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Entry
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- #194072 - WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; WAGR
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- OMIM
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<span class="h4">#194072</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="/clinicalSynopsis/194072"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#diagnosis">Diagnosis</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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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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><a href="https://clinicaltrials.gov/search?cond=WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT 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://decipher.sanger.ac.uk/syndrome/35" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=230&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/NBK1360/" 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/7605" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=194072[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=893" 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/2717cf2b-4eb6-44bc-8181-888be95d3a90/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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<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 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://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>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="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> 4135001, 715215007<br />
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<strong>ORPHA:</strong> 893<br />
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<strong>DO:</strong> 14515<br />
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">ICD+</a>
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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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194072
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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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WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; WAGR
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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="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME<br />
|
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WAGR SYNDROME<br />
|
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CHROMOSOME 11p13 DELETION SYNDROME
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/11/272?start=-3&limit=10&highlight=272">11p13</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:31000001-36400000&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">11:31,000,001-36,400,000</a> </span>
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</em>
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</strong>
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</span>
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</p>
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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="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
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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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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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<a href="/geneMap/11/272?start=-3&limit=10&highlight=272">
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11p13
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</a>
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</td>
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<td>
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<span class="mim-font">
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Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development 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/194072"> 194072 </a>
|
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|
|
</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="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved">4</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
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|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/194072" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
<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> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Weight </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Obesity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414915002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414915002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414916001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414916001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E66.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E66.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/278.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">278.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028754</a>, <a href="https://bioportal.bioontology.org/search?q=C4759928&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4759928</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001513" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001513</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001513" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001513</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Aniridia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69278003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69278003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.45" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.45</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003076&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003076</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000526" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000526</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000526" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000526</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">
|
|
|
|
- Hypospadias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204888000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204888000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416010008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416010008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0848558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0848558</a>, <a href="https://bioportal.bioontology.org/search?q=C1691215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1691215</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003244</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</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">
|
|
|
|
- Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</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">
|
|
|
|
- Uterine malformations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37849005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37849005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266383&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266383</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000130" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000130</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000130" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000130</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">
|
|
|
|
- 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 /> -
|
|
Renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">586</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
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- Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br />
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<strong> NEOPLASIA </strong>
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- 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 />
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<strong> MISCELLANEOUS </strong>
