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Entry
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- #314400 - CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVDPX
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- OMIM
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<p>
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<span class="h4">#314400</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/314400"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=CARDIAC VALVULAR DYSPLASIA, X-LINKED" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=28119&Typ=Pat" title="FLNA-related X-linked myxomatous valvular dysplasia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">FLNA-related X-linked myxo… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11084&Typ=Pat" title="X-linked Ehlers-Danlos syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">X-linked Ehlers-Danlos syn… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1213/" 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/1082" 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://medlineplus.gov/genetics/condition/x-linked-cardiac-valvular-dysplasia" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=314400[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=555877" title="FLNA-related X-linked myxomatous valvular dysplasia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">FLNA-related X-linked myxo…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=75497" title="X-linked Ehlers-Danlos syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">X-linked Ehlers-Danlos syn…</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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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:0111765" 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/314400" 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:0111765" 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>SNOMEDCT:</strong> 1186709006<br />
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<strong>ORPHA:</strong> 555877, 75497<br />
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<strong>DO:</strong> 0111765<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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314400
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVDPX
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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VALVULAR HEART DISEASE, CONGENITAL<br />
|
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MYXOMATOUS VALVULAR DYSTROPHY, X-LINKED; XMVD<br />
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EHLERS-DANLOS SYNDROME, TYPE V, FORMERLY; EDS5, FORMERLY
|
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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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<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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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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<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/X/857?start=-3&limit=10&highlight=857">
|
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Xq28
|
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</a>
|
|
</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Cardiac valvular dysplasia, X-linked
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/314400"> 314400 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
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|
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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">
|
|
FLNA
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300017"> 300017 </a>
|
|
</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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|
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/314400" 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>
|
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<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/314400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/314400" 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>
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
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|
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|
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263934009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263934009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001417</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001417</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
|
|
|
</div>
|
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|
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|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Prominent supraorbital ridges (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842060&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842060</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000336</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000336</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7cb29211bc76e7649d907f6b03ef78ed" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Supraorbital_Ridges,Prominent-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7cb29211bc76e7649d907f6b03ef78ed" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ptosis (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29696001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29696001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a>, <a href="https://bioportal.bioontology.org/search?q=C0033377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Hypertelorism (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Thick lips (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836543</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012471" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012471</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012471" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012471</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</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">
|
|
|
|
- Thickened cardiac valves <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4523825&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4523825</a>]</span><br /> -
|
|
Dysplastic cardiac valves <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232568&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232568</a>]</span><br /> -
|
|
Congestive heart failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42343007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42343007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/428.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018802</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span><br /> -
|
|
Mitral valve prolapse <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409712001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409712001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8074002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8074002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026267&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026267</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001634</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001634</a>]</span><br /> -
|
|
Mitral regurgitation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48724000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48724000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026266&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026266</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001653</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001653</a>]</span><br /> -
|
|
Aortic 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 /> -
|
|
Bicuspid aortic valve (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72352009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72352009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q23.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q23.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5193127&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5193127</a>, <a href="https://bioportal.bioontology.org/search?q=C0149630&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149630</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001647" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001647</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001647" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001647</a>]</span><br /> -
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Ebstein anomaly of tricuspid valve (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204357006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204357006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q22.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q22.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/746.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">746.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010316</a>]</span><br /> -
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Tricuspid regurgitation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111287006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111287006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040961&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040961</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005180" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005180</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005180" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005180</a>]</span><br /> -
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Pulmonary regurgitation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91434003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91434003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034088&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034088</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010444</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">
