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Entry
- #194071 - WILMS TUMOR 2; WT2
- OMIM
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<span class="h4">#194071</span>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/194071"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS194070"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
<a href="#references"><strong>References</strong></a>
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<li role="presentation">
<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(WILMS TUMOR) OR (ICR1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=852&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1294/" 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>
<div><a href="https://www.diseaseinfosearch.org/x/2778" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=194071[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>
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=654" 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 style="display: table-cell;">Animal Models</div>
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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 class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 654<br />
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<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
194071
</span>
</span>
</div>
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
WILMS TUMOR 2; WT2
</span>
</h3>
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<div>
<br />
</div>
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<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/71?start=-3&limit=10&highlight=71">
11p15.5
</a>
</span>
</td>
<td>
<span class="mim-font">
Wilms tumor 2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/194071"> 194071 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Somatic mutation">SMu</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
ICR1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616186"> 616186 </a>
</span>
</td>
</tr>
</tbody>
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<a href="/clinicalSynopsis/194071" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/194071" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/194071" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br /> -
Somatic mutation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124975008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124975008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866227</a>, <a href="https://bioportal.bioontology.org/search?q=C0544886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0544886</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<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 />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEOPLASIA </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Nephroblastoma (Wilms tumor) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25081006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25081006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027708</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002667" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002667</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002667" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002667</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Most case are sporadic<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the H19-IGF2-imprinting control region gene (ICR1, <a href="/entry/616186#0002">616186.0002</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Wilms tumor
- <a href="/phenotypicSeries/PS194070">PS194070</a>
- 8 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/243?start=-3&limit=10&highlight=243"> 4q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616806"> {Wilms tumor 6, susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616806"> 616806 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600571"> REST </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600571"> 600571 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/205?start=-3&limit=10&highlight=205"> 7p14.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601583"> {Wilms tumor susceptibility-5} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Somatic mutation">SMu</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601583"> 601583 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609062"> POU6F2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609062"> 609062 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/71?start=-3&limit=10&highlight=71"> 11p15.5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/194071"> Wilms tumor 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Somatic mutation">SMu</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/194071"> 194071 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616186"> ICR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616186"> 616186 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/284?start=-3&limit=10&highlight=284"> 11p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/194070"> Wilms tumor, type 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Somatic mutation">SMu</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/194070"> 194070 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607102"> WT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607102"> 607102 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/83?start=-3&limit=10&highlight=83"> 13q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/194070"> Wilms tumor </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Somatic mutation">SMu</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/194070"> 194070 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600185"> BRCA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600185"> 600185 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/402?start=-3&limit=10&highlight=402"> 16q </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/194090"> Wilms tumor, type 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/194090"> 194090 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/194090"> WT3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/194090"> 194090 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/404?start=-3&limit=10&highlight=404"> 17q12-q21 </a>
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<span class="mim-font">
<a href="/entry/601363"> Wilms tumor, type 4 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<span class="mim-font">
<a href="/entry/601363"> 601363 </a>
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<span class="mim-font">
<a href="/entry/601363"> WT4 </a>
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<span class="mim-font">
<a href="/entry/601363"> 601363 </a>
