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Entry
- #194080 - DENYS-DRASH SYNDROME; DDS
- OMIM
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<span class="h4">#194080</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/194080"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#nomenclature">Nomenclature</a>
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<a href="#animalModel">Animal Model</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=DENYS-DRASH SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3552&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK556455/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div id="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:3764" 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/194080" 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/OMIA001142/" 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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:194080" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 236385009<br />
<strong>ORPHA:</strong> 220<br />
<strong>DO:</strong> 3764<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
194080
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
DENYS-DRASH SYNDROME; DDS
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
DRASH SYNDROME<br />
WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM<br />
NEPHROPATHY, WILMS TUMOR, AND GENITAL ANOMALIES
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/284?start=-3&limit=10&highlight=284">
11p13
</a>
</span>
</td>
<td>
<span class="mim-font">
Denys-Drash syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/194080"> 194080 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Somatic mutation">SMu</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">
WT1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607102"> 607102 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/194080" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
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&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/194080" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/194080" 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 dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br /> -
Somatic mutation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124975008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124975008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866227</a>, <a href="https://bioportal.bioontology.org/search?q=C0544886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0544886</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span><br />
</span>
</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> Vascular </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Diaphragm </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Diaphragmatic hernia (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17190001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17190001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39839004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39839004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q79.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q79.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K44.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K44.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K44" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K44</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/553.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">553.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235833&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235833</a>, <a href="https://bioportal.bioontology.org/search?q=C0494752&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0494752</a>, <a href="https://bioportal.bioontology.org/search?q=C0019284&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019284</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000776" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000776</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000776" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000776</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>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Male pseudohermaphroditism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111332007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111332007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q56.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q56.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238395&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238395</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000037" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000037</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000037" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000037</a>]</span><br /> -
Ambiguous genitalia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21321009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21321009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q56.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q56.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000062" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000062</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000062" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000062</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Female) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Ambiguous genitalia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21321009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21321009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q56.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q56.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000062" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000062</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000062" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000062</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">
- Gonadal dysgenesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38804009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38804009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205681004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205681004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q96.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q96.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q96" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q96</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q96.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q96.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/758.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">758.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0041408&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041408</a>, <a href="https://bioportal.bioontology.org/search?q=C0018051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000133</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000133</a>]</span><br /> -
Testicular and ovarian tissue present <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266361&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266361</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010459" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010459</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010459" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010459</a>]</span><br /> -
Gonadal tissue inappropriate for external genitalia or chromosomal sex <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860268&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860268</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003248" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003248</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003248" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003248</a>]</span><br /> -
Gonadoblastoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162858007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162858007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74751003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74751003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206661</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000150</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000150</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">
- Gonadal dysgenesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38804009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38804009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205681004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205681004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q96.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q96.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q96" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q96</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q96.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q96.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/758.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">758.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0041408&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041408</a>, <a href="https://bioportal.bioontology.org/search?q=C0018051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000133</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000133</a>]</span><br /> -
Testicular and ovarian tissue present <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266361&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266361</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010459" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010459</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010459" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010459</a>]</span><br /> -
Gonadal tissue inappropriate for external genitalia or chromosomal sex <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860268&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860268</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003248" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003248</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003248" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003248</a>]</span><br /> -
Gonadoblastoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162858007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162858007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74751003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74751003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206661</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000150</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000150</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Nephropathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90708001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90708001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N28.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N28.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N08" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N08</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022658&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022658</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000112" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000112</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000112" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000112</a>]</span><br /> -
