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Entry
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- #136680 - FRASIER SYNDROME
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- OMIM
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<p>
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<span class="h4">#136680</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/136680"><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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<li role="presentation" style="margin-left: 1em">
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=FRASIER SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3616&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>
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<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><a href="https://www.diseaseinfosearch.org/x/2919" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/frasier-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=136680[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=347" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/0465f420-c467-412a-acd8-8b6876026544/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050438" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/136680" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 445431000<br />
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<strong>ORPHA:</strong> 347<br />
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<strong>DO:</strong> 0050438<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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136680
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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FRASIER SYNDROME
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/11/284?start=-3&limit=10&highlight=284">
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11p13
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Frasier syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/136680"> 136680 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Somatic mutation">SMu</abbr>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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WT1
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607102"> 607102 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/136680" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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<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/136680" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/136680" 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>
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<div>
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
|
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|
|
- 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 />
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</span>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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|
|
<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 />
|
|
|
|
</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">
|
|
|
|
- Pure gonadal dysgenesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95219002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95219002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q99.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q99.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0687149&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0687149</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 /> -
|
|
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">
|
|
|
|
- Pure gonadal dysgenesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95219002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95219002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q99.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q99.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0687149&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0687149</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 /> -
|
|
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">
|
|
|
|
- Chronic renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90688005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90688005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46177005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46177005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/433146000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">433146000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/709044004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">709044004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/585" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/585.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585.6</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/585.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1561643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1561643</a>, <a href="https://bioportal.bioontology.org/search?q=C0022661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022661</a>, <a href="https://bioportal.bioontology.org/search?q=C2316810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2316810</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012622</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</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 /> -
|
|
Focal and segmental glomerular sclerosis <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 />
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|
|
</span>
|
|
</div>
|
|
</div>
|
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</div>
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|
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
