3679 lines
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Entry
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- #123700 - CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1
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- OMIM
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<p>
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<span class="h4">#123700</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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</li>
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<li role="presentation">
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<a href="/clinicalSynopsis/123700"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS123700"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</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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<li role="presentation">
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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><a href="https://clinicaltrials.gov/search?cond=CUTIS LAXA, AUTOSOMAL DOMINANT" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12024&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK584550/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=123700[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90348" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/f9675b43-46c2-40cb-a9cf-8dd167f450e7/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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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>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0070130" 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/123700" 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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 90348<br />
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<strong>DO:</strong> 0070130<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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123700
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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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CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1
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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="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/7/331?start=-3&limit=10&highlight=331">
|
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7q11.23
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Cutis laxa, autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/123700"> 123700 </a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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ELN
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/130160"> 130160 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/123700" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<div class="btn-group">
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<a href="/phenotypicSeries/PS123700" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
|
</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/123700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/123700" 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>
|
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<p />
|
|
</div>
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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|
|
</span>
|
|
</div>
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</div>
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</div>
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|
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<div>
|
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<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">
|
|
|
|
- Premature aged appearance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857710</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005328" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005328</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005328" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005328</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">
|
|
|
|
- Mitral valve 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 valve regurgitation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60234000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60234000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003504&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003504</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001659</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001659</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Lung </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Emphysema <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49158009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49158009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87433001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87433001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J43.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J43.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/J43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J43</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/492" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">492</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013990</a>, <a href="https://bioportal.bioontology.org/search?q=C0034067&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034067</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002097</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002097</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Inguinal hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396232000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396232000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K40.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">550</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019294</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cutis laxa <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 /> -
|
|
Loose redundant skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/201093004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">201093004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0581342&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0581342</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001582</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001582</a>]</span><br /> -
|
|
Skin lacks elastic recoil <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675740&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675740</a>]</span><br /> -
