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<title>
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Entry
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- #132900 - AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4
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- OMIM
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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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<li role="presentation">
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<div><a href="https://clinicaltrials.gov/search?cond=(AORTIC ANEURYSM, FAMILIAL THORACIC) OR (MYH11)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=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.diseaseinfosearch.org/x/532" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=132900[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 style="display: table-cell;">Animal Models</div>
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</span>
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<div class="panel-body small mim-panel-body">
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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/132900" 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>
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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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<div>
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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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132900
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
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AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
FAA4<br />
|
|
AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS
|
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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>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/16/220?start=-3&limit=10&highlight=220">
|
|
16p13.11
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Aortic aneurysm, familial thoracic 4
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/132900"> 132900 </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">
|
|
MYH11
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160745"> 160745 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
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|
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/132900" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS607086" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<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')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/132900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/132900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</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>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</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">
|
|
|
|
- Aortic valve regurgitation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60234000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60234000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003504&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003504</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001659</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001659</a>]</span><br /> -
|
|
Left ventricular failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85232009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85232009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I50.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/428.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023212&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023212</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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Patent ductus arteriosus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83330001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83330001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/747.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013274&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013274</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</a>]</span><br /> -
|
|
Aneurysm, ascending aorta <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><br /> -
|
|
Dissection, ascending aorta (in some patients) <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I71.010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I71.010</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836653&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836653</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004933" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004933</a>]</span><br /> -
|
|
Aneurysm, descending aorta (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/426948001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">426948001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0856750&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0856750</a>]</span><br /> -
|
|
Dissection, descending aorta (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27651000146102" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27651000146102</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I71.012" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I71.012</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2062864&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2062864</a>]</span><br /> -
|
|
Carotid aneurysm, intracranial (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3549708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3549708</a>]</span><br /> -
|
|
Coronary artery disease (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414024009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414024009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/443502000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">443502000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53741008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53741008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I25.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K76.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K76.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I25.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I25.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/414.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">414.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1956346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1956346</a>, <a href="https://bioportal.bioontology.org/search?q=C0010054&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010054</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001677</a>]</span><br /> -
