle-stimulating hormone (FSH; <a href="/entry/136530">136530</a>) were increased in 2 women (hypergonadotropic ovarian failure) and normal in all the other patients. Three males had hypothalamic hypogonadotrophic testicular failure, and the remaining female had both hypothalamic and ovarian failure. Examination of 1 woman showed hypoplastic uterus, rudimentary fallopian tubes, and streak ovaries. Testicular histology of 1 man showed hypospermatogenesis and prominent Sertoli cells. There was variable loss of eyebrow and scalp hair, the latter being short, sparse, and fine. Hair loss was most severe in the older patients. All patients were diabetic with inappropriately low serum insulin levels. All patients had some degree of mental retardation, ranging from mild to severe. Four patients tested had sensorineural hearing loss. Electrocardiogram (ECG) showed flattening of the T wave in all patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6876115" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Devriendt, K., Legius, E., Fryns, J. P. &lt;strong&gt;Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: a new syndrome?&lt;/strong&gt; Am. J. Med. Genet. 62: 54-57, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8779325/&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;8779325&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1096-8628(19960301)62:1&lt;54::AID-AJMG11&gt;3.0.CO;2-U&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="8779325">Devriendt et al. (1996)</a> reported a brother and sister with a progressive extrapyramidal movement disorder with onset in adolescence associated with progressive alopecia and primary hypogonadism. The parents were first cousins once removed. Of 9 children total, 2 were affected and 1 died immediately after birth with severe arthrogryposis. Progressive learning problems, speech difficulties, and gait disturbance were first observed at age 12 years in the brother. He had decreased muscle strength and hand control, resulting in difficulties in fine motor skills such as writing. He was trained vocationally as a plumber. At age 17 years, he was seen by an endocrinologist for delayed puberty with absence of pubic and facial hair growth and prepubertal testes and penis. Neurologic examination at age 17 showed dystonia of the left arm and dysarthria. Progressive alopecia was observed in the early 20s. At age 47, he was able to walk very little and could produce only a few vocal sounds and had difficulty eating and drinking. His uncontrolled movements were dystonic and choreoathetotic, especially in the upper limbs. The sister showed learning difficulties in primary school and she required special education. At age 14 she developed progressive gait disturbance and was wheelchair-bound by her early 20s. Around the age of 14, a slowly progressive dysarthria and alopecia developed. There was primary amenorrhea, with no development of secondary female sexual characteristics. Facial appearance was very similar to that of her brother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8779325" 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="Gul, D., Ozata, M., Mergen, H., Odabasi, Z., Mergen, M. &lt;strong&gt;Woodhouse and Sakati syndrome (MIM 241080): report of a new patient.&lt;/strong&gt; Clin. Dysmorph. 9: 123-125, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10826625/&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;10826625&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00019605-200009020-00010&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="10826625">Gul et al. (2000)</a> reported a 32-year-old Turkish man with mental retardation, partial alopecia, diabetes mellitus, hypogonadotrophic hypogonadism, deafness, and nervous system involvement. He had a eunuchoid appearance, flat occiput, triangular face, thin and sparse scalp hair (microscopic examination showed pili annulati), high forehead, frontal bossing, mild hypertelorism, and short and sparse eyebrows. Other features included downslanting palpebral fissures, a prominent nasal root, dental malocclusion, and a high-arched palate. Neurologic examination showed dysarthria, mild weakness in the distal muscles, sensory polyneuropathy, and equivocal Babinski sign. Other studies, such as central motor conduction time and brainstem auditory evoked responses, indicated involvement of both the central and peripheral nervous systems. A younger and older brother of the proband had diabetes mellitus and similar facial features, and the older brother died at age 30 of unknown cause. The parents were first cousins. <a href="#5" class="mim-tip-reference" title="Gul, D., Ozata, M., Mergen, H., Odabasi, Z., Mergen, M. &lt;strong&gt;Woodhouse and Sakati syndrome (MIM 241080): report of a new patient.&lt;/strong&gt; Clin. Dysmorph. 9: 123-125, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10826625/&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;10826625&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00019605-200009020-00010&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="10826625">Gul et al. (2000)</a> referred to the disorder in the proband as 'Woodhouse and Sakati syndrome' and suggested autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10826625" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Al-Semari, A., Bohlega, S. &lt;strong&gt;Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1.&lt;/strong&gt; Am. J. Med. Genet. 143A: 149-160, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17167799/&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;17167799&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31497&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="17167799">Al-Semari and Bohlega (2007)</a> reported 12 Saudi families with an autosomal recessive multisystem disorder reminiscent of that described by <a href="#4" class="mim-tip-reference" title="Devriendt, K., Legius, E., Fryns, J. P. &lt;strong&gt;Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: a new syndrome?&lt;/strong&gt; Am. J. Med. Genet. 