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- Phenotypic overlap with Denys-Drash syndrome (<a href="/entry/194080">194080</a>).<br />
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- Caused by mutation in the WT1 transcription factor gene (WT1, <a href="/entry/607102#0018">607102.0018</a>)<br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because of evidence that Frasier syndrome is caused by heterozygous mutation in the WT1 gene (<a href="/entry/607102">607102</a>) on chromosome 11p13.</p>
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<p>Frasier syndrome is a rare disorder defined by pseudohermaphroditism and progressive glomerulopathy (<a href="#5" class="mim-tip-reference" title="Frasier, S. D., Bashore, R. A., Mosier, H. D. <strong>Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins.</strong> J. Pediat. 64: 740-745, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14149008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14149008</a>] [<a href="https://doi.org/10.1016/s0022-3476(64)80622-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14149008">Frasier et al., 1964</a>; <a href="#6" class="mim-tip-reference" title="Haning, R. V., Jr., Chesney, R. W., Moorthy, A. V., Gilbert, E. F. <strong>A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity.</strong> Am. J. Kidney Dis. 6: 40-48, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3895900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3895900</a>] [<a href="https://doi.org/10.1016/s0272-6386(85)80036-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3895900">Haning et al., 1985</a>; <a href="#7" class="mim-tip-reference" title="Kinberg, J. A., Angle, C. R., Wilson, R. B. <strong>Nephropathy-gonadal dysgenesis, type 2: renal failure in three siblings with XY dysgenesis in one.</strong> Am. J. Kidney Dis. 9: 507-510, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3591796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3591796</a>] [<a href="https://doi.org/10.1016/s0272-6386(87)80078-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3591796">Kinberg et al., 1987</a>). Patients present with normal female external genitalia, streak gonads, and XY karyotype, and frequently develop gonadoblastoma (<a href="#3" class="mim-tip-reference" title="Blanchet, P., Daloze, P., Lesage, R., Papas, S., van Campenhout, J. <strong>XY gonadal dysgenesis with gonadoblastoma discovered after kidney transplantation.</strong> Am. J. Obstet. Gynec. 129: 221-222, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/331956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">331956</a>] [<a href="https://doi.org/10.1016/0002-9378(77)90751-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="331956">Blanchet et al., 1977</a>). Glomerular symptoms consist of childhood proteinuria and nephrotic syndrome, characterized by nonspecific focal and segmental glomerular sclerosis, progressing to end-stage renal failure in adolescence or early adulthood. Wilms tumor is not a usual feature (<a href="#1" class="mim-tip-reference" title="Barbaux, S., Niaudet, P., Gubler, M.-C., Grunfeld, J.-P., Jaubert, F., Kuttenn, F., Fekete, C. N., Souleyreau-Therville, N., Thibaud, E., Fellous, M., McElreavey, K. <strong>Donor splice-site mutations in WT1 are responsible for Frasier syndrome.</strong> Nature Genet. 17: 467-470, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9398852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9398852</a>] [<a href="https://doi.org/10.1038/ng1297-467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9398852">Barbaux et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=331956+3895900+3591796+9398852+14149008" 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="#10" class="mim-tip-reference" title="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://doi.org/10.1002/ajmg.1320280535" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3130865">Moorthy et al. (1987)</a> suggested that some of the patients reported as cases of Denys-Drash syndrome (<a href="/entry/194080">194080</a>) in fact had a different disorder for which they suggested the designation Frasier syndrome (<a href="#5" class="mim-tip-reference" title="Frasier, S. D., Bashore, R. A., Mosier, H. D. <strong>Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins.</strong> J. Pediat. 64: 740-745, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14149008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14149008</a>] [<a href="https://doi.org/10.1016/s0022-3476(64)80622-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14149008">Frasier et al., 1964</a>). <a href="#10" class="mim-tip-reference" title="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://doi.org/10.1002/ajmg.1320280535" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" 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 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/?term=14149008+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="#1" class="mim-tip-reference" title="Barbaux, S., Niaudet, P., Gubler, M.-C., Grunfeld, J.-P., Jaubert, F., Kuttenn, F., Fekete, C. N., Souleyreau-Therville, N., Thibaud, E., Fellous, M., McElreavey, K. <strong>Donor splice-site mutations in WT1 are responsible for Frasier syndrome.</strong> Nature Genet. 