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<strong> SKELETAL </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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- Joint laxity, mild (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855167&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855167</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298203008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298203008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/788453008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">788453008</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span><br /> -
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Joint stiffness (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84445001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84445001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162298&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162298</a>, <a href="https://bioportal.bioontology.org/search?q=C4085642&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085642</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001387</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001387</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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<span class="h5 mim-font">
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<em> Limbs </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Limited supination of elbows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279763&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279763</a>]</span><br /> -
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Fixed flexion of knees <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232563</a>]</span><br /> -
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Fixed flexion of ankles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232564&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232564</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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<span class="h5 mim-font">
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<em> Feet </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Proximally placed and externally rotated fifth toe (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232565</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">
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<strong> SKIN, NAILS, & HAIR </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Skin </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Skin laxity (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58588007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58588007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q82.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q82.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010495&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010495</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000973</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000973</a>]</span><br /> -
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Keloid scarring (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33659008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33659008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58405006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58405006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L91.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L91.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/701.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">701.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022548&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022548</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010562" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010562</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">
|
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<strong> MUSCLE, SOFT TISSUES </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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- Reduced limb musculature (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232560&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232560</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> 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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|
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- Male patients more severely affected than female patients<br /> -
|
|
Phenotypic variability <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </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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- Caused by mutation in the filamin-A gene (FLNA, <a href="/entry/300017#0030">300017.0030</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">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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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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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that X-linked cardiac valvular dysplasia (CVDPX) is caused by mutation in the FLNA gene (<a href="/entry/300017">300017</a>) on chromosome Xq28.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>X-linked cardiac valvular dysplasia (CVDPX) is a rare form of heart disease characterized by multivalvular dysplasia and regurgitation, which can lead to lethal heart failure in some patients. Heterozygous females are more mildly affected than hemizygous males. Some patients also exhibit features of Ehler-Danlos syndrome (EDS; see <a href="/entry/130000">130000</a>), with hyperextensible skin and joint hypermobility, whereas others have stiffening of joints from early childhood (<a href="#7" class="mim-tip-reference" title="Kyndt, F., Gueffet, J.-P., Probst, V., Jaafar, P., Legendre, A., Le Bouffant, F., Toquet, C., Roy, E., McGregor, L., Lynch, S. A., Newbury-Ecob, R., Tran, V., Young, I., Trochu, J.-N., Le Marec, H., Schott, J.-J. <strong>Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.</strong> Circulation 115: 40-49, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17190868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17190868</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.106.622621" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17190868">Kyndt et al., 2007</a>; <a href="#14" class="mim-tip-reference" title="Ritelli, M., Morlino, S., Giacopuzzi, E., Carini, G., Cinquina, V., Chiarelli, N., Majore, S., Colombi, M., Castori, M. <strong>Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.</strong> Am. J. Med. Genet. 173A: 169-176, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27739212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27739212</a>] [<a href="https://doi.org/10.1002/ajmg.a.38004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27739212">Ritelli et al., 2017</a>; <a href="#10" class="mim-tip-reference" title="Mercer, C. L., Andreoletti, G., Carroll, A., Salmon, A. P., Temple, I. K., Ennis, S. <strong>Familial Ebstein anomaly: whole exome sequencing identifies novel phenotype associated with FLNA.</strong> Circ. Cardiovasc. Genet. 10: e001683, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29237676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29237676</a>] [<a href="https://doi.org/10.1161/CIRCGENETICS.116.001683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29237676">Mercer et al., 2017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=29237676+27739212+17190868" 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="#11" class="mim-tip-reference" title="Monteleone, P. L., Fagan, L. F. <strong>Possible X-linked congenital heart disease.</strong> Circulation 39: 611-614, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5787314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5787314</a>] [<a href="https://doi.org/10.1161/01.cir.39.5.611" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5787314">Monteleone and Fagan (1969)</a> described 6 definite and 1 probable case of congenital heart disease in males in 4 sibships of 3 generations of a black kindred in a pattern suggesting X-linked recessive inheritance. Four had mitral and aortic regurgitation, of whom 2 also had tricuspid regurgitation. The fifth definite case had only mitral regurgitation. Histologically, changes in the mitral valve of 1 case resembled those seen in the 'floppy valve syndrome' (<a href="#13" class="mim-tip-reference" title="Read, R. C., Thal, A. P., Wendt, V. E. <strong>Symptomatic valvular myxomatous transformation (the floppy valve syndrome). A possible forme fruste of the Marfan syndrome.</strong> Circulation 32: 897-910, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5845248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5845248</a>] [<a href="https://doi.org/10.1161/01.cir.32.6.897" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5845248">Read et al., 1965</a>) or in Marfan syndrome (which was suggested by no other feature of the cases). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5787314+5845248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Di Ferrante, N., Leachman, R. D., Angelini, P., Donnelly, P. V., Francis, G., Almazan, A., segni, G. <strong>Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V.</strong> Connect. Tissue Res. 3: 49-53, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/240645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">240645</a>] [<a href="https://doi.org/10.3109/03008207509152341" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="240645">Di Ferrante et al. (1975)</a> reported 2 Italian maternal cousins with congenital heart disease, 'floppy valve syndrome,' hernias, short stature, stretchable skin, and moderate joint hypermobility, which the authors considered to represent an X-linked form of Ehlers-Danlos syndrome (EDS5; see HISTORY). The proband's cousin had an affected younger brother who had died from severe congestive heart failure. Analysis of the proband's fibroblasts showed deficient activity of lysyl oxidase, the enzyme responsible for oxidative deamination of lysine and hydroxylysine in collagen as a first step in cross-linking of collagen. Addition of catechin, a flavonoid, to the proband's cultured fibroblasts decreased the solubility of collagen they produced. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=240645" 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="Balaji, S., Dennis, N. R., Keeton, B. R. <strong>Familial Ebstein's anomaly: a report of six cases in two generations associated with mild skeletal abnormalities.</strong> Brit. Heart J. 66: 26-28, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1854572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1854572</a>] [<a href="https://doi.org/10.1136/hrt.66.1.26" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1854572">Balaji et al. (1991)</a> reported a 3-generation family in which 6 members had Ebstein anomaly (EA) of the tricuspid valve. The index patient presented at age 5 years with an asymptomatic heart murmur that was clinically diagnosed as EA, which was confirmed on cardiac catheterization 3 years later. At age 30 years, she remained asymptomatic, although echocardiography showed a large right atrium, small right ventricle, and moderate tricuspid regurgitation. She had an asymptomatic 7-year-old daughter with mild EA on echocardiography, and a 3-year-old son with severe EA, who experienced cyanosis and heart failure as a neonate, with moderate tricuspid stenosis and regurgitation as well as a dysplastic stenotic mitral valve on echocardiography. The proband's unaffected sister had 3 affected children, including a 5-year-old asymptomatic girl, a male infant who died at 1 day of life with severe EA, and a 1-month old boy who was born with cyanosis and signs of heart failure who had mild EA by echocardiography. The sisters' 67-year-old father had a history of a 'weak heart' and underwent aortic valve replacement at age 62 years for aortic stenosis; preoperative cardiac catheterization did not show any right heart abnormalities. All of the family members had mild skeletal anomalies, including joint contractures and/or proximally placed and externally rotated fifth toes. The authors stated that it was not clear whether the skeletal findings were coincidental in this family or part of an inherited syndrome with EA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1854572" 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="#12" class="mim-tip-reference" title="Newbury-Ecob, R. A., Zuccollo, J. M., Rutter, N., Young, I. D. <strong>Sex linked valvular dysplasia.</strong> J. Med. Genet. 30: 873-874, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8230166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8230166</a>] [<a href="https://doi.org/10.1136/jmg.30.10.873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8230166">Newbury-Ecob et al. (1993)</a> described a British family in which 2 brothers and the son of a daughter of one of them had valvular dysplasia. The grandson died in severe heart failure in the first day of life. All 4 heart valves were abnormal. The tricuspid and mitral valves had edematous and irregular cusps with short and irregular chordae. The aortic and pulmonary valves were bicuspid but also showed thickening and edema of the cusps. The aortic ring was stenotic. The maternal grandfather was asymptomatic until the age of 25 years when he developed progressive breathlessness; at the age of 41 years, he underwent surgical replacement of the aortic mitral and tricuspid valves, which were the site of myxomatous degeneration with secondary calcification and regurgitation. His brother had severe mitral valve prolapse. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8230166" 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="#7" class="mim-tip-reference" title="Kyndt, F., Gueffet, J.-P., Probst, V., Jaafar, P., Legendre, A., Le Bouffant, F., Toquet, C., Roy, E., McGregor, L., Lynch, S. A., Newbury-Ecob, R., Tran, V., Young, I., Trochu, J.-N., Le Marec, H., Schott, J.-J. <strong>Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.</strong> Circulation 115: 40-49, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17190868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17190868</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.106.622621" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17190868">Kyndt et al. (2007)</a> studied a large French pedigree segregating X-linked cardiac valvular disease, originally reported by <a href="#4" class="mim-tip-reference" title="Benichou, B., Kyndt, F., Schott, J.-J., Trochu, J.-N., Baranger, F., Herbert, O., Scott, V., Fressinaud, E., David, A., Moisan, J.-P., Bouhour, J.-B., Le Marec, H. <strong>Mapping of X-linked valvular dysplasia to chromosome Xq28. (Abstract)</strong> Am. J. Hum. Genet. 61 (suppl.): A268 only, 1997."None>Benichou et al. (1997)</a> and <a href="#8" class="mim-tip-reference" title="Kyndt, F., Schott, J.-J., Trochu, J.-N., Baranger, F., Herbert, O., Scott, V., Fressinaud, E., David, A., Moisan, J.-P., Bouhour, J.-B., Le Marec, H., Benichou, B. <strong>Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28.</strong> Am. J. Hum. Genet. 62: 627-632, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497244</a>] [<a href="https://doi.org/10.1086/301747" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9497244">Kyndt et al. (1998)</a>, and identified a new branch of the family with a common ancestor born in the eighteenth century. The extended family included 14 affected males, all of whom had mitral valve disease and all but 1 of whom also had aortic valve regurgitation. Twelve male patients had progressive mitral valve prolapse, found on the anterior valve in 4 and on both valves in 8. Five male patients underwent valve surgery, 3 for replacement of the aortic valve, 1 for both aortic and mitral valve replacement, and 1 for mitral valvuloplasty. Mild to moderate tricuspid valve regurgitation was found in 11 affected males, and mild pulmonary regurgitation in 4, but none had surgery of the tricuspid or pulmonary valves. In all but 1 of the affected males, valvular disease was associated with mild hemophilia A (<a href="/entry/306700">306700</a>), with factor VIII (<a href="/entry/300841">300841</a>) activity between 15% and 50%. Haplotype analysis in the patient with normal coagulation factor activity demonstrated that valvulopathy and hemophilia were transmitted as independent traits (see MAPPING). There were 30 carrier females in the family, all of whom were asymptomatic; upon examination, however, 14 of the carrier females were considered affected, 12 had minor valve disease and were designated 'undetermined,' and only 4 were considered unaffected. Among carrier females, 4 had mitral valve prolapse, involving the anterior valve in 3 cases and the posterior valve in 1 case; mitral valve regurgitation was mild in 19 and moderate in 4; aortic valve regurgitation was mild in 8, moderate in 3, and severe in 1; tricuspid valve regurgitation was mild in 9 and moderate in 1; and pulmonary valve regurgitation was mild in 2 and moderate in 1. None of the carrier females had undergone valvular surgery. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9497244+17190868" 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="#14" class="mim-tip-reference" title="Ritelli, M., Morlino, S., Giacopuzzi, E., Carini, G., Cinquina, V., Chiarelli, N., Majore, S., Colombi, M., Castori, M. <strong>Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.</strong> Am. J. Med. Genet. 173A: 169-176, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27739212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27739212</a>] [<a href="https://doi.org/10.1002/ajmg.a.38004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27739212">Ritelli et al. (2017)</a> restudied the Italian family with multivalvular disease and features consistent with Ehlers-Danlos syndrome that was originally reported by <a href="#6" class="mim-tip-reference" title="Di Ferrante, N., Leachman, R. D., Angelini, P., Donnelly, P. V., Francis, G., Almazan, A., segni, G. <strong>Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V.</strong> Connect. Tissue Res. 3: 49-53, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/240645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">240645</a>] [<a href="https://doi.org/10.3109/03008207509152341" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="240645">Di Ferrante et al. (1975)</a>, and identified 4 more affected individuals over 3 generations, for a total of 1 female and 5 male patients, who had all died of congestive heart failure. Both male cousins exhibited dysmorphic facial features, including bilateral ptosis, hypertelorism, prominent columella, long philtrum, and thick lower lip. Additional findings included joint hypermobility, mild scoliosis, genua valga, flexible flat feet, and soft, doughy, and hyperextensible skin. The index patient (III.1) experienced progressive heart failure due to an intrinsic defect of all valves, and died awaiting transplantation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=240645+27739212" 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="#10" class="mim-tip-reference" title="Mercer, C. L., Andreoletti, G., Carroll, A., Salmon, A. P., Temple, I. K., Ennis, S. <strong>Familial Ebstein anomaly: whole exome sequencing identifies novel phenotype associated with FLNA.</strong> Circ. Cardiovasc. Genet. 10: e001683, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29237676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29237676</a>] [<a href="https://doi.org/10.1161/CIRCGENETICS.116.001683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29237676">Mercer et al. (2017)</a> reexamined 6 affected individuals, 2 brother/sister pairs and their respective mothers, from the family with Ebstein anomaly originally reported by <a href="#1" class="mim-tip-reference" title="Balaji, S., Dennis, N. R., Keeton, B. R. <strong>Familial Ebstein's anomaly: a report of six cases in two generations associated with mild skeletal abnormalities.