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- Contiguous gene syndrome <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855496&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855496</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001466" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001466</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001466" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001466</a>]</span><br />
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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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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- Caused by microdeletions of 11p13<br /> -
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Caused by mutations in the Wilms tumor 1 gene (WT1, <a href="/entry/607102#0001">607102.0001</a>).<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because the WAGR syndrome is a contiguous gene syndrome due to deletion, either microscopic or submicroscopic, at chromosome 11p13 in a region containing the WT1 (<a href="/entry/607102">607102</a>) and PAX6 (<a href="/entry/607108">607108</a>) genes.</p><p>A subphenotype of WAGR including obesity (WAGRO) has been associated with haploinsufficiency for the BDNF gene (<a href="/entry/113505">113505</a>) and is discussed in <a href="/entry/612469">612469</a>.</p>
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<strong>Clinical Features</strong>
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<p><a href="#12" class="mim-tip-reference" title="Miller, R. W., Fraumeni, J. F., Jr., Manning, M. D. <strong>Association of Wilms' tumor with aniridia, hemihypertrophy and other congenital malformations.</strong> New Eng. J. Med. 270: 922-927, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14114111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14114111</a>] [<a href="https://doi.org/10.1056/NEJM196404302701802" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14114111">Miller et al. (1964)</a> first described the association of aniridia, hemihypertrophy, and other congenital anomalies with Wilms tumor. The syndrome subsequently became known as the WAGR syndrome. In addition to 'genitourinary abnormalities,' the 'G' in WAGR syndrome may refer to 'ambiguous genitalia' (<a href="#16" class="mim-tip-reference" title="Riccardi, V. M., Sujansky, E., Smith, A. C., Francke, U. <strong>Chromosomal imbalance in the aniridia--Wilms' tumor association: 11p interstitial deletion.</strong> Pediatrics 61: 604-610, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/208044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">208044</a>]" pmid="208044">Riccardi et al., 1978</a>) or 'gonadoblastoma' (<a href="#1" class="mim-tip-reference" title="Anderson, S. R., Geertinger, P., Larsen, H.-W., Mikkelsen, M., Parving, A., Vestermark, S., Warburg, M. <strong>Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome 11: a clinicopathological case report.</strong> Ophthalmologica 176: 171-177, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/613291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">613291</a>] [<a href="https://doi.org/10.1159/000308711" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="613291">Anderson et al., 1978</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=613291+14114111+208044" 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="#16" class="mim-tip-reference" title="Riccardi, V. M., Sujansky, E., Smith, A. C., Francke, U. <strong>Chromosomal imbalance in the aniridia--Wilms' tumor association: 11p interstitial deletion.</strong> Pediatrics 61: 604-610, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/208044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">208044</a>]" pmid="208044">Riccardi et al. (1978)</a> observed a triad of aniridia, ambiguous genitalia, and mental retardation (AGR triad) in 3 patients with an interstitial deletion of the short arm of chromosome 11. One patient also had Wilms tumor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=208044" 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>Among 6 cases of aniridia, <a href="#5" class="mim-tip-reference" title="Francke, U., Riccardi, V. M., Hittner, H. M., Borges, W. <strong>Interstitial del(11p) as a cause of the aniridia-Wilms tumor association: band localization and a heritable basis. (Abstract)</strong> Am. J. Hum. Genet. 30: 81A, 1978."None>Francke et al. (1978)</a> showed that Wilms tumor was not present in all cases: monozygotic twins had aniridia and mental retardation, but only 1 had Wilms tumor, and only 1 of the other 4 patients had Wilms tumor. The deleted segment common to all was the distal half of 11p13.</p><p><a href="#1" class="mim-tip-reference" title="Anderson, S. R., Geertinger, P., Larsen, H.-W., Mikkelsen, M., Parving, A., Vestermark, S., Warburg, M. <strong>Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome 11: a clinicopathological case report.</strong> Ophthalmologica 176: 171-177, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/613291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">613291</a>] [<a href="https://doi.org/10.1159/000308711" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="613291">Anderson et al. (1978)</a> described aniridia, cataract, gonadoblastoma, and mental retardation in a girl with an interstitial deletion of the short arm of chromosome 11. Gonadoblastoma occurs as part of the WAGR complex (<a href="#8" class="mim-tip-reference" title="Junien, C., Turleau, C., de Grouchy, J., Said, R., Rethore, M.-O., Tenconi, R., Dufier, J. L. <strong>Regional assignment of catalase (CAT) gene to band 11p13: association with the aniridia-Wilms' tumor-gonadoblastoma (WAGR) complex.</strong> Ann. Genet. 23: 165-168, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6252821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6252821</a>]" pmid="6252821">Junien et al., 1980</a>; <a href="#18" class="mim-tip-reference" title="Turleau, C., de Grouchy, J., Dufier, J. L., Phuc, L. H., Schmelck, P. H., Rappaport, R., Nihoul-Fekete, C., Diebold, N. <strong>Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.</strong> Hum. Genet. 57: 300-306, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6114032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6114032</a>]" pmid="6114032">Turleau et al., 1981</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=613291+6114032+6252821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a report that focused on the aniridia component of the WAGR syndrome, <a href="#6" class="mim-tip-reference" title="Gilgenkrantz, S., Vigneron, C., Gregoire, M. J., Pernot, C., Raspiller, A. <strong>Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy.</strong> Am. J. Med. Genet. 13: 39-49, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6127950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6127950</a>] [<a href="https://doi.org/10.1002/ajmg.1320130108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6127950">Gilgenkrantz et al. (1982)</a> analyzed the reported cases of aniridia with interstitial del(11)p. They reported a unique observation of hypertrophic cardiomyopathy in association with aniridia and catalase (CAT; <a href="/entry/115500">115500</a>) deficiency in a patient with del(11)(p15.1p12). <a href="#15" class="mim-tip-reference" title="Riccardi, V. M., Hittner, H. M., Strong, L. C., Fernbach, D. J., Lebo, R., Ferrell, R. E. <strong>Wilms tumor with aniridia/iris dysplasia and apparently normal chromosomes.</strong> J. Pediat. 100: 574-577, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6278119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6278119</a>] [<a href="https://doi.org/10.1016/s0022-3476(82)80755-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6278119">Riccardi et al. (1982)</a> reported a patient with Wilms tumor and iris dysplasia, not aniridia. In the UK, <a href="#17" class="mim-tip-reference" title="Shannon, R. S., Mann, J. R., Harper, E., Harnden, D. G., Morten, J. E. N., Herbert, A. <strong>Wilms's tumour and aniridia: clinical and cytogenetic features.</strong> Arch. Dis. Child. 