17: 467-470, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9398852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9398852</a>] [<a href="https://doi.org/10.1038/ng1297-467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9398852">Barbaux et al. (1997)</a> described 3 unrelated patients with Frasier syndrome. All 3 presented with persistent proteinuria between the ages of 2 and 6 years and subsequently developed nephrotic syndrome that progressed to end-stage renal failure between 9 and 35 years of age. Renal biopsies performed before the onset of renal insufficiency showed minimal nonspecific glomerular changes in 1 patient and focal and segmental glomerular sclerosis in the other 2 patients. All 3 patients underwent successful kidney transplantation without recurrence of the nephrotic syndrome. Evaluation of primary amenorrhea in these 3 females with normal female phenotype led to a diagnosis of 46,XY gonadal dysgenesis. One of the 3 patients developed gonadoblastoma, which was diagnosed when she was 19; no recurrence was observed after surgical treatment. The other 2 patients underwent bilateral surgical gonadectomy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9398852" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Melo, K. F. S., Martin, R. M., Costa, E. M. F., Carvalho, F. M., Jorge, A. A., Arnhold, I. J. P., Mendonca, B. B. <strong>An unusual phenotype of Frasier syndrome due to IVS9 +4C-T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.</strong> J. Clin. Endocr. Metab. 87: 2500-2505, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12050205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12050205</a>] [<a href="https://doi.org/10.1210/jcem.87.6.8521" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12050205">Melo et al. (2002)</a> reported a patient diagnosed with Frasier syndrome who had the external genitalia characteristic of Denys-Drash syndrome. They suggested that these 2 syndromes are not distinct diseases but may represent 2 ends of a spectrum of disorders caused by alterations in the WT1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12050205" 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>Because mutations in exons 8 or 9 of the WT1 gene had been identified in 10 unrelated patients with Denys-Drash syndrome by <a href="#11" 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. <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://doi.org/10.1016/0092-8674(91)90194-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1655284">Pelletier et al. (1991)</a>, <a href="#12" class="mim-tip-reference" title="Poulat, F., Morin, D., Konig, A., Brun, P., Giltay, J., Sultan, C., Dumas, R., Gessler, M., Berta, P. <strong>Distinct molecular origins for Denys-Drash and Frasier syndromes.</strong> Hum. Genet. 91: 285-286, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8386697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8386697</a>] [<a href="https://doi.org/10.1007/BF00218274" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8386697">Poulat et al. (1993)</a> screened exons 1 through 10 of WT1 in patients with Frasier syndrome, but identified no mutations. Because they screened for mutations with single-strand conformation polymorphism (SSCP) analysis, a method that detects only an estimated 80% of point mutations, the possibility of mutations elsewhere in the gene was not completely excluded. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1655284+8386697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Berta, P., Morin, D., Poulat, F., Taviaux, S., Lobaccaro, J. M., Sultan, C., Dumas, R. <strong>Molecular analysis of the sex-determining region from the Y chromosome in two patients with Frasier syndrome.</strong> Horm. Res. 37: 103-106, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1478624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1478624</a>] [<a href="https://doi.org/10.1159/000182291" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1478624">Berta et al. (1992)</a> found no large deletion in the sex-determining region of the Y chromosome or mutations in the SRY gene (<a href="/entry/480000">480000</a>) in 2 girls with XY gonadal dysgenesis and chronic renal failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1478624" 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 3 patients with Frasier syndrome, <a href="#1" class="mim-tip-reference" title="Barbaux, S., Niaudet, P., Gubler, M.-C., Grunfeld, J.-P., Jaubert, F., Kuttenn, F., Fekete, C. N., Souleyreau-Therville, N., Thibaud, E., Fellous, M., McElreavey, K. <strong>Donor splice-site mutations in WT1 are responsible for Frasier syndrome.</strong> Nature Genet. 17: 467-470, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9398852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9398852</a>] [<a href="https://doi.org/10.1038/ng1297-467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9398852">Barbaux et al. (1997)</a> identified mutations in the donor splice site of intron 9 of the WT1 gene (<a href="/entry/607102#0018">607102.0018</a>; <a href="/entry/607102#0019">607102.0019</a>) with a predicted loss of the so-called +KTS isoform. Normally, an alternative splice site in intron 9 allows the addition of 3 amino acids (KTS) between the third and fourth zinc fingers of the WT1 protein. All 3 patients had male pseudohermaphroditism, nephrotic syndrome progressing to end-stage renal failure, and 46,XY gonadal dysgenesis. Renal biopsies performed before the onset of renal insufficiency showed minimal nonspecific glomerular changes in 1 patient and focal and segmental glomerular sclerosis in the other 2 patients. In 1 patient, gonadoblastoma was diagnosed at the age of 19. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9398852" 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="Barbaux, S., Niaudet, P., Gubler, M.-C., Grunfeld, J.-P., Jaubert, F., Kuttenn, F., Fekete, C. N., Souleyreau-Therville, N., Thibaud, E., Fellous, M., McElreavey, K. <strong>Donor splice-site mutations in WT1 are responsible for Frasier syndrome.</strong> Nature Genet. 