Nephrotic syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52254009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52254009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">581</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027726&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027726</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000100</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000100</a>]</span><br /> -
Chronic/endstage renal failure <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860270&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860270</a>]</span><br /> -
Diffuse mesangial sclerosis glomerulopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111406002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111406002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268747&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268747</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001967" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001967</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001967" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001967</a>]</span><br /> -
Focal segmental glomerulosclerosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236403004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236403004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25821008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25821008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017668&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017668</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000097</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000097</a>]</span><br /> -
Nephroblastoma (Wilms tumor) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25081006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25081006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027708</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002667" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002667</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002667" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002667</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEOPLASIA </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Nephroblastoma (Wilms tumor) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25081006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25081006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027708</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002667" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002667</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002667" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002667</a>]</span><br /> -
Gonadoblastoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162858007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162858007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74751003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74751003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206661</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000150</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000150</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Death usually due to renal failure by average age 3<br /> -
Phenotypic overlap with WAGR syndrome (<a href="/entry/194072">194072</a>), Frasier syndrome (<a href="/entry/136680">136680</a>)<br /> -
Most cases are sporadic<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the WT1 transcription factor gene (WT1, <a href="/entry/607102#0003">607102.0003</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
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<p>A number sign (#) is used with this entry because Denys-Drash syndrome (DDS) is caused by heterozygous mutation in the WT1 gene (<a href="/entry/607102">607102</a>) on chromosome 11p13.</p><p>See also Meacham syndrome (<a href="/entry/608978">608978</a>) and Frasier syndrome (<a href="/entry/136680">136680</a>), allelic disorders with similar clinical features.</p><p>Mutation in the WT1 gene can also cause isolated nephrotic syndrome (NPHS4; <a href="/entry/256370">256370</a>) and isolated Wilms tumor (<a href="/entry/194070">194070</a>).</p>
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<p>Denys-Drash syndrome (DDS) is characterized by urogenital abnormalities, progressive glomerulopathy, and the development of Wilms tumors in early childhood (summary by <a href="#1" class="mim-tip-reference" title="Antonius, T., van Bon, B., Eggink, A., van der Burgt, I., Noordam, K., van Heijst, A. &lt;strong&gt;Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G-A (arg366his) mutation.&lt;/strong&gt; Am. J. Med. Genet. 146A: 496-499, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18203154/&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;18203154&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32168&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="18203154">Antonius et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18203154" 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="#7" class="mim-tip-reference" title="Drash, A., Sherman, F., Hartmann, W. H., Blizzard, R. M. &lt;strong&gt;A syndrome of pseudohermaphroditism, Wilms&#x27; tumor, hypertension, and degenerative renal disease.&lt;/strong&gt; J. Pediat. 76: 585-593, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4316066/&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;4316066&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(70)80409-7&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="4316066">Drash et al. (1970)</a> reported 2 unrelated children with a syndrome comprising pseudohermaphroditism, Wilms tumor, hypertension, and degenerative renal disease. <a href="#3" class="mim-tip-reference" title="Barakat, A. Y., Papadopoulou, Z. L., Chandra, R. S., Hollerman, C. E., Calcagno, P. L. &lt;strong&gt;Pseudohermaphroditism, nephron disorder and Wilms&#x27; tumor: a unifying concept.&lt;/strong&gt; Pediatrics 54: 366-369, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4153449/&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;4153449&lt;/a&gt;]" pmid="4153449">Barakat et al. (1974)</a> reported 3 cases of pseudohermaphroditism, nephron disorder, and Wilms tumor, and made reference to 2 additional unreported cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4153449+4316066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Habib, R., Loirat, C., Gubler, M. C., Niaudet, P., Bensman, A., Levy, M., Broyer, M. &lt;strong&gt;The nephropathy associated with male pseudohermaphroditism and Wilms&#x27; tumor (Drash syndrome): a distinctive glomerular lesion--report of 10 cases.&lt;/strong&gt; Clin. Nephrol. 24: 269-278, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3000666/&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;3000666&lt;/a&gt;]" pmid="3000666">Habib et al. (1985)</a> reported 10 children with features of Drash syndrome. All presented with nephropathy due to diffuse mesangial sclerosis before 2 years of age. Three patients also had male pseudohermaphroditism, 2 also had Wilms tumor, and 5 had all 3 features. Nine patients progressed to chronic or end-stage renal failure within a few months to 2 years from the onset; the tenth was in advanced renal failure at 11 years of age. <a href="#10" class="mim-tip-reference" title="Habib, R., Loirat, C., Gubler, M. C., Niaudet, P., Bensman, A., Levy, M., Broyer, M. &lt;strong&gt;The nephropathy associated with male pseudohermaphroditism and Wilms&#x27; tumor (Drash syndrome): a distinctive glomerular lesion--report of 10 cases.&lt;/strong&gt; Clin. Nephrol. 24: 269-278, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3000666/&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;3000666&lt;/a&gt;]" pmid="3000666">Habib et al. (1985)</a> proposed that the phenotype of Drash syndrome includes patients who have either Wilms tumor or pseudohermaphroditism, with the common denominator being early-onset nephropathy with distinctive glomerular lesions. These associations suggested an antenatal dysgenetic process. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3000666" 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="#21" class="mim-tip-reference" title="Turleau, C., Niaudet, P., Sultan, C., Rault, G., Mahfoud, A., Nihoul-Fekete, C., Iris, L., de Grouchy, J. &lt;strong&gt;Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome.&lt;/strong&gt; Hum. Genet. 75: 81-83, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3026952/&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;3026952&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00273847&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="3026952">Turleau et al. (1987)</a> reported partial androgen receptor (AR; <a href="/entry/313700">313700</a>) deficiency and mixed gonadal dysgenesis in a patient with Drash syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3026952" 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="Friedman, A. L., Finlay, J. L. &lt;strong&gt;The Drash syndrome revisited: diagnosis and follow-up.&lt;/strong&gt; Am. J. Med. Genet. Suppl. 3: 293-296, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2835969/&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;2835969&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320280534&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="2835969">Friedman and Finlay (1987)</a> noted that the sexual abnormality in Drash syndrome is male pseudohermaphroditism, or XY gonadal dysgenesis. In addition, renal failure or Wilms tumor may also develop late. The authors presented a patient without ambiguous genitalia, and suggested that all girls with Wilms tumor should be considered at risk for the Drash syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2835969" 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="#14" class="mim-tip-reference" title="Moorthy, A. V., Chesney, R. W., Lubinsky, M. &lt;strong&gt;Chronic renal failure and XY gonadal dysgenesis: &#x27;Frasier&#x27; syndrome--a commentary on reported cases.&lt;/strong&gt; Am. J. Med. Genet. Suppl. 3: 297-302, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3130865/&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;3130865&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320280535&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="3130865">Moorthy et al. (1987)</a> suggested that some of the patients reported as cases of Drash syndrome in fact had Frasier syndrome (<a href="/entry/136680">136680</a>). <a href="#14" class="mim-tip-reference" title="Moorthy, A. V., Chesney, R. W., Lubinsky, M. &lt;strong&gt;Chronic renal failure and XY gonadal dysgenesis: &#x27;Frasier&#x27; syndrome--a commentary on reported cases.&lt;/strong&gt; Am. J. Med. Genet. Suppl. 