57: 685-690, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6289758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6289758</a>] [<a href="https://doi.org/10.1136/adc.57.9.685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6289758">Shannon et al. (1982)</a> found the incidence of aniridia in cases of Wilms tumor to be 1 in 43. A survey detected 8 living and 3 dead children with Wilms tumor and aniridia. All 8 living children had deletion of 11p13. A high incidence of bilateral Wilms tumor (36%), male sex, early presentation, and advanced maternal age were features of the combined cases. Among 49 children with Wilms tumor without aniridia, only 1 had bilateral renal tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6289758+6278119+6127950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using high resolution chromosome banding, <a href="#11" class="mim-tip-reference" title="Marshall, L. S., Qureshi, A. R., DiGeorge, A. M., Kistenmacher, M. L., Punnett, H. H. <strong>Aniridia and the 11p13 deletion. (Abstract)</strong> Am. J. Hum. Genet. 34: 74A, 1982."None>Marshall et al. (1982)</a> studied 14 patients with aniridia. Seven were familial and had normal chromosomes; of 7 sporadic cases, 1 showed normal chromosomes and 6 had interstitial deletion of 11p of various lengths. Band 11p13 was included in the deletion in all 6 cases.</p><p><a href="#10" class="mim-tip-reference" title="Little, M. H., Williamson, K. A., Mannens, M., Kelsey, A., Gosden, C., Hastie, N. D., van Heyningen, V. <strong>Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion.</strong> Hum. Molec. Genet. 2: 259-264, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8388765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8388765</a>] [<a href="https://doi.org/10.1093/hmg/2.3.259" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8388765">Little et al. (1993)</a> suggested that the severe nephropathy associated with Denys-Drash syndrome (<a href="/entry/194080">194080</a>), which frequently leads to early renal failure, may result from the action of altered WT1 in blocking the normal activity of the wildtype protein. In contrast, because of the less severe genital anomalies and apparent lack of nephropathy associated with WAGR, a reduced WT1 dosage during embryogenesis is thought to have a less pronounced effect on development, especially on that of the renal system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8388765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Breslow, N. E., Takashima, J. R., Ritchey, M. L., Strong, L. C., Green, D. M. <strong>Renal failure in the Denys-Drash and Wilms' tumor-aniridia syndromes.</strong> Cancer Res. 60: 4030-4032, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10945603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10945603</a>]" pmid="10945603">Breslow et al. (2000)</a> reviewed nearly 6,000 patients enrolled in 4 clinical trials of the U. S. National Wilms Tumor Study Group between 1969 and 1995 who were followed until death or for a median of 11.0 years of survival for the onset of renal failure. Of 22 patients with Denys-Drash syndrome, 13 developed renal failure; of 46 patients with WAGR, 10 developed renal failure. The cumulative risks of renal failure at 20 years were 62% and 38%, respectively. The findings suggested that nephropathy is not associated uniquely with missense mutations in the WT1 gene and that patients with Wilms tumor and aniridia or genitourinary abnormalities should be followed closely throughout life for signs of nephropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10945603" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>WAGR Syndrome with Atypical Eye Findings</em></strong></p><p>
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<a href="#9" class="mim-tip-reference" title="Kawase, E., Tanaka, K., Honna, T., Azuma, N. <strong>A case of atypical WAGR syndrome with anterior segment anomaly and microphthalmos.</strong> Arch. Ophthal. 119: 1855-1856, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11735802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11735802</a>]" pmid="11735802">Kawase et al. (2001)</a> reported a case of WAGR syndrome with atypical eye findings. The boy presented at 1 month of age with microphthalmos bilaterally, microcornea and corneal cyst in the right eye, and corneal opacity (consistent with Peters anomaly) and absent anterior chamber in the left eye. Electroretinogram was normal in the right eye and subnormal in the left eye, suggesting retinal dysfunction. The child was found to have bilateral Wilms tumors at age 3 years. He also had undescended testes and mental retardation. Chromosome analysis revealed deletion of chromosome 11p15.1-p13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11735802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#14" class="mim-tip-reference" title="Puissant, H., Azoulay, M., Serre, J.-L., Piet, L., Junien, C. <strong>Molecular analysis of a reciprocal translocation t(5;11)(q11;p13) in a WAGR patient.</strong> Hum. Genet. 79: 280-282, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2841227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2841227</a>] [<a href="https://doi.org/10.1007/BF00366252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2841227">Puissant et al. (1988)</a> reported a patient with WAGR and a de novo reciprocal translocation 46,XY,t(5;11)(q11;p13). On Southern blot analysis, the gene encoding catalase had been deleted, but the gene encoding the beta subunit of follicle-stimulating hormone (FSHB) was intact. Evidence from studies of balanced translocations and other observations had suggested that the genitourinary dysplasia, like aniridia, was due to a separate gene in close proximity to the WT1 gene in band 11p13 (<a href="#2" class="mim-tip-reference" title="Bickmore, W. A., Porteous, D. J., Christie, S., Seawright, A., Fletcher, J. M., Maule, J. C., Couillin, P., Junien, C., Hastie, N. D., van Heyningen, V. <strong>CpG islands surround a DNA segment located between translocation breakpoints associated with genitourinary dysplasia and aniridia.</strong> Genomics 5: 685-693, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2556343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2556343</a>] [<a href="https://doi.org/10.1016/0888-7543(89)90109-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2556343">Bickmore et al., 1989</a>; <a href="#7" class="mim-tip-reference" title="Glaser, T., Jones, C. A., Lewis, W. H., Call, K., Rose, E. A., Buckler, A., Ito, C., Housman, D. E. <strong>The ultrafine structure of the WAGR gene complex. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1005 only, 1989."None>Glaser et al., 1989</a>). By HRAS1-selected chromosome transfer, <a href="#13" class="mim-tip-reference" title="Porteous, D. J., Bickmore, W., Christie, S., Boyd, P. A., Cranston, G., Fletcher, J. M., Gosden, J. R., Rout, D., Seawright, A., Simola, K. O. J., van Heyningen, V., Hastie, N. D. <strong>HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13.</strong> Proc. Nat. Acad. Sci. 84: 5355-5359, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3037545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3037545</a>] [<a href="https://doi.org/10.1073/pnas.84.15.5355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3037545">Porteous et al. (1987)</a> defined 10 distinct regions of the short arm of chromosome 11, 5 of which subdivided band 11p13. They also mapped 2 independent 11p13 translocation breakpoints to within the smallest region of overlap defined by the WAGR deletions. One came from a patient with familial aniridia and the second from a patient with Potter facies and genitourinary dysplasia (urethral and ureteral atresia and bilateral cryptorchidism). <a href="#13" class="mim-tip-reference" title="Porteous, D. J., Bickmore, W., Christie, S., Boyd, P. A., Cranston, G., Fletcher, J. M., Gosden, J. R., Rout, D., Seawright, A., Simola, K. O. J., van Heyningen, V., Hastie, N. D. <strong>HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13.</strong> Proc. Nat. Acad. Sci. 84: 5355-5359, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3037545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3037545</a>] [<a href="https://doi.org/10.1073/pnas.84.15.5355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3037545">Porteous et al. (1987)</a> raised the question of whether Wilms tumor and genitourinary dysplasia are alternative manifestations of mutations at the same locus. A separate gene coding for genitourinary dysplasia (symbolized GUD) was also suggested by <a href="#3" class="mim-tip-reference" title="Bonetta, L., Huang, A., Gregoris, M., Yeger, H., Williams, B. R. G. <strong>Characterization of a homozygous deletion mapping to the Wilms tumor region on 11p13. (Abstract)</strong> Cytogenet. Cell Genet. 