</strong> Brit. Heart J. 66: 26-28, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1854572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1854572</a>] [<a href="https://doi.org/10.1136/hrt.66.1.26" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1854572">Balaji et al. (1991)</a>. The 2 male patients were the most severely affected; in addition to EA, both exhibited mitral valve dysplasia with stenosis and regurgitation as well as pulmonary regurgitation, and 1 also had bicuspid aortic valve with regurgitation. Other cardiac abnormalities in the 4 female patients included patent foramen ovale in 1 and pulmonary regurgitation in another. The men also showed facial dysmorphism, including prominent supraorbital ridges, hypertelorism, and proptosis. All 6 patients had joint stiffness that began in childhood and was most severe in the men, who had fixed flexion of the knees and ankles; both men and 2 women also had limited supination of the elbows. In addition, both men and 1 woman had reduced limb musculature. All 6 patients exhibited proximally placed and externally rotated fifth toes, and keloid scarring was noted in all. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=29237676+1854572" 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="#4" class="mim-tip-reference" title="Benichou, B., Kyndt, F., Schott, J.-J., Trochu, J.-N., Baranger, F., Herbert, O., Scott, V., Fressinaud, E., David, A., Moisan, J.-P., Bouhour, J.-B., Le Marec, H. <strong>Mapping of X-linked valvular dysplasia to chromosome Xq28. (Abstract)</strong> Am. J. Hum. Genet. 61 (suppl.): A268 only, 1997."None>Benichou et al. (1997)</a> did linkage studies of a large 5-generation French pedigree in which males were severely affected and carrier females were also affected but to a milder extent, consistent with X-linked inheritance. Using dinucleotide repeat markers, they assigned the gene for CVD to an 8-cM region of Xq28. A 5.91 lod score was obtained for 2 distal markers, including an intronic microsatellite of the factor VIII gene. In the full report of this study, <a href="#8" class="mim-tip-reference" title="Kyndt, F., Schott, J.-J., Trochu, J.-N., Baranger, F., Herbert, O., Scott, V., Fressinaud, E., David, A., Moisan, J.-P., Bouhour, J.-B., Le Marec, H., Benichou, B. <strong>Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28.</strong> Am. J. Hum. Genet. 62: 627-632, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497244</a>] [<a href="https://doi.org/10.1086/301747" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9497244">Kyndt et al. (1998)</a> reported a maximum lod score of 6.54 at theta = 0.0 for 2 polymorphic microsatellite markers, INT3 and DXS1008, the first being intronic to the factor VIII gene. <a href="#8" class="mim-tip-reference" title="Kyndt, F., Schott, J.-J., Trochu, J.-N., Baranger, F., Herbert, O., Scott, V., Fressinaud, E., David, A., Moisan, J.-P., Bouhour, J.-B., Le Marec, H., Benichou, B. <strong>Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28.</strong> Am. J. Hum. Genet. 62: 627-632, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497244</a>] [<a href="https://doi.org/10.1086/301747" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9497244">Kyndt et al. (1998)</a> referred to X-linked CVD as X-linked myxomatous valvular dystrophy (XMVD). Haplotype analysis of this chromosomal region allowed definition of an 8-cM minimal interval containing the gene for XMVD, between DXS8011 and Xqter. <a href="#7" class="mim-tip-reference" title="Kyndt, F., Gueffet, J.-P., Probst, V., Jaafar, P., Legendre, A., Le Bouffant, F., Toquet, C., Roy, E., McGregor, L., Lynch, S. A., Newbury-Ecob, R., Tran, V., Young, I., Trochu, J.-N., Le Marec, H., Schott, J.-J. <strong>Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.</strong> Circulation 115: 40-49, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17190868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17190868</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.106.622621" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17190868">Kyndt et al. (2007)</a> performed additional linkage analysis in the large French pedigree with valvular dysplasia, including a new branch of the family with a common ancestor born in the eighteenth century, and refined the critical region to a 2.5-Mb interval between DXS10049 and the GAB3 gene (<a href="/entry/300482">300482</a>) that excluded the factor VIII gene (<a href="/entry/300841">300841</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9497244+17190868" 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="#7" class="mim-tip-reference" title="Kyndt, F., Gueffet, J.-P., Probst, V., Jaafar, P., Legendre, A., Le Bouffant, F., Toquet, C., Roy, E., McGregor, L., Lynch, S. A., Newbury-Ecob, R., Tran, V., Young, I., Trochu, J.-N., Le Marec, H., Schott, J.-J. <strong>Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.</strong> Circulation 115: 40-49, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17190868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17190868</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.106.622621" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17190868">Kyndt et al. (2007)</a> analyzed candidate genes in the large French pedigree with X-linked cardiac valvular disease and identified a hemizygous mutation in the FLNA gene (P637Q; <a href="/entry/300017#0030">300017.0030</a>) that segregated with disease. In the British family originally studied by <a href="#12" class="mim-tip-reference" title="Newbury-Ecob, R. A., Zuccollo, J. M., Rutter, N., Young, I. D. <strong>Sex linked valvular dysplasia.</strong> J. Med. Genet. 30: 873-874, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8230166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8230166</a>] [<a href="https://doi.org/10.1136/jmg.30.10.873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8230166">Newbury-Ecob et al. (1993)</a> and in 2 additional families with cardiac valvular disease, <a href="#7" class="mim-tip-reference" title="Kyndt, F., Gueffet, J.-P., Probst, V., Jaafar, P., Legendre, A., Le Bouffant, F., Toquet, C., Roy, E., McGregor, L., Lynch, S. A., Newbury-Ecob, R., Tran, V., Young, I., Trochu, J.-N., Le Marec, H., Schott, J.-J. <strong>Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.</strong> Circulation 115: 40-49, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17190868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17190868</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.106.622621" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17190868">Kyndt et al. (2007)</a> identified respective mutations in the FLNA gene (<a href="/entry/300017#0031">300017.0031</a>-<a href="/entry/300017#0033">300017.0033</a>). The mutations segregated with disease in the families and were not found in control chromosomes. All 4 families presented no clinically apparent extracardiac abnormalities, no dysmorphic features, and no epileptic seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8230166+17190868" 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 DNA from 2 affected male cousins from a 3-generation Italian family originally reported by <a href="#6" class="mim-tip-reference" title="Di Ferrante, N., Leachman, R. D., Angelini, P., Donnelly, P. V., Francis, G., Almazan, A., segni, G. <strong>Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V.</strong> Connect. Tissue Res. 3: 49-53, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/240645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">240645</a>] [<a href="https://doi.org/10.3109/03008207509152341" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="240645">Di Ferrante et al. (1975)</a>, in which 5 affected males and 1 female had died of congestive heart failure due to multivalvular disease, <a href="#14" class="mim-tip-reference" title="Ritelli, M., Morlino, S., Giacopuzzi, E., Carini, G., Cinquina, V., Chiarelli, N., Majore, S., Colombi, M., Castori, M. <strong>Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.</strong> Am. J. Med. Genet. 173A: 169-176, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27739212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27739212</a>] [<a href="https://doi.org/10.1002/ajmg.a.38004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27739212">Ritelli et al. (2017)</a> performed exome sequencing and identified hemizygosity for a splicing mutation in the FLNA gene (<a href="/entry/300017#0037">300017.0037</a>). No other family members were available for segregation analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=240645+27739212" 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 a 3-generation family with multivalvular dysplasia, originally reported by <a href="#1" class="mim-tip-reference" title="Balaji, S., Dennis, N. R., Keeton, B. R. <strong>Familial Ebstein's anomaly: a report of six cases in two generations associated with mild skeletal abnormalities.</strong> Brit. Heart J. 66: 26-28, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1854572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1854572</a>] [<a href="https://doi.org/10.1136/hrt.66.1.26" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1854572">Balaji et al. (1991)</a> and negative for mutation in the MYH7 (<a href="/entry/160760">160760</a>) and NKX2-5 (<a href="/entry/600584">600584</a>) genes, <a href="#10" class="mim-tip-reference" title="Mercer, C. L., Andreoletti, G., Carroll, A., Salmon, A. P., Temple, I. K., Ennis, S. <strong>Familial Ebstein anomaly: whole exome sequencing identifies novel phenotype associated with FLNA.</strong> Circ. Cardiovasc. Genet. 10: e001683, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29237676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29237676</a>] [<a href="https://doi.org/10.1161/CIRCGENETICS.116.001683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29237676">Mercer et al. (2017)</a> analyzed exome data and identified a missense mutation in the FLNA gene (G1554R; <a href="/entry/300017#0038">300017.0038</a>) that segregated with the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=29237676+1854572" 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="#3" class="mim-tip-reference" title="Beighton, P. H. <strong>X-linked recessive inheritance in the Ehlers-Danlos syndrome.