62: 54-57, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8779325/&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;8779325&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1096-8628(19960301)62:1&lt;54::AID-AJMG11&gt;3.0.CO;2-U&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="8779325">Devriendt et al. (1996)</a>. Ten of the families were consanguineous. One of the families had been previously reported by <a href="#10" class="mim-tip-reference" title="Woodhouse, N. J. Y., Sakati, N. A. &lt;strong&gt;A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.&lt;/strong&gt; J. Med. Genet. 20: 216-219, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6876115/&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;6876115&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.20.3.216&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="6876115">Woodhouse and Sakati (1983)</a> and 3 affected members had since developed a neurologic extrapyramidal syndrome with choreoathetoid movements and dystonia. The proband was unable to stand or walk, had scoliosis, hyperreflexia, and extensor plantar responses. Brain MRI of the proband, 1 sister, and 1 cousin showed diffuse white matter disease. Characteristic features in affected members of the other families included partial alopecia, dystonia, hypogonadism with lack of secondary sexual characteristics, cognitive impairment, deafness, diabetes mellitus, and signal abnormalities on brain MRI. Pelvic examination in female members of affected families showed infantile uterus and/or small ovaries. ECG showed abnormal T waves in 4 patients. Laboratory studies showed that 7 patients had increased FSH and LH, 4 men had low testosterone, and 2 women had low estradiol. Eight patients had biochemical evidence of hypothyroidism. The most striking and consistent laboratory abnormality was low serum insulin growth factor-1 (IGF1; <a href="/entry/147440">147440</a>) with normal growth hormone (GH; <a href="/entry/139250">139250</a>). <a href="#1" class="mim-tip-reference" title="Al-Semari, A., Bohlega, S. &lt;strong&gt;Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1.&lt;/strong&gt; Am. J. Med. Genet. 143A: 149-160, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17167799/&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;17167799&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31497&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="17167799">Al-Semari and Bohlega (2007)</a> suggested that the disorder could be an undescribed type of neuro-endocrine-ectodermal syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17167799+6876115+8779325" 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="Medica, I., Sepcic, J., Peterlin, B. &lt;strong&gt;Woodhouse-Sakati syndrome: case report and symptoms review.&lt;/strong&gt; Genet. Counsel. 18: 227-231, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17710875/&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;17710875&lt;/a&gt;]" pmid="17710875">Medica et al. (2007)</a> reported a 52-year-old woman of Croatian origin who had the phenotypic findings of Woodhouse-Sakati syndrome, including hypogonadism, sparse hair, diabetes mellitus, sensorineural hearing impairment, mild mental retardation, and flattened T waves on EKG. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17710875" 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="Koshy, G., Danda, S., Thomas, N., Mathews, V., Viswanathan, V. &lt;strong&gt;Three siblings with Woodhouse-Sakati syndrome in an Indian family.&lt;/strong&gt; Clin. Dysmorph. 17: 57-60, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18049083/&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;18049083&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/MCD.0b013e3282beb59e&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="18049083">Koshy et al. (2008)</a> reported 3 sibs from a consanguineous Indian family with Woodhouse-Sakati syndrome who showed phenotypic variability. The female proband presented with idiopathic thrombocytopenic purpura and had camptodactyly of the fourth and fifth fingers as did her affected brother. She and her affected sister had hypergonadotropic hypogonadism, whereas their brother had hypogonadotropic hypogonadism. A female cousin of the sibs was reported to have had alopecia and amenorrhea, and was pale and edematous when she died of severe diarrhea and dehydration at 32 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18049083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Schneider, S. A., Bhatia, K. P. &lt;strong&gt;Dystonia in the Woodhouse Sakati syndrome: a new family and literature review.&lt;/strong&gt; Mov. Disord. 23: 592-596, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18175354/&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;18175354&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mds.21886&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="18175354">Schneider and Bhatia (2008)</a> described a brother and sister from a consanguineous Middle Eastern family with adult-onset dystonia associated with sensorineural deafness, seizures, sensory neuropathy, mental retardation, alopecia, hypogonadism, and diabetes mellitus. The authors stated that although these features were suggestive of Woodhouse-Sakati syndrome, they also considered a diagnosis of mitochondrial disease, but mitochondrial mutations and muscle biopsy were negative; other causes of secondary dystonia were also excluded. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18175354" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Steindl, K., Alazami, A. M., Bhatia, K. P., Wuerfel, J. T., Petersen, D., Cartolari, R., Neri, G., Klein, C., Mongiardo, B., Alkuraya, F. S., Schneider, S. A. &lt;strong&gt;A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. (Letter)&lt;/strong&gt; Clin. Genet. 78: 594-597, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21044051/&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;21044051&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2010.01447.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="21044051">Steindl et al. (2010)</a> studied 3 affected members of an Italian family with Woodhouse-Sakati syndrome who were found to have a homozygous nonsense mutation in the C2ORF37 gene (<a href="/entry/612515#0006">612515.0006</a>) by <a href="#3" class="mim-tip-reference" title="Alazami, A. M., Schneider, S. A., Bonneau, D., Pasquier, L., Carecchio, M., Kojovic, M., Steindl, K., de Kerdanet, M., Nezarati, M. M., Bhatia, K. P., Degos, B., Goh, E., Alkuraya, F. S. &lt;strong&gt;C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.