3: 297-302, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3130865/&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;3130865&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320280535&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="3130865">Moorthy et al. (1987)</a> discussed 6 previously reported patients with streak gonads, pseudohermaphroditism, and renal failure. In several of the patients the diagnosis was established only after a successful kidney transplantation during evaluation for primary amenorrhea. Gonadoblastoma arising from the streak gonad was noted in 5 of the 6 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3130865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Jadresic, L., Leake, J., Gordon, I., Dillon, M. J., Grant, D. B., Pritchard, J., Risdon, R. A., Barratt, T. M. &lt;strong&gt;Clinicopathologic review of twelve children with nephropathy, Wilms tumor, and genital abnormalities (Drash syndrome).&lt;/strong&gt; J. Pediat. 117: 717-725, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2172500/&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;2172500&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(05)83327-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="2172500">Jadresic et al. (1990)</a> reported 12 children with complete and incomplete forms of Drash syndrome. The common denominator was a nephropathy. Four had the full triad, consisting of nephropathy, Wilms tumor, and genital abnormalities; 5 had nephropathy and genital abnormalities, and 3 had nephropathy and Wilms tumor. Eight of 11 children with proteinuria had the nephrotic syndrome. Of the 10 whose condition progressed to end-stage renal failure, 7 were less than 3 years of age. The histologic features of Wilms tumor were favorable in all 7 children, and the tumor was bilateral in 3. Of the 9 patients who had genital abnormalities, 8 had 46,XY karyotype and either ambiguous genitalia (6) or normal female phenotype (2). One other patient had a normal 46,XX female karyotype and phenotype but had both mullerian and wolffian structures and a streak ovary. Nine patients had a distinct pelvicaliceal abnormality not previously reported as a feature of this syndrome. Other congenital abnormalities were aniridia, mental retardation, deafness, nystagmus, and cleft palate. <a href="#12" class="mim-tip-reference" title="Jadresic, L., Leake, J., Gordon, I., Dillon, M. J., Grant, D. B., Pritchard, J., Risdon, R. A., Barratt, T. M. &lt;strong&gt;Clinicopathologic review of twelve children with nephropathy, Wilms tumor, and genital abnormalities (Drash syndrome).&lt;/strong&gt; J. Pediat. 117: 717-725, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2172500/&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;2172500&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(05)83327-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="2172500">Jadresic et al. (1990)</a> concluded that Drash syndrome must be considered in any infant with unexplained nephropathy, particularly in young phenotypic female infants and in those children with ambiguous genitalia or Wilms tumor with an early presentation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2172500" 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="Devriendt, K., Deloof, E., Moerman, P., Legius, E., Vanhole, C., de Zegher, F., Proesmans, W., Devlieger, H. &lt;strong&gt;Diaphragmatic hernia in Denys-Drash syndrome.&lt;/strong&gt; Am. J. Med. Genet. 57: 97-101, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7645607/&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;7645607&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320570120&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="7645607">Devriendt et al. (1995)</a> described a newborn with male pseudohermaphroditism and glomerular lesions but without Wilms tumor, who had a constitutional heterozygous WT1 mutation (R366H; <a href="/entry/607102#0004">607102.0004</a>). The child also had a large diaphragmatic hernia, a previously undescribed feature of Denys-Drash syndrome. The expression of the WT1 gene in pleural and abdominal mesothelium and the occurrence of diaphragmatic hernia in transgenic mice with a homozygous WT1 deletion strongly suggested that the diaphragmatic hernia in this patient was part of the malformation pattern caused by the WT1 mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7645607" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Schumacher, V., Scharer, K., Wuhl, E., Altrogge, H., Bonzel, K.-E., Guschmann, M., Neuhaus, T. J., Pollastro, R. M., Kuwertz-Broking, E., Bulla, M., Tondera, A.-M., Mundel, P., Helmchen, U., Waldherr, R., Weirich, A., Royer-Pokora, B. &lt;strong&gt;Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations.&lt;/strong&gt; Kidney Int. 53: 1594-1600, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9607189/&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;9607189&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1523-1755.1998.00948.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="9607189">Schumacher et al. (1998)</a> identified WT1 mutations in 10 children with early-onset nephrotic syndrome. Two genotypically female girls had isolated congenital/infantile nephrotic syndrome (NPHS4; <a href="/entry/256370">256370</a>). Seven other patients, all of whom were genotypic males, had additional urogenital features consistent with DDS, such as uterus/vagina, ambiguous genitalia, or micropenis. The eighth child, a genotypic female, developed Wilms tumor at age 18 months, and was thus classified as having incomplete DDS. Renal biopsy showed diffuse mesangial sclerosis in 8 patients and focal segmental glomerulosclerosis in 2. End-stage renal disease was reached either concomitantly or within 4 months after onset of nephrotic syndrome in 7 patients. Four children developed Wilms tumor either before or concomitant with nephrotic syndrome. No WT1 mutations were found in 7 other children with isolated nephrotic syndrome who appeared to have a slower progression than the first group and who did not have Wilms tumor. <a href="#20" class="mim-tip-reference" title="Schumacher, V., Scharer, K., Wuhl, E., Altrogge, H., Bonzel, K.-E., Guschmann, M., Neuhaus, T. J., Pollastro, R. M., Kuwertz-Broking, E., Bulla, M., Tondera, A.-M., Mundel, P., Helmchen, U., Waldherr, R., Weirich, A., Royer-Pokora, B. &lt;strong&gt;Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations.&lt;/strong&gt; Kidney Int. 53: 1594-1600, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9607189/&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;9607189&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1523-1755.1998.00948.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="9607189">Schumacher et al. (1998)</a> proposed that patients with early-onset, rapidly progressive nephrotic syndrome and diffuse mesangial or focal segmental glomerulosclerosis on renal biopsy should be tested for WT1 mutations to identify those at risk for developing Wilms tumor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9607189" 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="Antonius, T., van Bon, B., Eggink, A., van der Burgt, I., Noordam, K., van Heijst, A. &lt;strong&gt;Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G-A (arg366his) mutation.&lt;/strong&gt; Am. J. Med. Genet. 146A: 496-499, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18203154/&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;18203154&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32168&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="18203154">Antonius et al. (2008)</a> reported a patient with Denys-Drash syndrome who was found to have a left-sided congenital diaphragmatic hernia by ultrasound at 23 weeks' gestation. The pregnancy was complicated by oligo- and anhydramnios. At birth, the baby showed normal female genitalia without dysmorphic features and a 46,XY karyotype. There was severe respiratory insufficiency and pulmonary hypertension and the baby died at age 16 hours. Postmortem total body MRI showed double uterus with duplicated cervix and enlarged kidneys with abnormal cortex/medulla differentiation. There were no visible gonads. Genetic analysis identified the R366H mutation in the WT1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18203154" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="mapping" class="mim-anchor"></a>
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<strong>Mapping</strong>
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<p>In a patient with Drash syndrome, including bilateral Wilms tumor and gonadoblastoma, <a href="#4" class="mim-tip-reference" title="Dao, D. D., Schroeder, W. T., Chao, L.-Y., Kikuchi, H., Strong, L. C., Riccardi, V. M., Pathak, S., Nichols, W. W., Lewis, W. H., Saunders, G. F. &lt;strong&gt;Genetic mechanisms of tumor-specific loss of 11p DNA sequences in Wilms tumor.&lt;/strong&gt; Am. J. Hum. Genet. 41: 202-217, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3039839/&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;3039839&lt;/a&gt;]" pmid="3039839">Dao et al. (1987)</a> found tumor-specific loss of heterozygosity for markers on chromosome 11p, as in other types of Wilms tumor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3039839" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 1 of 10 patients with Drash syndrome, <a href="#13" class="mim-tip-reference" title="Jadresic, L., Wadey, R. B., Buckle, B., Barratt, T. M., Mitchell, C. D., Cowell, J. K. &lt;strong&gt;Molecular analysis of chromosome region 11p13 in patients with Drash syndrome.&lt;/strong&gt; Hum. Genet. 86: 497-501, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1849870/&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;1849870&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00194641&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="1849870">Jadresic et al. (1991)</a> found a deletion of region 11p13-p12, the only detectable autosomal chromosome abnormality in any of the patients studied. The authors concluded that deletions or major rearrangements of chromosome 11p13 are uncommon in patients with Drash syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1849870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
<a id="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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</h4>
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<span class="mim-text-font">