</strong> Brit. Med. J. 2: 409-411, 1968."None>Beighton (1968)</a> described 2 families in which X-linked inheritance of Ehlers-Danlos syndrome, designated EDS5, was probable. The clinical features included hyperextensible skin and bruising tendency. Fragility of skin was unimpressive. In contrast to the findings of <a href="#6" class="mim-tip-reference" title="Di Ferrante, N., Leachman, R. D., Angelini, P., Donnelly, P. V., Francis, G., Almazan, A., segni, G. <strong>Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V.</strong> Connect. Tissue Res. 3: 49-53, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/240645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">240645</a>] [<a href="https://doi.org/10.3109/03008207509152341" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="240645">Di Ferrante et al. (1975)</a>, a study of material from Beighton's original cases by <a href="#15" class="mim-tip-reference" title="Siegel, R. C., Black, C. M., Bailey, A. J. <strong>Cross-linking of collagen in the X-linked Ehlers-Danlos type V.</strong> Biochem. Biophys. Res. Commun. 88: 281-287, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36897</a>] [<a href="https://doi.org/10.1016/0006-291x(79)91727-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36897">Siegel et al. (1979)</a> demonstrated no deficiency of lysyl oxidase, and <a href="#5" class="mim-tip-reference" title="Byers, P. H. <strong>Personal Communication.</strong> Seattle, Wash. 1980."None>Byers (1980)</a> suggested that such a deficiency was unlikely in this condition. <a href="#2" class="mim-tip-reference" title="Beighton, P., Curtis, D. <strong>X-linked Ehlers-Danlos syndrome type V; the next generation.</strong> Clin. Genet. 27: 472-478, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4006272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4006272</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1985.tb00234.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4006272">Beighton and Curtis (1985)</a> provided follow-up on the 2 families studied by <a href="#3" class="mim-tip-reference" title="Beighton, P. H. <strong>X-linked recessive inheritance in the Ehlers-Danlos syndrome.</strong> Brit. Med. J. 2: 409-411, 1968."None>Beighton (1968)</a>. In family 1, a sister of 3 affected males had produced an affected son. The authors noted that all affected individuals from both families had red hair. <a href="#16" class="mim-tip-reference" title="Steinmann, B., Royce, P. M., Superti-Furga, A. <strong>The Ehlers-Danlos syndrome.In: Royce, P. M.; Steinmann, B. (eds.) : Connective Tissue and its Heritable Disorders: Molecular, Genetic, and Medical Aspects. (2nd ed.)</strong> New York: Wiley Liss (pub.) 2002. Pp. 431-524."None>Steinmann et al. (2002)</a> questioned the existence of EDS V as a distinct entity. They considered the phenotype too ill defined, and thought it more likely that the patients originally reported by <a href="#6" class="mim-tip-reference" title="Di Ferrante, N., Leachman, R. D., Angelini, P., Donnelly, P. V., Francis, G., Almazan, A., segni, G. <strong>Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V.</strong> Connect. Tissue Res. 3: 49-53, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/240645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">240645</a>] [<a href="https://doi.org/10.3109/03008207509152341" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="240645">Di Ferrante et al. (1975)</a> as having EDS5 had cardiac valvular dysplasia. <a href="#9" class="mim-tip-reference" title="Malfait, F., Francomano, C., Byers, P., Belmont,, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., Castori, M., Cohen, H., and 33 others. <strong>The 2017 international classification of the Ehlers-Danlos syndromes.</strong> Am. J. Med. Genet. 175C: 8-26, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28306229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28306229</a>] [<a href="https://doi.org/10.1002/ajmg.c.31552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28306229">Malfait et al. (2017)</a> stated that the condition designated EDS5 is no longer included in the EDS spectrum. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=240645+36897+28306229+4006272" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Familial Ebstein's anomaly: a report of six cases in two generations associated with mild skeletal abnormalities.</strong>
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Brit. Heart J. 66: 26-28, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1854572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1854572</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1854572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Clin. Genet. 27: 472-478, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4006272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4006272</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4006272" 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/10.1111/j.1399-0004.1985.tb00234.x" target="_blank">Full Text</a>]
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<strong>X-linked recessive inheritance in the Ehlers-Danlos syndrome.</strong>
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Brit. Med. J. 2: 409-411, 1968.
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Benichou, B., Kyndt, F., Schott, J.-J., Trochu, J.-N., Baranger, F., Herbert, O., Scott, V., Fressinaud, E., David, A., Moisan, J.-P., Bouhour, J.-B., Le Marec, H.
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<strong>Mapping of X-linked valvular dysplasia to chromosome Xq28. (Abstract)</strong>
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Am. J. Hum. Genet. 61 (suppl.): A268 only, 1997.
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<a id="5" class="mim-anchor"></a>
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<a id="Byers1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Byers, P. H.
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<strong>Personal Communication.</strong>
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Seattle, Wash. 1980.
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</p>
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</div>
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<a id="6" class="mim-anchor"></a>
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<a id="Di Ferrante1975" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Di Ferrante, N., Leachman, R. D., Angelini, P., Donnelly, P. V., Francis, G., Almazan, A., segni, G.
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<strong>Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V.</strong>
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Connect. Tissue Res. 3: 49-53, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/240645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">240645</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=240645" 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/10.3109/03008207509152341" target="_blank">Full Text</a>]
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</p>
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<a id="7" class="mim-anchor"></a>
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<a id="Kyndt2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kyndt, F., Gueffet, J.-P., Probst, V., Jaafar, P., Legendre, A., Le Bouffant, F., Toquet, C., Roy, E., McGregor, L., Lynch, S. A., Newbury-Ecob, R., Tran, V., Young, I., Trochu, J.-N., Le Marec, H., Schott, J.-J.
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<strong>Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.</strong>
|
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Circulation 115: 40-49, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17190868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17190868</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17190868" 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.106.622621" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Kyndt1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kyndt, F., Schott, J.-J., Trochu, J.-N., Baranger, F., Herbert, O., Scott, V., Fressinaud, E., David, A., Moisan, J.-P., Bouhour, J.-B., Le Marec, H., Benichou, B.
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<strong>Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28.</strong>
|
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Am. J. Hum. Genet. 62: 627-632, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497244</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9497244" 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/10.1086/301747" target="_blank">Full Text</a>]
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Malfait2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Malfait, F., Francomano, C., Byers, P., Belmont,, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., Castori, M., Cohen, H., and 33 others.
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<strong>The 2017 international classification of the Ehlers-Danlos syndromes.</strong>
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Am. J. Med. Genet. 175C: 8-26, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28306229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28306229</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28306229" 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.c.31552" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Mercer2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mercer, C. L., Andreoletti, G., Carroll, A., Salmon, A. P., Temple, I. K., Ennis, S.
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<strong>Familial Ebstein anomaly: whole exome sequencing identifies novel phenotype associated with FLNA.</strong>
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Circ. Cardiovasc. Genet. 10: e001683, 2017. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29237676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29237676</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29237676" 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/CIRCGENETICS.116.001683" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Monteleone1969" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Monteleone, P. L., Fagan, L. F.