&lt;/strong&gt; Clin. Genet. 78: 585-590, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20507343/&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;20507343&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2010.01441.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="20507343">Alazami et al. (2010)</a> (see MOLECULAR GENETICS). The proband was a 58-year-old man who exhibited the full constellation of hypogonadism, alopecia, diabetes mellitus, cognitive impairment, and dystonia. His sister, who was reported to have died at 46 years of age of myocardial infarction and heart block, had autopsy findings that suggested the presence of alopecia and hypogonadism, with complete absence of the uterus. There was also a distant female relative in this pedigree who had similar clinical features to those of the proband; laparoscopy revealed absence of fallopian tubes, streak gonads, and hypoplastic uterus. She also had psychosis and hallucinations; <a href="#9" class="mim-tip-reference" title="Steindl, K., Alazami, A. M., Bhatia, K. P., Wuerfel, J. T., Petersen, D., Cartolari, R., Neri, G., Klein, C., Mongiardo, B., Alkuraya, F. S., Schneider, S. A. &lt;strong&gt;A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. (Letter)&lt;/strong&gt; Clin. Genet. 78: 594-597, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21044051/&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;21044051&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2010.01447.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="21044051">Steindl et al. (2010)</a> stated that psychiatric features should be added to the clinical spectrum of Woodhouse-Sakati syndrome. Examination of photographs at different ages demonstrated the appearance of progressive aging, a triangular face shape with prominent nasal root, and prominent ears with large ear lobes. There was progressive cognitive decline in these patients after normal development in childhood, culminating in severe cognitive impairment with little spontaneous speech in adulthood. In addition, anodontia presented from an early age in all 3 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21044051+20507343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Alazami, A. M., Al-Saif, A., Al-Semari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P., Kaya, N., Colak, D., Khalak, H., Baltus, A., Peterlin, B., Danda, S., Bhatia, K. P., Schneider, S. A., Sakati, N., Walsh, C. A., Al-Mohanna, F., Meyer, B., Alkuraya, F. S. &lt;strong&gt;Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 83: 684-691, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19026396/&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;19026396&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19026396[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2008.10.018&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="19026396">Alazami et al. (2008)</a> performed genomewide linkage analysis on 3 affected sibs from 1 of the original Saudi families described by <a href="#10" class="mim-tip-reference" title="Woodhouse, N. J. Y., Sakati, N. A. &lt;strong&gt;A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.&lt;/strong&gt; J. Med. Genet. 20: 216-219, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6876115/&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;6876115&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.20.3.216&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="6876115">Woodhouse and Sakati (1983)</a> and identified an extended autozygous region encompassing chromosome 2q22.3-q35. Inclusion of another Saudi family with 4 affected sibs confirmed the homozygosity and yielded a maximum multipoint lod score of 6.13 from markers D2S2284 to D2S1791; fine mapping further narrowed the critical region to a 1.2-Mb interval containing 13 known and predicted genes and pseudogenes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19026396+6876115" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of WDSKS in the families reported by <a href="#2" class="mim-tip-reference" title="Alazami, A. M., Al-Saif, A., Al-Semari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P., Kaya, N., Colak, D., Khalak, H., Baltus, A., Peterlin, B., Danda, S., Bhatia, K. P., Schneider, S. A., Sakati, N., Walsh, C. A., Al-Mohanna, F., Meyer, B., Alkuraya, F. S. &lt;strong&gt;Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 83: 684-691, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19026396/&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;19026396&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19026396[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2008.10.018&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="19026396">Alazami et al. (2008)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19026396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 2 Saudi families with Woodhouse-Sakati syndrome, including 1 of the original families described by <a href="#10" class="mim-tip-reference" title="Woodhouse, N. J. Y., Sakati, N. A. &lt;strong&gt;A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.&lt;/strong&gt; J. Med. Genet. 20: 216-219, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6876115/&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;6876115&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.20.3.216&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="6876115">Woodhouse and Sakati (1983)</a>, <a href="#2" class="mim-tip-reference" title="Alazami, A. M., Al-Saif, A., Al-Semari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P., Kaya, N., Colak, D., Khalak, H., Baltus, A., Peterlin, B., Danda, S., Bhatia, K. P., Schneider, S. A., Sakati, N., Walsh, C. A., Al-Mohanna, F., Meyer, B., Alkuraya, F. S. &lt;strong&gt;Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 83: 684-691, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19026396/&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;19026396&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19026396[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2008.10.018&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="19026396">Alazami et al. (2008)</a> identified