<p>The transmission pattern of DDS in the patients reported by <a href="#18" class="mim-tip-reference" title="Pelletier, J., Bruening, W., Kashtan, C. E., Mauer, S. M., Manivel, J. C., Striegel, J. E., Houghton, D. C., Junien, C., Habib, R., Fouser, L., Fine, R. N., Silverman, B. L., Haber, D. A., Housman, D. &lt;strong&gt;Germline mutations in the Wilms&#x27; tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.&lt;/strong&gt; Cell 67: 437-447, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1655284/&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;1655284&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0092-8674(91)90194-4&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="1655284">Pelletier et al. (1991)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1655284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>In 10 patients with Denys-Drash syndrome, <a href="#18" class="mim-tip-reference" title="Pelletier, J., Bruening, W., Kashtan, C. E., Mauer, S. M., Manivel, J. C., Striegel, J. E., Houghton, D. C., Junien, C., Habib, R., Fouser, L., Fine, R. N., Silverman, B. L., Haber, D. A., Housman, D. &lt;strong&gt;Germline mutations in the Wilms&#x27; tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.&lt;/strong&gt; Cell 67: 437-447, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1655284/&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;1655284&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0092-8674(91)90194-4&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="1655284">Pelletier et al. (1991)</a> identified mutations in the WT1 gene (<a href="/entry/607102#0003">607102.0003</a>-<a href="/entry/607102#0006">607102.0006</a>). <a href="#2" class="mim-tip-reference" title="Baird, P. N., Santos, A., Groves, N., Jadresic, L., Cowell, J. K. &lt;strong&gt;Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome.&lt;/strong&gt; Hum. Molec. Genet. 1: 301-305, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1338906/&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;1338906&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/1.5.301&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="1338906">Baird et al. (1992)</a> demonstrated heterozygous constitutional mutations in 6 of 8 patients with the Denys-Drash syndrome. The mutations were the same as those identified by <a href="#18" class="mim-tip-reference" title="Pelletier, J., Bruening, W., Kashtan, C. E., Mauer, S. M., Manivel, J. C., Striegel, J. E., Houghton, D. C., Junien, C., Habib, R., Fouser, L., Fine, R. N., Silverman, B. L., Haber, D. A., Housman, D. &lt;strong&gt;Germline mutations in the Wilms&#x27; tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.&lt;/strong&gt; Cell 67: 437-447, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1655284/&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;1655284&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0092-8674(91)90194-4&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="1655284">Pelletier et al. (1991)</a>. Clinical features of 6 patients had previously been described by <a href="#12" class="mim-tip-reference" title="Jadresic, L., Leake, J., Gordon, I., Dillon, M. J., Grant, D. B., Pritchard, J., Risdon, R. A., Barratt, T. M. &lt;strong&gt;Clinicopathologic review of twelve children with nephropathy, Wilms tumor, and genital abnormalities (Drash syndrome).&lt;/strong&gt; J. Pediat. 117: 717-725, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2172500/&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;2172500&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(05)83327-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="2172500">Jadresic et al. (1990)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2172500+1655284+1338906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Hastie, N. D. &lt;strong&gt;Dominant negative mutations in the Wilms tumour (WT1) gene cause Denys-Drash syndrome--proof that a tumour-suppressor gene plays a crucial role in normal genitourinary development.&lt;/strong&gt; Hum. Molec. Genet. 1: 293-295, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1338905/&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;1338905&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/1.5.293&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="1338905">Hastie (1992)</a> reviewed the evidence showing that dominant-negative mutations in the WT1 gene cause Denys-Drash syndrome and noted that this proves that the WT1 tumor suppressor gene plays a crucial role in normal genitourinary development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1338905" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Mueller, R. F. &lt;strong&gt;The Denys-Drash syndrome.&lt;/strong&gt; J. Med. Genet. 31: 471-477, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8071974/&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;8071974&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.31.6.471&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="8071974">Mueller (1994)</a> reviewed the Denys-Drash syndrome in detail on the basis of 150 reported cases. A tabulation was provided of 25 reported mutations in the WT1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8071974" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="nomenclature" class="mim-anchor"></a>
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<strong>Nomenclature</strong>
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<p><a href="#9" class="mim-tip-reference" title="Garfunkel, J. M. &lt;strong&gt;Comment.&lt;/strong&gt; J. Pediat. 107: 998 only, 1985."None>Garfunkel (1985)</a> suggested the eponym 'Denys-Drash syndrome' because the constellation of anomalies was first described by <a href="#5" class="mim-tip-reference" title="Denys, P., Malvaux, P., van den Berghe, H., Tanghe, W., Proesmans, W. &lt;strong&gt;Association d&#x27;un syndrome anatomo-pathologique de pseudohermaphrodisme masculin, d&#x27;une tumeur de Wilms, d&#x27;une nephropathie parenchymateuse et d&#x27;un mosaicisme XX/XY.&lt;/strong&gt; Arch. Franc. Pediat. 24: 729-739, 1967.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4292870/&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;4292870&lt;/a&gt;]" pmid="4292870">Denys et al. (1967)</a> in the French literature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4292870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="animalModel" class="mim-anchor"></a>
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<strong>Animal Model</strong>
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<p><a href="#17" class="mim-tip-reference" title="Patek, C. E., Little, M. H., Fleming, S., Miles, C., Charlieu, J.-P., Clarke, A. R., Miyagawa, K., Christie, S., Doig, J., Harrison, D. J., Porteous, D. J., Brookes, A. J., Hooper, M. L., Hastie, N. D. &lt;strong&gt;A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome.&lt;/strong&gt; Proc. Nat. Acad. Sci. 96: 2931-2936, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10077614/&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;10077614&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10077614[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/10.1073/pnas.96.6.2931&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="10077614">Patek et al. (1999)</a> reported that heterozygosity for a Wt1 mutation that truncated zinc finger-3 at codon 396 induced DDS in heterozygous and chimeric mice. <a href="#16" class="mim-tip-reference" title="Patek, C. E., Fleming, S., Miles, C. G., Bellamy, C. O., Ladomery, M., Spraggon, L., Mullins, J., Hastie, N. D., Hooper, M. L. &lt;strong&gt;Murine Denys-Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis.&lt;/strong&gt; Hum. Molec. Genet. 12: 2379-2394, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12915483/&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;12915483&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddg240&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="12915483">Patek et al. (2003)</a> further showed that Wt1 mutant mouse cells colonized glomeruli efficiently, including podocytes, but some sclerotic glomeruli contained no detectable Wt1 mutant cells. The development of glomerulosclerosis was preceded by widespread loss of Zo1 (<a href="/entry/601009">601009</a>) signal in podocytes, increased intrarenal renin (<a href="/entry/179820">179820</a>) expression, and de novo podocyte TGF-beta-1 (<a href="/entry/190180">190180</a>) expression, but not podocyte Pax2 expression or loss of Wt1, synaptopodin (<a href="/entry/608155">608155</a>), alpha-actinin-4 (<a href="/entry/604638">604638</a>), or nephrin (<a href="/entry/602716">602716</a>) expression. However, podocytes in partially sclerotic glomeruli that still expressed WT1 at high levels showed reduced vimentin (<a href="/entry/193060">193060</a>) expression, cell cycle reentry, and reexpressed desmin (<a href="/entry/125660">125660</a>), cytokeratin (<a href="/entry/139350">139350</a>), and Pax2. The authors suggested that (i) glomerulosclerosis may not be due to loss of WT1 expression by podocytes; (ii) podocyte PAX2 expression may reflect reexpression rather than persistent expression, and may be the consequence of glomerulosclerosis; (iii) glomerulosclerosis may be mediated systemically and the mechanism may involve activation of the renin-angiotensin system; and (iv) podocytes may undergo typical maturational changes but subsequently dedifferentiate and revert to an immature phenotype during disease progression. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10077614+12915483" 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>Defects in the WT1 gene are thought to modify the crosstalk between podocytes and other glomerular cells and ultimately lead to glomerular sclerosis, as observed in diffuse mesangial sclerosis (DMS). To identify podocyte WT1 targets, <a href="#19" class="mim-tip-reference" title="Ratelade, J., Arrondel, C., Hamard, G., Garbay, S., Harvey, S., Biebuyck, N., Schulz, H., Hastie, N., Pontoglio, M., Gubler, M.-C., Antignac, C., Heidet, L. &lt;strong&gt;A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes.&lt;/strong&gt; Hum. Molec. Genet. 19: 1-15, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19797313/&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;19797313&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddp462&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="19797313">Ratelade et al. (2010)</a> generated a novel DMS mouse line, performed gene expression profiling in isolated glomeruli, and identified candidates that may modify podocyte differentiation and growth factor signaling in glomeruli. Sciellin (SCEL; <a href="/entry/604112">604112</a>) and Sulf1 (<a href="/entry/610012">610012</a>), which encodes a 6-O-endosulfatase, were expressed in wildtype podocytes and strongly downregulated in mutants. Coexpression of Wt1, Scel, and Sulf1 was found in a mesonephric cell line, and siRNA-mediated knockdown of WT1 decreased Scel and Sulf1 mRNAs and proteins. ChIP assay showed that Scel and Sulf1 were direct WT1 targets. Cyp26a1 (<a href="/entry/602239">602239</a>), encoding an enzyme involved in the degradation of retinoic acid, was upregulated in mutant podocytes. <a href="#19" class="mim-tip-reference" title="Ratelade, J., Arrondel, C., Hamard, G., Garbay, S., Harvey, S., Biebuyck, N., Schulz, H., Hastie, N., Pontoglio, M., Gubler, M.-C., Antignac, C., Heidet, L. &lt;strong&gt;A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes.&lt;/strong&gt; Hum. Molec. Genet. 19: 1-15, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19797313/&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;19797313&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddp462&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="19797313">Ratelade et al. (2010)</a> noted that CYP26A1 may play a role in the development of glomerular lesions but does not seem to be regulated by WT1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19797313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="references"class="mim-anchor"></a>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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</div>
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<ol>
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<a id="Antonius2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Antonius, T., van Bon, B., Eggink, A., van der Burgt, I., Noordam, K., van Heijst, A.