17: 467-470, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9398852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9398852</a>] [<a href="https://doi.org/10.1038/ng1297-467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9398852">Barbaux et al. (1997)</a> suggested that the patient reported as having Denys-Drash syndrome and a mutation in intron 5 of the WT1 gene (<a href="/entry/607102#0009">607102.0009</a>) in fact had Frasier syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9398852" 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="Klamt, B., Koziell, A., Poulat, F., Wieacker, P., Scambler, P., Berta, P., Gessler, M. <strong>Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.</strong> Hum. Molec. Genet. 7: 709-714, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9499425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9499425</a>] [<a href="https://doi.org/10.1093/hmg/7.4.709" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9499425">Klamt et al. (1998)</a> showed that no mutant protein is produced by the mutations in WT1 causing Frasier syndrome. Instead, the mutation results in an altered ratio of the 2 splice isoforms of the protein, those with and those without the extra 3 amino acids (KTS). In the Denys-Drash syndrome, the tumor risk is much greater than in Frasier syndrome. The dominant-negative mutant allele is defective and loss of the second allele (according to the 2-hit model) may be an important step in tumor formation. In contrast, Frasier patients have 1 normal copy of WT1 and 1 that can only produce a shorter isoform. Allele loss would thus lead to cells that cannot produce the +KTS isoform of WT1, but still have large amounts of the -KTS isoform. In this respect, it is interesting to note that tumorigenicity of the G401 Wilms tumor cell line in nude mice can be suppressed to the same extent by +KTS and -KTS isoforms. Gonadoblastoma is frequent in Frasier patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9499425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Melo, K. F. S., Martin, R. M., Costa, E. M. F., Carvalho, F. M., Jorge, A. A., Arnhold, I. J. P., Mendonca, B. B. <strong>An unusual phenotype of Frasier syndrome due to IVS9 +4C-T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.</strong> J. Clin. Endocr. Metab. 87: 2500-2505, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12050205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12050205</a>] [<a href="https://doi.org/10.1210/jcem.87.6.8521" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12050205">Melo et al. (2002)</a> reported a 19-year-old male with Frasier syndrome who had the IVS9+4C-T mutation (<a href="/entry/607102#0018">607102.0018</a>), which predicts a change in splice site utilization. He had an unusual phenotype. WT1 transcript analysis showed reversal of the normal positive/negative KTS isoform ratio, confirming the diagnosis of FS. The authors concluded that this patient had the external genitalia characteristic of Denys-Drash syndrome, suggesting that these 2 syndromes are not distinct diseases but may represent 2 ends of a spectrum of disorders caused by alterations in the WT1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12050205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using immunofluorescence analysis, <a href="#4" class="mim-tip-reference" title="Bradford, S. T., Wilhelm, D., Bandiera, R., Vidal, V., Schedl, A., Koopman, P. <strong>A cell-autonomous role for WT1 in regulating Sry in vivo.</strong> Hum. Molec. Genet. 18: 3429-3438, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19549635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19549635</a>] [<a href="https://doi.org/10.1093/hmg/ddp283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19549635">Bradford et al. (2009)</a> found a significantly lower level of Sry (<a href="/entry/480000">480000</a>) protein per cell in XY Wt1(+KTS)-null mouse gonads. There were also a reduced number of Sry-expressing cells, correlating with a decrease in cell proliferation at and near the coelomic epithelium at 11.5 days postcoitum. No reduction in somatic cell numbers was seen in XX Wt1(+KTS)-null gonads, indicating that the effect of Wt1 on cell proliferation was mediated by Sry. Sertoli cell differentiation was blocked in XY Wt1(+KTS)-null mouse gonads, as indicated by the loss of Sox9 (<a href="/entry/608160">608160</a>) and Fgf9 (<a href="/entry/600921">600921</a>) expression, but the addition of recombinant Fgf9 to ex vivo gonad cultures rescued the mutant phenotype, as indicated by the induction of the Sertoli cell-specific marker anti-Mullerian hormone (AMH; <a href="/entry/600957">600957</a>). The authors suggested that WT1(+KTS) may be involved in the cell-autonomous regulation of SRY expression, which in turn influences cell proliferation and Sertoli cell differentiation via FGF9. Thus, sex reversal in Wt1(+KTS)-null mice and Frasier syndrome patients may result from a failure of Sertoli cells both to fully differentiate and to reach sufficient numbers to direct testis development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19549635" 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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Barbaux, S., Niaudet, P., Gubler, M.-C., Grunfeld, J.-P., Jaubert, F., Kuttenn, F., Fekete, C. N., Souleyreau-Therville, N., Thibaud, E., Fellous, M., McElreavey, K.
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<strong>Donor splice-site mutations in WT1 are responsible for Frasier syndrome.</strong>
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Nature Genet. 17: 467-470, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9398852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9398852</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9398852" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1297-467" target="_blank">Full Text</a>]
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Berta, P., Morin, D., Poulat, F., Taviaux, S., Lobaccaro, J. M., Sultan, C., Dumas, R.