homozygosity for a 1-bp deletion in the C2ORF37 gene (<a href="/entry/612515#0001">612515.0001</a>); 6 additional Saudi families with the disorder were also found to be homozygous for the mutation. SNP-based haplotype analysis confirmed a founder effect, and the deletion likely arose approximately 55 generations earlier. <a href="#2" class="mim-tip-reference" title="Alazami, A. M., Al-Saif, A., Al-Semari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P., Kaya, N., Colak, D., Khalak, H., Baltus, A., Peterlin, B., Danda, S., Bhatia, K. P., Schneider, S. A., Sakati, N., Walsh, C. A., Al-Mohanna, F., Meyer, B., Alkuraya, F. S. &lt;strong&gt;Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 83: 684-691, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19026396/&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;19026396&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19026396[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2008.10.018&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="19026396">Alazami et al. (2008)</a> subsequently identified homozygosity of a different 1-bp deletion in the C2ORF37 gene (<a href="/entry/612515#0002">612515.0002</a>) in the Eastern European patient previously reported by <a href="#7" class="mim-tip-reference" title="Medica, I., Sepcic, J., Peterlin, B. &lt;strong&gt;Woodhouse-Sakati syndrome: case report and symptoms review.&lt;/strong&gt; Genet. Counsel. 18: 227-231, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17710875/&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;17710875&lt;/a&gt;]" pmid="17710875">Medica et al. (2007)</a>, and respective homozygous splice site mutations (<a href="/entry/612515#0003">612515.0003</a>-<a href="/entry/612515#0004">612515.0004</a>) in the Indian family reported by <a href="#6" class="mim-tip-reference" title="Koshy, G., Danda, S., Thomas, N., Mathews, V., Viswanathan, V. &lt;strong&gt;Three siblings with Woodhouse-Sakati syndrome in an Indian family.&lt;/strong&gt; Clin. Dysmorph. 17: 57-60, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18049083/&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;18049083&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/MCD.0b013e3282beb59e&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="18049083">Koshy et al. (2008)</a> and the Middle Eastern family reported by <a href="#8" class="mim-tip-reference" title="Schneider, S. A., Bhatia, K. P. &lt;strong&gt;Dystonia in the Woodhouse Sakati syndrome: a new family and literature review.&lt;/strong&gt; Mov. Disord. 23: 592-596, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18175354/&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;18175354&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mds.21886&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="18175354">Schneider and Bhatia (2008)</a>. The mutations segregated fully with disease in all families, and were not found in ethnically matched controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6876115+19026396+17710875+18175354+18049083" 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="#3" class="mim-tip-reference" title="Alazami, A. M., Schneider, S. A., Bonneau, D., Pasquier, L., Carecchio, M., Kojovic, M., Steindl, K., de Kerdanet, M., Nezarati, M. M., Bhatia, K. P., Degos, B., Goh, E., Alkuraya, F. S. &lt;strong&gt;C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.&lt;/strong&gt; Clin. Genet. 78: 585-590, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20507343/&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;20507343&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2010.01441.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="20507343">Alazami et al. (2010)</a> analyzed the C2ORF37 gene in 7 patients with Woodhouse-Sakati syndrome from 4 unrelated families, 2 of Italian origin, 1 of French-Gypsy origin, and 1 of Turkish origin, and identified homozygosity for 3 nonsense mutations (<a href="/entry/612515#0005">612515.0005</a>-<a href="/entry/612515#0007">612515.0007</a>) and 1 deletion/insertion mutation (<a href="/entry/612515#0008">612515.0008</a>). Screening of the C2ORF37 gene in a cohort of 11 patients with deafness and dystonia but no hypogonadism, alopecia, or mental retardation did not reveal any mutations, suggesting that mutation in C2ORF37 does not contribute significantly to cases presenting with isolated elements of Woodhouse-Sakati syndrome. <a href="#3" class="mim-tip-reference" title="Alazami, A. M., Schneider, S. A., Bonneau, D., Pasquier, L., Carecchio, M., Kojovic, M., Steindl, K., de Kerdanet, M., Nezarati, M. M., Bhatia, K. P., Degos, B., Goh, E., Alkuraya, F. S. &lt;strong&gt;C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.&lt;/strong&gt; Clin. Genet. 78: 585-590, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20507343/&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;20507343&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2010.01441.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="20507343">Alazami et al. (2010)</a> found no correlation between clinical expressivity and site of mutation, and noted that the intrafamilial variability in the mutation-positive patients indicated that modifiers likely play an important role in this disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20507343" 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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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Al-Semari2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Al-Semari, A., Bohlega, S.
<strong>Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1.</strong>
Am. J. Med. Genet. 143A: 149-160, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17167799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17167799</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17167799" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.31497" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Alazami2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Alazami, A. M., Al-Saif, A., Al-Semari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P., Kaya, N., Colak, D., Khalak, H., Baltus, A., Peterlin, B., Danda, S., Bhatia, K. P., Schneider, S. A., Sakati, N., Walsh, C. A., Al-Mohanna, F., Meyer, B., Alkuraya, F. S.
