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<title>
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Entry
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- %602087 - ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 4; ARVD4
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- OMIM
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<span class="h4">%602087</span>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="/clinicalSynopsis/602087"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS107970"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">Gene Info</div>
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<div id="mimGeneInfoLinksFold" 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="http://biogps.org/#goto=genereport&id=425" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+425" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/425" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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</div>
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</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=18885&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/gtr/all/tests/?term=602087[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=217656" 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>
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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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</span>
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</span>
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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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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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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>ORPHA:</strong> 217656<br />
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<strong>DO:</strong> 0110073<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description or locus, molecular basis unknown">
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<span class="text-danger"><strong>%</strong></span>
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602087
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</span>
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</span>
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</div>
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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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ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 4; ARVD4
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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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ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 4; ARVC4
|
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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/2/837?start=-3&limit=10&highlight=837">2q32.1-q32.3</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:182100001-196600000&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'})">2:182,100,001-196,600,000</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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</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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<a href="/geneMap/2/837?start=-3&limit=10&highlight=837">
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2q32.1-q32.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Arrhythmogenic right ventricular dysplasia 4
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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/602087"> 602087 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods">2</abbr>
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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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<div class="btn-group ">
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<a href="/clinicalSynopsis/602087" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS107970" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
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<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/602087" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/602087" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
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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>
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<div>
|
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
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<strong> CARDIOVASCULAR </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<em> Heart </em>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
|
|
|
- Syncope or near-syncopal episodes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5883339&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5883339</a>]</span><br /> -
|
|
Ventricular tachycardia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/164895002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">164895002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25569003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25569003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I47.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I47.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I47.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I47.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344428&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344428</a>, <a href="https://bioportal.bioontology.org/search?q=C0042514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042514</a>, <a href="https://bioportal.bioontology.org/search?q=C2108113&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2108113</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004756" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004756</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004756" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004756</a>]</span><br /> -
|
|
Late potentials seen on electrocardiography (ECG) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5883340&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5883340</a>]</span><br /> -
|
|
Left bundle branch block seen on ECG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5883341&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5883341</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/164909002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">164909002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63467002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63467002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I44.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I44.7</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011713" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011713</a>]</span><br /> -
|
|
Replacement of right ventricular myocardium with fatty tissue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5883342&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5883342</a>]</span><br /> -