51: 965 only, 1989."None>Bonetta et al. (1989)</a>, who found that the deletion breakpoint of a translocation t(11;2)(p13;p11) in a patient with Potter facies and genitourinary dysplasia mapped to the same 225-kb pulsed field gel electrophoresis fragment as did the fragment deleted in Wilms tumor. However, <a href="#19" class="mim-tip-reference" title="van Heyningen, V., Bickmore, W. A., Seawright, A., Fletcher, J. M., Maule, J., Fekete, G., Gessler, M., Bruns, G. A. P., Huerre-Jeanpierre, C., Junien, C., Williams, B. R. G., Hastie, N. D. <strong>Role for the Wilms tumor gene in genital development?</strong> Proc. Nat. Acad. Sci. 87: 5383-5386, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1973540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1973540</a>] [<a href="https://doi.org/10.1073/pnas.87.14.5383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1973540">van Heyningen et al. (1990)</a> suggested that the Wilms tumor gene itself may be responsible for abnormalities of genitourinary development in WAGR as a pleiotropic effect. The suggestion was based on the observations that the tumor predisposition and the genitourinary malformations map to precisely the same area and that the WT candidate gene shows expression in both the developing kidney and gonads. That there is no GUD gene separate from the WT1 gene is supported by the fact that the Denys-Drash syndrome (nephropathy, Wilms tumor, and genital anomalies; <a href="/entry/194080">194080</a>) is caused by specific point mutations in the WT1 gene (e.g., <a href="/entry/607102#0003">607102.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2556343+1973540+2841227+3037545" 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>Apparent close linkage of the region determining the WAGR syndrome to the catalase locus (CAT; <a href="/entry/115500">115500</a>) means that assay of catalase activity could usefully indicate those cases of new-mutation aniridia that should have surveillance for the development of renal or gonadal tumors (<a href="#8" class="mim-tip-reference" title="Junien, C., Turleau, C., de Grouchy, J., Said, R., Rethore, M.-O., Tenconi, R., Dufier, J. L. <strong>Regional assignment of catalase (CAT) gene to band 11p13: association with the aniridia-Wilms' tumor-gonadoblastoma (WAGR) complex.</strong> Ann. Genet. 23: 165-168, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6252821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6252821</a>]" pmid="6252821">Junien et al., 1980</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6252821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In WAGR syndrome, aniridia is due to the PAX6 gene, whereas the other features are probably due to the WT1 gene.</p>
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<p>AGR syndrome is a subgroup of WAGR syndrome in which patients do not develop Wilms tumor and is associated with deletion of chromosome 11p14.1-p13, where the LGR4 gene (GPR48; <a href="/entry/606666">606666</a>) is located. <a href="#20" class="mim-tip-reference" title="Yi, T., Weng, J., Siwko, S., Luo, J., Li, D., Liu, M. <strong>LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects.</strong> J. Biol. Chem. 289: 8767-8780, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24519938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24519938</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24519938[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1074/jbc.M113.530816" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24519938">Yi et al. (2014)</a> found that mice lacking Lgr4 had aniridia, polycystic kidney disease, genitourinary abnormalities, and mental retardation, similar to the pathologic defects of AGR syndrome. Inactivation of Lgr4 significantly increased apoptosis and decreased expression of multiple genes involved in development of WAGR syndrome-related organs. <a href="#20" class="mim-tip-reference" title="Yi, T., Weng, J., Siwko, S., Luo, J., Li, D., Liu, M. <strong>LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects.</strong> J. Biol. Chem. 289: 8767-8780, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24519938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24519938</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24519938[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1074/jbc.M113.530816" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24519938">Yi et al. (2014)</a> proposed that LGR4 is a candidate gene for the pathogenesis of AGR syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24519938" 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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Anderson, S. R., Geertinger, P., Larsen, H.-W., Mikkelsen, M., Parving, A., Vestermark, S., Warburg, M.
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<strong>Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome 11: a clinicopathological case report.</strong>
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Ophthalmologica 176: 171-177, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/613291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">613291</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=613291" 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/10.1159/000308711" target="_blank">Full Text</a>]
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Bickmore, W. A., Porteous, D. J., Christie, S., Seawright, A., Fletcher, J. M., Maule, J. C., Couillin, P., Junien, C., Hastie, N. D., van Heyningen, V.
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<strong>CpG islands surround a DNA segment located between translocation breakpoints associated with genitourinary dysplasia and aniridia.</strong>
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Genomics 5: 685-693, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2556343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2556343</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2556343" 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/10.1016/0888-7543(89)90109-2" target="_blank">Full Text</a>]
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Bonetta, L., Huang, A., Gregoris, M., Yeger, H., Williams, B. R. G.
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<strong>Characterization of a homozygous deletion mapping to the Wilms tumor region on 11p13. (Abstract)</strong>
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Cytogenet. Cell Genet. 51: 965 only, 1989.
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Breslow, N. E., Takashima, J. R., Ritchey, M. L., Strong, L. C., Green, D. M.
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<strong>Renal failure in the Denys-Drash and Wilms' tumor-aniridia syndromes.</strong>
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Cancer Res. 60: 4030-4032, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10945603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10945603</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10945603" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Francke, U., Riccardi, V. M., Hittner, H. M., Borges, W.
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<strong>Interstitial del(11p) as a cause of the aniridia-Wilms tumor association: band localization and a heritable basis. (Abstract)</strong>
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Am. J. Hum. Genet. 30: 81A, 1978.
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Gilgenkrantz, S., Vigneron, C., Gregoire, M. J., Pernot, C., Raspiller, A.
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<strong>Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy.</strong>
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Am. J. Med. Genet. 13: 39-49, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6127950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6127950</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6127950" 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.1320130108" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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Glaser, T., Jones, C. A., Lewis, W. H., Call, K., Rose, E. A., Buckler, A., Ito, C., Housman, D. E.
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<strong>The ultrafine structure of the WAGR gene complex. (Abstract)</strong>
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Cytogenet. Cell Genet. 51: 1005 only, 1989.