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<strong>Molecular analysis of the sex-determining region from the Y chromosome in two patients with Frasier syndrome.</strong>
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Horm. Res. 37: 103-106, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1478624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1478624</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1478624" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000182291" target="_blank">Full Text</a>]
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Blanchet, P., Daloze, P., Lesage, R., Papas, S., van Campenhout, J.
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<strong>XY gonadal dysgenesis with gonadoblastoma discovered after kidney transplantation.</strong>
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Am. J. Obstet. Gynec. 129: 221-222, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/331956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">331956</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=331956" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0002-9378(77)90751-7" target="_blank">Full Text</a>]
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Bradford, S. T., Wilhelm, D., Bandiera, R., Vidal, V., Schedl, A., Koopman, P.
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<strong>A cell-autonomous role for WT1 in regulating Sry in vivo.</strong>
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Hum. Molec. Genet. 18: 3429-3438, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19549635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19549635</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19549635" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Frasier, S. D., Bashore, R. A., Mosier, H. D.
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<strong>Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins.</strong>
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J. Pediat. 64: 740-745, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14149008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14149008</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14149008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(64)80622-3" target="_blank">Full Text</a>]
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Haning, R. V., Jr., Chesney, R. W., Moorthy, A. V., Gilbert, E. F.
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<strong>A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity.</strong>
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Am. J. Kidney Dis. 6: 40-48, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3895900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3895900</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3895900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0272-6386(85)80036-6" target="_blank">Full Text</a>]
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Kinberg, J. A., Angle, C. R., Wilson, R. B.
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<strong>Nephropathy-gonadal dysgenesis, type 2: renal failure in three siblings with XY dysgenesis in one.</strong>
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Am. J. Kidney Dis. 9: 507-510, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3591796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3591796</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3591796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0272-6386(87)80078-1" target="_blank">Full Text</a>]
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Klamt, B., Koziell, A., Poulat, F., Wieacker, P., Scambler, P., Berta, P., Gessler, M.
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<strong>Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.</strong>
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Hum. Molec. Genet. 7: 709-714, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9499425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9499425</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9499425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/7.4.709" target="_blank">Full Text</a>]
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Melo, K. F. S., Martin, R. M., Costa, E. M. F., Carvalho, F. M., Jorge, A. A., Arnhold, I. J. P., Mendonca, B. B.
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<strong>An unusual phenotype of Frasier syndrome due to IVS9 +4C-T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.</strong>
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J. Clin. Endocr. Metab. 87: 2500-2505, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12050205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12050205</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12050205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jcem.87.6.8521" target="_blank">Full Text</a>]
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Moorthy, A. V., Chesney, R. W., Lubinsky, M.
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<strong>Chronic renal failure and XY gonadal dysgenesis: 'Frasier' syndrome--a commentary on reported cases.</strong>
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Am. J. Med. Genet. Suppl. 3: 297-302, 1987.
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[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>]
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[<a href="https://doi.org/10.1002/ajmg.1320280535" target="_blank">Full Text</a>]
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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.
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<strong>Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.</strong>
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Cell 67: 437-447, 1991.
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[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>]
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[<a href="https://doi.org/10.1016/0092-8674(91)90194-4" target="_blank">Full Text</a>]
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Poulat, F., Morin, D., Konig, A., Brun, P., Giltay, J., Sultan, C., Dumas, R., Gessler, M., Berta, P.
