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<title>
Entry
- #612877 - CARDIOMYOPATHY, DILATED, 1BB; CMD1BB
- OMIM
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<span class="h4">#612877</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/612877"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS115200"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=(CARDIOMYOPATHY, DILATED) OR (DSG2)" 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=635&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/NBK1309/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=154" 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 class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110458" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<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">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 154<br />
<strong>DO:</strong> 0110458<br />
">ICD+</a>
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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>
612877
</span>
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
CARDIOMYOPATHY, DILATED, 1BB; CMD1BB
</span>
</h3>
</div>
<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">
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<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/18/118?start=-3&limit=10&highlight=118">
18q12.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Cardiomyopathy, dilated, 1BB
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612877"> 612877 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
DSG2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/125671"> 125671 </a>
</span>
</td>
</tr>
</tbody>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/612877" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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</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 />
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<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 recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Left ventricular dysfunction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275514001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275514001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242698&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242698</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005162" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005162</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005162" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005162</a>]</span><br /> -
Heart failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84114007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84114007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42343007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42343007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/428.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/428" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/428.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018802</a>, <a href="https://bioportal.bioontology.org/search?q=C0018801&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018801</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span><br /> -
Ventricular dilation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6210001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6210001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278923</a>, <a href="https://bioportal.bioontology.org/search?q=C0264733&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264733</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span><br /> -
Cardiac arrhythmias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/698247007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">698247007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I49.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I49.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/427" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003811&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003811</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011675" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011675</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011675" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011675</a>]</span><br /> -
Myocyte size variation seen on cardiac biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678096&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678096</a>]</span><br /> -
Fibrosis seen on cardiac biopsy MOLECULAR BASIS Caused by mutation in the desmoglein-2 gene (DSG2, <a href="/entry/125671#0010">125671.0010</a>) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263756000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263756000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/112674009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">112674009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016059&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016059</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
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<div class="small">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Dilated cardiomyopathy
- <a href="/phenotypicSeries/PS115200">PS115200</a>
- 60 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/1/75?start=-3&limit=10&highlight=75"> 1p36.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615373"> Cardiomyopathy, dilated, 1LL </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/615373"> 615373 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605557"> PRDM16 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605557"> 605557 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/75?start=-3&limit=10&highlight=75"> 1p36.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615373"> Left ventricular noncompaction 8 </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/615373"> 615373 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605557"> PRDM16 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605557"> 605557 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/506?start=-3&limit=10&highlight=506"> 1p34.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618189"> Cardiomyopathy, dilated, 2C </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/618189"> 618189 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609853"> PPCS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609853"> 609853 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/740?start=-3&limit=10&highlight=740"> 1p31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613122"> Cardiomyopathy, dilated, 1CC </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/613122"> 613122 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613121"> NEXN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613121"> 613121 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1241?start=-3&limit=10&highlight=1241"> 1q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115200"> Cardiomyopathy, dilated, 1A </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/115200"> 115200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150330"> LMNA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150330"> 150330 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1564?start=-3&limit=10&highlight=1564"> 1q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601494"> Left ventricular noncompaction 6 </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/601494"> 601494 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191045"> TNNT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191045"> 191045 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1564?start=-3&limit=10&highlight=1564"> 1q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601494"> Cardiomyopathy, dilated, 1D </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/601494"> 601494 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191045"> TNNT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191045"> 191045 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1764?start=-3&limit=10&highlight=1764"> 1q42.