|
|
Excessive skin folds <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673772</a>]</span><br /> -
|
|
No skin hyperelasticity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673773&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673773</a>]</span><br /> -
|
|
Normal wound healing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863751&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863751</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin Histology </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sparse, fragmented elastic fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675741&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675741</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
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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> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Genetic heterogeneity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br /> -
|
|
Onset of skin manifestations from birth to puberty<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the elastin gene (ELN, <a href="/entry/130160#0008">130160.0008</a>)<br /> -
|
|
Caused by mutation in the fibulin 5 gene (FBLN5, <a href="/entry/604580#0001">604580.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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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 id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Cutis laxa
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- <a href="/phenotypicSeries/PS123700">PS123700</a>
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- 14 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
|
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<tbody>
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|
|
<tr>
|
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<td>
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|
<span class="mim-font">
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<a href="/geneMap/2/176?start=-3&limit=10&highlight=176"> 2p22.3 </a>
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|
</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619451"> Cutis laxa, autosomal recessive, type IIE </a>
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</span>
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|
</td>
|
|
<td>
|
|
<span class="mim-font">
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|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619451"> 619451 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150390"> LTBP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150390"> 150390 </a>
|
|
</span>
|
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</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<a href="/geneMap/2/270?start=-3&limit=10&highlight=270"> 2p16.1 </a>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620780"> Cutis laxa, autosomal recessive, type ID </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620780"> 620780 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601548"> EFEMP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601548"> 601548 </a>
|
|
</span>
|
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</td>
|
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</tr>
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<a href="/geneMap/3/558?start=-3&limit=10&highlight=558"> 3q13.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617403"> Cutis laxa, autosomal recessive, type IID </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617403"> 617403 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607027"> ATP6V1A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607027"> 607027 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/331?start=-3&limit=10&highlight=331"> 7q11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123700"> Cutis laxa, autosomal dominant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123700"> 123700 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/130160"> ELN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/130160"> 130160 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/427?start=-3&limit=10&highlight=427"> 10q24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/219150"> Cutis laxa, autosomal recessive, type IIIA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/219150"> 219150 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138250"> ALDH18A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138250"> 138250 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/427?start=-3&limit=10&highlight=427"> 10q24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616603"> Cutis laxa, autosomal dominant 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616603"> 616603 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138250"> ALDH18A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138250"> 138250 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/611?start=-3&limit=10&highlight=611"> 11q13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614437"> Cutis laxa, autosomal recessive, type IB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614437"> 614437 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604633"> EFEMP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604633"> 604633 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/935?start=-3&limit=10&highlight=935"> 12q24.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/219200"> Cutis laxa, autosomal recessive, type IIA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/219200"> 219200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611716"> ATP6V0A2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611716"> 611716 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/464?start=-3&limit=10&highlight=464"> 14q32.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614434"> ?Cutis laxa, autosomal dominant 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614434"> 614434 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604580"> FBLN5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604580"> 604580 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/464?start=-3&limit=10&highlight=464"> 14q32.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/219100"> Cutis laxa, autosomal recessive, type IA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/219100"> 219100 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604580"> FBLN5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604580"> 604580 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/1051?start=-3&limit=10&highlight=1051"> 17q25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614438"> Cutis laxa, autosomal recessive, type IIIB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614438"> 614438 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/179035"> PYCR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/179035"> 179035 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/1051?start=-3&limit=10&highlight=1051"> 17q25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612940"> Cutis laxa, autosomal recessive, type IIB </a>