<strong>Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G-A (arg366his) mutation.</strong>
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[<a href="https://doi.org/10.1002/ajmg.a.32168" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Baird1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Baird, P. N., Santos, A., Groves, N., Jadresic, L., Cowell, J. K.
<strong>Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome.</strong>
Hum. Molec. Genet. 1: 301-305, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1338906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1338906</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1338906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/1.5.301" target="_blank">Full Text</a>]
</p>
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<a id="3" class="mim-anchor"></a>
<a id="Barakat1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Barakat, A. Y., Papadopoulou, Z. L., Chandra, R. S., Hollerman, C. E., Calcagno, P. L.
<strong>Pseudohermaphroditism, nephron disorder and Wilms' tumor: a unifying concept.</strong>
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<a id="4" class="mim-anchor"></a>
<a id="Dao1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dao, D. D., Schroeder, W. T., Chao, L.-Y., Kikuchi, H., Strong, L. C., Riccardi, V. M., Pathak, S., Nichols, W. W., Lewis, W. H., Saunders, G. F.
<strong>Genetic mechanisms of tumor-specific loss of 11p DNA sequences in Wilms tumor.</strong>
Am. J. Hum. Genet. 41: 202-217, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3039839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3039839</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3039839" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Denys1967" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Denys, P., Malvaux, P., van den Berghe, H., Tanghe, W., Proesmans, W.
<strong>Association d'un syndrome anatomo-pathologique de pseudohermaphrodisme masculin, d'une tumeur de Wilms, d'une nephropathie parenchymateuse et d'un mosaicisme XX/XY.</strong>
Arch. Franc. Pediat. 24: 729-739, 1967.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4292870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4292870</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4292870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<li>
<a id="6" class="mim-anchor"></a>
<a id="Devriendt1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Devriendt, K., Deloof, E., Moerman, P., Legius, E., Vanhole, C., de Zegher, F., Proesmans, W., Devlieger, H.
<strong>Diaphragmatic hernia in Denys-Drash syndrome.</strong>
Am. J. Med. Genet. 57: 97-101, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7645607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7645607</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7645607" 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.1320570120" target="_blank">Full Text</a>]
</p>
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<li>
<a id="7" class="mim-anchor"></a>
<a id="Drash1970" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Drash, A., Sherman, F., Hartmann, W. H., Blizzard, R. M.
<strong>A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease.</strong>
J. Pediat. 76: 585-593, 1970.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4316066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4316066</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4316066" 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/s0022-3476(70)80409-7" target="_blank">Full Text</a>]
</p>
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<a id="8" class="mim-anchor"></a>
<a id="Friedman1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Friedman, A. L., Finlay, J. L.
<strong>The Drash syndrome revisited: diagnosis and follow-up.</strong>
Am. J. Med. Genet. Suppl. 3: 293-296, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2835969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2835969</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2835969" 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.1320280534" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
<a id="Garfunkel1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Garfunkel, J. M.
<strong>Comment.</strong>
J. Pediat. 107: 998 only, 1985.
</p>
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<li>
<a id="10" class="mim-anchor"></a>
<a id="Habib1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Habib, R., Loirat, C., Gubler, M. C., Niaudet, P., Bensman, A., Levy, M., Broyer, M.
<strong>The nephropathy associated with male pseudohermaphroditism and Wilms' tumor (Drash syndrome): a distinctive glomerular lesion--report of 10 cases.</strong>
Clin. Nephrol. 24: 269-278, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3000666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3000666</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3000666" 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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<li>
<a id="11" class="mim-anchor"></a>
<a id="Hastie1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hastie, N. D.
<strong>Dominant negative mutations in the Wilms tumour (WT1) gene cause Denys-Drash syndrome--proof that a tumour-suppressor gene plays a crucial role in normal genitourinary development.</strong>
Hum. Molec. Genet. 1: 293-295, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1338905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1338905</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1338905" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/1.5.293" target="_blank">Full Text</a>]
</p>
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<li>
<a id="12" class="mim-anchor"></a>
<a id="Jadresic1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Jadresic, L., Leake, J., Gordon, I., Dillon, M. J., Grant, D. B., Pritchard, J., Risdon, R. A., Barratt, T. M.
<strong>Clinicopathologic review of twelve children with nephropathy, Wilms tumor, and genital abnormalities (Drash syndrome).</strong>
J. Pediat. 117: 717-725, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2172500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2172500</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2172500" 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/s0022-3476(05)83327-x" target="_blank">Full Text</a>]
</p>
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<li>
<a id="13" class="mim-anchor"></a>
<a id="Jadresic1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Jadresic, L., Wadey, R. B., Buckle, B., Barratt, T. M., Mitchell, C. D., Cowell, J. K.
<strong>Molecular analysis of chromosome region 11p13 in patients with Drash syndrome.</strong>
Hum. Genet. 86: 497-501, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1849870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1849870</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1849870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00194641" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
<a id="Moorthy1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Moorthy, A. V., Chesney, R. W., Lubinsky, M.
<strong>Chronic renal failure and XY gonadal dysgenesis: 'Frasier' syndrome--a commentary on reported cases.</strong>
Am. J. Med. Genet. Suppl. 3: 297-302, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3130865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3130865</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3130865" 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.1320280535" target="_blank">Full Text</a>]
</p>
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<a id="15" class="mim-anchor"></a>
<a id="Mueller1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mueller, R. F.
<strong>The Denys-Drash syndrome.</strong>
J. Med. Genet. 31: 471-477, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8071974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8071974</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8071974" 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.31.6.471" target="_blank">Full Text</a>]
</p>
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<a id="16" class="mim-anchor"></a>
<a id="Patek2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Patek, C. E., Fleming, S., Miles, C. G., Bellamy, C. O., Ladomery, M., Spraggon, L., Mullins, J., Hastie, N. D., Hooper, M. L.
<strong>Murine Denys-Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis.</strong>
Hum. Molec. Genet. 12: 2379-2394, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12915483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12915483</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12915483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddg240" target="_blank">Full Text</a>]
</p>
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<a id="17" class="mim-anchor"></a>
<a id="Patek1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Patek, C. E., Little, M. H., Fleming, S., Miles, C., Charlieu, J.-P., Clarke, A. R., Miyagawa, K., Christie, S., Doig, J., Harrison, D. J., Porteous, D. J., Brookes, A. J., Hooper, M. L., Hastie, N. D.
<strong>A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome.</strong>
Proc. Nat. Acad. Sci. 96: 2931-2936, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10077614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10077614</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10077614[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=10077614" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.96.6.2931" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
<a id="Pelletier1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pelletier, J., Bruening, W., Kashtan, C. E., Mauer, S. M., Manivel, J. C., Striegel, J. E., Houghton, D. C., Junien, C., Habib, R., Fouser, L., Fine, R. N., Silverman, B. L., Haber, D. A., Housman, D.
<strong>Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.</strong>
Cell 67: 437-447, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1655284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1655284</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1655284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0092-8674(91)90194-4" target="_blank">Full Text</a>]
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<a id="Ratelade2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ratelade, J., Arrondel, C., Hamard, G., Garbay, S., Harvey, S., Biebuyck, N., Schulz, H., Hastie, N., Pontoglio, M., Gubler, M.-C., Antignac, C., Heidet, L.