|
|
Right ventricular fibrosis, extensive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5883343&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5883343</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Risk of sudden death (may occur as early as second decade)<br /> -
|
|
Strenuous physical exercise may be associated with more severe symptoms<br />
|
|
|
|
</span>
|
|
</div>
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</div>
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</div>
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|
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
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|
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|
|
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|
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|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
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|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Arrhythmogenic right ventricular dysplasia
|
|
- <a href="/phenotypicSeries/PS107970">PS107970</a>
|
|
- 13 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/2/837?start=-3&limit=10&highlight=837"> 2q32.1-q32.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602087"> Arrhythmogenic right ventricular dysplasia 4 </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/602087"> 602087 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602087"> ARVD4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602087"> 602087 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/80?start=-3&limit=10&highlight=80"> 3p25.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604400"> Arrhythmogenic right ventricular dysplasia 5 </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>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604400"> 604400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612048"> TMEM43 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612048"> 612048 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<a href="/geneMap/6/42?start=-3&limit=10&highlight=42"> 6p24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607450"> Arrhythmogenic right ventricular dysplasia 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
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</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/607450"> 607450 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/125647"> DSP </a>
|
|
</span>
|
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</td>
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<span class="mim-font">
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<a href="/entry/125647"> 125647 </a>
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<a href="/geneMap/10/39?start=-3&limit=10&highlight=39"> 10p14-p12 </a>
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<span class="mim-font">
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<a href="/entry/604401"> Arrhythmogenic right ventricular dysplasia 6 </a>
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<span class="mim-font">
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<span class="mim-font">
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<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">
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<a href="/entry/604401"> 604401 </a>
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<span class="mim-font">
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<a href="/entry/604401"> ARVD6 </a>
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<span class="mim-font">
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<a href="/entry/604401"> 604401 </a>
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<span class="mim-font">
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<a href="/geneMap/10/234?start=-3&limit=10&highlight=234"> 10q21.3 </a>
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<span class="mim-font">
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<a href="/entry/615616"> Arrhythmogenic right ventricular dysplasia 13 </a>
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</td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/615616"> 615616 </a>
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<span class="mim-font">
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<a href="/entry/607667"> CTNNA3 </a>
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<span class="mim-font">
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<a href="/entry/607667"> 607667 </a>
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<span class="mim-font">
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<a href="/geneMap/12/281?start=-3&limit=10&highlight=281"> 12p11.21 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/609040"> Arrhythmogenic right ventricular dysplasia 9 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</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/609040"> 609040 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/602861"> PKP2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/602861"> 602861 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/geneMap/14/109?start=-3&limit=10&highlight=109"> 14q12-q22 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/602086"> Arrhythmogenic right ventricular dysplasia 3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/602086"> 602086 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/602086"> ARVD3 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/602086"> 602086 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/geneMap/14/405?start=-3&limit=10&highlight=405"> 14q24.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/107970"> Arrhythmogenic right ventricular dysplasia 1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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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/107970"> 107970 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/190230"> TGFB3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/190230"> 190230 </a>
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</span>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/17/555?start=-3&limit=10&highlight=555"> 17q21.2 </a>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
<a href="/entry/611528"> ?Arrhythmogenic right ventricular dysplasia 12 </a>
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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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/611528"> 611528 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/173325"> JUP </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/173325"> 173325 </a>
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</span>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/18/111?start=-3&limit=10&highlight=111"> 18q12.1 </a>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/618920"> Arrhythmogenic right ventricular dysplasia 14 </a>
|
|
</span>
|
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</td>