<strong>Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.</strong>
Am. J. Hum. Genet. 83: 684-691, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19026396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19026396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19026396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19026396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ajhg.2008.10.018" target="_blank">Full Text</a>]
</p>
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<a id="3" class="mim-anchor"></a>
<a id="Alazami2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Alazami, A. M., Schneider, S. A., Bonneau, D., Pasquier, L., Carecchio, M., Kojovic, M., Steindl, K., de Kerdanet, M., Nezarati, M. M., Bhatia, K. P., Degos, B., Goh, E., Alkuraya, F. S.
<strong>C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.</strong>
Clin. Genet. 78: 585-590, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20507343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20507343</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20507343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2010.01441.x" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
<a id="Devriendt1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Devriendt, K., Legius, E., Fryns, J. P.
<strong>Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: a new syndrome?</strong>
Am. J. Med. Genet. 62: 54-57, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8779325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8779325</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8779325" 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)1096-8628(19960301)62:1&lt;54::AID-AJMG11&gt;3.0.CO;2-U" target="_blank">Full Text</a>]
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<a id="Gul2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gul, D., Ozata, M., Mergen, H., Odabasi, Z., Mergen, M.
<strong>Woodhouse and Sakati syndrome (MIM 241080): report of a new patient.</strong>
Clin. Dysmorph. 9: 123-125, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10826625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10826625</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10826625" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/00019605-200009020-00010" target="_blank">Full Text</a>]
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<a id="Koshy2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Koshy, G., Danda, S., Thomas, N., Mathews, V., Viswanathan, V.
<strong>Three siblings with Woodhouse-Sakati syndrome in an Indian family.</strong>
Clin. Dysmorph. 17: 57-60, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18049083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18049083</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18049083" 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/MCD.0b013e3282beb59e" target="_blank">Full Text</a>]
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<a id="Medica2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Medica, I., Sepcic, J., Peterlin, B.
<strong>Woodhouse-Sakati syndrome: case report and symptoms review.</strong>
Genet. Counsel. 18: 227-231, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17710875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17710875</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17710875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
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<a id="8" class="mim-anchor"></a>
<a id="Schneider2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schneider, S. A., Bhatia, K. P.
<strong>Dystonia in the Woodhouse Sakati syndrome: a new family and literature review.</strong>
Mov. Disord. 23: 592-596, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18175354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18175354</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18175354" 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/mds.21886" target="_blank">Full Text</a>]
</p>
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<a id="9" class="mim-anchor"></a>
<a id="Steindl2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Steindl, K., Alazami, A. M., Bhatia, K. P., Wuerfel, J. T., Petersen, D., Cartolari, R., Neri, G., Klein, C., Mongiardo, B., Alkuraya, F. S., Schneider, S. A.
<strong>A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. (Letter)</strong>
Clin. Genet. 78: 594-597, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21044051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21044051</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21044051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2010.01447.x" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
<a id="Woodhouse1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Woodhouse, N. J. Y., Sakati, N. A.
<strong>A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.</strong>
J. Med. Genet. 20: 216-219, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6876115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6876115</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6876115" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.20.3.216" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 5/18/2012
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Marla J. F. O'Neill - updated : 1/26/2009<br>Marla J. F. O'Neill - updated : 1/12/2009<br>Cassandra L. Kniffin - updated : 9/14/2007<br>Cassandra L. Kniffin - updated : 4/13/2007<br>Ada Hamosh - updated : 7/10/2000
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Victor A. McKusick : 6/3/1986
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<h3>
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<strong>#</strong> 241080
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WOODHOUSE-SAKATI SYNDROME; WDSKS
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<em>Alternative titles; symbols</em>
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WSS<br />
HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, DEAFNESS, AND EXTRAPYRAMIDAL SYNDROME<br />
EXTRAPYRAMIDAL DISORDER, PROGRESSIVE, WITH PRIMARY HYPOGONADISM, MENTAL RETARDATION, AND ALOPECIA
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<strong>SNOMEDCT:</strong> 816067005; &nbsp;
<strong>ORPHA:</strong> 3464; &nbsp;
<strong>DO:</strong> 0112264; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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2q31.1