|
|
Peripheral vascular occlusive disease (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3549710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3549710</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Stroke (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230690007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230690007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I63.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I63.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038454&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038454</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001297</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001297</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </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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|
|
- Family history of sudden death, as early as fourth decade of life<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
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</span>
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</div>
|
|
<div style="margin-left: 2em;">
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<div>
|
|
<span class="mim-font">
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|
|
- Caused by mutation in the myosin heavy chain 11 gene (MYH11, <a href="/entry/160745#0001">160745.0001</a>)<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 class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
|
</div>
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|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<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>
|
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|
|
<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">
|
|
<a href="/entry/190182"> 190182 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/622?start=-3&limit=10&highlight=622"> 3q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613780"> Aortic aneurysm, familial thoracic 7 </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/613780"> 613780 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600922"> MYLK </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600922"> 600922 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/215?start=-3&limit=10&highlight=215"> 5q13-q14 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607087"> Aortic aneurysm, familial thoracic 2 </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/607087"> 607087 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607087"> AAT2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607087"> 607087 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/397?start=-3&limit=10&highlight=397"> 5q23.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617168"> Aortic aneurysm, familial thoracic 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/617168"> 617168 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/153455"> LOX </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/153455"> 153455 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/355?start=-3&limit=10&highlight=355"> 9q22.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609192"> Loeys-Dietz syndrome 1 </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/609192"> 609192 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/190181"> TGFBR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/190181"> 190181 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/200?start=-3&limit=10&highlight=200"> 10q11.23-q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615436"> Aortic aneurysm, familial thoracic 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/615436"> 615436 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176894"> PRKG1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176894"> 176894 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/376?start=-3&limit=10&highlight=376"> 10q23.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611788"> Aortic aneurysm, familial thoracic 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/611788"> 611788 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102620"> ACTA2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102620"> 102620 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/951?start=-3&limit=10&highlight=951"> 11q23.3-q24 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607086"> Aortic aneurysm, familial thoracic 1 </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/607086"> 607086 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607086"> AAT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607086"> 607086 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/115?start=-3&limit=10&highlight=115"> 12p13.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616166"> Aortic aneurysm, familial thoracic 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">
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<p>A number sign (#) is used with this entry because of evidence that this form of thoracic aortic aneurysm and/or aortic dissection with patent ductus arteriosus mapping to 16p13.13-p12.2 can be caused by mutations in the myosin heavy chain 11 gene (<a href="/entry/160745">160745</a>).</p><p>For a phenotypic description and a discussion of genetic heterogeneity of familial thoracic aortic aneurysm, see <a href="/entry/607086">607086</a>.</p>