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<strong>Distinct molecular origins for Denys-Drash and Frasier syndromes.</strong>
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Hum. Genet. 91: 285-286, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8386697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8386697</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8386697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00218274" target="_blank">Full Text</a>]
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George E. Tiller - updated : 7/7/2010
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Marla J. F. O'Neill - updated : 1/29/2007<br>Victor A. McKusick - updated : 4/20/1998<br>Victor A. McKusick - updated : 12/2/1997
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Victor A. McKusick : 6/25/1993
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carol : 04/06/2016
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carol : 1/13/2016<br>alopez : 7/21/2010<br>terry : 7/7/2010<br>terry : 7/22/2009<br>carol : 7/21/2009<br>carol : 1/29/2007<br>ckniffin : 8/26/2002<br>carol : 5/6/1998<br>terry : 4/20/1998<br>jenny : 12/2/1997<br>terry : 11/26/1997<br>terry : 6/5/1997<br>terry : 6/2/1997<br>mimadm : 9/24/1994<br>carol : 5/2/1994<br>terry : 4/27/1994<br>carol : 7/6/1993<br>carol : 6/25/1993
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<strong>SNOMEDCT:</strong> 445431000;
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<strong>ORPHA:</strong> 347;
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<strong>DO:</strong> 0050438;
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11p13
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Frasier syndrome
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136680
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Autosomal dominant; Somatic mutation
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WT1
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607102
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<p>A number sign (#) is used with this entry because of evidence that Frasier syndrome is caused by heterozygous mutation in the WT1 gene (607102) on chromosome 11p13.</p>
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<p>Frasier syndrome is a rare disorder defined by pseudohermaphroditism and progressive glomerulopathy (Frasier et al., 1964; Haning et al., 1985; Kinberg et al., 1987). Patients present with normal female external genitalia, streak gonads, and XY karyotype, and frequently develop gonadoblastoma (Blanchet et al., 1977). Glomerular symptoms consist of childhood proteinuria and nephrotic syndrome, characterized by nonspecific focal and segmental glomerular sclerosis, progressing to end-stage renal failure in adolescence or early adulthood. Wilms tumor is not a usual feature (Barbaux et al., 1997). </p>
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<p>Moorthy et al. (1987) suggested that some of the patients reported as cases of Denys-Drash syndrome (194080) in fact had a different disorder for which they suggested the designation Frasier syndrome (Frasier et al., 1964). 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 successful kidney transplantation during evaluation for primary amenorrhea. Gonadoblastoma arising from the streak gonad was noted in 5 of the 6 patients. </p><p>Barbaux et al. (1997) described 3 unrelated patients with Frasier syndrome. All 3 presented with persistent proteinuria between the ages of 2 and 6 years and subsequently developed nephrotic syndrome that progressed to end-stage renal failure between 9 and 35 years of age. Renal biopsies performed before the onset of renal insufficiency showed minimal nonspecific glomerular changes in 1 patient and focal and segmental glomerular sclerosis in the other 2 patients. All 3 patients underwent successful kidney transplantation without recurrence of the nephrotic syndrome. Evaluation of primary amenorrhea in these 3 females with normal female phenotype led to a diagnosis of 46,XY gonadal dysgenesis. One of the 3 patients developed gonadoblastoma, which was diagnosed when she was 19; no recurrence was observed after surgical treatment. The other 2 patients underwent bilateral surgical gonadectomy. </p><p>Melo et al. (2002) reported a patient diagnosed with Frasier syndrome who had the external genitalia characteristic of Denys-Drash syndrome. They suggested that these 2 syndromes are not distinct diseases but may represent 2 ends of a spectrum of disorders caused by alterations in the WT1 gene. </p>
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<strong>Molecular Genetics</strong>