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613697"> Cardiomyopathy, dilated, 1V </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/613697"> 613697 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600759"> PSEN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600759"> 600759 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1829?start=-3&limit=10&highlight=1829"> 1q43 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612158"> Cardiomyopathy, dilated, 1AA, with or without LVNC </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/612158"> 612158 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102573"> ACTN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102573"> 102573 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1829?start=-3&limit=10&highlight=1829"> 1q43 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612158"> Cardiomyopathy, hypertrophic, 23, with or without LVNC </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/612158"> 612158 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102573"> ACTN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102573"> 102573 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/566?start=-3&limit=10&highlight=566"> 2q14-q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604288"> Cardiomyopathy, dilated, 1H </a>
</span>
</td>
<td>
<span class="mim-font">
</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/604288"> 604288 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604288"> CMD1H </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604288"> 604288 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/823?start=-3&limit=10&highlight=823"> 2q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604145"> Cardiomyopathy, dilated, 1G </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/604145"> 604145 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> TTN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> 188840 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1040?start=-3&limit=10&highlight=1040"> 2q35 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604765"> Cardiomyopathy, dilated, 1I </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/604765"> 604765 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/125660"> DES </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/125660"> 125660 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/70?start=-3&limit=10&highlight=70"> 3p25.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615916"> Cardiomyopathy, dilated, 1NN </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/615916"> 615916 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164760"> RAF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164760"> 164760 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/181?start=-3&limit=10&highlight=181"> 3p22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601154"> Cardiomyopathy, dilated, 1E </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/601154"> 601154 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600163"> SCN5A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600163"> 600163 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/377?start=-3&limit=10&highlight=377"> 3p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611879"> Cardiomyopathy, dilated, 1Z </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/611879"> 611879 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191040"> TNNC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191040"> 191040 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/9?start=-3&limit=10&highlight=9"> 5p15.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613642"> Cardiomyopathy, dilated, 1GG </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/613642"> 613642 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600857"> SDHA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600857"> 600857 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/704?start=-3&limit=10&highlight=704"> 5q33.2-q33.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606685"> Cardiomyopathy, dilated, 1L </a>
</span>
</td>
<td>
<span class="mim-font">
</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/606685"> 606685 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601411"> SGCD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601411"> 601411 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/92?start=-3&limit=10&highlight=92"> 6p22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620462"> Cardiomyopathy, dilated, 2I </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/620462"> 620462 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618385"> CAP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618385"> 618385 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/621?start=-3&limit=10&highlight=621"> 6q12-q16 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605582"> Cardiomyopathy, dilated, 1K </a>
</span>
</td>
<td>
<span class="mim-font">
</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/605582"> 605582 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605582"> CMD1K </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605582"> 605582 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/786?start=-3&limit=10&highlight=786"> 6q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615235"> Cardiomyopathy, dilated, 1JJ </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/615235"> 615235 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600133"> LAMA4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600133"> 600133 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/815?start=-3&limit=10&highlight=815"> 6q22.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609909"> Cardiomyopathy, dilated, 1P </a>
</span>
</td>
<td>
<span class="mim-font">
</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/609909"> 609909 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172405"> PLN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172405"> 172405 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/874?start=-3&limit=10&highlight=874"> 6q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605362"> ?Cardiomyopathy, dilated, 1J </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/605362"> 605362 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603550"> EYA4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603550"> 603550 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/408?start=-3&limit=10&highlight=408"> 7q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614672"> ?Cardiomyopathy, dilated, 2B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614672"> 614672 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614518"> GATAD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614518"> 614518 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/562?start=-3&limit=10&highlight=562"> 7q22.3-q31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609915"> Cardiomyopathy, dilated, 1Q </a>