|
|
</span>
|
|
</td>
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<p>A number sign (#) is used with this entry because autosomal dominant cutis laxa-1 (ADCL1) is caused by heterozygous mutations in the elastin gene (ELN; <a href="/entry/130160">130160</a>) on chromosome 7q11.</p>
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<p>Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see <a href="/entry/130000">130000</a>). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by <a href="#5" class="mim-tip-reference" title="Davidson, J. M., Giro, M. <strong>Cutis laxa and premature aging syndromes.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. 525-560."None>Davidson and Giro, 2002</a>).</p><p>Autosomal dominant congenital cutis laxa (ADCL) is genetically heterogeneous and shows clinical variability. The characteristic loose skin may be accompanied by gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema (summary by <a href="#7" class="mim-tip-reference" title="Graul-Neumann, L. M., Hausser, I., Essayie, M., Rauch, A., Kraus, C. <strong>Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.</strong> Am. J. Med. Genet. 146A: 977-983, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18348261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18348261</a>] [<a href="https://doi.org/10.1002/ajmg.a.32242" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18348261">Graul-Neumann et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18348261" 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>Loose, inelastic skin is a clinical feature of many disorders, e.g., geroderma osteodysplasticum (GO; <a href="/entry/231070">231070</a>) and Costello syndrome (<a href="/entry/218040">218040</a>).</p><p>For a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (<a href="/entry/219100">219100</a>).</p><p><strong><em>Genetic Heterogeneity of Autosomal Dominant Cutis Laxa</em></strong></p><p>
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Also see ADCL2 (<a href="/entry/614434">614434</a>), caused by mutation in the FBLN5 gene (<a href="/entry/604580">604580</a>) on chromosome 14q32, and ADCL3 (<a href="/entry/616603">616603</a>), caused by mutation in the ALDH18A1 (<a href="/entry/138250">138250</a>) gene on chromosome 10q24.</p>
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<p><a href="#15" class="mim-tip-reference" title="Sestak, Z. <strong>Ehlers-Danlos syndrome and cutis laxa: an account of families in the Oxford area.</strong> Ann. Hum. Genet. 25: 313-321, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13910947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13910947</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1962.tb01768.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13910947">Sestak (1962)</a> reported a father and daughter with cutis laxa. <a href="#6" class="mim-tip-reference" title="Goltz, R. W. <strong>Personal Communication.</strong> Denver, Colo. 1966."None>Goltz (1966)</a> studied a family with affected persons in successive generations. <a href="#1" class="mim-tip-reference" title="Balboni, F. A. <strong>Cutis laxa and multiple vascular anomalies including multiple coarctation of the aorta: a case report.</strong> St. Francis Hosp. Bull. 19: 26-35, 1963."None>Balboni (1963)</a> described a child with typical cutis laxa and multiple vascular anomalies including coarctation of the aorta. The father and a paternal uncle were thought to have the same condition. <a href="#2" class="mim-tip-reference" title="Beighton, P. H. <strong>The dominant and recessive forms of cutis laxa.</strong> J. Med. Genet. 9: 216-221, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5046633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5046633</a>] [<a href="https://doi.org/10.1136/jmg.9.2.216" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5046633">Beighton (1972)</a> described 2 pedigrees with 2 or more generations affected. In each pedigree there was an instance of male-to-male transmission. In each case, however, the relevant males were not examined by the author. In the early report of <a href="#9" class="mim-tip-reference" title="Kopp, W. <strong>Demonstration zweier Faelle von 'cutis laxa'.</strong> Muench. Med. Wschr. 35: 259 only, 1888."None>Kopp (1888)</a>, the father had onset of cutis laxa at age 16, and in the son cutis laxa was present at birth. Other 'dominant' pedigrees were reported by <a href="#10" class="mim-tip-reference" title="Lewis, E. <strong>Cutis laxa.</strong> Proc. Roy. Soc. Med. 41: 864 only, 1948."None>Lewis (1948)</a> (mother and daughter), <a href="#12" class="mim-tip-reference" title="Reidy, J. P. <strong>Cutis hyperelastica (Ehlers-Danlos) and cutis laxa.</strong> Brit. J. Plast. Surg. 16: 84-94, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13973774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13973774</a>] [<a href="https://doi.org/10.1016/s0007-1226(63)80083-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13973774">Reidy (1963)</a> (father and daughter), and <a href="#13" class="mim-tip-reference" title="Schreiber, M. M., Tilley, J. C. <strong>Cutis laxa.</strong> Arch. Derm. 84: 266-272, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13748595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13748595</a>] [<a href="https://doi.org/10.1001/archderm.1961.01580140092012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13748595">Schreiber and Tilley (1961)</a> (4 generations). (Another of the families reported by <a href="#13" class="mim-tip-reference" title="Schreiber, M. M., Tilley, J. C. <strong>Cutis laxa.</strong> Arch. Derm. 84: 266-272, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13748595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13748595</a>] [<a href="https://doi.org/10.1001/archderm.1961.01580140092012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13748595">Schreiber and Tilley (1961)</a>, viz., no. 1, had the acromegaloid syndrome (<a href="/entry/102100">102100</a>).) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13973774+13748595+13910947+5046633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Damkier, A., Brandrup, F., Starklint, H. <strong>Cutis laxa: autosomal dominant inheritance in five generations.