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<title>
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Entry
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- #611788 - AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6
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- OMIM
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<span class="h4">#611788</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS607086"> <strong>Phenotypic Series</strong> </a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</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><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12138&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1120/" 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.ncbi.nlm.nih.gov/gtr/all/tests/?term=611788[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=91387" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:14004" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/611788" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:14004" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</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.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 91387<br />
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<strong>DO:</strong> 14004<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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611788
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</span>
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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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AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6
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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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<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>
|
|
<span class="mim-font">
|
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FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
|
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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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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
|
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</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>
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<span class="mim-font">
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<a href="/geneMap/10/376?start=-3&limit=10&highlight=376">
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10q23.31
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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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Aortic aneurysm, familial thoracic 6
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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/611788"> 611788 </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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ACTA2
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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/102620"> 102620 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/611788" 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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|
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<a href="/phenotypicSeries/PS607086" 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">
|
|
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/611788" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/611788" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
|
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</div>
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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
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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>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Thoracic aortic aneurysm <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/433068007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">433068007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74883004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74883004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I71.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I71.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I71.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I71.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/441.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">441.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162872&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162872</a>, <a href="https://bioportal.bioontology.org/search?q=C3251816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3251816</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012727" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012727</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012727" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012727</a>]</span><br /> -
|
|
Ascending aortic aneurysm <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/425963007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">425963007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0856747&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0856747</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004970" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004970</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004970" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004970</a>]</span><br /> -
|
|
Aortic dissection (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/308546005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">308546005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I71.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I71.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I71.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I71.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/441.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">441.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0340643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0340643</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002647" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002647</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002647" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002647</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Range of onset 3-79 years of age<br />