</span>
</td>
<td>
<span class="mim-font">
</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/609915"> 609915 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609915"> CMD1Q </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609915"> 609915 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/630?start=-3&limit=10&highlight=630"> 7q31.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619897"> Cardiomyopathy, dilated, 2G </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/619897"> 619897 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608006"> LMOD2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608006"> 608006 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/213?start=-3&limit=10&highlight=213"> 9q13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600884"> Cardiomyopathy, dilated 1B </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/600884"> 600884 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600884"> CMD1B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600884"> 600884 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/389?start=-3&limit=10&highlight=389"> 9q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611615"> Cardiomyopathy, dilated, 1X </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/611615"> 611615 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607440"> FKTN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607440"> 607440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/239?start=-3&limit=10&highlight=239"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615248"> Cardiomyopathy, dilated, 1KK </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/615248"> 615248 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> MYPN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> 608517 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/239?start=-3&limit=10&highlight=239"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615248"> Cardiomyopathy, familial restrictive, 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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615248"> 615248 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> MYPN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> 608517 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/239?start=-3&limit=10&highlight=239"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615248"> Cardiomyopathy, hypertrophic, 22 </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/615248"> 615248 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> MYPN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> 608517 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/312?start=-3&limit=10&highlight=312"> 10q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611407"> Cardiomyopathy, dilated, 1W </a>
</span>
</td>
<td>
<span class="mim-font">
</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/611407"> 611407 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/193065"> VCL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/193065"> 193065 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355"> 10q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601493"> Cardiomyopathy, dilated, 1C, with or without LVNC </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/601493"> 601493 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> LDB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> 605906 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355"> 10q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601493"> Cardiomyopathy, hypertrophic, 24 </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/601493"> 601493 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> LDB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> 605906 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355"> 10q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601493"> Left ventricular noncompaction 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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601493"> 601493 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> LDB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> 605906 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/560?start=-3&limit=10&highlight=560"> 10q25.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613172"> Cardiomyopathy, dilated, 1DD </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/613172"> 613172 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613171"> RBM20 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613171"> 613171 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/613?start=-3&limit=10&highlight=613"> 10q26.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613881"> Cardiomyopathy, dilated, 1HH </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/613881"> 613881 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> BAG3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> 603883 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/233?start=-3&limit=10&highlight=233"> 11p15.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607482"> ?Cardiomyopathy, dilated, 1M </a>
</span>
</td>
<td>
<span class="mim-font">
</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/607482"> 607482 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600824"> CSRP3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600824"> 600824 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/361?start=-3&limit=10&highlight=361"> 11p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615396"> Cardiomyopathy, dilated, 1MM </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/615396"> 615396 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600958"> MYBPC3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600958"> 600958 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/361?start=-3&limit=10&highlight=361"> 11p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615396"> Left ventricular noncompaction 10 </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/615396"> 615396 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600958"> MYBPC3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600958"> 600958 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925"> 11q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615184"> Cardiomyopathy, dilated, 1II </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/615184"> 615184 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> CRYAB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> 123590 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/230?start=-3&limit=10&highlight=230"> 12p12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608569"> Cardiomyopathy, dilated, 1O </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/608569"> 608569 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601439"> ABCC9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601439"> 601439 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/90?start=-3&limit=10&highlight=90"> 14q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613252"> Cardiomyopathy, dilated, 1EE </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/613252"> 613252 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160710"> MYH6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160710"> 160710 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/92?start=-3&limit=10&highlight=92"> 14q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613426"> Left