|
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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</span>
|
|
</td>
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<td>
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<span class="mim-font">
|
|
<a href="/entry/618920"> 618920 </a>
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/114020"> CDH2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/114020"> 114020 </a>
|
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</span>
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</td>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/18/113?start=-3&limit=10&highlight=113"> 18q12.1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610476"> Arrhythmogenic right ventricular dysplasia 11 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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<span class="mim-font">
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<a href="/entry/610476"> 610476 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/125645"> DSC2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/125645"> 125645 </a>
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</span>
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<span class="mim-font">
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<a href="/geneMap/18/113?start=-3&limit=10&highlight=113"> 18q12.1 </a>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610476"> Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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<a href="/entry/610476"> 610476 </a>
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<span class="mim-font">
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<a href="/entry/125645"> DSC2 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/125645"> 125645 </a>
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<span class="mim-font">
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<a href="/geneMap/18/118?start=-3&limit=10&highlight=118"> 18q12.1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610193"> Arrhythmogenic right ventricular dysplasia 10 </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/610193"> 610193 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/125671"> DSG2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/125671"> 125671 </a>
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</span>
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</td>
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</tbody>
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</table>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<h4>
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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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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Familial arrhythmogenic right ventricular dysplasia-4 (ARVD4) is characterized by progressive degeneration of the myocardium of the right ventricle, with focal necrosis of muscle cells followed by adipose and connective tissue replacement. The left ventricle may be partially involved. Patches of replacement tissue result in electrical instability and arrhythmias. Patients experience syncopal episodes, and sudden death may occur (summary by <a href="#3" class="mim-tip-reference" title="Rampazzo, A., Nava, A., Miorin, M., Fonderico, P., Pope, B., Tiso, N., Livolsi, B., Zimbello, R., Thiene, G., Danieli, G. A. <strong>ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm.</strong> Genomics 45: 259-263, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9344647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9344647</a>] [<a href="https://doi.org/10.1006/geno.1997.4927" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9344647">Rampazzo et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9344647" 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>For phenotypic information and evidence of genetic heterogeneity in this disorder, see ARVD1 (<a href="/entry/107970">107970</a>).</p>
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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Kirsch, L. R., Weinstock, D. J., Magid, M. S., Levin, A. R., Gold, J. P. <strong>Treatment of presumed arrhythmogenic right ventricular dysplasia in an adolescent.</strong> Chest 104: 298-300, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8325094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8325094</a>] [<a href="https://doi.org/10.1378/chest.104.1.298" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8325094">Kirsch et al. (1993)</a> described a family of Sicilian origin in which 2 sibs died suddenly in their teens and another had syncopal episodes. A brother died in his sleep at age 15 years, and a sister died at age 16 during basketball practice. Autopsy in the brother showed myocardial replacement with fibrous tissue; postmortem examination in the sister revealed massive replacement of the right ventricular myocardium by fatty tissue extending from the epicardium to the endocardium, with extensive fibrosis observed in the subendocardium of the ventricular wall and papillary muscle. The proband was a 16-year-old girl who reported lightheadedness and a near-syncopal episode at rest. Given her family history, she underwent extensive evaluation including cardiac catheterization, all of which showed normal results or was nondiagnostic. Analysis of endocardial biopsies taken at the time of catheterization showed no significant abnormalities in the left ventricular tissue, and 3 of 4 fragments from the right ventricle were also unremarkable; however, the remaining right ventricular fragment contained a cluster of fat cells and focal dense fibrosis. There was no evidence of inflammation or of myofiber necrosis or degeneration. The proband underwent prophylactic placement of an automatic implantable cardioverter-defibrillator (AICD). The authors noted that the family originated from Italy, where several families with arrhythmogenic right ventricular dysplasia (ARVD) and sudden death had been reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8325094" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Rampazzo, A., Nava, A., Miorin, M., Fonderico, P., Pope, B., Tiso, N., Livolsi, B., Zimbello, R., Thiene, G., Danieli, G. A. <strong>ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm.</strong> Genomics 45: 259-263, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9344647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9344647</a>] [<a href="https://doi.org/10.1006/geno.1997.4927" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9344647">Rampazzo et al. (1997)</a> studied 3 unrelated families with ARVD. Family 107 was the family of Sicilian ancestry originally described by <a href="#1" class="mim-tip-reference" title="Kirsch, L. R., Weinstock, D. J., Magid, M. S., Levin, A. R., Gold, J. P. <strong>Treatment of presumed arrhythmogenic right ventricular dysplasia in an adolescent.