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<p><a href="#1" class="mim-tip-reference" title="Glancy, D. L., Wegmann, M., Dhurandhar, R. W. <strong>Aortic dissection and patent ductus arteriosus in three generations.</strong> Am. J. Cardiol. 87: 813-815, 2001. Note: Erratum: Am. J. Cardiol. 87: 1438 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11249915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11249915</a>] [<a href="https://doi.org/10.1016/s0002-9149(00)01515-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11249915">Glancy et al. (2001)</a> reported 3 generations of a family in which 5 members had aortic dissection and/or patent ductus arteriosus (PDA; <a href="/entry/607411">607411</a>). The proband underwent repair of a symptomatic dissecting aortic aneurysm extending from the aortic valve to the innominate artery at age 51. She was later found to have an aortic dissection from the mid-thorax to just above the renal arteries that was treated conservatively, and she died of heart failure at age 67. A daughter of the proband, who had a PDA repaired at age 6, died at age 28 of an extensive dissection of the descending thoracic and abdominal aorta. One son was found to have a small PDA and an aneurysm extending from the aortic sinuses to the diaphragm at age 28, and underwent repair of both but died of left ventricular failure in the early postoperative period. Another son was found to have an aneurysm of the ascending aorta with areas of dissection, and at surgery underwent repair of a PDA and prosthetic replacement of a tricuspid aortic valve and of the ascending aorta. Histologic examination of aortic tissue from the 3 sibs revealed cystic medial necrosis in the first 2 cases and myxomatous degeneration in the latter. A granddaughter, offspring of the deceased son, was found to have PDA at age 7 months, underwent repair at 21 months, and had no evidence of aortic disease 10 years later. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11249915" 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="Khau Van Kien, P., Wolf, J.-E., Mathieu, F., Zhu, L., Salve, N., Lalande, A., Bonnet, C., Lesca, G., Plauchu, H., Dellinger, A., Nivelon-Chevallier, A., Brunotte, F., Jeunemaitre, X. <strong>Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.</strong> Europ. J. Hum. Genet. 12: 173-180, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14722581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14722581</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14722581">Khau Van Kien et al. (2004)</a> reported a French family composed of 179 members with an abnormally high occurrence of thoracic aortic aneurysm and aortic dissection. Of 40 members in 3 generations investigated, 16 were affected. In addition, 11 cases of patent ductus arteriosus were observed. Segregation analysis of the distribution of these vascular abnormalities was suggestive of a single genetic defect with an autosomal dominant pattern of inheritance. <a href="#3" class="mim-tip-reference" title="Khau Van Kien, P., Wolf, J.-E., Mathieu, F., Zhu, L., Salve, N., Lalande, A., Bonnet, C., Lesca, G., Plauchu, H., Dellinger, A., Nivelon-Chevallier, A., Brunotte, F., Jeunemaitre, X. <strong>Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.</strong> Europ. J. Hum. Genet. 12: 173-180, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14722581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14722581</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14722581">Khau Van Kien et al. (2004)</a> concluded that familial thoracic aortic aneurysm/dissection with PDA may be a distinct mendelian disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14722581" 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="Khau Van Kien, P., Mathieu, F., Zhu, L., Lalande, A., Betard, C., Lathrop, M., Brunotte, F., Wolf, J.-E., Jeunemaitre, X. <strong>Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13</strong> Circulation 112: 200-206, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15998682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15998682</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.104.506345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15998682">Khau Van Kien et al. (2005)</a> performed cine MRI in 42 asymptomatic members and 6 individuals with known aortic aneurysm/PDA from the French family reported by <a href="#3" class="mim-tip-reference" title="Khau Van Kien, P., Wolf, J.-E., Mathieu, F., Zhu, L., Salve, N., Lalande, A., Bonnet, C., Lesca, G., Plauchu, H., Dellinger, A., Nivelon-Chevallier, A., Brunotte, F., Jeunemaitre, X. <strong>Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.</strong> Europ. J. Hum. Genet. 12: 173-180, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14722581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14722581</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14722581">Khau Van Kien et al. (2004)</a>. All individuals bearing the disease haplotype, even asymptomatic, displayed a very low level of aortic compliance and distensibility, indicating that aortic stiffness is a subclinical and early manifestation of the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15998682+14722581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Khau Van Kien, P., Mathieu, F., Zhu, L., Lalande, A., Betard, C., Lathrop, M., Brunotte, F., Wolf, J.-E., Jeunemaitre, X. <strong>Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13</strong> Circulation 112: 200-206, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15998682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15998682</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.104.506345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15998682">Khau Van Kien et al. (2005)</a> performed a genomewide scan in 40 members from 3 generations of the French pedigree reported by <a href="#3" class="mim-tip-reference" title="Khau Van Kien, P., Wolf, J.-E., Mathieu, F., Zhu, L., Salve, N., Lalande, A., Bonnet, C., Lesca, G., Plauchu, H., Dellinger, A., Nivelon-Chevallier, A., Brunotte, F., Jeunemaitre, X. <strong>Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.</strong> Europ. J. Hum. Genet. 12: 173-180, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14722581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14722581</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14722581">Khau Van Kien et al. (2004)</a>. Initial analysis involving only the 7 thoracic aneurysm/dissection cases yielded a maximum lod score of 2.73 at theta = 0.0 on chromosome 16p at marker D16S3068; the lod score increased to 3.56 with inclusion of 5 PDA cases. A maximum lod score of 4.14 near marker D16S3103 was obtained with multipoint linkage analysis; fine mapping delimited a critical 20-cM interval at 16p13.13-p12.