ventricular noncompaction 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>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613426"> 613426 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160760"> MYH7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160760"> 160760 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/92?start=-3&limit=10&highlight=92"> 14q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613426"> Cardiomyopathy, dilated, 1S </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/613426"> 613426 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160760"> MYH7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160760"> 160760 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/361?start=-3&limit=10&highlight=361"> 14q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613694"> ?Cardiomyopathy, dilated, 1U </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/613694"> 613694 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/104311"> PSEN1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/104311"> 104311 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/577?start=-3&limit=10&highlight=577"> 14q32.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619747"> Cardiomyopathy, dilated, 2F </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/619747"> 619747 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603885"> BAG5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603885"> 603885 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/78?start=-3&limit=10&highlight=78"> 15q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613424"> Cardiomyopathy, dilated, 1R </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/613424"> 613424 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102540"> ACTC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102540"> 102540 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/78?start=-3&limit=10&highlight=78"> 15q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613424"> Left ventricular noncompaction 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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613424"> 613424 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102540"> ACTC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102540"> 102540 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/269?start=-3&limit=10&highlight=269"> 15q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611878"> Cardiomyopathy, dilated, 1Y </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/611878"> 611878 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191010"> TPM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191010"> 191010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/269?start=-3&limit=10&highlight=269"> 15q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611878"> Left ventricular noncompaction 9 </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/611878"> 611878 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191010"> TPM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191010"> 191010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/82?start=-3&limit=10&highlight=82"> 16p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619371"> Cardiomyopathy, dilated, 2D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/619371"> 619371 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617416"> RPL3L </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617416"> 617416 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/281?start=-3&limit=10&highlight=281"> 17p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620635"> Cardiomyopathy, dilated, 2J </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/620635"> 620635 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600362"> FLII </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600362"> 600362 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/777?start=-3&limit=10&highlight=777"> 17q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620247"> ?Cardiomyopathy, dilated, 1OO </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/620247"> 620247 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606747"> VEZF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606747"> 606747 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/118?start=-3&limit=10&highlight=118"> 18q12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612877"> Cardiomyopathy, dilated, 1BB </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/612877"> 612877 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/125671"> DSG2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/125671"> 125671 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/332?start=-3&limit=10&highlight=332"> 19p13.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620203"> ?Cardiomyopathy, dilated, 2H </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/620203"> 620203 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601913"> GET3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601913"> 601913 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/1156?start=-3&limit=10&highlight=1156"> 19q13.42 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613286"> Cardiomyopathy, dilated, 1FF </a>
</span>
</td>
<td>
<span class="mim-font">
</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/613286"> 613286 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191044"> TNNI3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191044"> 191044 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/1156?start=-3&limit=10&highlight=1156"> 19q13.42 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611880"> ?Cardiomyopathy, dilated, 2A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/611880"> 611880 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191044"> TNNI3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191044"> 191044 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/309?start=-3&limit=10&highlight=309"> 20q13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619492"> Cardiomyopathy, dilated, 2E </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/619492"> 619492 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605267"> JPH2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605267"> 605267 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/150?start=-3&limit=10&highlight=150"> Xp21.2-p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302045"> Cardiomyopathy, dilated, 3B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked">XL</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/302045"> 302045 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300377"> DMD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300377"> 300377 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
</span>
</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1BB (CMD1BB) is caused by homozygous mutation in the desmoglein-2 gene (DSG2; <a href="/entry/125671">125671</a>) on chromosome 18q12.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Description</strong>
</span>
</h4>
</div>
<div id="mimDescriptionFold" class="collapse in ">
<span class="mim-text-font">