<strong>A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes.</strong>
Hum. Molec. Genet. 19: 1-15, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19797313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19797313</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19797313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddp462" target="_blank">Full Text</a>]
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<a id="Schumacher1998" class="mim-anchor"></a>
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<p class="mim-text-font">
Schumacher, V., Scharer, K., Wuhl, E., Altrogge, H., Bonzel, K.-E., Guschmann, M., Neuhaus, T. J., Pollastro, R. M., Kuwertz-Broking, E., Bulla, M., Tondera, A.-M., Mundel, P., Helmchen, U., Waldherr, R., Weirich, A., Royer-Pokora, B.
<strong>Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations.</strong>
Kidney Int. 53: 1594-1600, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9607189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9607189</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9607189" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1046/j.1523-1755.1998.00948.x" target="_blank">Full Text</a>]
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<a id="Turleau1987" class="mim-anchor"></a>
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Turleau, C., Niaudet, P., Sultan, C., Rault, G., Mahfoud, A., Nihoul-Fekete, C., Iris, L., de Grouchy, J.
<strong>Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome.</strong>
Hum. Genet. 75: 81-83, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3026952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3026952</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3026952" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00273847" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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George E. Tiller - updated : 11/12/2010
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Cassandra L. Kniffin - updated : 10/21/2010<br>Cassandra L. Kniffin - reorganized : 3/11/2008<br>George E. Tiller - updated : 9/9/2005
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Victor A. McKusick : 6/2/1986
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alopez : 05/03/2024
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carol : 12/20/2023<br>carol : 05/19/2016<br>wwang : 11/18/2010<br>terry : 11/12/2010<br>carol : 11/4/2010<br>ckniffin : 10/21/2010<br>terry : 9/26/2008<br>carol : 4/11/2008<br>carol : 3/11/2008<br>ckniffin : 2/26/2008<br>alopez : 10/19/2005<br>terry : 9/9/2005<br>carol : 8/30/2005<br>carol : 8/30/2005<br>ckniffin : 8/26/2002<br>dkim : 9/11/1998<br>mark : 6/20/1995<br>mimadm : 6/7/1995<br>terry : 7/26/1994<br>carol : 4/7/1994<br>carol : 6/25/1993<br>carol : 12/14/1992
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<h3>
<span class="mim-font">
<strong>#</strong> 194080
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<span class="mim-font">
DENYS-DRASH SYNDROME; DDS
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<em>Alternative titles; symbols</em>
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DRASH SYNDROME<br />
WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM<br />
NEPHROPATHY, WILMS TUMOR, AND GENITAL ANOMALIES
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<strong>SNOMEDCT:</strong> 236385009; &nbsp;
<strong>ORPHA:</strong> 220; &nbsp;
<strong>DO:</strong> 3764; &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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<span class="mim-font">
11p13
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Denys-Drash syndrome
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194080
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Autosomal dominant; Somatic mutation
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3
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WT1
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607102
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Denys-Drash syndrome (DDS) is caused by heterozygous mutation in the WT1 gene (607102) on chromosome 11p13.</p><p>See also Meacham syndrome (608978) and Frasier syndrome (136680), allelic disorders with similar clinical features.</p><p>Mutation in the WT1 gene can also cause isolated nephrotic syndrome (NPHS4; 256370) and isolated Wilms tumor (194070).</p>
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<strong>Description</strong>
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<p>Denys-Drash syndrome (DDS) is characterized by urogenital abnormalities, progressive glomerulopathy, and the development of Wilms tumors in early childhood (summary by Antonius et al., 2008). </p>
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<strong>Clinical Features</strong>
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<p>Drash et al. (1970) reported 2 unrelated children with a syndrome comprising pseudohermaphroditism, Wilms tumor, hypertension, and degenerative renal disease. Barakat et al. (1974) reported 3 cases of pseudohermaphroditism, nephron disorder, and Wilms tumor, and made reference to 2 additional unreported cases. </p><p>Habib et al. (1985) reported 10 children with features of Drash syndrome. All presented with nephropathy due to diffuse mesangial sclerosis before 2 years of age. Three patients also had male pseudohermaphroditism, 2 also had Wilms tumor, and 5 had all 3 features. Nine patients progressed to chronic or end-stage renal failure within a few months to 2 years from the onset; the tenth was in advanced renal failure at 11 years of age. Habib et al. (1985) proposed that the phenotype of Drash syndrome includes patients who have either Wilms tumor or pseudohermaphroditism, with the common denominator being early-onset nephropathy with distinctive glomerular lesions. These associations suggested an antenatal dysgenetic process. </p><p>Turleau et al. (1987) reported partial androgen receptor (AR; 313700) deficiency and mixed gonadal dysgenesis in a patient with Drash syndrome. </p><p>Friedman and Finlay (1987) noted that the sexual abnormality in Drash syndrome is male pseudohermaphroditism, or XY gonadal dysgenesis. In addition, renal failure or Wilms tumor may also develop late. The authors presented a patient without ambiguous genitalia, and suggested that all girls with Wilms tumor should be considered at risk for the Drash syndrome. </p><p>Moorthy et al. (1987) suggested that some of the patients reported as cases of Drash syndrome in fact had Frasier syndrome (136680). Moorthy et al. (1987) discussed 6 previously reported patients with streak gonads, pseudohermaphroditism, and renal failure. In several of the patients the diagnosis was established only after a successful kidney transplantation during evaluation for primary amenorrhea. Gonadoblastoma arising from the streak gonad was noted in 5 of the 6 patients. </p><p>Jadresic et al. (1990) reported 12 children with complete and incomplete forms of Drash syndrome. The common denominator was a nephropathy. Four had the full triad, consisting of nephropathy, Wilms tumor, and genital abnormalities; 5 had nephropathy and genital abnormalities, and 3 had nephropathy and Wilms tumor. Eight of 11 children with proteinuria had the nephrotic syndrome. Of the 10 whose condition progressed to end-stage renal failure, 7 were less than 3 years of age. The histologic features of Wilms tumor were favorable in all 7 children, and the tumor was bilateral in 3. Of the 9 patients who had genital abnormalities, 8 had 46,XY karyotype and either ambiguous genitalia (6) or normal female phenotype (2). One other patient had a normal 46,XX female karyotype and phenotype but had both mullerian and wolffian structures and a streak ovary. Nine patients had a distinct pelvicaliceal abnormality not previously reported as a feature of this syndrome. Other congenital abnormalities were aniridia, mental retardation, deafness, nystagmus, and cleft palate. Jadresic et al. (1990) concluded that Drash syndrome must be considered in any infant with unexplained nephropathy, particularly in young phenotypic female infants and in those children with ambiguous genitalia or Wilms tumor with an early presentation. </p><p>Devriendt et al. (1995) described a newborn with male pseudohermaphroditism and glomerular lesions but without Wilms tumor, who had a constitutional heterozygous WT1 mutation (R366H; 607102.0004). The child also had a large diaphragmatic hernia, a previously undescribed feature of Denys-Drash syndrome. The