|
|
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
|
|
|
</div>
|
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|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the alpha-2 actin gene (ACTA2, <a href="/entry/102620#0001">102620.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<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>
|
|
Aortic aneurysm, familial thoracic
|
|
- <a href="/phenotypicSeries/PS607086">PS607086</a>
|
|
- 12 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/1/595?start=-3&limit=10&highlight=595"> 1p33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617349"> {Aortic aneurysm, familial thoracic 11, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617349"> 617349 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601094"> FOXE3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601094"> 601094 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/135?start=-3&limit=10&highlight=135"> 3p24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610168"> Loeys-Dietz syndrome 2 </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/610168"> 610168 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/190182"> TGFBR2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
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<a href="/entry/190182"> 190182 </a>
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<a href="/entry/613780"> Aortic aneurysm, familial thoracic 7 </a>
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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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<a href="/entry/613780"> 613780 </a>
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<a href="/entry/600922"> MYLK </a>
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<a href="/entry/607087"> Aortic aneurysm, familial thoracic 2 </a>
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<a href="/entry/607087"> AAT2 </a>
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<a href="/entry/607087"> 607087 </a>
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<a href="/geneMap/5/397?start=-3&limit=10&highlight=397"> 5q23.1 </a>
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<span class="mim-font">
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<a href="/entry/617168"> Aortic aneurysm, familial thoracic 10 </a>
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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/617168"> 617168 </a>
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<span class="mim-font">
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<a href="/entry/153455"> LOX </a>
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<a href="/entry/153455"> 153455 </a>
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<a href="/geneMap/9/355?start=-3&limit=10&highlight=355"> 9q22.33 </a>
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<span class="mim-font">
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<a href="/entry/609192"> Loeys-Dietz syndrome 1 </a>
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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/609192"> 609192 </a>
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<span class="mim-font">
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<a href="/entry/190181"> TGFBR1 </a>
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<span class="mim-font">
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<a href="/entry/190181"> 190181 </a>
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<span class="mim-font">
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<a href="/geneMap/10/200?start=-3&limit=10&highlight=200"> 10q11.23-q21.1 </a>
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<span class="mim-font">
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<a href="/entry/615436"> Aortic aneurysm, familial thoracic 8 </a>
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</span>
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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/615436"> 615436 </a>
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<span class="mim-font">
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<a href="/entry/176894"> PRKG1 </a>
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<span class="mim-font">
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<a href="/entry/176894"> 176894 </a>
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<a href="/geneMap/10/376?start=-3&limit=10&highlight=376"> 10q23.31 </a>
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<span class="mim-font">
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<a href="/entry/611788"> Aortic aneurysm, familial thoracic 6 </a>
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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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<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/611788"> 611788 </a>
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<span class="mim-font">
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<a href="/entry/102620"> ACTA2 </a>
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<span class="mim-font">
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<a href="/entry/102620"> 102620 </a>
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<span class="mim-font">
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<a href="/geneMap/11/951?start=-3&limit=10&highlight=951"> 11q23.3-q24 </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/607086"> Aortic aneurysm, familial thoracic 1 </a>
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<span class="mim-font">
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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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<span class="mim-font">
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<a href="/entry/607086"> 607086 </a>
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<span class="mim-font">
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<a href="/entry/607086"> AAT1 </a>