</strong> Clin. Genet. 39: 321-329, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1907230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1907230</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1991.tb03038.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1907230">Damkier et al. (1991)</a> described cutis laxa in 6 members of 5 generations. All were female except for the proband, a 17-year-old man in the most recent generation. The onset of skin manifestations occurred between puberty and early adulthood. In the man's mother and maternal grandmother, numerous gastrointestinal diverticula were demonstrated, and both had been operated on for abdominal hernia and genital prolapse. There were no cardiopulmonary symptoms. <a href="#11" class="mim-tip-reference" title="Marchase, P., Holbrook, K., Pinnell, S. R. <strong>A familial cutis laxa syndrome with ultrastructural abnormalities of collagen and elastin.</strong> J. Invest. Derm. 75: 399-403, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7430706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7430706</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12523655" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7430706">Marchase et al. (1980)</a> described a mother and son with cutis laxa and concluded that there were abnormalities in both elastic tissue and collagen. The son had Klippel-Trenaunay-Weber syndrome (<a href="/entry/149000">149000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1907230+7430706" 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>An acquired form of cutis laxa, called generalized elastolysis, has been described in at least 17 cases (<a href="#8" class="mim-tip-reference" title="Harris, R. B., Heaphy, M. R., Perry, H. O. <strong>Generalized elastolysis (cutis laxa).</strong> Am. J. Med. 65: 815-822, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/707540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">707540</a>] [<a href="https://doi.org/10.1016/0002-9343(78)90801-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="707540">Harris et al., 1978</a>). In this disorder elastic fibers rather abruptly become fragmented, disorganized and scarce with resultant emphysema, aortic aneurysm and bowel diverticula, in addition to cutis laxa. An erythematous rash suggesting penicillin reaction occurred at the onset of elastolysis in some patients. Hiatal and other hernias and rupture of patellar tendons were also noted. It is well to remember that cutis laxa can be acquired as an autoimmune process (<a href="#18" class="mim-tip-reference" title="Tsuji, T., Imajo, Y., Sawabe, M., Kuniyuki, S., Ishii, M., Hamada, T., Ishimura, E., Hamada, N., Nishisawa, Y., Morii, H. <strong>Acquired cutis laxa concomitant with nephrotic syndrome.</strong> Arch. Derm. 123: 1211-1216, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3307640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3307640</a>]" pmid="3307640">Tsuji et al., 1987</a>). Other phenocopies of genetic disorders on the basis of autoimmune mechanisms are represented by acquired von Willebrand disease (see <a href="/entry/193400">193400</a>) and congenital heart block (<a href="/entry/234700">234700</a>) occurring in the offspring of mothers with systemic lupus erythematosus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=707540+3307640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Corbett, E., Glaisyer, H., Chan, C., Madden, B., Khaghani, A., Yacoub, M. <strong>Congenital cutis laxa with a dominant inheritance and early onset emphysema.</strong> Thorax 49: 836-837, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8091333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8091333</a>] [<a href="https://doi.org/10.1136/thx.49.8.836" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8091333">Corbett et al. (1994)</a> described a 51-year-old mother and her 23-year-old daughter with congenital cutis laxa and early-onset emphysema. Both mother and daughter had been smokers and were heterozygous (MZ) for alpha-1-antitrypsin deficiency (<a href="/entry/613490">613490</a>). <a href="#19" class="mim-tip-reference" title="Urban, Z., Gao, J., Pope, F. M., Davis, E. C. <strong>Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.</strong> J. Invest. Derm. 124: 1193-1199, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15955094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15955094</a>] [<a href="https://doi.org/10.1111/j.0022-202X.2005.23758.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15955094">Urban et al. (2005)</a> provided follow-up on the family described by <a href="#3" class="mim-tip-reference" title="Corbett, E., Glaisyer, H., Chan, C., Madden, B., Khaghani, A., Yacoub, M. <strong>Congenital cutis laxa with a dominant inheritance and early onset emphysema.</strong> Thorax 49: 836-837, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8091333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8091333</a>] [<a href="https://doi.org/10.1136/thx.49.8.836" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8091333">Corbett et al. (1994)</a>: the mother's pulmonary disease progressed to end-stage respiratory failure requiring double lung transplant, and she died at age 61 of renal failure secondary to immunosuppressant treatment. The maternal grandmother, originally reported by <a href="#2" class="mim-tip-reference" title="Beighton, P. H. <strong>The dominant and recessive forms of cutis laxa.</strong> J. Med. Genet. 9: 216-221, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5046633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5046633</a>] [<a href="https://doi.org/10.1136/jmg.9.2.216" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5046633">Beighton (1972)</a>, had congenital cutis laxa and later developed an inguinal hernia, uterine prolapse, dyspnea, and bronchiectasis. The maternal great-grandmother, an uncle, and a cousin were also reportedly affected by cutis laxa, but were unavailable for examination. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15955094+5046633+8091333" 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="#17" class="mim-tip-reference" title="Tassabehji, M., Metcalfe, K., Hurst, J., Ashcroft, G. S., Kielty, C., Wilmot, C., Donnai, D., Read, A. P., Jones, C. J. P. <strong>An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa.</strong> Hum. Molec. Genet. 