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Woodhouse-Sakati syndrome
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241080
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Autosomal recessive
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3
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DCAF17
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612515
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Woodhouse-Sakati syndrome (WDSKS) is caused by homozygous mutation in the C2ORF37 gene (DCAF17; 612515) on chromosome 2q31.</p>
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<strong>Description</strong>
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<p>Woodhouse-Sakati syndrome (WDSKS) is a rare autosomal recessive disorder that encompasses hypogonadism, deafness, alopecia, impaired intellectual development, diabetes mellitus, and progressive extrapyramidal defects (summary by Alazami et al., 2010). </p>
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<strong>Clinical Features</strong>
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<p>Woodhouse and Sakati (1983) reported a total of 7 Saudi Arabian individuals from 2 consanguineous families with a combination of hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness. The first family had 2 affected males and 2 affected females ranging in age from 16 to 22 years. The second family had 1 affected male and 1 affected female aged 47 and 40 years, respectively. One female from each family initially presented with primary amenorrhea and failure of sexual development. All patients were subsequently found to have hypogonadism with low estradiol or testosterone levels. Luteinizing hormone (LHB; 152780) and follicle-stimulating hormone (FSH; 136530) were increased in 2 women (hypergonadotropic ovarian failure) and normal in all the other patients. Three males had hypothalamic hypogonadotrophic testicular failure, and the remaining female had both hypothalamic and ovarian failure. Examination of 1 woman showed hypoplastic uterus, rudimentary fallopian tubes, and streak ovaries. Testicular histology of 1 man showed hypospermatogenesis and prominent Sertoli cells. There was variable loss of eyebrow and scalp hair, the latter being short, sparse, and fine. Hair loss was most severe in the older patients. All patients were diabetic with inappropriately low serum insulin levels. All patients had some degree of mental retardation, ranging from mild to severe. Four patients tested had sensorineural hearing loss. Electrocardiogram (ECG) showed flattening of the T wave in all patients. </p><p>Devriendt et al. (1996) reported a brother and sister with a progressive extrapyramidal movement disorder with onset in adolescence associated with progressive alopecia and primary hypogonadism. The parents were first cousins once removed. Of 9 children total, 2 were affected and 1 died immediately after birth with severe arthrogryposis. Progressive learning problems, speech difficulties, and gait disturbance were first observed at age 12 years in the brother. He had decreased muscle strength and hand control, resulting in difficulties in fine motor skills such as writing. He was trained vocationally as a plumber. At age 17 years, he was seen by an endocrinologist for delayed puberty with absence of pubic and facial hair growth and prepubertal testes and penis. Neurologic examination at age 17 showed dystonia of the left arm and dysarthria. Progressive alopecia was observed in the early 20s. At age 47, he was able to walk very little and could produce only a few vocal sounds and had difficulty eating and drinking. His uncontrolled movements were dystonic and choreoathetotic, especially in the upper limbs. The sister showed learning difficulties in primary school and she required special education. At age 14 she developed progressive gait disturbance and was wheelchair-bound by her early 20s. Around the age of 14, a slowly progressive dysarthria and alopecia developed. There was primary amenorrhea, with no development of secondary female sexual characteristics. Facial appearance was very similar to that of her brother. </p><p>Gul et al. (2000) reported a 32-year-old Turkish man with mental retardation, partial alopecia, diabetes mellitus, hypogonadotrophic hypogonadism, deafness, and nervous system involvement. He had a eunuchoid appearance, flat occiput, triangular face, thin and sparse scalp hair (microscopic examination showed pili annulati), high forehead, frontal bossing, mild hypertelorism, and short and sparse eyebrows. Other features included downslanting palpebral fissures, a prominent nasal root, dental malocclusion, and a high-arched palate. Neurologic examination showed dysarthria, mild weakness in the distal muscles, sensory polyneuropathy, and equivocal Babinski sign. Other studies, such as central motor conduction time and brainstem auditory evoked responses, indicated involvement of both the central and peripheral nervous systems. A younger and older brother of the proband had diabetes mellitus and similar facial features, and the older brother died at age 30 of unknown cause. The parents were first cousins. Gul et al. (2000) referred to the disorder in the proband as 'Woodhouse and Sakati syndrome' and suggested autosomal recessive inheritance. </p><p>Al-Semari and Bohlega (2007) reported 12 Saudi families with an autosomal recessive multisystem disorder reminiscent of that described by Devriendt et al. (1996). Ten of the families were consanguineous. One of the families had been previously reported by Woodhouse and Sakati (1983) and 3 affected members had since developed a neurologic extrapyramidal syndrome with choreoathetoid movements and dystonia. The proband was unable to stand or walk, had scoliosis, hyperreflexia, and extensor plantar responses. Brain MRI of the proband, 1 sister, and 1 cousin showed diffuse white matter disease. Characteristic features in affected members of the other families included partial alopecia, dystonia, hypogonadism with lack of secondary sexual characteristics, cognitive impairment, deafness, diabetes mellitus, and signal abnormalities on brain MRI. Pelvic examination in female members of affected families showed infantile uterus and/or small ovaries. ECG showed abnormal T waves in 4 patients. Laboratory studies showed that 