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<span class="mim-font">
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<a href="/entry/607086"> 607086 </a>
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<span class="mim-font">
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<a href="/entry/616166"> Aortic aneurysm, familial thoracic 9 </a>
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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/616166"> 616166 </a>
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<span class="mim-font">
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<a href="/entry/601103"> MFAP5 </a>
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<span class="mim-font">
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<a href="/entry/601103"> 601103 </a>
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<a href="/geneMap/15/345?start=-3&limit=10&highlight=345"> 15q23 </a>
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<span class="mim-font">
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<a href="/entry/619825"> Aortic aneurysm, familial thoracic 12 </a>
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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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<a href="/entry/619825"> 619825 </a>
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<a href="/entry/614476"> THSD4 </a>
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<span class="mim-font">
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<a href="/entry/614476"> 614476 </a>
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<a href="/geneMap/16/220?start=-3&limit=10&highlight=220"> 16p13.11 </a>
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<span class="mim-font">
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<a href="/entry/132900"> Aortic aneurysm, familial thoracic 4 </a>
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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/132900"> 132900 </a>
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<span class="mim-font">
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<a href="/entry/160745"> MYH11 </a>
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<span class="mim-font">
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<a href="/entry/160745"> 160745 </a>
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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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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because thoracic aortic aneurysm-6 (AAT6) is caused by heterozygous mutation in the ACTA2 gene (<a href="/entry/102620">102620</a>), encoding vascular smooth muscle actin, on chromosome 10q23.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of familial thoracic aortic aneurysm, see <a href="/entry/607086">607086</a>.</p><p>See also moyamoya disease-5 (MYMY5; <a href="/entry/614042">614042</a>) and multisystemic smooth muscle dysfunction syndrome (MSMDS; <a href="/entry/613834">613834</a>), which can also be caused by mutation in the ACTA2 gene.</p>
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<strong>Clinical Features</strong>
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<p><a href="#2" class="mim-tip-reference" title="Guo, D.-C., Pannu, H., Tran-Fadulu, V., Papke, C. L., Yu, R. K., Avidan, N., Bourgeois, S., Estrera, A. L., Safi, H. J., Sparks, E., Amor, D., Ades, L., and 13 others. <strong>Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.</strong> Nature Genet. 39: 1488-1493, 2007. Note: Erratum: Nature Genet. 40: 255 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17994018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17994018</a>] [<a href="https://doi.org/10.1038/ng.2007.6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17994018">Guo et al. (2007)</a> identified a large family with autosomal dominant inheritance, with decreased penetrance, of thoracic aortic aneurysms leading to acute aortic dissections (TAAD). Segregation of the disorder was not linked to any known locus. On examination, the only physical feature present in all family members was pronounced and persistent livedo reticularis (see <a href="/entry/182410">182410</a>), a purplish skin discoloration in a network pattern due to constriction or occlusion of deep dermal capillaries, clearly visible on arms and legs. In other families with a similar phenotype, iris flocculi was also present. Patent ductus arteriosus (PDA) was present in 6 affected individuals from 2 families, and bicuspid aortic valve (BAV) in 4 individuals from 3 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17994018" 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>The majority of individuals with AAT6 studied by <a href="#2" class="mim-tip-reference" title="Guo, D.-C., Pannu, H., Tran-Fadulu, V., Papke, C. L., Yu, R. K., Avidan, N., Bourgeois, S., Estrera, A. L., Safi, H. J., Sparks, E., Amor, D., Ades, L., and 13 others. <strong>Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.</strong> Nature Genet. 39: 1488-1493, 2007. Note: Erratum: Nature Genet. 40: 255 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17994018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17994018</a>] [<a href="https://doi.org/10.1038/ng.2007.6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17994018">Guo et al. (2007)</a> presented with acute ascending (type A) or descending (type B) aortic dissections, and 16 of the 24 deaths were due to type A dissections. Two individuals experienced type A dissections with documented ascending aortic diameters at 4.5 and 4.6 cm, whereas 11 individuals dissected at aortic diameters greater than 5.0 cm. Aortic dissections occurred in 3 individuals under 20 years of age, and 2 women died of dissections postpartum. In 3 young men, type B dissection complicated by rupture or aneurysm formation occurred at the ages of 13, 16, and 21 years. Despite the young age of death of some family members, the Kaplan-Meier survival curve of the cohort estimated a median survival of 67 years, suggesting that the disease is less deadly than Loeys-Dietz syndrome (see <a href="/entry/609192">609192</a>) and similar to treated Marfan syndrome (MFS; <a href="/entry/154700">154700</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17994018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bixler, D., Antley, R. M. <strong>Familial aortic dissection with iris anomalies--a new connective tissue disease syndrome?