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<p>Because mutations in exons 8 or 9 of the WT1 gene had been identified in 10 unrelated patients with Denys-Drash syndrome by Pelletier et al. (1991), Poulat et al. (1993) screened exons 1 through 10 of WT1 in patients with Frasier syndrome, but identified no mutations. Because they screened for mutations with single-strand conformation polymorphism (SSCP) analysis, a method that detects only an estimated 80% of point mutations, the possibility of mutations elsewhere in the gene was not completely excluded. </p><p>Berta et al. (1992) found no large deletion in the sex-determining region of the Y chromosome or mutations in the SRY gene (480000) in 2 girls with XY gonadal dysgenesis and chronic renal failure. </p><p>In 3 patients with Frasier syndrome, Barbaux et al. (1997) identified mutations in the donor splice site of intron 9 of the WT1 gene (607102.0018; 607102.0019) with a predicted loss of the so-called +KTS isoform. Normally, an alternative splice site in intron 9 allows the addition of 3 amino acids (KTS) between the third and fourth zinc fingers of the WT1 protein. All 3 patients had male pseudohermaphroditism, nephrotic syndrome progressing to end-stage renal failure, and 46,XY gonadal dysgenesis. Renal biopsies performed before the onset of renal insufficiency showed minimal nonspecific glomerular changes in 1 patient and focal and segmental glomerular sclerosis in the other 2 patients. In 1 patient, gonadoblastoma was diagnosed at the age of 19. </p><p>Barbaux et al. (1997) suggested that the patient reported as having Denys-Drash syndrome and a mutation in intron 5 of the WT1 gene (607102.0009) in fact had Frasier syndrome. </p><p>Klamt et al. (1998) showed that no mutant protein is produced by the mutations in WT1 causing Frasier syndrome. Instead, the mutation results in an altered ratio of the 2 splice isoforms of the protein, those with and those without the extra 3 amino acids (KTS). In the Denys-Drash syndrome, the tumor risk is much greater than in Frasier syndrome. The dominant-negative mutant allele is defective and loss of the second allele (according to the 2-hit model) may be an important step in tumor formation. In contrast, Frasier patients have 1 normal copy of WT1 and 1 that can only produce a shorter isoform. Allele loss would thus lead to cells that cannot produce the +KTS isoform of WT1, but still have large amounts of the -KTS isoform. In this respect, it is interesting to note that tumorigenicity of the G401 Wilms tumor cell line in nude mice can be suppressed to the same extent by +KTS and -KTS isoforms. Gonadoblastoma is frequent in Frasier patients. </p><p>Melo et al. (2002) reported a 19-year-old male with Frasier syndrome who had the IVS9+4C-T mutation (607102.0018), which predicts a change in splice site utilization. He had an unusual phenotype. WT1 transcript analysis showed reversal of the normal positive/negative KTS isoform ratio, confirming the diagnosis of FS. The authors concluded that this patient had the external genitalia characteristic of Denys-Drash syndrome, suggesting that these 2 syndromes are not distinct diseases but may represent 2 ends of a spectrum of disorders caused by alterations in the WT1 gene. </p>
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<strong>Animal Model</strong>
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<p>Using immunofluorescence analysis, Bradford et al. (2009) found a significantly lower level of Sry (480000) protein per cell in XY Wt1(+KTS)-null mouse gonads. There were also a reduced number of Sry-expressing cells, correlating with a decrease in cell proliferation at and near the coelomic epithelium at 11.5 days postcoitum. No reduction in somatic cell numbers was seen in XX Wt1(+KTS)-null gonads, indicating that the effect of Wt1 on cell proliferation was mediated by Sry. Sertoli cell differentiation was blocked in XY Wt1(+KTS)-null mouse gonads, as indicated by the loss of Sox9 (608160) and Fgf9 (600921) expression, but the addition of recombinant Fgf9 to ex vivo gonad cultures rescued the mutant phenotype, as indicated by the induction of the Sertoli cell-specific marker anti-Mullerian hormone (AMH; 600957). The authors suggested that WT1(+KTS) may be involved in the cell-autonomous regulation of SRY expression, which in turn influences cell proliferation and Sertoli cell differentiation via FGF9. Thus, sex reversal in Wt1(+KTS)-null mice and Frasier syndrome patients may result from a failure of Sertoli cells both to fully differentiate and to reach sufficient numbers to direct testis development. </p>
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<strong>REFERENCES</strong>
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Barbaux, S., Niaudet, P., Gubler, M.-C., Grunfeld, J.-P., Jaubert, F., Kuttenn, F., Fekete, C. N., Souleyreau-Therville, N., Thibaud, E., Fellous, M., McElreavey, K.
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<strong>Donor splice-site mutations in WT1 are responsible for Frasier syndrome.</strong>
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Nature Genet. 17: 467-470, 1997.