7: 1021-1028, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9580666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9580666</a>] [<a href="https://doi.org/10.1093/hmg/7.6.1021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9580666">Tassabehji et al. (1998)</a> reported a 37-year-old Caucasian woman with cutis laxa who underwent her first facial cosmetic surgery at 4 years of age, with 6 subsequent operations. Bilateral herniorraphies were performed at 7 years of age. A cardiac murmur was noted at 4 years of age, and when she presented with reduced exercise tolerance at 19 years, right ventricular hypertrophy was noted. Right ventricular angiography showed hypertrophy of the infundibulum with angiographic narrowing. There were multiple peripheral pulmonary stenoses, including stenoses in very small vessels. The father, described by <a href="#12" class="mim-tip-reference" title="Reidy, J. P. <strong>Cutis hyperelastica (Ehlers-Danlos) and cutis laxa.</strong> Brit. J. Plast. Surg. 16: 84-94, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13973774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13973774</a>] [<a href="https://doi.org/10.1016/s0007-1226(63)80083-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13973774">Reidy (1963)</a>, had loose skin on his chest, forearms, and abdomen in addition to facial drooping, and had 2 cosmetic operations in his teenage years. He had required an inguinal herniorraphy, but apart from venous thrombosis at the age of 50 years, had remained in good health. The proband had suffered from Raynaud phenomenon since late adolescence. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13973774+9580666" 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="#22" class="mim-tip-reference" title="Zhang, M.-C., He, L., Giro, M., Yong, S. L., Tiller, G. E., Davidson, J. M. <strong>Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN).</strong> J. Biol. Chem. 274: 981-986, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9873040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9873040</a>] [<a href="https://doi.org/10.1074/jbc.274.2.981" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9873040">Zhang et al. (1999)</a> provided clinical information on a patient with cutis laxa in whom <a href="#21" class="mim-tip-reference" title="Zhang, M. C., He, L., Yong, S. L., Tiller, G. E., Davidson, J. M. <strong>Cutis laxa arising from a frame shift mutation in the elastin gene (ELN). (Abstract)</strong> Am. J. Hum. Genet. 61 (suppl.): A353 only, 1997."None>Zhang et al. (1997)</a> had identified heterozygosity for a 2012G deletion in the ELN gene (<a href="/entry/130160#0008">130160.0008</a>). Loose skin, stridor, and feeding difficulties were apparent from birth. Additional clinical findings ascertained during infancy included moderate subglottic stenosis with floppy airway structures, redundant mitral and tricuspid valves, mild dilatation of the proximal aorta and great vessels, and umbilical and inguinal hernias. He underwent inguinal herniorrhaphies at ages 7 months, 3 years, and 14 years. At age 17 years, his height and weight were at the 75th percentile. Physical examination showed an aged appearance, with smooth, loose skin lacking elastic recoil; tortuous, pulsatile external carotid arteries; and a hoarse voice. He complained of fatigue, dyspnea on exertion, and shortness of breath. Aortic root dilatation was described as minimal. Pulmonary function testing showed reduced expiratory flow, suggestive of fixed or collapsible upper airway obstruction. Histologically, dermal collagen fibers appeared normal, but elastic fibers appeared fragmented with a paucity of amorphous elastin in the matrix. Tropoelastin production in cultured fibroblasts from this patient was the lowest of 6 cutis laxa patients studied (<a href="#14" class="mim-tip-reference" title="Sephel, G. C., Byers, P. H., Holbrook, K. A., Davidson, J. M. <strong>Heterogeneity of elastin expression in cutis laxa fibroblast strains.</strong> J. Invest. Derm. 93: 147-153, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2745999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2745999</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12277389" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2745999">Sephel et al., 1989</a>), and an apparent nonspecific increase in type VI collagen (<a href="/entry/120220">120220</a>) production was noted. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2745999+9873040" 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="#16" class="mim-tip-reference" title="Szabo, Z., Crepeau, M. W., Mitchell, A. L., Stephan, M. J., Puntel, R. A., Loke, K. Y., Kirk, R. C., Urban, Z. <strong>Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. (Letter)</strong> J. Med. Genet. 43: 255-258, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16085695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16085695</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16085695[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2005.034157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16085695">Szabo et al. (2006)</a> reported a 3-generation family of Japanese and German ancestry and an unrelated Singaporean girl of Chinese descent with cutis laxa and aortic aneurysmal disease. The proband in the Japanese-German family was an 11-year-old girl who, along with her paternal grandmother, had a mildly dilated aortic root, mild aortic insufficiency, and obvious cutis laxa. Her 38-year-old father had a large aneurysm of the sinuses of Valsalva and ascending aorta, requiring grafting and valve replacement; he had barely noticeable skin laxity. His brother, the proband's uncle, died at age 26 of aortic dissection with no other apparent systemic involvement or skin laxity. Histologic examination of aneurysmal tissue from this patient revealed medial degeneration characterized by a dramatic loss of the elastic lamellae and smooth muscle cells and a lack of atherosclerotic and inflammatory lesions. The daughter of the deceased brother, the proband's cousin, had cutis laxa and mild aortic dilation. The proband and her father and grandmother all had inguinal hernias repaired surgically. The unrelated Singaporean girl, who had no family history of cutis laxa, was noted at birth to have marked laxity of the skin. An echocardiogram at age 5 showed significant dilation of the aortic root at the level of the sinuses of Valsalva. <a href="#16" class="mim-tip-reference" title="Szabo, Z., Crepeau, M. W., Mitchell, A. L., Stephan, M. J., Puntel, R. A., Loke, K. Y., Kirk, R. C., Urban, Z. <strong>Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. (Letter)</strong> J. Med. Genet. 43: 255-258, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16085695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16085695</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16085695[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2005.034157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16085695">Szabo et al. (2006)</a> concluded that severe aortic disease may be present in patients with cutis laxa and that regular cardiac monitoring is necessary to avert fatal aortic rupture. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16085695" 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="Graul-Neumann, L. M., Hausser, I., Essayie, M., Rauch, A., Kraus, C. <strong>Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.</strong> Am. J. Med. Genet. 146A: 977-983, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18348261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18348261</a>] [<a href="https://doi.org/10.1002/ajmg.a.32242" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18348261">Graul-Neumann et al. (2008)</a> described a boy with autosomal dominant severe cutis laxa, severe congenital pulmonary disease, which had not previously been reported in ADCL, and supravalvular pulmonary artery stenosis. He was the first child born to unrelated parents. Physical examination at birth revealed generalized loose skin, inguinal and umbilical hernias, and hypotonia. Immediately after birth, he developed respiratory distress syndrome characterized by repeated pneumothoraces and emphysema. At 7 months of age, he developed infantile spasms (<a href="/entry/308350">308350</a>). At 15 months, he was able to vocalize but could only sit with support. His father had a grade 1 aortic valvular insufficiency but did not show any signs of cutis laxa with normal elasticity and recoil of the skin. Electron microscopy of the proband's skin demonstrated only mild rarefication of elastic fibers (in contrast to most recessive cutis laxa types). No mutations were found in the FBLN4 (<a href="/entry/604633">604633</a>) or FBLN5 genes. A novel heterozygous splice site mutation in the ELN gene (<a href="/entry/130160#0019">130160.0019</a>) was detected in the proband and his clinically healthy father. <a href="#7" class="mim-tip-reference" title="Graul-Neumann, L. M., Hausser, I., Essayie, M., Rauch, A., Kraus, C. <strong>Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.</strong> Am. J. Med. Genet. 146A: 977-983, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18348261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18348261</a>] [<a href="https://doi.org/10.1002/ajmg.a.32242" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18348261">Graul-Neumann et al. (2008)</a> concluded that the variable processing of an identically mutated gene (dominant-negative in the child and haploinsufficiency in the father) caused the highly variable clinical appearance of ADCL in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18348261" 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>The transmission pattern of ADCL1 in the families reported by <a href="#19" class="mim-tip-reference" title="Urban, Z., Gao, J., Pope, F. M., Davis, E. C. <strong>Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.</strong> J. Invest. Derm. 124: 1193-1199, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15955094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15955094</a>] [<a href="https://doi.org/10.1111/j.0022-202X.2005.23758.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15955094">Urban et al. (2005)</a> and <a href="#16" class="mim-tip-reference" title="Szabo, Z., Crepeau, M. W., Mitchell, A. L., Stephan, M. J., Puntel, R. A., Loke, K. Y., Kirk, R. C., Urban, Z. <strong>Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. (Letter)</strong> J. Med. Genet. 43: 255-258, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16085695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16085695</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16085695[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2005.034157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16085695">Szabo et al. (2006)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16085695+15955094" 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>Zhang et al. (<a href="#21" class="mim-tip-reference" title="Zhang, M. C., He, L., Yong, S. L., Tiller, G. E., Davidson, J. M. <strong>Cutis laxa arising from a frame shift mutation in the elastin gene (ELN). (Abstract)</strong> Am. J. Hum. Genet. 61 (suppl.): A353 only, 1997."None>1997</a>, <a href="#22" class="mim-tip-reference" title="Zhang, M.-C., He, L., Giro, M., Yong, S. L., Tiller, G. E., Davidson, J. M. <strong>Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN).</strong> J. Biol. Chem. 274: 981-986, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9873040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9873040</a>] [<a href="https://doi.org/10.1074/jbc.274.2.981" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9873040">1999</a>) and <a href="#17" class="mim-tip-reference" title="Tassabehji, M., Metcalfe, K., Hurst, J., Ashcroft, G. S., Kielty, C., Wilmot, C., Donnai, D., Read, A. P., Jones, C. J. P. <strong>An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa.</strong> Hum. Molec. Genet. 7: 1021-1028, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9580666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9580666</a>] [<a href="https://doi.org/10.1093/hmg/7.6.1021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9580666">Tassabehji et al. (1998)</a> independently described patients with autosomal dominant cutis laxa and mutations in the elastin gene (see <a href="/entry/130160#0008">130160.0008</a>-<a href="/entry/130160#0010">130160.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9580666+9873040" 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 the mother and daughter with cutis laxa and severe pulmonary disease described by <a href="#2" class="mim-tip-reference" title="Beighton, P. H. <strong>The dominant and recessive forms of cutis laxa.</strong> J. Med. Genet. 9: 216-221, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5046633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5046633</a>] [<a href="https://doi.org/10.1136/jmg.9.2.216" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5046633">Beighton (1972)</a> and <a href="#3" class="mim-tip-reference" title="Corbett, E., Glaisyer, H., Chan, C., Madden, B., Khaghani, A., Yacoub, M. <strong>Congenital cutis laxa with a dominant inheritance and early onset emphysema.</strong> Thorax 49: 836-837, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8091333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8091333</a>] [<a href="https://doi.org/10.1136/thx.49.8.836" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8091333">Corbett et al. (1994)</a>, <a href="#19" class="mim-tip-reference" title="Urban, Z., Gao, J., Pope, F. M., Davis, E. C. <strong>Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.