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<a id="Junien1980" class="mim-anchor"></a>
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Junien, C., Turleau, C., de Grouchy, J., Said, R., Rethore, M.-O., Tenconi, R., Dufier, J. L.
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<strong>Regional assignment of catalase (CAT) gene to band 11p13: association with the aniridia-Wilms' tumor-gonadoblastoma (WAGR) complex.</strong>
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Ann. Genet. 23: 165-168, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6252821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6252821</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6252821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Kawase2001" class="mim-anchor"></a>
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<p class="mim-text-font">
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Kawase, E., Tanaka, K., Honna, T., Azuma, N.
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<strong>A case of atypical WAGR syndrome with anterior segment anomaly and microphthalmos.</strong>
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<a id="Little1993" class="mim-anchor"></a>
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<p class="mim-text-font">
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Little, M. H., Williamson, K. A., Mannens, M., Kelsey, A., Gosden, C., Hastie, N. D., van Heyningen, V.
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<strong>Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion.</strong>
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Hum. Molec. Genet. 2: 259-264, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8388765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8388765</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8388765" 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/2.3.259" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Marshall1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Marshall, L. S., Qureshi, A. R., DiGeorge, A. M., Kistenmacher, M. L., Punnett, H. H.
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<strong>Aniridia and the 11p13 deletion. (Abstract)</strong>
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Am. J. Hum. Genet. 34: 74A, 1982.
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<a id="Miller1964" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Miller, R. W., Fraumeni, J. F., Jr., Manning, M. D.
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<strong>Association of Wilms' tumor with aniridia, hemihypertrophy and other congenital malformations.</strong>
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New Eng. J. Med. 270: 922-927, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14114111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14114111</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14114111" 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/10.1056/NEJM196404302701802" target="_blank">Full Text</a>]
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<a id="Porteous1987" class="mim-anchor"></a>
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Porteous, D. J., Bickmore, W., Christie, S., Boyd, P. A., Cranston, G., Fletcher, J. M., Gosden, J. R., Rout, D., Seawright, A., Simola, K. O. J., van Heyningen, V., Hastie, N. D.
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<strong>HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13.</strong>
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Proc. Nat. Acad. Sci. 84: 5355-5359, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3037545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3037545</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3037545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.84.15.5355" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Puissant1988" class="mim-anchor"></a>
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Puissant, H., Azoulay, M., Serre, J.-L., Piet, L., Junien, C.
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<strong>Molecular analysis of a reciprocal translocation t(5;11)(q11;p13) in a WAGR patient.</strong>
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Hum. Genet. 79: 280-282, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2841227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2841227</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2841227" 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/BF00366252" target="_blank">Full Text</a>]
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<a id="Riccardi1982" class="mim-anchor"></a>
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Riccardi, V. M., Hittner, H. M., Strong, L. C., Fernbach, D. J., Lebo, R., Ferrell, R. E.
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<strong>Wilms tumor with aniridia/iris dysplasia and apparently normal chromosomes.</strong>
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J. Pediat. 100: 574-577, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6278119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6278119</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6278119" 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(82)80755-5" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Riccardi1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Riccardi, V. M., Sujansky, E., Smith, A. C., Francke, U.
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<strong>Chromosomal imbalance in the aniridia--Wilms' tumor association: 11p interstitial deletion.</strong>
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Pediatrics 61: 604-610, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/208044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">208044</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=208044" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Shannon1982" class="mim-anchor"></a>
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Shannon, R. S., Mann, J. R., Harper, E., Harnden, D. G., Morten, J. E. N., Herbert, A.
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<strong>Wilms's tumour and aniridia: clinical and cytogenetic features.</strong>
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Arch. Dis. Child. 57: 685-690, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6289758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6289758</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6289758" 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/10.1136/adc.57.9.685" target="_blank">Full Text</a>]
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<a id="Turleau1981" class="mim-anchor"></a>
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Turleau, C., de Grouchy, J., Dufier, J. L., Phuc, L. H., Schmelck, P. H., Rappaport, R., Nihoul-Fekete, C., Diebold, N.
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<strong>Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.</strong>
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Hum. Genet. 57: 300-306, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6114032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6114032</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6114032" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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van Heyningen, V., Bickmore, W. A., Seawright, A., Fletcher, J. M., Maule, J., Fekete, G., Gessler, M., Bruns, G. A. P., Huerre-Jeanpierre, C., Junien, C., Williams, B. R. G., Hastie, N. D.
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<strong>Role for the Wilms tumor gene in genital development?</strong>
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Proc. Nat. Acad. Sci. 87: 5383-5386, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1973540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1973540</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1973540" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.87.14.5383" target="_blank">Full Text</a>]
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<a id="Yi2014" class="mim-anchor"></a>
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Yi, T., Weng, J., Siwko, S., Luo, J., Li, D., Liu, M.