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15998682+14722581" 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>One of the genes in the critical linkage region on chromosome 16p identified by <a href="#3" class="mim-tip-reference" title="Khau Van Kien, P., Wolf, J.-E., Mathieu, F., Zhu, L., Salve, N., Lalande, A., Bonnet, C., Lesca, G., Plauchu, H., Dellinger, A., Nivelon-Chevallier, A., Brunotte, F., Jeunemaitre, X. <strong>Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.</strong> Europ. J. Hum. Genet. 12: 173-180, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14722581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14722581</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14722581">Khau Van Kien et al. (2004)</a> is MYH11 (<a href="/entry/160745">160745</a>), which encodes the smooth muscle myosin heavy chain, a major specific contractile protein produced in the smooth muscle cells. <a href="#5" class="mim-tip-reference" title="Zhu, L., Vranckx, R., Khau Van Kien, P., Lalande, A., Boisset, N., Mathieu, F., Wegman, M., Glancy, L., Gasc, J.-M., Brunotte, F., Bruneval, P., Wolf, J.-E., Michel, J.-B., Jeunemaitre, X. <strong>Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.</strong> Nature Genet. 38: 343-349, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16444274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16444274</a>] [<a href="https://doi.org/10.1038/ng1721" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16444274">Zhu et al. (2006)</a> reported systematic mutation screening of the MYH11 gene, which showed 2 heterozygous mutations affecting the same allele in the French kindred reported by <a href="#3" class="mim-tip-reference" title="Khau Van Kien, P., Wolf, J.-E., Mathieu, F., Zhu, L., Salve, N., Lalande, A., Bonnet, C., Lesca, G., Plauchu, H., Dellinger, A., Nivelon-Chevallier, A., Brunotte, F., Jeunemaitre, X. <strong>Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.</strong> Europ. J. Hum. Genet. 12: 173-180, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14722581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14722581</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14722581">Khau Van Kien et al. (2004)</a>. The first was a substitution of the splice donor site of intron 32 (IVS32+1G-T); the second was a transition in exon 37 resulting in an arg1758-to-gln (R1758Q) amino acid change (<a href="/entry/160745#0001">160745.0001</a>). Both mutations were identified in all subjects carrying the disease haplotype, but neither was found in 340 normal chromosomes. In the American kindred described by <a href="#1" class="mim-tip-reference" title="Glancy, D. L., Wegmann, M., Dhurandhar, R. W. <strong>Aortic dissection and patent ductus arteriosus in three generations.</strong> Am. J. Cardiol. 87: 813-815, 2001. Note: Erratum: Am. J. Cardiol. 87: 1438 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11249915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11249915</a>] [<a href="https://doi.org/10.1016/s0002-9149(00)01515-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11249915">Glancy et al. (2001)</a>, they detected a 72-nucleotide deletion within exon 28 of the MYH11 gene (<a href="/entry/160745#0002">160745.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14722581+11249915+16444274" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Pannu, H., Tran-Fadulu, V., Papke, C. L., Scherer, S., Liu, Y., Presley, C., Guo, D., Estrera, A. L., Safi, H. J., Brasier, A. R., Vick, G. W., Marian, A. J., Raman, C. S., Buja, L. M., Milewicz, D. M. <strong>MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II.</strong> Hum. Molec. Genet. 16: 2453-2462, 2007. Note: Erratum: Hum. Molec. Genet. 17: 158 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17666408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17666408</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17666408[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/10.1093/hmg/ddm201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17666408">Pannu et al. (2007)</a> sequenced the MYH11 gene in 3 probands from 3 families with nonsyndromic thoracic aortic aneurysm and dissection (TAAD) in which 1 or more members had patent ductus arteriosus (PDA) and in 93 probands from unrelated TAAD families without PDA, and identified 2 closely linked missense mutations in 1 of the 3 TAAD/PDA families (<a href="/entry/160745#0003">160745.0003</a> and <a href="/entry/160745#0004">160745.0004</a>) and a different missense mutation in another of the 3 TAAD/PDA families (<a href="/entry/160745#0005">160745.0005</a>). Histopathologic analysis of aortic sections from a mutation-positive individual from each family revealed smooth muscle cell (SMC) disarray and focal hyperplasia of SMCs in the aortic media, as well as SMC hyperplasia leading to significant lumen narrowing in some of the vessels of the adventitia. Insulin-like growth factor-1 (IGF1; <a href="/entry/147440">147440</a>) was upregulated and there was enhanced expression of markers of angiotensin II (<a href="/entry/106150">106150</a>) vascular inflammation in mutant aortas and explanted SMCs. <a href="#4" class="mim-tip-reference" title="Pannu, H., Tran-Fadulu, V., Papke, C. L., Scherer, S., Liu, Y., Presley, C., Guo, D., Estrera, A. L., Safi, H. J., Brasier, A. R., Vick, G. W., Marian, A. J., Raman, C. S., Buja, L. M., Milewicz, D. M. <strong>MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II.</strong> Hum. Molec. Genet. 16: 2453-2462, 2007. Note: Erratum: Hum. Molec. Genet. 17: 158 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17666408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17666408</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17666408[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/10.1093/hmg/ddm201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17666408">Pannu et al. (2007)</a> concluded that MYH11 mutations are likely to be specific to the phenotype of TAAD/PDA and to result in a distinct aortic and occlusive vascular pathology, potentially driven by IGF1 and angiotensin II. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17666408" 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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Glancy, D. L., Wegmann, M., Dhurandhar, R. W.