</strong> J. Invest. Derm. 124: 1193-1199, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15955094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15955094</a>] [<a href="https://doi.org/10.1111/j.0022-202X.2005.23758.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15955094">Urban et al. (2005)</a> identified no mutations in the elastin gene by direct sequencing, but detected an abnormal protein in cultured dermal fibroblasts using metabolic labeling and immunoprecipitation. Mutation and gene expression analyses established the presence of a complex tandem duplication in the elastin gene (<a href="/entry/130160#0016">130160.0016</a>). Immunoprecipitation showed that the mutant tropoelastin was partially secreted and partially retained intracellularly; a polyclonal antibody raised against a unique peptide in the mutant molecule showed both intracellular and matrix staining. <a href="#19" class="mim-tip-reference" title="Urban, Z., Gao, J., Pope, F. M., Davis, E. C. <strong>Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.</strong> J. Invest. Derm. 124: 1193-1199, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15955094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15955094</a>] [<a href="https://doi.org/10.1111/j.0022-202X.2005.23758.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15955094">Urban et al. (2005)</a> concluded that mutations in the elastin gene can cause cutis laxa associated with a severe pulmonary phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8091333+15955094+5046633" 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 affected members of a 3-generation family of Japanese and German ancestry and an unrelated Singaporean girl of Chinese descent with cutis laxa and aortic aneurysmal disease, <a href="#16" class="mim-tip-reference" title="Szabo, Z., Crepeau, M. W., Mitchell, A. L., Stephan, M. J., Puntel, R. A., Loke, K. Y., Kirk, R. C., Urban, Z. <strong>Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. (Letter)</strong> J. Med. Genet. 43: 255-258, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16085695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16085695</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16085695[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2005.034157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16085695">Szabo et al. (2006)</a> identified heterozygosity for a 25-bp deletion (<a href="/entry/130160#0017">130160.0017</a>) and a 1-bp deletion (<a href="/entry/130160#0018">130160.0018</a>) in the ELN gene, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16085695" 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="#20" class="mim-tip-reference" title="Wiener, K. <strong>Gummihaut (cutis laxa) mit dominanter Vererbung.</strong> Arch. Derm. Syph. 148: 599-601, 1925."None>Wiener (1925)</a> reported dominant inheritance of cutis laxa, but <a href="#2" class="mim-tip-reference" title="Beighton, P. H. <strong>The dominant and recessive forms of cutis laxa.</strong> J. Med. Genet. 9: 216-221, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5046633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5046633</a>] [<a href="https://doi.org/10.1136/jmg.9.2.216" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5046633">Beighton (1972)</a> concluded that the family reported by <a href="#20" class="mim-tip-reference" title="Wiener, K. <strong>Gummihaut (cutis laxa) mit dominanter Vererbung.</strong> Arch. Derm. Syph. 148: 599-601, 1925."None>Wiener (1925)</a> had the Ehlers-Danlos syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5046633" 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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<a id="1" class="mim-anchor"></a>
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<a id="Balboni1963" class="mim-anchor"></a>
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Balboni, F. A.
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<strong>Cutis laxa and multiple vascular anomalies including multiple coarctation of the aorta: a case report.</strong>
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St. Francis Hosp. Bull. 19: 26-35, 1963.
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Beighton, P. H.
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<strong>The dominant and recessive forms of cutis laxa.</strong>
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J. Med. Genet. 9: 216-221, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5046633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5046633</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5046633" 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.9.2.216" target="_blank">Full Text</a>]
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<a id="Corbett1994" class="mim-anchor"></a>
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Corbett, E., Glaisyer, H., Chan, C., Madden, B., Khaghani, A., Yacoub, M.
|
|
<strong>Congenital cutis laxa with a dominant inheritance and early onset emphysema.</strong>
|
|
Thorax 49: 836-837, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8091333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8091333</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8091333" 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/thx.49.8.836" target="_blank">Full Text</a>]
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<a id="Damkier1991" class="mim-anchor"></a>
|
|
<div class="">
|
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<p class="mim-text-font">
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Damkier, A., Brandrup, F., Starklint, H.
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<strong>Cutis laxa: autosomal dominant inheritance in five generations.</strong>
|
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Clin. Genet. 39: 321-329, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1907230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1907230</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1907230" 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.1399-0004.1991.tb03038.x" target="_blank">Full Text</a>]
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Davidson, J. M., Giro, M.
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<strong>Cutis laxa and premature aging syndromes.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. 525-560.
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Goltz, R. W.
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<strong>Personal Communication.</strong>
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Denver, Colo. 1966.
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Graul-Neumann, L. M., Hausser, I., Essayie, M., Rauch, A., Kraus, C.