</strong> Chest 104: 298-300, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8325094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8325094</a>] [<a href="https://doi.org/10.1378/chest.104.1.298" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8325094">Kirsch et al. (1993)</a> in which there were 3 affected sibs; another sister had since been found to be clinically affected. In family 108, from Mantua in northern Italy, a father and 3 daughters were affected. One of the daughters experienced ventricular arrhythmias (Lown 4b) with left bundle branch block (LBBB), and the diagnosis was confirmed by angiographic study and cardiac biopsy. The other 3 patients had echocardiographic changes and late potentials on electrocardiogram (ECG); 2 were asymptomatic and 1 had ventricular arrhythmias. In family 109, from Udine in northern Italy, 2 brothers and their father were affected, and the paternal grandfather was reported to have died suddenly at age 51. One of the brothers had a syncopal episode while dancing and also reported cardiac arrhythmias. ECG monitoring revealed frequent arrhythmias (Lown 4b) and late potentials with LBBB, and ARVD was confirmed by myocardial biopsy, echocardiography, and electrophysiologic analysis. The other brother and their father were asymptomatic, but both showed echocardiographic changes typical of ARVD and late potentials on ECG. <a href="#3" class="mim-tip-reference" title="Rampazzo, A., Nava, A., Miorin, M., Fonderico, P., Pope, B., Tiso, N., Livolsi, B., Zimbello, R., Thiene, G., Danieli, G. A. <strong>ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm.</strong> Genomics 45: 259-263, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9344647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9344647</a>] [<a href="https://doi.org/10.1006/geno.1997.4927" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9344647">Rampazzo et al. (1997)</a> noted that affected individuals in all 3 families exhibited the unusual finding of localized involvement of the left ventricle. In addition, patients with severe manifestations were invariably involved in sporting activities in their youth, suggesting that strenuous physical exercise might be dangerous for patients with ARVD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8325094+9344647" 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 3 unrelated families with ARVD, 1 of Sicilian origin (107) that was originally described by <a href="#1" class="mim-tip-reference" title="Kirsch, L. R., Weinstock, D. J., Magid, M. S., Levin, A. R., Gold, J. P. <strong>Treatment of presumed arrhythmogenic right ventricular dysplasia in an adolescent.</strong> Chest 104: 298-300, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8325094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8325094</a>] [<a href="https://doi.org/10.1378/chest.104.1.298" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8325094">Kirsch et al. (1993)</a>, and 2 from northern Italy (108 and 109), <a href="#3" class="mim-tip-reference" title="Rampazzo, A., Nava, A., Miorin, M., Fonderico, P., Pope, B., Tiso, N., Livolsi, B., Zimbello, R., Thiene, G., Danieli, G. A. <strong>ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm.</strong> Genomics 45: 259-263, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9344647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9344647</a>] [<a href="https://doi.org/10.1006/geno.1997.4927" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9344647">Rampazzo et al. (1997)</a> mapped a novel ARVD locus to 2q32.1-q32.3, within the chromosomal region including markers D2S152, D2S103, and D2S389. Affected members of the 3 families showed clinical features typical of ARVD according to the diagnostic criteria of <a href="#2" class="mim-tip-reference" title="McKenna, W. J., Thiene, G., Nava, A., Fontaliran, F., Blomstrom-Lundqvist, C., Fontaine, G., Camerini, F. <strong>Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy.</strong> Brit. Heart J. 71: 215-218, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8142187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8142187</a>] [<a href="https://doi.org/10.1136/hrt.71.3.215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8142187">McKenna et al. (1994)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8325094+9344647+8142187" 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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Kirsch, L. R., Weinstock, D. J., Magid, M. S., Levin, A. R., Gold, J. P.
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<strong>Treatment of presumed arrhythmogenic right ventricular dysplasia in an adolescent.</strong>
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Chest 104: 298-300, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8325094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8325094</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8325094" 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/10.1378/chest.104.1.298" target="_blank">Full Text</a>]
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McKenna, W. J., Thiene, G., Nava, A., Fontaliran, F., Blomstrom-Lundqvist, C., Fontaine, G., Camerini, F.
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<strong>Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy.</strong>
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Brit. Heart J. 71: 215-218, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8142187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8142187</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8142187" 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/hrt.71.3.215" target="_blank">Full Text</a>]
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Rampazzo, A., Nava, A., Miorin, M., Fonderico, P., Pope, B., Tiso, N., Livolsi, B., Zimbello, R., Thiene, G., Danieli, G. A.
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<strong>ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm.</strong>
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Genomics 45: 259-263, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9344647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9344647</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9344647" 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/10.1006/geno.1997.4927" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 10/18/2023
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Victor A. McKusick : 10/27/1997
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alopez : 10/18/2023
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alopez : 03/15/2010<br>joanna : 3/18/2004<br>mgross : 1/5/2000<br>mark : 10/27/1997
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ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 4; ARVD4
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ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 4; ARVC4
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<strong>ORPHA:</strong> 217656;
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<strong>DO:</strong> 0110073;
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Cytogenetic location: 2q32.1-q32.3
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2q32.1-q32.3