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<strong>Possible X-linked congenital heart disease.</strong>
|
|
Circulation 39: 611-614, 1969.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5787314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5787314</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5787314" 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/10.1161/01.cir.39.5.611" target="_blank">Full Text</a>]
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Newbury-Ecob1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Newbury-Ecob, R. A., Zuccollo, J. M., Rutter, N., Young, I. D.
|
|
<strong>Sex linked valvular dysplasia.</strong>
|
|
J. Med. Genet. 30: 873-874, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8230166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8230166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8230166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.30.10.873" target="_blank">Full Text</a>]
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Read1965" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Read, R. C., Thal, A. P., Wendt, V. E.
|
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<strong>Symptomatic valvular myxomatous transformation (the floppy valve syndrome). A possible forme fruste of the Marfan syndrome.</strong>
|
|
Circulation 32: 897-910, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5845248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5845248</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5845248" 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/10.1161/01.cir.32.6.897" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Ritelli2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ritelli, M., Morlino, S., Giacopuzzi, E., Carini, G., Cinquina, V., Chiarelli, N., Majore, S., Colombi, M., Castori, M.
|
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<strong>Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.</strong>
|
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Am. J. Med. Genet. 173A: 169-176, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27739212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27739212</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27739212" 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.38004" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Siegel1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Siegel, R. C., Black, C. M., Bailey, A. J.
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<strong>Cross-linking of collagen in the X-linked Ehlers-Danlos type V.</strong>
|
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Biochem. Biophys. Res. Commun. 88: 281-287, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36897</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36897" 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/10.1016/0006-291x(79)91727-3" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Steinmann2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Steinmann, B., Royce, P. M., Superti-Furga, A.
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<strong>The Ehlers-Danlos syndrome.In: Royce, P. M.; Steinmann, B. (eds.) : Connective Tissue and its Heritable Disorders: Molecular, Genetic, and Medical Aspects. (2nd ed.)</strong>
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New York: Wiley Liss (pub.) 2002. Pp. 431-524.
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</ol>
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<br />
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 07/17/2019
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/28/2010<br>Victor A. McKusick - updated : 3/10/1998<br>Victor A. McKusick - updated : 10/22/1997
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 09/30/2022
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/17/2019<br>carol : 04/07/2011<br>wwang : 10/28/2010<br>terry : 10/28/2010<br>alopez : 3/17/2004<br>carol : 11/7/2002<br>dholmes : 3/30/1998<br>alopez : 3/10/1998<br>terry : 3/9/1998<br>terry : 10/28/1997<br>jenny : 10/24/1997<br>terry : 10/22/1997<br>mimadm : 2/28/1994<br>carol : 11/5/1993<br>supermim : 3/17/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988
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</span>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 314400
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVDPX
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</div>
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<div>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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VALVULAR HEART DISEASE, CONGENITAL<br />
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MYXOMATOUS VALVULAR DYSTROPHY, X-LINKED; XMVD<br />
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EHLERS-DANLOS SYNDROME, TYPE V, FORMERLY; EDS5, FORMERLY
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</span>
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<br />
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1186709006;
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<strong>ORPHA:</strong> 555877, 75497;
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<strong>DO:</strong> 0111765;
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</span>
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</p>
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<div>
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<br />
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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 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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Xq28
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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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Cardiac valvular dysplasia, X-linked
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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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314400
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|
</span>
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</td>
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<td>
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<span class="mim-font">
|
|
X-linked
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
3
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|
</span>
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</td>
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<td>
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<span class="mim-font">
|
|
FLNA
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
300017
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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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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because of evidence that X-linked cardiac valvular dysplasia (CVDPX) is caused by mutation in the FLNA gene (300017) on chromosome Xq28.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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|
<p>X-linked cardiac valvular dysplasia (CVDPX) is a rare form of heart disease characterized by multivalvular dysplasia and regurgitation, which can lead to lethal heart failure in some patients. Heterozygous females are more mildly affected than hemizygous males. Some patients also exhibit features of Ehler-Danlos syndrome (EDS; see 130000), with hyperextensible skin and joint hypermobility, whereas others have stiffening of joints from early childhood (Kyndt et al., 2007; Ritelli et al., 2017; Mercer et al., 2017). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Monteleone and Fagan (1969) described 6 definite and 1 probable case of congenital heart disease in males in 4 sibships of 3 generations of a black kindred in a pattern suggesting X-linked recessive inheritance. Four had mitral and aortic regurgitation, of whom 2 also had tricuspid regurgitation. The fifth definite case had only mitral regurgitation. Histologically, changes in the mitral valve of 1 case resembled those seen in the 'floppy valve syndrome' (Read et al., 1965) or in Marfan syndrome (which was suggested by no other feature of the cases). </p><p>Di Ferrante et al. (1975) reported 2 Italian maternal cousins with congenital heart disease, 'floppy valve syndrome,' hernias, short stature, stretchable skin, and moderate joint hypermobility, which the authors considered to represent an X-linked form of Ehlers-Danlos syndrome (EDS5; see HISTORY). The proband's cousin had an affected younger brother who had died from severe congestive heart failure. Analysis of the proband's fibroblasts showed deficient activity of lysyl oxidase, the enzyme responsible for oxidative deamination of lysine and hydroxylysine in collagen as a first step in cross-linking of collagen. Addition of catechin, a flavonoid, to the proband's cultured fibroblasts decreased the solubility of collagen they produced. </p><p>Balaji et al. (1991) reported a 3-generation family in which 6 members had Ebstein anomaly (EA) of the tricuspid valve. The index patient presented at age 5 years with an asymptomatic heart murmur that was clinically diagnosed as EA, which was confirmed on cardiac catheterization 3 years later. At age 30 years, she remained asymptomatic, although echocardiography showed a large right atrium, small right ventricle, and moderate tricuspid regurgitation. She had an asymptomatic 7-year-old daughter with mild EA on echocardiography, and a 3-year-old son with severe EA, who experienced cyanosis and heart failure as a neonate, with moderate tricuspid stenosis