<p>Dilated cardiomyopathy-1BB (CMD1BB) is a life-threatening, intractable disease characterized by ventricular dilation and thinning (<a href="#2" class="mim-tip-reference" title="Shiba, M., Higo, S., Kondo, T., Li, J., Liu, L., Ikeda, Y., Kohama, Y., Kameda, S., Tabata, T., Inoue, H., Nakamura, S., Takeda, M., Ito, E., Takashima, S., Miyagawa, S., Sawa, Y., Hikoso, S., Sakata, Y. &lt;strong&gt;Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes.&lt;/strong&gt; Hum. Molec. Genet. 30: 1384-1397, 2021.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33949662/&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;33949662&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=33949662[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddab127&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="33949662">Shiba et al., 2021</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33949662" 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 a phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (<a href="/entry/115200">115200</a>).</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Clinical Features</strong>
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</h4>
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<span class="mim-text-font">
<p><a href="#2" class="mim-tip-reference" title="Shiba, M., Higo, S., Kondo, T., Li, J., Liu, L., Ikeda, Y., Kohama, Y., Kameda, S., Tabata, T., Inoue, H., Nakamura, S., Takeda, M., Ito, E., Takashima, S., Miyagawa, S., Sawa, Y., Hikoso, S., Sakata, Y. &lt;strong&gt;Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes.&lt;/strong&gt; Hum. Molec. Genet. 30: 1384-1397, 2021.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33949662/&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;33949662&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=33949662[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddab127&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="33949662">Shiba et al. (2021)</a> reported a patient with a homozygous nonsense mutation in the DSG2 gene (<a href="/entry/125671#0010">125671.0010</a>) who was diagnosed with a dilated heart, reduced left ventricular contraction, and high pulmonary wedge pressure at 15 years of age. Electrocardiogram at 21 years of age showed premature ventricular contractions and an intraventricular conduction disturbance. Due to uncontrollable ventricular tachycardia, he had a ventricular assist device placed at age 28. Cardiac tissue from the patient demonstrated diffuse fibrosis, cardiomyocyte size variation, intracellular vacuolated structures, and absence of desmoglein-2 staining in intercalated discs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33949662" 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 />
</div>
</div>
<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>
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</h4>
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<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>In a man with dilated cardiomyopathy who had severely decreased cardiac function and underwent cardiac transplantation at 44 years of age, <a href="#1" class="mim-tip-reference" title="Posch, M.G., Posch, M. J., Geier, C., Erdmann, B., Mueller, W., Richter, A., Ruppert, V., Pankuweit, S., Maisch, B., Perrot, A., Buttgereit, J., Dietz, R., Haverkamp, W., Ozcelik, C. &lt;strong&gt;A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.&lt;/strong&gt; Molec. Genet. Metab. 95: 74-80, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18678517/&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;18678517&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2008.06.005&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="18678517">Posch et al. (2008)</a> identified homozygosity for a missense mutation in the DSG2 gene (V55M; <a href="/entry/125671#0009">125671.0009</a>). The proband's father, who had less severe disease with a later onset, was heterozygous for the mutation, as was his asymptomatic mother; his paternal grandfather had died of heart failure at 57 years of age. The proband had no abnormalities of skin or hair. <a href="#1" class="mim-tip-reference" title="Posch, M.G., Posch, M. J., Geier, C., Erdmann, B., Mueller, W., Richter, A., Ruppert, V., Pankuweit, S., Maisch, B., Perrot, A., Buttgereit, J., Dietz, R., Haverkamp, W., Ozcelik, C. &lt;strong&gt;A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.&lt;/strong&gt; Molec. Genet. Metab. 95: 74-80, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18678517/&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;18678517&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2008.06.005&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="18678517">Posch et al. (2008)</a> subsequently screened 538 CMD patients for the DSG2 V55M variant and identified 13 unrelated carriers (2.4%); the variant was also found in 1 (0.23%) of 432 individuals without CMD (p less than 0.006). In a total of 1,228 cases and controls, the authors found significant association between the DSG2 V55M variant and CMD (p less than 0.007). Immunostaining and electron microscopy of explanted left ventricular wall myocardium from the homozygous proband revealed pale, irregularly shaped intercalated discs with an indistinct inner structure and significantly shorter desmosomes compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18678517" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Shiba, M., Higo, S., Kondo, T., Li, J., Liu, L., Ikeda, Y., Kohama, Y., Kameda, S., Tabata, T., Inoue, H., Nakamura, S., Takeda, M., Ito, E., Takashima, S., Miyagawa, S., Sawa, Y., Hikoso, S., Sakata, Y. &lt;strong&gt;Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes.&lt;/strong&gt; Hum. Molec. Genet. 30: 1384-1397, 2021.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33949662/&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;33949662&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=33949662[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddab127&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="33949662">Shiba et al. (2021)</a> identified a homozygous nonsense mutation in the DSG2 gene (R119X; <a href="/entry/125671#0010">125671.0010</a>) in a patient with CMD1BB. Both parents were heterozygous for the mutation and asymptomatic. Cardiac tissue from the patient demonstrated diffuse fibrosis and cardiomyocyte size variation, and immunohistochemical analysis revealed absence of desmoglein-2 in intercalated discs. Immunostaining in induced pluripotent stem cells (iPSCs) derived from the patient demonstrated absence of desmoglein-2 protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33949662" 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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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Posch2008" class="mim-anchor"></a>
<div class="">
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Posch, M.G., Posch, M. J., Geier, C., Erdmann, B., Mueller, W., Richter, A., Ruppert, V., Pankuweit, S., Maisch, B., Perrot, A., Buttgereit, J., Dietz, R., Haverkamp, W., Ozcelik, C.
<strong>A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.</strong>
Molec. Genet. Metab. 95: 74-80, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18678517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18678517</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18678517" 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/j.ymgme.2008.06.005" target="_blank">Full Text</a>]
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<a id="Shiba2021" class="mim-anchor"></a>
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Shiba, M., Higo, S., Kondo, T., Li, J., Liu, L., Ikeda, Y., Kohama, Y., Kameda, S., Tabata, T., Inoue, H., Nakamura, S., Takeda, M., Ito, E., Takashima, S., Miyagawa, S., Sawa, Y., Hikoso, S., Sakata, Y.