</strong> Birth Defects Orig. Art. Ser. XII(5): 229-234, 1976."None>Bixler and Antley (1976)</a> reported an association of familial aortic dissection and ectopia of the pigment layer of the iris onto the anterior surface of the iris. In 1 patient this created an appearance suggesting coloboma. <a href="#6" class="mim-tip-reference" title="McKusick, V. A. <strong>Personal Communication.</strong> Baltimore, Md. 6/4/1986."None>McKusick (1986)</a> observed a similar eye finding in a family seen with Dr. Robert L. Berger in the Moore Clinic. <a href="#5" class="mim-tip-reference" title="Lewis, R. A., Merin, L. M. <strong>Iris flocculi and familial aortic dissection.</strong> Arch. Ophthal. 113: 1330-1331, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7575269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7575269</a>] [<a href="https://doi.org/10.1001/archopht.1995.01100100118041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7575269">Lewis and Merin (1995)</a> noted the association of livedo reticularis and iris flocculi with familial thoracic aortic aneurysms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7575269" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a retrospective study of medical records, <a href="#7" class="mim-tip-reference" title="Regalado, E. S., Guo, D., Estrera, A. L., Buja, L. M., Milewicz, D. M. <strong>Acute aortic dissections with pregnancy in women with ACTA2 mutations.</strong> Am. J. Med. Genet. 164A: 106-112, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24243736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24243736</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24243736[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.36208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24243736">Regalado et al. (2014)</a> identified 53 women with ACTA2 mutations who had a total of 137 pregnancies. Eight women (6% of pregnancies) had aortic dissections during the third trimester or postpartum period (6-14 days after delivery). Three dissections were fatal. One woman had a myocardial infarction during pregnancy, independent of her aortic dissection. Six women had a family history of aortic dissection, and 5 had hypertension before or during the pregnancy. Three dissections occurred with aortic diameters of less than 5 cm. Aortic pathology showed that dissection occurred with minimal medial degeneration and with increased proteoglycan accumulation. <a href="#7" class="mim-tip-reference" title="Regalado, E. S., Guo, D., Estrera, A. L., Buja, L. M., Milewicz, D. M. <strong>Acute aortic dissections with pregnancy in women with ACTA2 mutations.</strong> Am. J. Med. Genet. 164A: 106-112, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24243736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24243736</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24243736[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.36208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24243736">Regalado et al. (2014)</a> concluded that pregnancy in women with ACTA2 mutations is associated with an increased risk of aortic dissection with minimal aortic dilatation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24243736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using genomewide linkage analysis followed by typing of microsatellite markers, <a href="#2" class="mim-tip-reference" title="Guo, D.-C., Pannu, H., Tran-Fadulu, V., Papke, C. L., Yu, R. K., Avidan, N., Bourgeois, S., Estrera, A. L., Safi, H. J., Sparks, E., Amor, D., Ades, L., and 13 others. <strong>Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.</strong> Nature Genet. 39: 1488-1493, 2007. Note: Erratum: Nature Genet. 40: 255 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17994018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17994018</a>] [<a href="https://doi.org/10.1038/ng.2007.6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17994018">Guo et al. (2007)</a> mapped the phenotype in a family with TAAD and livedo reticularis to chromosome 10q23-q24. The authors designated this locus TAAD4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17994018" 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 a family with thoracic aortic aneurysms and dissections and livedo reticularis linked to 10q23-q24, <a href="#2" class="mim-tip-reference" title="Guo, D.-C., Pannu, H., Tran-Fadulu, V., Papke, C. L., Yu, R. K., Avidan, N., Bourgeois, S., Estrera, A. L., Safi, H. J., Sparks, E., Amor, D., Ades, L., and 13 others. <strong>Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.</strong> Nature Genet. 39: 1488-1493, 2007. Note: Erratum: Nature Genet. 40: 255 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17994018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17994018</a>] [<a href="https://doi.org/10.1038/ng.2007.6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17994018">Guo et al. (2007)</a> identified a heterozygous mutation in the ACTA2 gene (R149C; <a href="/entry/102620#0001">102620.0001</a>). The mutation segregated with livedo reticularis in the family with a lod score of 5.85. These results suggested that the R149C ACTA2 mutation was responsible for both thoracic aortic aneurysm and livedo reticularis in this family. Sequencing of the ACTA2 gene in 97 unrelated families with a similar phenotype identified 14 additional families with ACTA2 mutations. A total of 5 families carried the R149C mutation, which was shown by haplotype analysis to have arisen de novo in each. The authors commented that another form of thoracic aortic aneurysm with dissection (AAT4; <a href="/entry/132900">132900</a>), caused by mutations in another component of the smooth muscle cell contractile unit, MYH11 (<a href="/entry/160745">160745</a>), is also associated with PDA in some affected individuals. Structural analyses and immunofluorescence of actin filaments in smooth muscle cells (SMCs) derived from individuals heterozygous for ACTA2 mutations illustrated that these mutations interfere with actin filament assembly and are predicted to decrease SMC contraction. Aortic tissues from affected individuals showed aortic medial degeneration, focal areas of medial SMC hyperplasia and disarray, and stenotic arteries in the vasa vasorum due to medial SMC proliferation. These data, along with the previously reported MYH11 mutations causing familial thoracic aortic aneurysm, indicated the importance of SMC contraction in maintaining the structural integrity of the ascending aorta. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17994018" 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="Guo, D.-C., Papke, C. L., Tran-Fadulu, V., Regalado, E. S., Avidan, N., Johnson, R. J., Kim, D. H., Pannu, H., Willing, M. C., Sparks, E., Pyeritz, R. E., Singh, M. N., and 19 others. <strong>Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.</strong> Am. J. Hum. Genet. 84: 617-627, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19409525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19409525</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19409525[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.04.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19409525">Guo et al. (2009)</a> studied 20 families with 127 members harboring heterozygous ACTA2 mutations and phenotyped them for premature vascular disease, defined as an age of onset less than 55 years in men and less than 60 years in women. Thoracic aortic aneurysm had been reported in 14 of these 20 families by <a href="#2" class="mim-tip-reference" title="Guo, D.-C., Pannu, H., Tran-Fadulu, V., Papke, C. L., Yu, R. K., Avidan, N., Bourgeois, S., Estrera, A. L., Safi, H. J., Sparks, E., Amor, D., Ades, L., and 13 others. <strong>Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.</strong> Nature Genet. 39: 1488-1493, 2007. Note: Erratum: Nature Genet. 40: 255 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17994018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17994018</a>] [<a href="https://doi.org/10.1038/ng.2007.6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17994018">Guo et al. (2007)</a>. Thoracic aortic aneurysm was the primary vascular disease in ACTA2 mutation carriers (76 individuals); 26 individuals had premature onset of coronary artery disease, and 15 had ischemic strokes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17994018+19409525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 40 German probands with thoracic aortic aneurysms, 21 of whom had clinical features suggestive of Marfan syndrome, but all of whom were negative for mutation in the FBN1 (<a href="/entry/134797">134797</a>) and TGFBR2 (<a href="/entry/190182">190182</a>) genes, <a href="#4" class="mim-tip-reference" title="Hoffjan, S., Waldmuller, S., Blankenfeldt, W., Kotting, J., Gehle, P., Binner, P., Epplen, J. T., Scheffold, T. <strong>Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.</strong> Europ. J. Hum. Genet. 19: 520-524, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21248741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21248741</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21248741[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21248741">Hoffjan et al. (2011)</a> sequenced the ACTA2 gene and identified heterozygous mutations in 3 patients (see, e.g., <a href="/entry/102620#0005">102620.0005</a> and <a href="/entry/102620#0006">102620.0006</a>). None of the 21 individuals with features suggestive of MFS were found to carry a mutation in ACTA2. Among the remaining 19 patients, there were no differences between the 3 patients with ACTA2 mutations and the nonmutated patients. The authors also noted that there was no history of premature stroke or coronary artery disease in the mutation-positive families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21248741" 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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Birth Defects Orig. Art. Ser. XII(5): 229-234, 1976.
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Guo, D.-C., Pannu, H., Tran-Fadulu, V., Papke, C. L., Yu, R. K., Avidan, N., Bourgeois, S., Estrera, A. L., Safi, H. J., Sparks, E., Amor, D., Ades, L., and 13 others.
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<strong>Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.</strong>
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Nature Genet. 39: 1488-1493, 2007. Note: Erratum: Nature Genet. 40: 255 only, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17994018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17994018</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17994018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Guo, D.-C., Papke, C. L., Tran-Fadulu, V., Regalado, E. S., Avidan, N., Johnson, R. J., Kim, D. H., Pannu, H., Willing, M. C., Sparks, E., Pyeritz, R. E., Singh, M. N., and 19 others.
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<strong>Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.</strong>
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Am. J. Hum. Genet. 84: 617-627, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19409525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19409525</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19409525[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=19409525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.</strong>
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Europ. J. Hum. Genet. 19: 520-524, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21248741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21248741</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21248741[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=21248741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2010.239" target="_blank">Full Text</a>]
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Lewis, R. A., Merin, L. M.
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<strong>Iris flocculi and familial aortic dissection.</strong>
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Arch. Ophthal. 113: 1330-1331, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7575269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7575269</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7575269" 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/10.1001/archopht.1995.01100100118041" target="_blank">Full Text</a>]
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McKusick, V. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 6/4/1986.