and regurgitation as well as a dysplastic stenotic mitral valve on echocardiography. The proband's unaffected sister had 3 affected children, including a 5-year-old asymptomatic girl, a male infant who died at 1 day of life with severe EA, and a 1-month old boy who was born with cyanosis and signs of heart failure who had mild EA by echocardiography. The sisters' 67-year-old father had a history of a 'weak heart' and underwent aortic valve replacement at age 62 years for aortic stenosis; preoperative cardiac catheterization did not show any right heart abnormalities. All of the family members had mild skeletal anomalies, including joint contractures and/or proximally placed and externally rotated fifth toes. The authors stated that it was not clear whether the skeletal findings were coincidental in this family or part of an inherited syndrome with EA. </p><p>Newbury-Ecob et al. (1993) described a British family in which 2 brothers and the son of a daughter of one of them had valvular dysplasia. The grandson died in severe heart failure in the first day of life. All 4 heart valves were abnormal. The tricuspid and mitral valves had edematous and irregular cusps with short and irregular chordae. The aortic and pulmonary valves were bicuspid but also showed thickening and edema of the cusps. The aortic ring was stenotic. The maternal grandfather was asymptomatic until the age of 25 years when he developed progressive breathlessness; at the age of 41 years, he underwent surgical replacement of the aortic mitral and tricuspid valves, which were the site of myxomatous degeneration with secondary calcification and regurgitation. His brother had severe mitral valve prolapse. </p><p>Kyndt et al. (2007) studied a large French pedigree segregating X-linked cardiac valvular disease, originally reported by Benichou et al. (1997) and Kyndt et al. (1998), and identified a new branch of the family with a common ancestor born in the eighteenth century. The extended family included 14 affected males, all of whom had mitral valve disease and all but 1 of whom also had aortic valve regurgitation. Twelve male patients had progressive mitral valve prolapse, found on the anterior valve in 4 and on both valves in 8. Five male patients underwent valve surgery, 3 for replacement of the aortic valve, 1 for both aortic and mitral valve replacement, and 1 for mitral valvuloplasty. Mild to moderate tricuspid valve regurgitation was found in 11 affected males, and mild pulmonary regurgitation in 4, but none had surgery of the tricuspid or pulmonary valves. In all but 1 of the affected males, valvular disease was associated with mild hemophilia A (306700), with factor VIII (300841) activity between 15% and 50%. Haplotype analysis in the patient with normal coagulation factor activity demonstrated that valvulopathy and hemophilia were transmitted as independent traits (see MAPPING). There were 30 carrier females in the family, all of whom were asymptomatic; upon examination, however, 14 of the carrier females were considered affected, 12 had minor valve disease and were designated 'undetermined,' and only 4 were considered unaffected. Among carrier females, 4 had mitral valve prolapse, involving the anterior valve in 3 cases and the posterior valve in 1 case; mitral valve regurgitation was mild in 19 and moderate in 4; aortic valve regurgitation was mild in 8, moderate in 3, and severe in 1; tricuspid valve regurgitation was mild in 9 and moderate in 1; and pulmonary valve regurgitation was mild in 2 and moderate in 1. None of the carrier females had undergone valvular surgery. </p><p>Ritelli et al. (2017) restudied the Italian family with multivalvular disease and features consistent with Ehlers-Danlos syndrome that was originally reported by Di Ferrante et al. (1975), and identified 4 more affected individuals over 3 generations, for a total of 1 female and 5 male patients, who had all died of congestive heart failure. Both male cousins exhibited dysmorphic facial features, including bilateral ptosis, hypertelorism, prominent columella, long philtrum, and thick lower lip. Additional findings included joint hypermobility, mild scoliosis, genua valga, flexible flat feet, and soft, doughy, and hyperextensible skin. The index patient (III.1) experienced progressive heart failure due to an intrinsic defect of all valves, and died awaiting transplantation. </p><p>Mercer et al. (2017) reexamined 6 affected individuals, 2 brother/sister pairs and their respective mothers, from the family with Ebstein anomaly originally reported by Balaji et al. (1991). The 2 male patients were the most severely affected; in addition to EA, both exhibited mitral valve dysplasia with stenosis and regurgitation as well as pulmonary regurgitation, and 1 also had bicuspid aortic valve with regurgitation. Other cardiac abnormalities in the 4 female patients included patent foramen ovale in 1 and pulmonary regurgitation in another. The men also showed facial dysmorphism, including prominent supraorbital ridges, hypertelorism, and proptosis. All 6 patients had joint stiffness that began in childhood and was most severe in the men, who had fixed flexion of the knees and ankles; both men and 2 women also had limited supination of the elbows. In addition, both men and 1 woman had reduced limb musculature. All 6 patients exhibited proximally placed and externally rotated fifth toes, and keloid scarring was noted in all. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Benichou et al. (1997) did linkage studies of a large 5-generation French pedigree in which males were severely affected and carrier females were also affected but to a milder extent, consistent with X-linked inheritance. Using dinucleotide repeat markers, they assigned the gene for CVD to an 8-cM region of Xq28. A 5.91 lod score was obtained for 2 distal markers, including an intronic microsatellite of the factor VIII gene. In the full report of this study, Kyndt et al. (1998) reported a maximum lod score of 6.54 at theta = 0.0 for 2 polymorphic microsatellite markers, INT3 and DXS1008, the first being intronic to the factor VIII gene. Kyndt et al. (1998) referred to X-linked CVD as X-linked myxomatous valvular dystrophy (XMVD). Haplotype analysis of this chromosomal region allowed definition of an 8-cM minimal interval containing the gene for XMVD, between DXS8011 and Xqter. Kyndt et al. (2007) performed additional linkage analysis in the large French pedigree with valvular dysplasia, including a new branch of the family with a common ancestor born in the eighteenth century, and refined the critical region to a 2.5-Mb interval between DXS10049 and the GAB3 gene (300482) that excluded the factor VIII gene (300841). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Kyndt et al. (2007) analyzed candidate genes in the large French pedigree with X-linked cardiac valvular disease and identified a hemizygous mutation in the FLNA gene (P637Q; 300017.0030) that segregated with disease. In the British family originally studied by Newbury-Ecob et al. (1993) and in 2 additional families with cardiac valvular disease, Kyndt et al. (2007) identified respective mutations in the FLNA gene (300017.0031-300017.0033). The mutations segregated with disease in the families and were not found in control chromosomes. All 4 families presented no clinically apparent extracardiac abnormalities, no dysmorphic features, and no epileptic seizures. </p><p>Using DNA from 2 affected male cousins from a 3-generation Italian family originally reported by Di Ferrante et al. (1975), in which 5 affected males and 1 female had died of congestive heart failure due to multivalvular disease, Ritelli et al. (2017) performed exome sequencing and identified hemizygosity for a splicing mutation in the FLNA gene (300017.0037). No other family members were available for segregation analysis. </p><p>In a 3-generation family with multivalvular dysplasia, originally reported by Balaji et al. (1991) and negative for mutation in the MYH7 (160760) and NKX2-5 (600584) genes, Mercer et al. (2017) analyzed exome data and identified a missense mutation in the FLNA gene (G1554R; 300017.0038) that segregated with the disease. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Beighton (1968) described 2 families in which X-linked inheritance of Ehlers-Danlos syndrome, designated EDS5, was probable. The clinical features included hyperextensible skin and bruising tendency. Fragility of skin was unimpressive. In contrast to the findings of Di Ferrante et al. (1975), a study of material from Beighton's original cases by Siegel et al. (1979) demonstrated no deficiency of lysyl oxidase, and Byers (1980) suggested that such a deficiency was unlikely in this condition. Beighton and Curtis (1985) provided follow-up on the 2 families studied by Beighton (1968). In family 1, a sister of 3 affected males had produced an affected son. The authors noted that all affected individuals from both families had red hair. Steinmann et al. (2002) questioned the existence of EDS V as a distinct entity. They considered the phenotype too ill defined, and thought it more likely that the patients originally reported by Di Ferrante et al. (1975) as having EDS5 had cardiac valvular dysplasia. Malfait et al. (2017) stated that the condition designated EDS5 is no longer included in the EDS spectrum. </p>
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|
</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Balaji, S., Dennis, N. R., Keeton, B. R.
|
|
<strong>Familial Ebstein's anomaly: a report of six cases in two generations associated with mild skeletal abnormalities.</strong>
|
|
Brit. Heart J. 66: 26-28, 1991.