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<span class="mim-font">
<a href="/geneMap/X/692?start=-3&limit=10&highlight=692"> Xq26.2 </a>
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<span class="mim-font">
<a href="/entry/194070"> Wilms tumor, somatic </a>
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<span class="mim-font">
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/194070"> 194070 </a>
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<td>
<span class="mim-font">
<a href="/entry/300037"> GPC3 </a>
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</td>
<td>
<span class="mim-font">
<a href="/entry/300037"> 300037 </a>
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</table>
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Wilms tumor-2 (WT2) is caused by mutation of the H19/IGF2-imprinting control region (ICR1; <a href="/entry/616186">616186</a>) on chromosome 11p15. ICR1 controls imprinted expression of H19 (<a href="/entry/103280">103280</a>) and IGF2 (<a href="/entry/147470">147470</a>).</p><p>ICR1 and a neighboring imprinted gene cluster are implicated in Beckwith-Wiedemann syndrome (BWS; <a href="/entry/130650">130650</a>), of which Wilms tumor is a common feature.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of Wilms tumor, see WT1 (<a href="/entry/194070">194070</a>).</p>
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<a id="mapping" class="mim-anchor"></a>
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<strong>Mapping</strong>
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<p>Using a range of probes for chromosome 11, <a href="#5" class="mim-tip-reference" title="Mannens, M., Slater, R. M., Heyting, C., Bliek, J., de Kraker, J., Coad, N., de Pagter-Holthuizen, P., Pearson, P. L. &lt;strong&gt;Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms&#x27; tumours.&lt;/strong&gt; Hum. Genet. 81: 41-48, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2848758/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2848758&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00283727&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2848758">Mannens et al. (1988)</a> demonstrated that loss of heterozygosity in Wilms tumors may involve chromosome 11p15.5 in addition to 11p13. <a href="#3" class="mim-tip-reference" title="Jeanpierre, C., Antignac, C., Beroud, C., Lavedan, C., Henry, I., Saunders, G., Williams, B., Glaser, T., Junien, C. &lt;strong&gt;Constitutional and somatic deletions of two different regions of maternal chromosome 11 in Wilms tumor.&lt;/strong&gt; Genomics 7: 434-438, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1973142/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1973142&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0888-7543(90)90179-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1973142">Jeanpierre et al. (1990)</a> found loss of maternal alleles from the 11p15 area of the maternal chromosome in Wilms tumor tissue and a constitutional deletion of 11p13 of the maternal chromosome. The authors noted that there have been other instances in which the 11p region involved in loss of heterozygosity (11p15) is different from the region involved in hereditary predisposition (11p13). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1973142+2848758" 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="Koufos, A., Grundy, P., Morgan, K., Aleck, K. A., Hadro, T., Lampkin, B. C., Kalbakji, A., Cavenee, W. K. &lt;strong&gt;Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5.&lt;/strong&gt; Am. J. Hum. Genet. 44: 711-719, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2539717/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2539717&lt;/a&gt;]" pmid="2539717">Koufos et al. (1989)</a> studied patients with sporadic Wilms tumors, not associated with BWS, and found that a subset of the tumors had attained somatic homozygosity through mitotic recombination, with the smallest shared region of overlap being distal to the beta-globin complex at 11p15.5. The data suggested that there is a second locus, distinct from that on 11p13, that plays a role in the Wilms tumor. See also <a href="#2" class="mim-tip-reference" title="Henry, I., Grandjouan, S., Couillin, P., Barichard, F., Huerre-Jeanpierre, C., Glaser, T., Philip, T., Lenoir, G., Chaussain, J. L., Junien, C. &lt;strong&gt;Tumor-specific loss of 11p15.5 alleles in del11p13 Wilms tumor and in familial adrenocortical carcinoma.&lt;/strong&gt; Proc. Nat. Acad. Sci. 86: 3247-3251, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2566168/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2566168&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.86.9.3247&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2566168">Henry et al. (1989)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2539717+2566168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Reeve, A. E., Sih, S. A., Raizis, A. M., Feinberg, A. P. &lt;strong&gt;Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms&#x27; tumor cells.&lt;/strong&gt; Molec. Cell. Biol. 9: 1799-1803, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2542777/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2542777&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1128/mcb.9.4.1799-1803.1989&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2542777">Reeve et al. (1989)</a> found loss of allelic heterozygosity at polymorphic 11p15 loci in Wilms tumor cells from 5 patients. In cells of 1 tumor, mitotic recombination had occurred distal to the gamma-globin gene on 11p15.5. <a href="#8" class="mim-tip-reference" title="Wadey, R. B., Pal, N., Buckle, B., Yeomans, E., Pritchard, J., Cowell, J. K. &lt;strong&gt;Loss of heterozygosity in Wilms&#x27; tumour involves two distinct regions of chromosome 11.&lt;/strong&gt; Oncogene 5: 901-907, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2163053/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2163053&lt;/a&gt;]" pmid="2163053">Wadey et al. (1990)</a> found that some Wilms tumors had allele loss restricted to 11p15 or to 11p13 and distal sequences. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2542777+2163053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Dowdy, S. F., Fasching, C. L., Araujo, D., Lai, K.-M., Livanos, E., Weissman, B. E., Stanbridge, E. J. &lt;strong&gt;Suppression of tumorigenicity in Wilms tumor by the p15.5-p14 region of chromosome 11.&lt;/strong&gt; Science 254: 293-295, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1656527/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1656527&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.254.5029.293&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1656527">Dowdy et al. (1991)</a> provided in vivo functional evidence for the existence of this second genetic locus involved in suppressing the tumorigenic phenotype of Wilms tumor: they constructed a chromosome 11 that had one or the other region deleted, and this chromosome was introduced into the tumorigenic Wilms tumor cell line G401. When assayed for tumor-forming activity in nude mice, the 11p13-deleted, but not the 11p15.5-p14.1-deleted chromosome, retained its ability to suppress tumor formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1656527" 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>