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<strong>Aortic dissection and patent ductus arteriosus in three generations.</strong>
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Am. J. Cardiol. 87: 813-815, 2001. Note: Erratum: Am. J. Cardiol. 87: 1438 only, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11249915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11249915</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11249915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0002-9149(00)01515-0" target="_blank">Full Text</a>]
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<a id="Khau Van Kien2005" class="mim-anchor"></a>
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Khau Van Kien, P., Mathieu, F., Zhu, L., Lalande, A., Betard, C., Lathrop, M., Brunotte, F., Wolf, J.-E., Jeunemaitre, X.
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<strong>Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13</strong>
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Circulation 112: 200-206, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15998682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15998682</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15998682" 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/10.1161/CIRCULATIONAHA.104.506345" target="_blank">Full Text</a>]
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Khau Van Kien, P., Wolf, J.-E., Mathieu, F., Zhu, L., Salve, N., Lalande, A., Bonnet, C., Lesca, G., Plauchu, H., Dellinger, A., Nivelon-Chevallier, A., Brunotte, F., Jeunemaitre, X.
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<strong>Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.</strong>
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Europ. J. Hum. Genet. 12: 173-180, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14722581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14722581</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14722581" 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/sj.ejhg.5201119" target="_blank">Full Text</a>]
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Pannu, H., Tran-Fadulu, V., Papke, C. L., Scherer, S., Liu, Y., Presley, C., Guo, D., Estrera, A. L., Safi, H. J., Brasier, A. R., Vick, G. W., Marian, A. J., Raman, C. S., Buja, L. M., Milewicz, D. M.
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<strong>MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II.</strong>
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Hum. Molec. Genet. 16: 2453-2462, 2007. Note: Erratum: Hum. Molec. Genet. 17: 158 only, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17666408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17666408</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17666408[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=17666408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddm201" target="_blank">Full Text</a>]
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Zhu, L., Vranckx, R., Khau Van Kien, P., Lalande, A., Boisset, N., Mathieu, F., Wegman, M., Glancy, L., Gasc, J.-M., Brunotte, F., Bruneval, P., Wolf, J.-E., Michel, J.-B., Jeunemaitre, X.
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<strong>Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.</strong>
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Nature Genet. 38: 343-349, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16444274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16444274</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16444274" 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/ng1721" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 12/1/2009
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Victor A. McKusick - updated : 2/27/2006<br>Marla J. F. O'Neill - updated : 2/24/2006<br>Marla J. F. O'Neill - updated : 4/30/2004<br>Paul Brennan - updated : 7/3/2002<br>Paul Brennan - edited : 7/3/2002
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Victor A. McKusick : 6/4/1986
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carol : 04/12/2013
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terry : 9/17/2012<br>wwang : 12/17/2009<br>terry : 12/1/2009<br>alopez : 6/24/2008<br>alopez : 3/6/2006<br>terry : 2/27/2006<br>alopez : 2/24/2006<br>alopez : 2/24/2006<br>carol : 10/13/2004<br>carol : 4/30/2004<br>carol : 11/25/2003<br>alopez : 7/10/2002<br>alopez : 7/3/2002<br>alopez : 7/3/2002<br>alopez : 7/3/2002<br>terry : 4/30/1999<br>carol : 1/3/1995<br>mimadm : 9/24/1994<br>davew : 6/27/1994<br>terry : 4/27/1994<br>warfield : 4/8/1994<br>pfoster : 3/31/1994
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FAA4<br />
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AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS
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<strong>ORPHA:</strong> 91387;
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<strong>DO:</strong> 14004;