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[PubMed: 1854572]
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[Full Text: https://doi.org/10.1136/hrt.66.1.26]
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</p>
|
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</li>
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Beighton, P., Curtis, D.
|
|
<strong>X-linked Ehlers-Danlos syndrome type V; the next generation.</strong>
|
|
Clin. Genet. 27: 472-478, 1985.
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[PubMed: 4006272]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1985.tb00234.x]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Beighton, P. H.
|
|
<strong>X-linked recessive inheritance in the Ehlers-Danlos syndrome.</strong>
|
|
Brit. Med. J. 2: 409-411, 1968.
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Benichou, B., Kyndt, F., Schott, J.-J., Trochu, J.-N., Baranger, F., Herbert, O., Scott, V., Fressinaud, E., David, A., Moisan, J.-P., Bouhour, J.-B., Le Marec, H.
|
|
<strong>Mapping of X-linked valvular dysplasia to chromosome Xq28. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 61 (suppl.): A268 only, 1997.
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|
|
</p>
|
|
</li>
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Byers, P. H.
|
|
<strong>Personal Communication.</strong>
|
|
Seattle, Wash. 1980.
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|
|
|
</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Di Ferrante, N., Leachman, R. D., Angelini, P., Donnelly, P. V., Francis, G., Almazan, A., segni, G.
|
|
<strong>Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V.</strong>
|
|
Connect. Tissue Res. 3: 49-53, 1975.
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[PubMed: 240645]
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[Full Text: https://doi.org/10.3109/03008207509152341]
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</p>
|
|
</li>
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Kyndt, F., Gueffet, J.-P., Probst, V., Jaafar, P., Legendre, A., Le Bouffant, F., Toquet, C., Roy, E., McGregor, L., Lynch, S. A., Newbury-Ecob, R., Tran, V., Young, I., Trochu, J.-N., Le Marec, H., Schott, J.-J.
|
|
<strong>Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.</strong>
|
|
Circulation 115: 40-49, 2007.
|
|
|
|
|
|
[PubMed: 17190868]
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|
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[Full Text: https://doi.org/10.1161/CIRCULATIONAHA.106.622621]
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</p>
|
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</li>
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Kyndt, F., Schott, J.-J., Trochu, J.-N., Baranger, F., Herbert, O., Scott, V., Fressinaud, E., David, A., Moisan, J.-P., Bouhour, J.-B., Le Marec, H., Benichou, B.
|
|
<strong>Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28.</strong>
|
|
Am. J. Hum. Genet. 62: 627-632, 1998.
|
|
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|
|
[PubMed: 9497244]
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|
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[Full Text: https://doi.org/10.1086/301747]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Malfait, F., Francomano, C., Byers, P., Belmont,, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., Castori, M., Cohen, H., and 33 others.
|
|
<strong>The 2017 international classification of the Ehlers-Danlos syndromes.</strong>
|
|
Am. J. Med. Genet. 175C: 8-26, 2017.
|
|
|
|
|
|
[PubMed: 28306229]
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|
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[Full Text: https://doi.org/10.1002/ajmg.c.31552]
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mercer, C. L., Andreoletti, G., Carroll, A., Salmon, A. P., Temple, I. K., Ennis, S.
|
|
<strong>Familial Ebstein anomaly: whole exome sequencing identifies novel phenotype associated with FLNA.</strong>
|
|
Circ. Cardiovasc. Genet. 10: e001683, 2017. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 29237676]
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|
|
[Full Text: https://doi.org/10.1161/CIRCGENETICS.116.001683]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Monteleone, P. L., Fagan, L. F.
|
|
<strong>Possible X-linked congenital heart disease.</strong>
|
|
Circulation 39: 611-614, 1969.
|
|
|
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|
|
[PubMed: 5787314]
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|
[Full Text: https://doi.org/10.1161/01.cir.39.5.611]
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Newbury-Ecob, R. A., Zuccollo, J. M., Rutter, N., Young, I. D.
|
|
<strong>Sex linked valvular dysplasia.</strong>
|
|
J. Med. Genet. 30: 873-874, 1993.
|
|
|
|
|
|
[PubMed: 8230166]
|
|
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|
|
[Full Text: https://doi.org/10.1136/jmg.30.10.873]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Read, R. C., Thal, A. P., Wendt, V. E.
|
|
<strong>Symptomatic valvular myxomatous transformation (the floppy valve syndrome). A possible forme fruste of the Marfan syndrome.</strong>
|
|
Circulation 32: 897-910, 1965.
|
|
|
|
|
|
[PubMed: 5845248]
|
|
|
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|
|
[Full Text: https://doi.org/10.1161/01.cir.32.6.897]
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Ritelli, M., Morlino, S., Giacopuzzi, E., Carini, G., Cinquina, V., Chiarelli, N., Majore, S., Colombi, M., Castori, M.
|
|
<strong>Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.</strong>
|
|
Am. J. Med. Genet. 173A: 169-176, 2017.
|
|
|
|
|
|
[PubMed: 27739212]
|
|
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|
|
[Full Text: https://doi.org/10.1002/ajmg.a.38004]
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</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Siegel, R. C., Black, C. M., Bailey, A. J.
|
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<strong>Cross-linking of collagen in the X-linked Ehlers-Danlos type V.</strong>
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Biochem. Biophys. Res. Commun. 88: 281-287, 1979.
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[PubMed: 36897]
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[Full Text: https://doi.org/10.1016/0006-291x(79)91727-3]
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Steinmann, B., Royce, P. M., Superti-Furga, A.
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<strong>The Ehlers-Danlos syndrome.In: Royce, P. M.; Steinmann, B. (eds.) : Connective Tissue and its Heritable Disorders: Molecular, Genetic, and Medical Aspects. (2nd ed.)</strong>
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New York: Wiley Liss (pub.) 2002. Pp. 431-524.
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