expression of the WT1 gene in pleural and abdominal mesothelium and the occurrence of diaphragmatic hernia in transgenic mice with a homozygous WT1 deletion strongly suggested that the diaphragmatic hernia in this patient was part of the malformation pattern caused by the WT1 mutation. </p><p>Schumacher et al. (1998) identified WT1 mutations in 10 children with early-onset nephrotic syndrome. Two genotypically female girls had isolated congenital/infantile nephrotic syndrome (NPHS4; 256370). Seven other patients, all of whom were genotypic males, had additional urogenital features consistent with DDS, such as uterus/vagina, ambiguous genitalia, or micropenis. The eighth child, a genotypic female, developed Wilms tumor at age 18 months, and was thus classified as having incomplete DDS. Renal biopsy showed diffuse mesangial sclerosis in 8 patients and focal segmental glomerulosclerosis in 2. End-stage renal disease was reached either concomitantly or within 4 months after onset of nephrotic syndrome in 7 patients. Four children developed Wilms tumor either before or concomitant with nephrotic syndrome. No WT1 mutations were found in 7 other children with isolated nephrotic syndrome who appeared to have a slower progression than the first group and who did not have Wilms tumor. Schumacher et al. (1998) proposed that patients with early-onset, rapidly progressive nephrotic syndrome and diffuse mesangial or focal segmental glomerulosclerosis on renal biopsy should be tested for WT1 mutations to identify those at risk for developing Wilms tumor. </p><p>Antonius et al. (2008) reported a patient with Denys-Drash syndrome who was found to have a left-sided congenital diaphragmatic hernia by ultrasound at 23 weeks' gestation. The pregnancy was complicated by oligo- and anhydramnios. At birth, the baby showed normal female genitalia without dysmorphic features and a 46,XY karyotype. There was severe respiratory insufficiency and pulmonary hypertension and the baby died at age 16 hours. Postmortem total body MRI showed double uterus with duplicated cervix and enlarged kidneys with abnormal cortex/medulla differentiation. There were no visible gonads. Genetic analysis identified the R366H mutation in the WT1 gene. </p>
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<strong>Mapping</strong>
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<p>In a patient with Drash syndrome, including bilateral Wilms tumor and gonadoblastoma, Dao et al. (1987) found tumor-specific loss of heterozygosity for markers on chromosome 11p, as in other types of Wilms tumor. </p><p>In 1 of 10 patients with Drash syndrome, Jadresic et al. (1991) found a deletion of region 11p13-p12, the only detectable autosomal chromosome abnormality in any of the patients studied. The authors concluded that deletions or major rearrangements of chromosome 11p13 are uncommon in patients with Drash syndrome. </p>
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<strong>Inheritance</strong>
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<span class="mim-text-font">
<p>The transmission pattern of DDS in the patients reported by Pelletier et al. (1991) was consistent with autosomal dominant inheritance. </p>
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<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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<p>In 10 patients with Denys-Drash syndrome, Pelletier et al. (1991) identified mutations in the WT1 gene (607102.0003-607102.0006). Baird et al. (1992) demonstrated heterozygous constitutional mutations in 6 of 8 patients with the Denys-Drash syndrome. The mutations were the same as those identified by Pelletier et al. (1991). Clinical features of 6 patients had previously been described by Jadresic et al. (1990). </p><p>Hastie (1992) reviewed the evidence showing that dominant-negative mutations in the WT1 gene cause Denys-Drash syndrome and noted that this proves that the WT1 tumor suppressor gene plays a crucial role in normal genitourinary development. </p><p>Mueller (1994) reviewed the Denys-Drash syndrome in detail on the basis of 150 reported cases. A tabulation was provided of 25 reported mutations in the WT1 gene. </p>
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<span class="mim-font">
<strong>Nomenclature</strong>
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<span class="mim-text-font">
<p>Garfunkel (1985) suggested the eponym 'Denys-Drash syndrome' because the constellation of anomalies was first described by Denys et al. (1967) in the French literature. </p>
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<strong>Animal Model</strong>
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<p>Patek et al. (1999) reported that heterozygosity for a Wt1 mutation that truncated zinc finger-3 at codon 396 induced DDS in heterozygous and chimeric mice. Patek et al. (2003) further showed that Wt1 mutant mouse cells colonized glomeruli efficiently, including podocytes, but some sclerotic glomeruli contained no detectable Wt1 mutant cells. The development of glomerulosclerosis was preceded by widespread loss of Zo1 (601009) signal in podocytes, increased intrarenal renin (179820) expression, and de novo podocyte TGF-beta-1 (190180) expression, but not podocyte Pax2 expression or loss of Wt1, synaptopodin (608155), alpha-actinin-4 (604638), or nephrin (602716) expression. However, podocytes in partially sclerotic glomeruli that still expressed WT1 at high levels showed reduced vimentin (193060) expression, cell cycle reentry, and reexpressed desmin (125660), cytokeratin (139350), and Pax2. The authors suggested that (i) glomerulosclerosis may not be due to loss of WT1 expression by podocytes; (ii) podocyte PAX2 expression may reflect reexpression rather than persistent expression, and may be the consequence of glomerulosclerosis; (iii) glomerulosclerosis may be mediated systemically and the mechanism may involve activation of the renin-angiotensin system; and (iv) podocytes may undergo typical maturational changes but subsequently dedifferentiate and revert to an immature phenotype during disease progression. </p><p>Defects in the WT1 gene are thought to modify the crosstalk between podocytes and other glomerular cells and ultimately lead to glomerular sclerosis, as observed in diffuse mesangial sclerosis (DMS). To identify podocyte WT1 targets, Ratelade et al. (2010) generated a novel DMS mouse line, performed gene expression profiling in isolated glomeruli, and identified candidates that may modify podocyte differentiation and growth factor signaling in glomeruli. Sciellin (SCEL; 604112) and Sulf1 (610012), which encodes a 6-O-endosulfatase, were expressed in wildtype podocytes and strongly downregulated in mutants. Coexpression of Wt1, Scel, and Sulf1 was found in a mesonephric cell line, and siRNA-mediated knockdown of WT1 decreased Scel and Sulf1 mRNAs and proteins. ChIP assay showed that Scel and Sulf1 were direct WT1 targets. Cyp26a1 (602239), encoding an enzyme involved in the degradation of retinoic acid, was upregulated in mutant podocytes. Ratelade et al. (2010) noted that CYP26A1 may play a role in the development of glomerular lesions but does not seem to be regulated by WT1. </p>
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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<ol>
<li>
<p class="mim-text-font">
Antonius, T., van Bon, B., Eggink, A., van der Burgt, I., Noordam, K., van Heijst, A.
<strong>Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G-A (arg366his) mutation.</strong>
Am. J. Med. Genet. 146A: 496-499, 2008.
[PubMed: 18203154]
[Full Text: https://doi.org/10.1002/ajmg.a.32168]
</p>
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<li>
<p class="mim-text-font">
Baird, P. N., Santos, A., Groves, N., Jadresic, L., Cowell, J. K.
<strong>Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome.</strong>
Hum. Molec. Genet. 1: 301-305, 1992.
[PubMed: 1338906]
[Full Text: https://doi.org/10.1093/hmg/1.5.301]
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<li>
<p class="mim-text-font">
Barakat, A. Y., Papadopoulou, Z. L., Chandra, R. S., Hollerman, C. E., Calcagno, P. L.
<strong>Pseudohermaphroditism, nephron disorder and Wilms&#x27; tumor: a unifying concept.</strong>
Pediatrics 54: 366-369, 1974.
[PubMed: 4153449]
</p>
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<li>
<p class="mim-text-font">
Dao, D. D., Schroeder, W. T., Chao, L.-Y., Kikuchi, H., Strong, L. C., Riccardi, V. M., Pathak, S., Nichols, W. W., Lewis, W. H., Saunders, G. F.