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16p13.11
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Aortic aneurysm, familial thoracic 4
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132900
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Autosomal dominant
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3
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MYH11
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160745
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<p>A number sign (#) is used with this entry because of evidence that this form of thoracic aortic aneurysm and/or aortic dissection with patent ductus arteriosus mapping to 16p13.13-p12.2 can be caused by mutations in the myosin heavy chain 11 gene (160745).</p><p>For a phenotypic description and a discussion of genetic heterogeneity of familial thoracic aortic aneurysm, see 607086.</p>
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<strong>Clinical Features</strong>
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<p>Glancy et al. (2001) reported 3 generations of a family in which 5 members had aortic dissection and/or patent ductus arteriosus (PDA; 607411). The proband underwent repair of a symptomatic dissecting aortic aneurysm extending from the aortic valve to the innominate artery at age 51. She was later found to have an aortic dissection from the mid-thorax to just above the renal arteries that was treated conservatively, and she died of heart failure at age 67. A daughter of the proband, who had a PDA repaired at age 6, died at age 28 of an extensive dissection of the descending thoracic and abdominal aorta. One son was found to have a small PDA and an aneurysm extending from the aortic sinuses to the diaphragm at age 28, and underwent repair of both but died of left ventricular failure in the early postoperative period. Another son was found to have an aneurysm of the ascending aorta with areas of dissection, and at surgery underwent repair of a PDA and prosthetic replacement of a tricuspid aortic valve and of the ascending aorta. Histologic examination of aortic tissue from the 3 sibs revealed cystic medial necrosis in the first 2 cases and myxomatous degeneration in the latter. A granddaughter, offspring of the deceased son, was found to have PDA at age 7 months, underwent repair at 21 months, and had no evidence of aortic disease 10 years later. </p><p>Khau Van Kien et al. (2004) reported a French family composed of 179 members with an abnormally high occurrence of thoracic aortic aneurysm and aortic dissection. Of 40 members in 3 generations investigated, 16 were affected. In addition, 11 cases of patent ductus arteriosus were observed. Segregation analysis of the distribution of these vascular abnormalities was suggestive of a single genetic defect with an autosomal dominant pattern of inheritance. Khau Van Kien et al. (2004) concluded that familial thoracic aortic aneurysm/dissection with PDA may be a distinct mendelian disorder. </p><p>Khau Van Kien et al. (2005) performed cine MRI in 42 asymptomatic members and 6 individuals with known aortic aneurysm/PDA from the French family reported by Khau Van Kien et al. (2004). All individuals bearing the disease haplotype, even asymptomatic, displayed a very low level of aortic compliance and distensibility, indicating that aortic stiffness is a subclinical and early manifestation of the disease. </p>
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<strong>Mapping</strong>
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<p>Khau Van Kien et al. (2005) performed a genomewide scan in 40 members from 3 generations of the French pedigree reported by Khau Van Kien et al. (2004). Initial analysis involving only the 7 thoracic aneurysm/dissection cases yielded a maximum lod score of 2.73 at theta = 0.0 on chromosome 16p at marker D16S3068; the lod score increased to 3.56 with inclusion of 5 PDA cases. A maximum lod score of 4.14 near marker D16S3103 was obtained with multipoint linkage analysis; fine mapping delimited a critical 20-cM interval at 16p13.13-p12.2. </p>
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<strong>Molecular Genetics</strong>
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<p>One of the genes in the critical linkage region on chromosome 16p identified by Khau Van Kien et al. (2004) is MYH11 (160745), which encodes the smooth muscle myosin heavy chain, a major specific contractile protein produced in the smooth muscle cells. Zhu et al. (2006) reported systematic mutation screening of the MYH11 gene, which showed 2 heterozygous mutations affecting the same allele in the French kindred reported by Khau Van Kien et al. (2004). The first was a substitution of the splice donor site of intron 32 (IVS32+1G-T); the second was a transition in exon 37 resulting in an arg1758-to-gln (R1758Q) amino acid change (160745.0001). Both mutations were identified in all subjects carrying the disease haplotype, but neither was found in 340 