</span>
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<br />
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<div>
<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Molecular Genetics</strong>
</span>
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<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
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<p>Using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) of the 11p15 growth regulatory region, <a href="#7" class="mim-tip-reference" title="Scott, R. H., Douglas, J., Baskcomb, L., Huxter, N., Barker, K., Hanks, S., Craft, A., Gerrard, M., Kohler, J. A., Levitt, G. A., Picton, S., Pizer, B., and 10 others. &lt;strong&gt;Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.&lt;/strong&gt; Nature Genet. 40: 1329-1334, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18836444/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18836444&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.243&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18836444">Scott et al. (2008)</a> identified constitutional abnormalities at chromosome 11p15 in 13 (3%) of 437 individuals with sporadic Wilms tumor without features of overgrowth syndromes. Six patients had paternal uniparental disomy of 11p15 and 6 had hypermethylation at the H19 differentially methylated region (DMR) (see ICR1, <a href="/entry/616186">616186</a>). There were 2 familial cases. In 1 family, 2 sibs had a microdeletion of the H19 DMR (<a href="/entry/616186#0002">616186.0002</a>) that was inherited from the unaffected mother; 1 sib had isolated Wilms tumor and the other had features of BWS. In a second family, a mother and 2 daughters had a microinsertion in the H19 DMR (<a href="/entry/616186#0003">616186.0003</a>), inherited from the unaffected grandmother. No abnormalities were detected in 220 controls. Analysis of tumor tissue showed that the level of H19 DMR hypermethylation was greater in tumor compared to lymphocytes, suggesting that the tumors developed by clonal expansion of cells harboring the 11p15 defect. There was no evidence of additional tumor-specific 11p15 abnormalities affecting the wildtype allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18836444" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Dowdy1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dowdy, S. F., Fasching, C. L., Araujo, D., Lai, K.-M., Livanos, E., Weissman, B. E., Stanbridge, E. J.
<strong>Suppression of tumorigenicity in Wilms tumor by the p15.5-p14 region of chromosome 11.</strong>
Science 254: 293-295, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1656527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1656527</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1656527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1126/science.254.5029.293" target="_blank">Full Text</a>]
</p>
</div>
</li>
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<a id="2" class="mim-anchor"></a>
<a id="Henry1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Henry, I., Grandjouan, S., Couillin, P., Barichard, F., Huerre-Jeanpierre, C., Glaser, T., Philip, T., Lenoir, G., Chaussain, J. L., Junien, C.
<strong>Tumor-specific loss of 11p15.5 alleles in del11p13 Wilms tumor and in familial adrenocortical carcinoma.</strong>
Proc. Nat. Acad. Sci. 86: 3247-3251, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2566168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2566168</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2566168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.86.9.3247" target="_blank">Full Text</a>]
</p>
</div>
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<a id="3" class="mim-anchor"></a>
<a id="Jeanpierre1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Jeanpierre, C., Antignac, C., Beroud, C., Lavedan, C., Henry, I., Saunders, G., Williams, B., Glaser, T., Junien, C.
<strong>Constitutional and somatic deletions of two different regions of maternal chromosome 11 in Wilms tumor.</strong>
Genomics 7: 434-438, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1973142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1973142</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1973142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0888-7543(90)90179-x" target="_blank">Full Text</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Koufos1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Koufos, A., Grundy, P., Morgan, K., Aleck, K. A., Hadro, T., Lampkin, B. C., Kalbakji, A., Cavenee, W. K.
<strong>Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5.</strong>
Am. J. Hum. Genet. 44: 711-719, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2539717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2539717</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2539717" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
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<li>
<a id="5" class="mim-anchor"></a>
<a id="Mannens1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mannens, M., Slater, R. M., Heyting, C., Bliek, J., de Kraker, J., Coad, N., de Pagter-Holthuizen, P., Pearson, P. L.
<strong>Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms' tumours.</strong>
Hum. Genet. 81: 41-48, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2848758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2848758</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2848758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00283727" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Reeve1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Reeve, A. E., Sih, S. A., Raizis, A. M., Feinberg, A. P.
<strong>Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms' tumor cells.</strong>
Molec. Cell. Biol. 9: 1799-1803, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2542777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2542777</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2542777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1128/mcb.9.4.1799-1803.1989" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Scott2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Scott, R. H., Douglas, J., Baskcomb, L., Huxter, N., Barker, K., Hanks, S., Craft, A., Gerrard, M., Kohler, J. A., Levitt, G. A., Picton, S., Pizer, B., and 10 others.