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[PubMed: 9398852]
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[Full Text: https://doi.org/10.1038/ng1297-467]
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Berta, P., Morin, D., Poulat, F., Taviaux, S., Lobaccaro, J. M., Sultan, C., Dumas, R.
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<strong>Molecular analysis of the sex-determining region from the Y chromosome in two patients with Frasier syndrome.</strong>
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Horm. Res. 37: 103-106, 1992.
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[PubMed: 1478624]
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[Full Text: https://doi.org/10.1159/000182291]
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<p class="mim-text-font">
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Blanchet, P., Daloze, P., Lesage, R., Papas, S., van Campenhout, J.
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<strong>XY gonadal dysgenesis with gonadoblastoma discovered after kidney transplantation.</strong>
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Am. J. Obstet. Gynec. 129: 221-222, 1977.
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[PubMed: 331956]
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[Full Text: https://doi.org/10.1016/0002-9378(77)90751-7]
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Bradford, S. T., Wilhelm, D., Bandiera, R., Vidal, V., Schedl, A., Koopman, P.
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<strong>A cell-autonomous role for WT1 in regulating Sry in vivo.</strong>
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Frasier, S. D., Bashore, R. A., Mosier, H. D.
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<strong>Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins.</strong>
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J. Pediat. 64: 740-745, 1964.
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[PubMed: 14149008]
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[Full Text: https://doi.org/10.1016/s0022-3476(64)80622-3]
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Haning, R. V., Jr., Chesney, R. W., Moorthy, A. V., Gilbert, E. F.
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<strong>A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity.</strong>
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Am. J. Kidney Dis. 6: 40-48, 1985.
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[PubMed: 3895900]
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[Full Text: https://doi.org/10.1016/s0272-6386(85)80036-6]
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Kinberg, J. A., Angle, C. R., Wilson, R. B.
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<strong>Nephropathy-gonadal dysgenesis, type 2: renal failure in three siblings with XY dysgenesis in one.</strong>
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Am. J. Kidney Dis. 9: 507-510, 1987.
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[PubMed: 3591796]
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[Full Text: https://doi.org/10.1016/s0272-6386(87)80078-1]
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Klamt, B., Koziell, A., Poulat, F., Wieacker, P., Scambler, P., Berta, P., Gessler, M.
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<strong>Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.</strong>
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Hum. Molec. Genet. 7: 709-714, 1998.
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[PubMed: 9499425]
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Melo, K. F. S., Martin, R. M., Costa, E. M. F., Carvalho, F. M., Jorge, A. A., Arnhold, I. J. P., Mendonca, B. B.
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<strong>An unusual phenotype of Frasier syndrome due to IVS9 +4C-T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.</strong>
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J. Clin. Endocr. Metab. 87: 2500-2505, 2002.
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[PubMed: 12050205]
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[Full Text: https://doi.org/10.1210/jcem.87.6.8521]
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Moorthy, A. V., Chesney, R. W., Lubinsky, M.
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<strong>Chronic renal failure and XY gonadal dysgenesis: 'Frasier' syndrome--a commentary on reported cases.</strong>
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[PubMed: 3130865]
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[Full Text: https://doi.org/10.1002/ajmg.1320280535]
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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.
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<strong>Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.</strong>
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Cell 67: 437-447, 1991.
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[PubMed: 1655284]
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[Full Text: https://doi.org/10.1016/0092-8674(91)90194-4]
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Poulat, F., Morin, D., Konig, A., Brun, P., Giltay, J., Sultan, C., Dumas, R., Gessler, M., Berta, P.
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<strong>Distinct molecular origins for Denys-Drash and Frasier syndromes.</strong>
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Hum. Genet. 91: 285-286, 1993.
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[PubMed: 8386697]
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[Full Text: https://doi.org/10.1007/BF00218274]
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George E. Tiller - updated : 7/7/2010<br>Marla J. F. O'Neill - updated : 1/29/2007<br>Victor A. McKusick - updated : 4/20/1998<br>Victor A. McKusick - updated : 12/2/1997
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Victor A. McKusick : 6/25/1993
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