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Arrhythmogenic right ventricular dysplasia 4
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602087
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Autosomal dominant
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<span class="mim-font">
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2
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<strong>Description</strong>
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<p>Familial arrhythmogenic right ventricular dysplasia-4 (ARVD4) is characterized by progressive degeneration of the myocardium of the right ventricle, with focal necrosis of muscle cells followed by adipose and connective tissue replacement. The left ventricle may be partially involved. Patches of replacement tissue result in electrical instability and arrhythmias. Patients experience syncopal episodes, and sudden death may occur (summary by Rampazzo et al., 1997). </p><p>For phenotypic information and evidence of genetic heterogeneity in this disorder, see ARVD1 (107970).</p>
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<strong>Clinical Features</strong>
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<p>Kirsch et al. (1993) described a family of Sicilian origin in which 2 sibs died suddenly in their teens and another had syncopal episodes. A brother died in his sleep at age 15 years, and a sister died at age 16 during basketball practice. Autopsy in the brother showed myocardial replacement with fibrous tissue; postmortem examination in the sister revealed massive replacement of the right ventricular myocardium by fatty tissue extending from the epicardium to the endocardium, with extensive fibrosis observed in the subendocardium of the ventricular wall and papillary muscle. The proband was a 16-year-old girl who reported lightheadedness and a near-syncopal episode at rest. Given her family history, she underwent extensive evaluation including cardiac catheterization, all of which showed normal results or was nondiagnostic. Analysis of endocardial biopsies taken at the time of catheterization showed no significant abnormalities in the left ventricular tissue, and 3 of 4 fragments from the right ventricle were also unremarkable; however, the remaining right ventricular fragment contained a cluster of fat cells and focal dense fibrosis. There was no evidence of inflammation or of myofiber necrosis or degeneration. The proband underwent prophylactic placement of an automatic implantable cardioverter-defibrillator (AICD). The authors noted that the family originated from Italy, where several families with arrhythmogenic right ventricular dysplasia (ARVD) and sudden death had been reported. </p><p>Rampazzo et al. (1997) studied 3 unrelated families with ARVD. Family 107 was the family of Sicilian ancestry originally described by Kirsch et al. (1993) in which there were 3 affected sibs; another sister had since been found to be clinically affected. In family 108, from Mantua in northern Italy, a father and 3 daughters were affected. One of the daughters experienced ventricular arrhythmias (Lown 4b) with left bundle branch block (LBBB), and the diagnosis was confirmed by angiographic study and cardiac biopsy. The other 3 patients had echocardiographic changes and late potentials on electrocardiogram (ECG); 2 were asymptomatic and 1 had ventricular arrhythmias. In family 109, from Udine in northern Italy, 2 brothers and their father were affected, and the paternal grandfather was reported to have died suddenly at age 51. One of the brothers had a syncopal episode while dancing and also reported cardiac arrhythmias. ECG monitoring revealed frequent arrhythmias (Lown 4b) and late potentials with LBBB, and ARVD was confirmed by myocardial biopsy, echocardiography, and electrophysiologic analysis. The other brother and their father were asymptomatic, but both showed echocardiographic changes typical of ARVD and late potentials on ECG. Rampazzo et al. (1997) noted that affected individuals in all 3 families exhibited the unusual finding of localized involvement of the left ventricle. In addition, patients with severe manifestations were invariably involved in sporting activities in their youth, suggesting that strenuous physical exercise might be dangerous for patients with ARVD. </p>
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<strong>Mapping</strong>
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<p>In 3 unrelated families with ARVD, 1 of Sicilian origin (107) that was originally described by Kirsch et al. (1993), and 2 from northern Italy (108 and 109), Rampazzo et al. (1997) mapped a novel ARVD locus to 2q32.1-q32.3, within the chromosomal region including markers D2S152, D2S103, and D2S389. Affected members of the 3 families showed clinical features typical of ARVD according to the diagnostic criteria of McKenna et al. (1994). </p>
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<strong>REFERENCES</strong>
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Kirsch, L. R., Weinstock, D. J., Magid, M. S., Levin, A. R., Gold, J. P.
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<strong>Treatment of presumed arrhythmogenic right ventricular dysplasia in an adolescent.</strong>
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Chest 104: 298-300, 1993.
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[PubMed: 8325094]
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[Full Text: https://doi.org/10.1378/chest.104.1.298]
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McKenna, W. J., Thiene, G., Nava, A., Fontaliran, F., Blomstrom-Lundqvist, C., Fontaine, G., Camerini, F.
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<strong>Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy.</strong>
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Brit. Heart J. 71: 215-218, 1994.
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[PubMed: 8142187]
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[Full Text: https://doi.org/10.1136/hrt.71.3.215]
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Rampazzo, A., Nava, A., Miorin, M., Fonderico, P., Pope, B., Tiso, N., Livolsi, B., Zimbello, R., Thiene, G., Danieli, G. A.
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<strong>ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm.</strong>
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Genomics 45: 259-263, 1997.
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[PubMed: 9344647]
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[Full Text: https://doi.org/10.1006/geno.1997.4927]
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Contributors:
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Marla J. F. O'Neill - updated : 10/18/2023
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Creation Date:
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Victor A. McKusick : 10/27/1997
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alopez : 10/18/2023<br>alopez : 03/15/2010<br>joanna : 3/18/2004<br>mgross : 1/5/2000<br>mark : 10/27/1997
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