<strong>Genetic mechanisms of tumor-specific loss of 11p DNA sequences in Wilms tumor.</strong>
Am. J. Hum. Genet. 41: 202-217, 1987.
[PubMed: 3039839]
</p>
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<li>
<p class="mim-text-font">
Denys, P., Malvaux, P., van den Berghe, H., Tanghe, W., Proesmans, W.
<strong>Association d&#x27;un syndrome anatomo-pathologique de pseudohermaphrodisme masculin, d&#x27;une tumeur de Wilms, d&#x27;une nephropathie parenchymateuse et d&#x27;un mosaicisme XX/XY.</strong>
Arch. Franc. Pediat. 24: 729-739, 1967.
[PubMed: 4292870]
</p>
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<li>
<p class="mim-text-font">
Devriendt, K., Deloof, E., Moerman, P., Legius, E., Vanhole, C., de Zegher, F., Proesmans, W., Devlieger, H.
<strong>Diaphragmatic hernia in Denys-Drash syndrome.</strong>
Am. J. Med. Genet. 57: 97-101, 1995.
[PubMed: 7645607]
[Full Text: https://doi.org/10.1002/ajmg.1320570120]
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<li>
<p class="mim-text-font">
Drash, A., Sherman, F., Hartmann, W. H., Blizzard, R. M.
<strong>A syndrome of pseudohermaphroditism, Wilms&#x27; tumor, hypertension, and degenerative renal disease.</strong>
J. Pediat. 76: 585-593, 1970.
[PubMed: 4316066]
[Full Text: https://doi.org/10.1016/s0022-3476(70)80409-7]
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<p class="mim-text-font">
Friedman, A. L., Finlay, J. L.
<strong>The Drash syndrome revisited: diagnosis and follow-up.</strong>
Am. J. Med. Genet. Suppl. 3: 293-296, 1987.
[PubMed: 2835969]
[Full Text: https://doi.org/10.1002/ajmg.1320280534]
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<li>
<p class="mim-text-font">
Garfunkel, J. M.
<strong>Comment.</strong>
J. Pediat. 107: 998 only, 1985.
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<li>
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Habib, R., Loirat, C., Gubler, M. C., Niaudet, P., Bensman, A., Levy, M., Broyer, M.
<strong>The nephropathy associated with male pseudohermaphroditism and Wilms&#x27; tumor (Drash syndrome): a distinctive glomerular lesion--report of 10 cases.</strong>
Clin. Nephrol. 24: 269-278, 1985.
[PubMed: 3000666]
</p>
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<li>
<p class="mim-text-font">
Hastie, N. D.
<strong>Dominant negative mutations in the Wilms tumour (WT1) gene cause Denys-Drash syndrome--proof that a tumour-suppressor gene plays a crucial role in normal genitourinary development.</strong>
Hum. Molec. Genet. 1: 293-295, 1992.
[PubMed: 1338905]
[Full Text: https://doi.org/10.1093/hmg/1.5.293]
</p>
</li>
<li>
<p class="mim-text-font">
Jadresic, L., Leake, J., Gordon, I., Dillon, M. J., Grant, D. B., Pritchard, J., Risdon, R. A., Barratt, T. M.
<strong>Clinicopathologic review of twelve children with nephropathy, Wilms tumor, and genital abnormalities (Drash syndrome).</strong>
J. Pediat. 117: 717-725, 1990.
[PubMed: 2172500]
[Full Text: https://doi.org/10.1016/s0022-3476(05)83327-x]
</p>
</li>
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<p class="mim-text-font">
Jadresic, L., Wadey, R. B., Buckle, B., Barratt, T. M., Mitchell, C. D., Cowell, J. K.
<strong>Molecular analysis of chromosome region 11p13 in patients with Drash syndrome.</strong>
Hum. Genet. 86: 497-501, 1991.
[PubMed: 1849870]
[Full Text: https://doi.org/10.1007/BF00194641]
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Moorthy, A. V., Chesney, R. W., Lubinsky, M.
<strong>Chronic renal failure and XY gonadal dysgenesis: &#x27;Frasier&#x27; syndrome--a commentary on reported cases.</strong>
Am. J. Med. Genet. Suppl. 3: 297-302, 1987.
[PubMed: 3130865]
[Full Text: https://doi.org/10.1002/ajmg.1320280535]
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Mueller, R. F.
<strong>The Denys-Drash syndrome.</strong>
J. Med. Genet. 31: 471-477, 1994.
[PubMed: 8071974]
[Full Text: https://doi.org/10.1136/jmg.31.6.471]
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Patek, C. E., Fleming, S., Miles, C. G., Bellamy, C. O., Ladomery, M., Spraggon, L., Mullins, J., Hastie, N. D., Hooper, M. L.
<strong>Murine Denys-Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis.</strong>
Hum. Molec. Genet. 12: 2379-2394, 2003.
[PubMed: 12915483]
[Full Text: https://doi.org/10.1093/hmg/ddg240]
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Patek, C. E., Little, M. H., Fleming, S., Miles, C., Charlieu, J.-P., Clarke, A. R., Miyagawa, K., Christie, S., Doig, J., Harrison, D. J., Porteous, D. J., Brookes, A. J., Hooper, M. L., Hastie, N. D.
<strong>A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome.</strong>
Proc. Nat. Acad. Sci. 96: 2931-2936, 1999.
[PubMed: 10077614]
[Full Text: https://doi.org/10.1073/pnas.96.6.2931]
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Pelletier, J., Bruening, W., Kashtan, C. E., Mauer, S. M., Manivel, J. C., Striegel, J. E., Houghton, D. C., Junien, C., Habib, R., Fouser, L., Fine, R. N., Silverman, B. L., Haber, D. A., Housman, D.
<strong>Germline mutations in the Wilms&#x27; tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.</strong>
Cell 67: 437-447, 1991.
[PubMed: 1655284]
[Full Text: https://doi.org/10.1016/0092-8674(91)90194-4]
</p>
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Ratelade, J., Arrondel, C., Hamard, G., Garbay, S., Harvey, S., Biebuyck, N., Schulz, H., Hastie, N., Pontoglio, M., Gubler, M.-C., Antignac, C., Heidet, L.
<strong>A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes.</strong>
Hum. Molec. Genet. 19: 1-15, 2010.
[PubMed: 19797313]
[Full Text: https://doi.org/10.1093/hmg/ddp462]
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Schumacher, V., Scharer, K., Wuhl, E., Altrogge, H., Bonzel, K.-E., Guschmann, M., Neuhaus, T. J., Pollastro, R. M., Kuwertz-Broking, E., Bulla, M., Tondera, A.-M., Mundel, P., Helmchen, U., Waldherr, R., Weirich, A., Royer-Pokora, B.
<strong>Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations.</strong>
Kidney Int. 53: 1594-1600, 1998.
[PubMed: 9607189]
[Full Text: https://doi.org/10.1046/j.1523-1755.1998.00948.x]
</p>
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<li>
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Turleau, C., Niaudet, P., Sultan, C., Rault, G., Mahfoud, A., Nihoul-Fekete, C., Iris, L., de Grouchy, J.
<strong>Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome.</strong>
Hum. Genet. 75: 81-83, 1987.
[PubMed: 3026952]
[Full Text: https://doi.org/10.1007/BF00273847]
</p>
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