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<strong>LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects.</strong>
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J. Biol. Chem. 289: 8767-8780, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24519938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24519938</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24519938[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=24519938" 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/10.1074/jbc.M113.530816" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Paul J. Converse - updated : 10/22/2015
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 4/26/2005<br>Jane Kelly - updated : 4/19/2002<br>Victor A. McKusick - updated : 1/17/2002<br>Victor A. McKusick - updated : 9/29/2000
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Creation Date:
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Victor A. McKusick : 4/6/1994
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carol : 12/22/2022
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carol : 12/19/2022<br>carol : 12/18/2022<br>mgross : 10/22/2015<br>terry : 8/18/2009<br>terry : 8/18/2009<br>carol : 7/22/2009<br>carol : 12/24/2008<br>alopez : 12/11/2008<br>carol : 9/9/2008<br>carol : 8/29/2008<br>carol : 8/29/2008<br>tkritzer : 4/29/2005<br>terry : 4/26/2005<br>ckniffin : 8/26/2002<br>mgross : 4/19/2002<br>mgross : 4/19/2002<br>ckniffin : 3/12/2002<br>carol : 1/31/2002<br>mcapotos : 1/22/2002<br>terry : 1/17/2002<br>mcapotos : 10/9/2000<br>terry : 10/6/2000<br>mcapotos : 10/6/2000<br>terry : 9/29/2000<br>alopez : 7/31/1997<br>carol : 4/6/1994
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<strong>#</strong> 194072
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WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; WAGR
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME<br />
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WAGR SYNDROME<br />
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CHROMOSOME 11p13 DELETION SYNDROME
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</span>
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</h4>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 4135001, 715215007;
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<strong>ORPHA:</strong> 893;
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<strong>DO:</strong> 14515;
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</span>
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</p>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 11p13
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:31,000,001-36,400,000 </span>
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</em>
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</strong>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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11p13
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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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Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development 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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194072
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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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Autosomal dominant; Somatic mutation
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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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4
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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>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because the WAGR syndrome is a contiguous gene syndrome due to deletion, either microscopic or submicroscopic, at chromosome 11p13 in a region containing the WT1 (607102) and PAX6 (607108) genes.</p><p>A subphenotype of WAGR including obesity (WAGRO) has been associated with haploinsufficiency for the BDNF gene (113505) and is discussed in 612469.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Miller et al. (1964) first described the association of aniridia, hemihypertrophy, and other congenital anomalies with Wilms tumor. The syndrome subsequently became known as the WAGR syndrome. In addition to 'genitourinary abnormalities,' the 'G' in WAGR syndrome may refer to 'ambiguous genitalia' (Riccardi et al., 1978) or 'gonadoblastoma' (Anderson et al., 1978). </p><p>Riccardi et al. (1978) observed a triad of aniridia, ambiguous genitalia, and mental retardation (AGR triad) in 3 patients with an interstitial deletion of the short arm of chromosome 11. One patient also had Wilms tumor. </p><p>Among 6 cases of aniridia, Francke et al. (1978) showed that Wilms tumor was not present in all cases: monozygotic twins had aniridia and mental retardation, but only 1 had Wilms tumor, and only 1 of the other 4 patients had Wilms tumor. The deleted segment common to all was the distal half of 11p13.</p><p>Anderson et al. (1978) described aniridia, cataract, gonadoblastoma, and mental retardation in a girl with an interstitial deletion of the short arm of chromosome 11. Gonadoblastoma occurs as part of the WAGR complex (Junien et al., 1980; Turleau et al., 1981). </p><p>In a report that focused on the aniridia component of the WAGR syndrome, Gilgenkrantz et al. (1982) analyzed the reported cases of aniridia with interstitial del(11)p. They reported a unique observation of hypertrophic cardiomyopathy in association with aniridia and catalase (CAT; 115500) deficiency in a patient with del(11)(p15.1p12). Riccardi et al. (1982) reported a patient with Wilms tumor and iris dysplasia, not aniridia. In the UK, Shannon et al. (1982) found the incidence of aniridia in cases of Wilms tumor to be 1 in 43. A survey detected 8 living and 3 dead children with Wilms tumor and aniridia. All 8 living children had deletion of 11p13. A high incidence of bilateral Wilms tumor (36%), male sex, early presentation, and advanced maternal age were features of the combined cases. Among 49 children with Wilms tumor without aniridia, only 1 had bilateral renal tumors. </p><p>Using high resolution chromosome banding, Marshall et al. (1982) studied 14 patients with aniridia. Seven were familial and had normal chromosomes; of 7 sporadic cases, 1 showed normal chromosomes and 6 had interstitial deletion of 11p of various lengths. Band 11p13 was included in the deletion in all 6 cases.</p><p>Little et al. (1993) suggested that the severe nephropathy associated with Denys-Drash syndrome (194080), which frequently leads to early renal failure, may result from the action of altered WT1 in blocking the normal activity of the wildtype protein. In contrast, because of the less severe genital anomalies and apparent lack of nephropathy associated with WAGR, a reduced WT1 dosage during embryogenesis is thought to have a less pronounced effect on development, especially on that of the renal system. </p><p>Breslow et al. (2000) reviewed nearly 6,000 patients enrolled in 4 clinical trials of the U. S. National Wilms Tumor Study Group between 1969 and 1995 who were followed until death or for a median of 11.0 years of survival for the onset of renal failure. Of 22 patients with Denys-Drash syndrome, 13 developed renal failure; of 46 patients with WAGR, 10 developed renal failure. The cumulative risks of renal failure at 20 years were 62% and 38%, respectively. The findings suggested that nephropathy is not associated uniquely with missense mutations in the WT1 gene and that patients with Wilms tumor and aniridia or genitourinary abnormalities should be followed closely throughout life for signs of nephropathy. </p><p><strong><em>WAGR Syndrome with Atypical Eye Findings</em></strong></p><p>