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Regalado, E. S., Guo, D., Estrera, A. L., Buja, L. M., Milewicz, D. M.
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<strong>Acute aortic dissections with pregnancy in women with ACTA2 mutations.</strong>
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Am. J. Med. Genet. 164A: 106-112, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24243736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24243736</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24243736[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=24243736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.36208" target="_blank">Full Text</a>]
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Ingrid M. Wentzensen - updated : 6/4/2014
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Marla J. F. O'Neill - updated : 9/24/2013<br>Ada Hamosh - updated : 10/6/2009
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Victor A. McKusick : 2/12/2008
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carol : 11/02/2021
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carol : 01/06/2015<br>carol : 6/5/2014<br>mcolton : 6/4/2014<br>carol : 9/24/2013<br>carol : 5/30/2012<br>wwang : 6/27/2011<br>ckniffin : 6/14/2011<br>alopez : 10/12/2009<br>terry : 10/6/2009<br>carol : 7/3/2008<br>alopez : 6/24/2008
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<strong>#</strong> 611788
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AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6
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FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
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<strong>ORPHA:</strong> 91387;
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<strong>DO:</strong> 14004;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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10q23.31
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Aortic aneurysm, familial thoracic 6
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611788
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Autosomal dominant
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ACTA2
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102620
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<p>A number sign (#) is used with this entry because thoracic aortic aneurysm-6 (AAT6) is caused by heterozygous mutation in the ACTA2 gene (102620), encoding vascular smooth muscle actin, on chromosome 10q23.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of familial thoracic aortic aneurysm, see 607086.</p><p>See also moyamoya disease-5 (MYMY5; 614042) and multisystemic smooth muscle dysfunction syndrome (MSMDS; 613834), which can also be caused by mutation in the ACTA2 gene.</p>
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<p>Guo et al. (2007) identified a large family with autosomal dominant inheritance, with decreased penetrance, of thoracic aortic aneurysms leading to acute aortic dissections (TAAD). Segregation of the disorder was not linked to any known locus. On examination, the only physical feature present in all family members was pronounced and persistent livedo reticularis (see 182410), a purplish skin discoloration in a network pattern due to constriction or occlusion of deep dermal capillaries, clearly visible on arms and legs. In other families with a similar phenotype, iris flocculi was also present. Patent ductus arteriosus (PDA) was present in 6 affected individuals from 2 families, and bicuspid aortic valve (BAV) in 4 individuals from 3 families. </p><p>The majority of individuals with AAT6 studied by Guo et al. (2007) presented with acute ascending (type A) or descending (type B) aortic dissections, and 16 of the 24 deaths were due to type A dissections. Two individuals experienced type A dissections with documented ascending aortic diameters at 4.5 and 4.6 cm, whereas 11 individuals dissected at aortic diameters greater than 5.0 cm. Aortic dissections occurred in 3 individuals under 20 years of age, and 2 women died of dissections postpartum. In 3 young men, type B dissection complicated by rupture or aneurysm formation occurred at the ages of 13, 16, and 21 years. Despite the young age of death of some family members, the Kaplan-Meier survival curve of the cohort estimated a median survival of 67 years, suggesting that the disease is less deadly than Loeys-Dietz syndrome (see 609192) and similar to treated Marfan syndrome (MFS; 154700). </p><p>Bixler and Antley (1976) reported an association of familial aortic dissection and ectopia of the pigment layer of the iris onto the anterior surface of the iris. In 1 patient this created an appearance suggesting coloboma. McKusick (1986) observed a similar eye finding in a family seen with Dr. Robert L. Berger in the Moore Clinic. Lewis and Merin (1995) noted the association of livedo reticularis and iris flocculi with familial thoracic aortic aneurysms. </p><p>Using a retrospective study of medical records, Regalado et al. (2014) identified 53 women with ACTA2 mutations who had a total of 137 pregnancies. Eight women (6% of pregnancies) had aortic dissections during the third trimester or postpartum period (6-14 days after delivery). Three dissections were fatal. One woman had a myocardial infarction during pregnancy, independent of her aortic dissection. Six women had a family history of aortic dissection, and 5 had hypertension before or during the pregnancy. Three dissections occurred with aortic diameters of less than 5 cm. Aortic pathology showed that dissection occurred with minimal medial degeneration and with increased proteoglycan accumulation. Regalado et al. (2014) concluded that pregnancy in women with ACTA2 mutations is associated with an increased risk of aortic dissection with minimal aortic dilatation. </p>
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<strong>Mapping</strong>