<strong>Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes.</strong>
Hum. Molec. Genet. 30: 1384-1397, 2021.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33949662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33949662</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33949662[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33949662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddab127" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 04/21/2022
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Marla J. F. O&#x27;Neill : 6/26/2009
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carol : 05/03/2022
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carol : 04/22/2022<br>carol : 04/22/2022<br>carol : 04/21/2022<br>carol : 02/22/2022<br>wwang : 06/30/2009<br>wwang : 6/26/2009
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<strong>#</strong> 612877
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CARDIOMYOPATHY, DILATED, 1BB; CMD1BB
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<strong>ORPHA:</strong> 154; &nbsp;
<strong>DO:</strong> 0110458; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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18q12.1
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Cardiomyopathy, dilated, 1BB
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612877
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Autosomal recessive
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3
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DSG2
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125671
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1BB (CMD1BB) is caused by homozygous mutation in the desmoglein-2 gene (DSG2; 125671) on chromosome 18q12.</p>
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<strong>Description</strong>
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<p>Dilated cardiomyopathy-1BB (CMD1BB) is a life-threatening, intractable disease characterized by ventricular dilation and thinning (Shiba et al., 2021). </p><p>For a phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200).</p>
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<strong>Clinical Features</strong>
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<p>Shiba et al. (2021) reported a patient with a homozygous nonsense mutation in the DSG2 gene (125671.0010) who was diagnosed with a dilated heart, reduced left ventricular contraction, and high pulmonary wedge pressure at 15 years of age. Electrocardiogram at 21 years of age showed premature ventricular contractions and an intraventricular conduction disturbance. Due to uncontrollable ventricular tachycardia, he had a ventricular assist device placed at age 28. Cardiac tissue from the patient demonstrated diffuse fibrosis, cardiomyocyte size variation, intracellular vacuolated structures, and absence of desmoglein-2 staining in intercalated discs. </p>
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<strong>Molecular Genetics</strong>
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<p>In a man with dilated cardiomyopathy who had severely decreased cardiac function and underwent cardiac transplantation at 44 years of age, Posch et al. (2008) identified homozygosity for a missense mutation in the DSG2 gene (V55M; 125671.0009). The proband's father, who had less severe disease with a later onset, was heterozygous for the mutation, as was his asymptomatic mother; his paternal grandfather had died of heart failure at 57 years of age. The proband had no abnormalities of skin or hair. Posch et al. (2008) subsequently screened 538 CMD patients for the DSG2 V55M variant and identified 13 unrelated carriers (2.4%); the variant was also found in 1 (0.23%) of 432 individuals without CMD (p less than 0.006). In a total of 1,228 cases and controls, the authors found significant association between the DSG2 V55M variant and CMD (p less than 0.007). Immunostaining and electron microscopy of explanted left ventricular wall myocardium from the homozygous proband revealed pale, irregularly shaped intercalated discs with an indistinct inner structure and significantly shorter desmosomes compared to wildtype. </p><p>Shiba et al. (2021) identified a homozygous nonsense mutation in the DSG2 gene (R119X; 125671.0010) in a patient with CMD1BB. Both parents were heterozygous for the mutation and asymptomatic. Cardiac tissue from the patient demonstrated diffuse fibrosis and cardiomyocyte size variation, and immunohistochemical analysis revealed absence of desmoglein-2 in intercalated discs. Immunostaining in induced pluripotent stem cells (iPSCs) derived from the patient demonstrated absence of desmoglein-2 protein. </p>
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<strong>REFERENCES</strong>
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</h4>
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<p />
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<li>
<p class="mim-text-font">
Posch, M.G., Posch, M. J., Geier, C., Erdmann, B., Mueller, W., Richter, A., Ruppert, V., Pankuweit, S., Maisch, B., Perrot, A., Buttgereit, J., Dietz, R., Haverkamp, W., Ozcelik, C.
<strong>A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.</strong>
Molec. Genet. Metab. 95: 74-80, 2008.
[PubMed: 18678517]
[Full Text: https://doi.org/10.1016/j.ymgme.2008.06.005]
</p>
</li>
<li>
<p class="mim-text-font">
Shiba, M., Higo, S., Kondo, T., Li, J., Liu, L., Ikeda, Y., Kohama, Y., Kameda, S., Tabata, T., Inoue, H., Nakamura, S., Takeda, M., Ito, E., Takashima, S., Miyagawa, S., Sawa, Y., Hikoso, S., Sakata, Y.
<strong>Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes.</strong>
Hum. Molec. Genet. 30: 1384-1397, 2021.
[PubMed: 33949662]
[Full Text: https://doi.org/10.1093/hmg/ddab127]
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Contributors:
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Hilary J. Vernon - updated : 04/21/2022
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Marla J. F. O&#x27;Neill : 6/26/2009
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carol : 05/03/2022<br>carol : 04/22/2022<br>carol : 04/22/2022<br>carol : 04/21/2022<br>carol : 02/22/2022<br>wwang : 06/30/2009<br>wwang : 6/26/2009
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