<strong>Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.</strong>
Nature Genet. 40: 1329-1334, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18836444/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18836444</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18836444" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng.243" target="_blank">Full Text</a>]
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Wadey, R. B., Pal, N., Buckle, B., Yeomans, E., Pritchard, J., Cowell, J. K.
<strong>Loss of heterozygosity in Wilms' tumour involves two distinct regions of chromosome 11.</strong>
Oncogene 5: 901-907, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2163053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2163053</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2163053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Victor A. McKusick : 3/7/1990
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carol : 06/21/2023
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<h3>
<span class="mim-font">
<strong>#</strong> 194071
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<h3>
<span class="mim-font">
WILMS TUMOR 2; WT2
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<p>
<span class="mim-text-font">
<strong>ORPHA:</strong> 654; &nbsp;
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<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<th>
Location
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<th>
Phenotype
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<th>
Phenotype <br /> MIM number
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<th>
Inheritance
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<th>
Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<td>
<span class="mim-font">
11p15.5
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<span class="mim-font">
Wilms tumor 2
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<td>
<span class="mim-font">
194071
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<td>
<span class="mim-font">
Autosomal dominant; Somatic mutation
</span>
</td>
<td>
<span class="mim-font">
3
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<td>
<span class="mim-font">
ICR1
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</td>
<td>
<span class="mim-font">
616186
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</td>
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</tbody>
</table>
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<span class="mim-font">
<strong>TEXT</strong>
</span>
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<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that Wilms tumor-2 (WT2) is caused by mutation of the H19/IGF2-imprinting control region (ICR1; 616186) on chromosome 11p15. ICR1 controls imprinted expression of H19 (103280) and IGF2 (147470).</p><p>ICR1 and a neighboring imprinted gene cluster are implicated in Beckwith-Wiedemann syndrome (BWS; 130650), of which Wilms tumor is a common feature.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of Wilms tumor, see WT1 (194070).</p>
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<h4>
<span class="mim-font">
<strong>Mapping</strong>
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<span class="mim-text-font">
<p>Using a range of probes for chromosome 11, Mannens et al. (1988) demonstrated that loss of heterozygosity in Wilms tumors may involve chromosome 11p15.5 in addition to 11p13. Jeanpierre et al. (1990) found loss of maternal alleles from the 11p15 area of the maternal chromosome in Wilms tumor tissue and a constitutional deletion of 11p13 of the maternal chromosome. The authors noted that there have been other instances in which the 11p region involved in loss of heterozygosity (11p15) is different from the region involved in hereditary predisposition (11p13). </p><p>Koufos et al. (1989) studied patients with sporadic Wilms tumors, not associated with BWS, and found that a subset of the tumors had attained somatic homozygosity through mitotic recombination, with the smallest shared region of overlap being distal to the beta-globin complex at 11p15.5. The data suggested that there is a second locus, distinct from that on 11p13, that plays a role in the Wilms tumor. See also Henry et al. (1989). </p><p>Reeve et al. (1989) found loss of allelic heterozygosity at polymorphic 11p15 loci in Wilms tumor cells from 5 patients. In cells of 1 tumor, mitotic recombination had occurred distal to the gamma-globin gene on 11p15.5. Wadey et al. (1990) found that some Wilms tumors had allele loss restricted to 11p15 or to 11p13 and distal sequences. </p><p>Dowdy et al. (1991) provided in vivo functional evidence for the existence of this second genetic locus involved in suppressing the tumorigenic phenotype of Wilms tumor: they constructed a chromosome 11 that had one or the other region deleted, and this chromosome was introduced into the tumorigenic Wilms tumor cell line G401. When assayed for tumor-forming activity in nude mice, the 11p13-deleted, but not the 11p15.5-p14.1-deleted chromosome, retained its ability to suppress tumor formation. </p>
</span>
<div>
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<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) of the 11p15 growth regulatory region, Scott et al. (2008) identified constitutional abnormalities at chromosome 11p15 in 13 (3%) of 437 individuals with sporadic Wilms tumor without features of overgrowth syndromes. Six patients had paternal uniparental disomy of 11p15 and 6 had hypermethylation at the H19 differentially methylated region (DMR) (see ICR1, 616186). There were 2 familial cases. In 1 family, 2 sibs had a microdeletion of the H19 DMR (616186.0002) that was inherited from the unaffected mother; 1 sib had isolated Wilms tumor and the other had features of BWS. In a second family, a mother and 2 daughters had a microinsertion in the H19 DMR (616186.0003), inherited from the unaffected grandmother. No abnormalities were detected in 220 controls. Analysis of tumor tissue showed that the level of H19 DMR hypermethylation was greater in tumor compared to lymphocytes, suggesting that the tumors developed by clonal expansion of cells harboring the 11p15 defect. There was no evidence of additional tumor-specific 11p15 abnormalities affecting the wildtype allele. </p>
</span>
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<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Dowdy, S. F., Fasching, C. L., Araujo, D., Lai, K.-M., Livanos, E., Weissman, B. E., Stanbridge, E. J.