7 patients had increased FSH and LH, 4 men had low testosterone, and 2 women had low estradiol. Eight patients had biochemical evidence of hypothyroidism. The most striking and consistent laboratory abnormality was low serum insulin growth factor-1 (IGF1; 147440) with normal growth hormone (GH; 139250). Al-Semari and Bohlega (2007) suggested that the disorder could be an undescribed type of neuro-endocrine-ectodermal syndrome. </p><p>Medica et al. (2007) reported a 52-year-old woman of Croatian origin who had the phenotypic findings of Woodhouse-Sakati syndrome, including hypogonadism, sparse hair, diabetes mellitus, sensorineural hearing impairment, mild mental retardation, and flattened T waves on EKG. </p><p>Koshy et al. (2008) reported 3 sibs from a consanguineous Indian family with Woodhouse-Sakati syndrome who showed phenotypic variability. The female proband presented with idiopathic thrombocytopenic purpura and had camptodactyly of the fourth and fifth fingers as did her affected brother. She and her affected sister had hypergonadotropic hypogonadism, whereas their brother had hypogonadotropic hypogonadism. A female cousin of the sibs was reported to have had alopecia and amenorrhea, and was pale and edematous when she died of severe diarrhea and dehydration at 32 years of age. </p><p>Schneider and Bhatia (2008) described a brother and sister from a consanguineous Middle Eastern family with adult-onset dystonia associated with sensorineural deafness, seizures, sensory neuropathy, mental retardation, alopecia, hypogonadism, and diabetes mellitus. The authors stated that although these features were suggestive of Woodhouse-Sakati syndrome, they also considered a diagnosis of mitochondrial disease, but mitochondrial mutations and muscle biopsy were negative; other causes of secondary dystonia were also excluded. </p><p>Steindl et al. (2010) studied 3 affected members of an Italian family with Woodhouse-Sakati syndrome who were found to have a homozygous nonsense mutation in the C2ORF37 gene (612515.0006) by Alazami et al. (2010) (see MOLECULAR GENETICS). The proband was a 58-year-old man who exhibited the full constellation of hypogonadism, alopecia, diabetes mellitus, cognitive impairment, and dystonia. His sister, who was reported to have died at 46 years of age of myocardial infarction and heart block, had autopsy findings that suggested the presence of alopecia and hypogonadism, with complete absence of the uterus. There was also a distant female relative in this pedigree who had similar clinical features to those of the proband; laparoscopy revealed absence of fallopian tubes, streak gonads, and hypoplastic uterus. She also had psychosis and hallucinations; Steindl et al. (2010) stated that psychiatric features should be added to the clinical spectrum of Woodhouse-Sakati syndrome. Examination of photographs at different ages demonstrated the appearance of progressive aging, a triangular face shape with prominent nasal root, and prominent ears with large ear lobes. There was progressive cognitive decline in these patients after normal development in childhood, culminating in severe cognitive impairment with little spontaneous speech in adulthood. In addition, anodontia presented from an early age in all 3 patients. </p>
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<span class="mim-font">
<strong>Mapping</strong>
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<p>Alazami et al. (2008) performed genomewide linkage analysis on 3 affected sibs from 1 of the original Saudi families described by Woodhouse and Sakati (1983) and identified an extended autozygous region encompassing chromosome 2q22.3-q35. Inclusion of another Saudi family with 4 affected sibs confirmed the homozygosity and yielded a maximum multipoint lod score of 6.13 from markers D2S2284 to D2S1791; fine mapping further narrowed the critical region to a 1.2-Mb interval containing 13 known and predicted genes and pseudogenes. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of WDSKS in the families reported by Alazami et al. (2008) was consistent with autosomal recessive inheritance. </p>
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<span class="mim-font">
<strong>Molecular Genetics</strong>
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<p>In affected members of 2 Saudi families with Woodhouse-Sakati syndrome, including 1 of the original families described by Woodhouse and Sakati (1983), Alazami et al. (2008) identified homozygosity for a 1-bp deletion in the C2ORF37 gene (612515.0001); 6 additional Saudi families with the disorder were also found to be homozygous for the mutation. SNP-based haplotype analysis confirmed a founder effect, and the deletion likely arose approximately 55 generations earlier. Alazami et al. (2008) subsequently identified homozygosity of a different 1-bp deletion in the C2ORF37 gene (612515.0002) in the Eastern European patient previously reported by Medica et al. (2007), and respective homozygous splice site mutations (612515.0003-612515.0004) in the Indian family reported by Koshy et al. (2008) and the Middle Eastern family reported by Schneider and Bhatia (2008). The mutations segregated fully with disease in all families, and were not found in ethnically matched controls. </p><p>Alazami et al. (2010) analyzed the C2ORF37 gene in 7 patients with Woodhouse-Sakati syndrome from 4 unrelated families, 2 of Italian origin, 1 of French-Gypsy origin, and 1 of Turkish origin, and identified homozygosity for 3 nonsense mutations (612515.0005-612515.0007) and 1 deletion/insertion mutation (612515.0008). Screening of the C2ORF37 gene in a cohort of 11 patients with deafness and dystonia but no hypogonadism, alopecia, or mental retardation did not reveal any mutations, suggesting that mutation in C2ORF37 does not contribute significantly to cases presenting with isolated elements of Woodhouse-Sakati syndrome. Alazami et al. (2010) found no correlation between clinical expressivity and site of mutation, and noted that the intrafamilial variability in the mutation-positive patients indicated that modifiers likely play an important role in this disease. </p>
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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</h4>
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<ol>
<li>
<p class="mim-text-font">
Al-Semari, A., Bohlega, S.