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Kawase et al. (2001) reported a case of WAGR syndrome with atypical eye findings. The boy presented at 1 month of age with microphthalmos bilaterally, microcornea and corneal cyst in the right eye, and corneal opacity (consistent with Peters anomaly) and absent anterior chamber in the left eye. Electroretinogram was normal in the right eye and subnormal in the left eye, suggesting retinal dysfunction. The child was found to have bilateral Wilms tumors at age 3 years. He also had undescended testes and mental retardation. Chromosome analysis revealed deletion of chromosome 11p15.1-p13. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Cytogenetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Puissant et al. (1988) reported a patient with WAGR and a de novo reciprocal translocation 46,XY,t(5;11)(q11;p13). On Southern blot analysis, the gene encoding catalase had been deleted, but the gene encoding the beta subunit of follicle-stimulating hormone (FSHB) was intact. Evidence from studies of balanced translocations and other observations had suggested that the genitourinary dysplasia, like aniridia, was due to a separate gene in close proximity to the WT1 gene in band 11p13 (Bickmore et al., 1989; Glaser et al., 1989). By HRAS1-selected chromosome transfer, Porteous et al. (1987) defined 10 distinct regions of the short arm of chromosome 11, 5 of which subdivided band 11p13. They also mapped 2 independent 11p13 translocation breakpoints to within the smallest region of overlap defined by the WAGR deletions. One came from a patient with familial aniridia and the second from a patient with Potter facies and genitourinary dysplasia (urethral and ureteral atresia and bilateral cryptorchidism). Porteous et al. (1987) raised the question of whether Wilms tumor and genitourinary dysplasia are alternative manifestations of mutations at the same locus. A separate gene coding for genitourinary dysplasia (symbolized GUD) was also suggested by Bonetta et al. (1989), who found that the deletion breakpoint of a translocation t(11;2)(p13;p11) in a patient with Potter facies and genitourinary dysplasia mapped to the same 225-kb pulsed field gel electrophoresis fragment as did the fragment deleted in Wilms tumor. However, van Heyningen et al. (1990) suggested that the Wilms tumor gene itself may be responsible for abnormalities of genitourinary development in WAGR as a pleiotropic effect. The suggestion was based on the observations that the tumor predisposition and the genitourinary malformations map to precisely the same area and that the WT candidate gene shows expression in both the developing kidney and gonads. That there is no GUD gene separate from the WT1 gene is supported by the fact that the Denys-Drash syndrome (nephropathy, Wilms tumor, and genital anomalies; 194080) is caused by specific point mutations in the WT1 gene (e.g., 607102.0003). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Diagnosis</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Apparent close linkage of the region determining the WAGR syndrome to the catalase locus (CAT; 115500) means that assay of catalase activity could usefully indicate those cases of new-mutation aniridia that should have surveillance for the development of renal or gonadal tumors (Junien et al., 1980). </p>
|
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</span>
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<div>
|
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<br />
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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|
|
<span class="mim-text-font">
|
|
<p>In WAGR syndrome, aniridia is due to the PAX6 gene, whereas the other features are probably due to the WT1 gene.</p>
|
|
</span>
|
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<div>
|
|
<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>AGR syndrome is a subgroup of WAGR syndrome in which patients do not develop Wilms tumor and is associated with deletion of chromosome 11p14.1-p13, where the LGR4 gene (GPR48; 606666) is located. Yi et al. (2014) found that mice lacking Lgr4 had aniridia, polycystic kidney disease, genitourinary abnormalities, and mental retardation, similar to the pathologic defects of AGR syndrome. Inactivation of Lgr4 significantly increased apoptosis and decreased expression of multiple genes involved in development of WAGR syndrome-related organs. Yi et al. (2014) proposed that LGR4 is a candidate gene for the pathogenesis of AGR syndrome. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
|
Anderson, S. R., Geertinger, P., Larsen, H.-W., Mikkelsen, M., Parving, A., Vestermark, S., Warburg, M.
|
|
<strong>Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome 11: a clinicopathological case report.</strong>
|
|
Ophthalmologica 176: 171-177, 1978.
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[PubMed: 613291]
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[Full Text: https://doi.org/10.1159/000308711]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Bickmore, W. A., Porteous, D. J., Christie, S., Seawright, A., Fletcher, J. M., Maule, J. C., Couillin, P., Junien, C., Hastie, N. D., van Heyningen, V.
|
|
<strong>CpG islands surround a DNA segment located between translocation breakpoints associated with genitourinary dysplasia and aniridia.</strong>
|
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Genomics 5: 685-693, 1989.
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[PubMed: 2556343]
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[Full Text: https://doi.org/10.1016/0888-7543(89)90109-2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Bonetta, L., Huang, A., Gregoris, M., Yeger, H., Williams, B. R. G.
|
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<strong>Characterization of a homozygous deletion mapping to the Wilms tumor region on 11p13. (Abstract)</strong>
|
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Cytogenet. Cell Genet. 51: 965 only, 1989.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Breslow, N. E., Takashima, J. R., Ritchey, M. L., Strong, L. C., Green, D. M.
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<strong>Renal failure in the Denys-Drash and Wilms' tumor-aniridia syndromes.</strong>
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Cancer Res. 60: 4030-4032, 2000.
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[PubMed: 10945603]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Francke, U., Riccardi, V. M., Hittner, H. M., Borges, W.
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<strong>Interstitial del(11p) as a cause of the aniridia-Wilms tumor association: band localization and a heritable basis. (Abstract)</strong>
|
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Am. J. Hum. Genet. 30: 81A, 1978.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Gilgenkrantz, S., Vigneron, C., Gregoire, M. J., Pernot, C., Raspiller, A.
|
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<strong>Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy.</strong>
|
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Am. J. Med. Genet. 13: 39-49, 1982.
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[PubMed: 6127950]
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[Full Text: https://doi.org/10.1002/ajmg.1320130108]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Glaser, T., Jones, C. A., Lewis, W. H., Call, K., Rose, E. A., Buckler, A., Ito, C., Housman, D. E.
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<strong>The ultrafine structure of the WAGR gene complex. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 1005 only, 1989.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Junien, C., Turleau, C., de Grouchy, J., Said, R., Rethore, M.-O., Tenconi, R., Dufier, J. L.
|
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<strong>Regional assignment of catalase (CAT) gene to band 11p13: association with the aniridia-Wilms' tumor-gonadoblastoma (WAGR) complex.</strong>
|
|
Ann. Genet. 23: 165-168, 1980.