<strong>Suppression of tumorigenicity in Wilms tumor by the p15.5-p14 region of chromosome 11.</strong>
Science 254: 293-295, 1991.
[PubMed: 1656527]
[Full Text: https://doi.org/10.1126/science.254.5029.293]
</p>
</li>
<li>
<p class="mim-text-font">
Henry, I., Grandjouan, S., Couillin, P., Barichard, F., Huerre-Jeanpierre, C., Glaser, T., Philip, T., Lenoir, G., Chaussain, J. L., Junien, C.
<strong>Tumor-specific loss of 11p15.5 alleles in del11p13 Wilms tumor and in familial adrenocortical carcinoma.</strong>
Proc. Nat. Acad. Sci. 86: 3247-3251, 1989.
[PubMed: 2566168]
[Full Text: https://doi.org/10.1073/pnas.86.9.3247]
</p>
</li>
<li>
<p class="mim-text-font">
Jeanpierre, C., Antignac, C., Beroud, C., Lavedan, C., Henry, I., Saunders, G., Williams, B., Glaser, T., Junien, C.
<strong>Constitutional and somatic deletions of two different regions of maternal chromosome 11 in Wilms tumor.</strong>
Genomics 7: 434-438, 1990.
[PubMed: 1973142]
[Full Text: https://doi.org/10.1016/0888-7543(90)90179-x]
</p>
</li>
<li>
<p class="mim-text-font">
Koufos, A., Grundy, P., Morgan, K., Aleck, K. A., Hadro, T., Lampkin, B. C., Kalbakji, A., Cavenee, W. K.
<strong>Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5.</strong>
Am. J. Hum. Genet. 44: 711-719, 1989.
[PubMed: 2539717]
</p>
</li>
<li>
<p class="mim-text-font">
Mannens, M., Slater, R. M., Heyting, C., Bliek, J., de Kraker, J., Coad, N., de Pagter-Holthuizen, P., Pearson, P. L.
<strong>Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms&#x27; tumours.</strong>
Hum. Genet. 81: 41-48, 1988.
[PubMed: 2848758]
[Full Text: https://doi.org/10.1007/BF00283727]
</p>
</li>
<li>
<p class="mim-text-font">
Reeve, A. E., Sih, S. A., Raizis, A. M., Feinberg, A. P.
<strong>Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms&#x27; tumor cells.</strong>
Molec. Cell. Biol. 9: 1799-1803, 1989.
[PubMed: 2542777]
[Full Text: https://doi.org/10.1128/mcb.9.4.1799-1803.1989]
</p>
</li>
<li>
<p class="mim-text-font">
Scott, R. H., Douglas, J., Baskcomb, L., Huxter, N., Barker, K., Hanks, S., Craft, A., Gerrard, M., Kohler, J. A., Levitt, G. A., Picton, S., Pizer, B., and 10 others.
<strong>Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.</strong>
Nature Genet. 40: 1329-1334, 2008.
[PubMed: 18836444]
[Full Text: https://doi.org/10.1038/ng.243]
</p>
</li>
<li>
<p class="mim-text-font">
Wadey, R. B., Pal, N., Buckle, B., Yeomans, E., Pritchard, J., Cowell, J. K.
<strong>Loss of heterozygosity in Wilms&#x27; tumour involves two distinct regions of chromosome 11.</strong>
Oncogene 5: 901-907, 1990.
[PubMed: 2163053]
</p>
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Creation Date:
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Victor A. McKusick : 3/7/1990
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carol : 06/21/2023<br>carol : 05/19/2016<br>mgross : 1/15/2015<br>terry : 12/17/2009<br>carol : 10/16/2009<br>alopez : 11/21/2008<br>alopez : 11/21/2008<br>ckniffin : 11/19/2008<br>wwang : 4/25/2008<br>mgross : 3/18/2004<br>ckniffin : 8/26/2002<br>alopez : 5/30/2001<br>dkim : 12/4/1998<br>mark : 8/8/1996<br>mimadm : 6/7/1995<br>carol : 3/26/1994<br>supermim : 3/16/1992<br>carol : 10/30/1991<br>carol : 10/9/1990<br>carol : 9/6/1990
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