<strong>Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1.</strong>
Am. J. Med. Genet. 143A: 149-160, 2007.
[PubMed: 17167799]
[Full Text: https://doi.org/10.1002/ajmg.a.31497]
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<li>
<p class="mim-text-font">
Alazami, A. M., Al-Saif, A., Al-Semari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P., Kaya, N., Colak, D., Khalak, H., Baltus, A., Peterlin, B., Danda, S., Bhatia, K. P., Schneider, S. A., Sakati, N., Walsh, C. A., Al-Mohanna, F., Meyer, B., Alkuraya, F. S.
<strong>Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.</strong>
Am. J. Hum. Genet. 83: 684-691, 2008.
[PubMed: 19026396]
[Full Text: https://doi.org/10.1016/j.ajhg.2008.10.018]
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<li>
<p class="mim-text-font">
Alazami, A. M., Schneider, S. A., Bonneau, D., Pasquier, L., Carecchio, M., Kojovic, M., Steindl, K., de Kerdanet, M., Nezarati, M. M., Bhatia, K. P., Degos, B., Goh, E., Alkuraya, F. S.
<strong>C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.</strong>
Clin. Genet. 78: 585-590, 2010.
[PubMed: 20507343]
[Full Text: https://doi.org/10.1111/j.1399-0004.2010.01441.x]
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<li>
<p class="mim-text-font">
Devriendt, K., Legius, E., Fryns, J. P.
<strong>Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: a new syndrome?</strong>
Am. J. Med. Genet. 62: 54-57, 1996.
[PubMed: 8779325]
[Full Text: https://doi.org/10.1002/(SICI)1096-8628(19960301)62:1&lt;54::AID-AJMG11&gt;3.0.CO;2-U]
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<li>
<p class="mim-text-font">
Gul, D., Ozata, M., Mergen, H., Odabasi, Z., Mergen, M.
<strong>Woodhouse and Sakati syndrome (MIM 241080): report of a new patient.</strong>
Clin. Dysmorph. 9: 123-125, 2000.
[PubMed: 10826625]
[Full Text: https://doi.org/10.1097/00019605-200009020-00010]
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<li>
<p class="mim-text-font">
Koshy, G., Danda, S., Thomas, N., Mathews, V., Viswanathan, V.
<strong>Three siblings with Woodhouse-Sakati syndrome in an Indian family.</strong>
Clin. Dysmorph. 17: 57-60, 2008.
[PubMed: 18049083]
[Full Text: https://doi.org/10.1097/MCD.0b013e3282beb59e]
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<li>
<p class="mim-text-font">
Medica, I., Sepcic, J., Peterlin, B.
<strong>Woodhouse-Sakati syndrome: case report and symptoms review.</strong>
Genet. Counsel. 18: 227-231, 2007.
[PubMed: 17710875]
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<li>
<p class="mim-text-font">
Schneider, S. A., Bhatia, K. P.
<strong>Dystonia in the Woodhouse Sakati syndrome: a new family and literature review.</strong>
Mov. Disord. 23: 592-596, 2008.
[PubMed: 18175354]
[Full Text: https://doi.org/10.1002/mds.21886]
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<li>
<p class="mim-text-font">
Steindl, K., Alazami, A. M., Bhatia, K. P., Wuerfel, J. T., Petersen, D., Cartolari, R., Neri, G., Klein, C., Mongiardo, B., Alkuraya, F. S., Schneider, S. A.
<strong>A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. (Letter)</strong>
Clin. Genet. 78: 594-597, 2010.
[PubMed: 21044051]
[Full Text: https://doi.org/10.1111/j.1399-0004.2010.01447.x]
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<li>
<p class="mim-text-font">
Woodhouse, N. J. Y., Sakati, N. A.
<strong>A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.</strong>
J. Med. Genet. 20: 216-219, 1983.
[PubMed: 6876115]
[Full Text: https://doi.org/10.1136/jmg.20.3.216]
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Marla J. F. O&#x27;Neill - updated : 5/18/2012<br>Marla J. F. O&#x27;Neill - updated : 1/26/2009<br>Marla J. F. O&#x27;Neill - updated : 1/12/2009<br>Cassandra L. Kniffin - updated : 9/14/2007<br>Cassandra L. Kniffin - updated : 4/13/2007<br>Ada Hamosh - updated : 7/10/2000
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Victor A. McKusick : 6/3/1986
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Scientific Director, OMIM <br />
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