normal chromosomes. In the American kindred described by Glancy et al. (2001), they detected a 72-nucleotide deletion within exon 28 of the MYH11 gene (160745.0002). </p><p>Pannu et al. (2007) sequenced the MYH11 gene in 3 probands from 3 families with nonsyndromic thoracic aortic aneurysm and dissection (TAAD) in which 1 or more members had patent ductus arteriosus (PDA) and in 93 probands from unrelated TAAD families without PDA, and identified 2 closely linked missense mutations in 1 of the 3 TAAD/PDA families (160745.0003 and 160745.0004) and a different missense mutation in another of the 3 TAAD/PDA families (160745.0005). Histopathologic analysis of aortic sections from a mutation-positive individual from each family revealed smooth muscle cell (SMC) disarray and focal hyperplasia of SMCs in the aortic media, as well as SMC hyperplasia leading to significant lumen narrowing in some of the vessels of the adventitia. Insulin-like growth factor-1 (IGF1; 147440) was upregulated and there was enhanced expression of markers of angiotensin II (106150) vascular inflammation in mutant aortas and explanted SMCs. Pannu et al. (2007) concluded that MYH11 mutations are likely to be specific to the phenotype of TAAD/PDA and to result in a distinct aortic and occlusive vascular pathology, potentially driven by IGF1 and angiotensin II. </p>
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<strong>REFERENCES</strong>
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Glancy, D. L., Wegmann, M., Dhurandhar, R. W.
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<strong>Aortic dissection and patent ductus arteriosus in three generations.</strong>
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Am. J. Cardiol. 87: 813-815, 2001. Note: Erratum: Am. J. Cardiol. 87: 1438 only, 2001.
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[PubMed: 11249915]
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[Full Text: https://doi.org/10.1016/s0002-9149(00)01515-0]
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Khau Van Kien, P., Mathieu, F., Zhu, L., Lalande, A., Betard, C., Lathrop, M., Brunotte, F., Wolf, J.-E., Jeunemaitre, X.
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<strong>Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13</strong>
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Circulation 112: 200-206, 2005.
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[PubMed: 15998682]
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[Full Text: https://doi.org/10.1161/CIRCULATIONAHA.104.506345]
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Khau Van Kien, P., Wolf, J.-E., Mathieu, F., Zhu, L., Salve, N., Lalande, A., Bonnet, C., Lesca, G., Plauchu, H., Dellinger, A., Nivelon-Chevallier, A., Brunotte, F., Jeunemaitre, X.
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<strong>Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.</strong>
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Europ. J. Hum. Genet. 12: 173-180, 2004.
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[PubMed: 14722581]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201119]
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Pannu, H., Tran-Fadulu, V., Papke, C. L., Scherer, S., Liu, Y., Presley, C., Guo, D., Estrera, A. L., Safi, H. J., Brasier, A. R., Vick, G. W., Marian, A. J., Raman, C. S., Buja, L. M., Milewicz, D. M.
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<strong>MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II.</strong>
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Hum. Molec. Genet. 16: 2453-2462, 2007. Note: Erratum: Hum. Molec. Genet. 17: 158 only, 2008.
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[PubMed: 17666408]
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[Full Text: https://doi.org/10.1093/hmg/ddm201]
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<p class="mim-text-font">
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Zhu, L., Vranckx, R., Khau Van Kien, P., Lalande, A., Boisset, N., Mathieu, F., Wegman, M., Glancy, L., Gasc, J.-M., Brunotte, F., Bruneval, P., Wolf, J.-E., Michel, J.-B., Jeunemaitre, X.
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<strong>Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.</strong>
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Nature Genet. 38: 343-349, 2006.
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[PubMed: 16444274]
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[Full Text: https://doi.org/10.1038/ng1721]
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Marla J. F. O'Neill - updated : 12/1/2009<br>Victor A. McKusick - updated : 2/27/2006<br>Marla J. F. O'Neill - updated : 2/24/2006<br>Marla J. F. O'Neill - updated : 4/30/2004<br>Paul Brennan - updated : 7/3/2002<br>Paul Brennan - edited : 7/3/2002
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Victor A. McKusick : 6/4/1986
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