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<p>Using genomewide linkage analysis followed by typing of microsatellite markers, Guo et al. (2007) mapped the phenotype in a family with TAAD and livedo reticularis to chromosome 10q23-q24. The authors designated this locus TAAD4. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In a family with thoracic aortic aneurysms and dissections and livedo reticularis linked to 10q23-q24, Guo et al. (2007) identified a heterozygous mutation in the ACTA2 gene (R149C; 102620.0001). The mutation segregated with livedo reticularis in the family with a lod score of 5.85. These results suggested that the R149C ACTA2 mutation was responsible for both thoracic aortic aneurysm and livedo reticularis in this family. Sequencing of the ACTA2 gene in 97 unrelated families with a similar phenotype identified 14 additional families with ACTA2 mutations. A total of 5 families carried the R149C mutation, which was shown by haplotype analysis to have arisen de novo in each. The authors commented that another form of thoracic aortic aneurysm with dissection (AAT4; 132900), caused by mutations in another component of the smooth muscle cell contractile unit, MYH11 (160745), is also associated with PDA in some affected individuals. Structural analyses and immunofluorescence of actin filaments in smooth muscle cells (SMCs) derived from individuals heterozygous for ACTA2 mutations illustrated that these mutations interfere with actin filament assembly and are predicted to decrease SMC contraction. Aortic tissues from affected individuals showed aortic medial degeneration, focal areas of medial SMC hyperplasia and disarray, and stenotic arteries in the vasa vasorum due to medial SMC proliferation. These data, along with the previously reported MYH11 mutations causing familial thoracic aortic aneurysm, indicated the importance of SMC contraction in maintaining the structural integrity of the ascending aorta. </p><p>Guo et al. (2009) studied 20 families with 127 members harboring heterozygous ACTA2 mutations and phenotyped them for premature vascular disease, defined as an age of onset less than 55 years in men and less than 60 years in women. Thoracic aortic aneurysm had been reported in 14 of these 20 families by Guo et al. (2007). Thoracic aortic aneurysm was the primary vascular disease in ACTA2 mutation carriers (76 individuals); 26 individuals had premature onset of coronary artery disease, and 15 had ischemic strokes. </p><p>In 40 German probands with thoracic aortic aneurysms, 21 of whom had clinical features suggestive of Marfan syndrome, but all of whom were negative for mutation in the FBN1 (134797) and TGFBR2 (190182) genes, Hoffjan et al. (2011) sequenced the ACTA2 gene and identified heterozygous mutations in 3 patients (see, e.g., 102620.0005 and 102620.0006). None of the 21 individuals with features suggestive of MFS were found to carry a mutation in ACTA2. Among the remaining 19 patients, there were no differences between the 3 patients with ACTA2 mutations and the nonmutated patients. The authors also noted that there was no history of premature stroke or coronary artery disease in the mutation-positive families. </p>
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<strong>REFERENCES</strong>
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Bixler, D., Antley, R. M.
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<strong>Familial aortic dissection with iris anomalies--a new connective tissue disease syndrome?</strong>
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Birth Defects Orig. Art. Ser. XII(5): 229-234, 1976.
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Guo, D.-C., Pannu, H., Tran-Fadulu, V., Papke, C. L., Yu, R. K., Avidan, N., Bourgeois, S., Estrera, A. L., Safi, H. J., Sparks, E., Amor, D., Ades, L., and 13 others.
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<strong>Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.</strong>
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Nature Genet. 39: 1488-1493, 2007. Note: Erratum: Nature Genet. 40: 255 only, 2008.
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[PubMed: 17994018]
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[Full Text: https://doi.org/10.1038/ng.2007.6]
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Guo, D.-C., Papke, C. L., Tran-Fadulu, V., Regalado, E. S., Avidan, N., Johnson, R. J., Kim, D. H., Pannu, H., Willing, M. C., Sparks, E., Pyeritz, R. E., Singh, M. N., and 19 others.
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<strong>Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.</strong>
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Am. J. Hum. Genet. 84: 617-627, 2009.
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[PubMed: 19409525]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.04.007]
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Hoffjan, S., Waldmuller, S., Blankenfeldt, W., Kotting, J., Gehle, P., Binner, P., Epplen, J. T., Scheffold, T.
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<strong>Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.</strong>
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Europ. J. Hum. Genet. 19: 520-524, 2011.
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[PubMed: 21248741]
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[Full Text: https://doi.org/10.1038/ejhg.2010.239]
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<li>
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<p class="mim-text-font">
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Lewis, R. A., Merin, L. M.
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<strong>Iris flocculi and familial aortic dissection.</strong>
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Arch. Ophthal. 113: 1330-1331, 1995.
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[PubMed: 7575269]
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[Full Text: https://doi.org/10.1001/archopht.1995.01100100118041]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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McKusick, V. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 6/4/1986.
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</li>
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Regalado, E. S., Guo, D., Estrera, A. L., Buja, L. M., Milewicz, D. M.
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<strong>Acute aortic dissections with pregnancy in women with ACTA2 mutations.</strong>
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Am. J. Med. Genet. 164A: 106-112, 2014.
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[PubMed: 24243736]
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[Full Text: https://doi.org/10.1002/ajmg.a.36208]
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