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[PubMed: 6252821]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Kawase, E., Tanaka, K., Honna, T., Azuma, N.
|
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<strong>A case of atypical WAGR syndrome with anterior segment anomaly and microphthalmos.</strong>
|
|
Arch. Ophthal. 119: 1855-1856, 2001.
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[PubMed: 11735802]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Little, M. H., Williamson, K. A., Mannens, M., Kelsey, A., Gosden, C., Hastie, N. D., van Heyningen, V.
|
|
<strong>Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion.</strong>
|
|
Hum. Molec. Genet. 2: 259-264, 1993.
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[PubMed: 8388765]
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[Full Text: https://doi.org/10.1093/hmg/2.3.259]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Marshall, L. S., Qureshi, A. R., DiGeorge, A. M., Kistenmacher, M. L., Punnett, H. H.
|
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<strong>Aniridia and the 11p13 deletion. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 34: 74A, 1982.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Miller, R. W., Fraumeni, J. F., Jr., Manning, M. D.
|
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<strong>Association of Wilms' tumor with aniridia, hemihypertrophy and other congenital malformations.</strong>
|
|
New Eng. J. Med. 270: 922-927, 1964.
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[PubMed: 14114111]
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[Full Text: https://doi.org/10.1056/NEJM196404302701802]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Porteous, D. J., Bickmore, W., Christie, S., Boyd, P. A., Cranston, G., Fletcher, J. M., Gosden, J. R., Rout, D., Seawright, A., Simola, K. O. J., van Heyningen, V., Hastie, N. D.
|
|
<strong>HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13.</strong>
|
|
Proc. Nat. Acad. Sci. 84: 5355-5359, 1987.
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[PubMed: 3037545]
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[Full Text: https://doi.org/10.1073/pnas.84.15.5355]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Puissant, H., Azoulay, M., Serre, J.-L., Piet, L., Junien, C.
|
|
<strong>Molecular analysis of a reciprocal translocation t(5;11)(q11;p13) in a WAGR patient.</strong>
|
|
Hum. Genet. 79: 280-282, 1988.
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|
[PubMed: 2841227]
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[Full Text: https://doi.org/10.1007/BF00366252]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Riccardi, V. M., Hittner, H. M., Strong, L. C., Fernbach, D. J., Lebo, R., Ferrell, R. E.
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<strong>Wilms tumor with aniridia/iris dysplasia and apparently normal chromosomes.</strong>
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[PubMed: 6278119]
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[Full Text: https://doi.org/10.1016/s0022-3476(82)80755-5]
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Riccardi, V. M., Sujansky, E., Smith, A. C., Francke, U.
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<strong>Chromosomal imbalance in the aniridia--Wilms' tumor association: 11p interstitial deletion.</strong>
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Pediatrics 61: 604-610, 1978.
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[PubMed: 208044]
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Shannon, R. S., Mann, J. R., Harper, E., Harnden, D. G., Morten, J. E. N., Herbert, A.
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<strong>Wilms's tumour and aniridia: clinical and cytogenetic features.</strong>
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Arch. Dis. Child. 57: 685-690, 1982.
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[PubMed: 6289758]
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[Full Text: https://doi.org/10.1136/adc.57.9.685]
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Turleau, C., de Grouchy, J., Dufier, J. L., Phuc, L. H., Schmelck, P. H., Rappaport, R., Nihoul-Fekete, C., Diebold, N.
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<strong>Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.</strong>
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Hum. Genet. 57: 300-306, 1981.
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[PubMed: 6114032]
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van Heyningen, V., Bickmore, W. A., Seawright, A., Fletcher, J. M., Maule, J., Fekete, G., Gessler, M., Bruns, G. A. P., Huerre-Jeanpierre, C., Junien, C., Williams, B. R. G., Hastie, N. D.
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<strong>Role for the Wilms tumor gene in genital development?</strong>
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[PubMed: 1973540]
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[Full Text: https://doi.org/10.1073/pnas.87.14.5383]
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Yi, T., Weng, J., Siwko, S., Luo, J., Li, D., Liu, M.
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<strong>LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects.</strong>
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[PubMed: 24519938]
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[Full Text: https://doi.org/10.1074/jbc.M113.530816]
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Paul J. Converse - updated : 10/22/2015<br>Victor A. McKusick - updated : 4/26/2005<br>Jane Kelly - updated : 4/19/2002<br>Victor A. McKusick - updated : 1/17/2002<br>Victor A. McKusick - updated : 9/29/2000
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Victor A. McKusick : 4/6/1994
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carol : 12/22/2022<br>carol : 12/19/2022<br>carol : 12/18/2022<br>mgross : 10/22/2015<br>terry : 8/18/2009<br>terry : 8/18/2009<br>carol : 7/22/2009<br>carol : 12/24/2008<br>alopez : 12/11/2008<br>carol : 9/9/2008<br>carol : 8/29/2008<br>carol : 8/29/2008<br>tkritzer : 4/29/2005<br>terry : 4/26/2005<br>ckniffin : 8/26/2002<br>mgross : 4/19/2002<br>mgross : 4/19/2002<br>ckniffin : 3/12/2002<br>carol : 1/31/2002<br>mcapotos : 1/22/2002<br>terry : 1/17/2002<br>mcapotos : 10/9/2000<br>terry : 10/6/2000<br>mcapotos : 10/6/2000<br>terry : 9/29/2000<br>alopez : 7/31/1997<br>carol : 4/6/1994
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