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<strong>Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.</strong>
|
|
Am. J. Med. Genet. 146A: 977-983, 2008.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18348261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18348261</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18348261" 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.32242" target="_blank">Full Text</a>]
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<a id="Harris1978" class="mim-anchor"></a>
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Harris, R. B., Heaphy, M. R., Perry, H. O.
|
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<strong>Generalized elastolysis (cutis laxa).</strong>
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Am. J. Med. 65: 815-822, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/707540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">707540</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=707540" 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/10.1016/0002-9343(78)90801-x" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Kopp1888" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kopp, W.
|
|
<strong>Demonstration zweier Faelle von 'cutis laxa'.</strong>
|
|
Muench. Med. Wschr. 35: 259 only, 1888.
|
|
|
|
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</p>
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</div>
|
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</li>
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<a id="Lewis1948" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
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Lewis, E.
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<strong>Cutis laxa.</strong>
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Proc. Roy. Soc. Med. 41: 864 only, 1948.
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<a id="Marchase1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Marchase, P., Holbrook, K., Pinnell, S. R.
|
|
<strong>A familial cutis laxa syndrome with ultrastructural abnormalities of collagen and elastin.</strong>
|
|
J. Invest. Derm. 75: 399-403, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7430706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7430706</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7430706" 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/10.1111/1523-1747.ep12523655" target="_blank">Full Text</a>]
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<a id="Reidy1963" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Reidy, J. P.
|
|
<strong>Cutis hyperelastica (Ehlers-Danlos) and cutis laxa.</strong>
|
|
Brit. J. Plast. Surg. 16: 84-94, 1963.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13973774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13973774</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13973774" 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/s0007-1226(63)80083-1" target="_blank">Full Text</a>]
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<a id="Schreiber1961" class="mim-anchor"></a>
|
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<div class="">
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<p class="mim-text-font">
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Schreiber, M. M., Tilley, J. C.
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<strong>Cutis laxa.</strong>
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Arch. Derm. 84: 266-272, 1961.
|
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|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13748595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13748595</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13748595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archderm.1961.01580140092012" target="_blank">Full Text</a>]
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<a id="Sephel1989" class="mim-anchor"></a>
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<p class="mim-text-font">
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Sephel, G. C., Byers, P. H., Holbrook, K. A., Davidson, J. M.
|
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<strong>Heterogeneity of elastin expression in cutis laxa fibroblast strains.</strong>
|
|
J. Invest. Derm. 93: 147-153, 1989.
|
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2745999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2745999</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2745999" 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/10.1111/1523-1747.ep12277389" target="_blank">Full Text</a>]
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<a id="Sestak1962" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sestak, Z.
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<strong>Ehlers-Danlos syndrome and cutis laxa: an account of families in the Oxford area.</strong>
|
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Ann. Hum. Genet. 25: 313-321, 1962.
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13910947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13910947</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13910947" 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.1469-1809.1962.tb01768.x" target="_blank">Full Text</a>]
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Szabo, Z., Crepeau, M. W., Mitchell, A. L., Stephan, M. J., Puntel, R. A., Loke, K. Y., Kirk, R. C., Urban, Z.
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<strong>Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. (Letter)</strong>
|
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J. Med. Genet. 43: 255-258, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16085695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16085695</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16085695[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16085695" 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.2005.034157" target="_blank">Full Text</a>]
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<a id="Tassabehji1998" class="mim-anchor"></a>
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Tassabehji, M., Metcalfe, K., Hurst, J., Ashcroft, G. S., Kielty, C., Wilmot, C., Donnai, D., Read, A. P., Jones, C. J. P.
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<strong>An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa.</strong>
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Hum. Molec. Genet. 7: 1021-1028, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9580666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9580666</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9580666" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/7.6.1021" target="_blank">Full Text</a>]
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<a id="Tsuji1987" class="mim-anchor"></a>
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Tsuji, T., Imajo, Y., Sawabe, M., Kuniyuki, S., Ishii, M., Hamada, T., Ishimura, E., Hamada, N., Nishisawa, Y., Morii, H.
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<strong>Acquired cutis laxa concomitant with nephrotic syndrome.</strong>
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Arch. Derm. 123: 1211-1216, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3307640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3307640</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3307640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Urban, Z., Gao, J., Pope, F. M., Davis, E. C.
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<strong>Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.</strong>
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J. Invest. Derm. 124: 1193-1199, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15955094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15955094</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15955094" 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.0022-202X.2005.23758.x" target="_blank">Full Text</a>]
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Wiener, K.
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<strong>Gummihaut (cutis laxa) mit dominanter Vererbung.</strong>
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Arch. Derm. Syph. 148: 599-601, 1925.
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<a id="Zhang1997" class="mim-anchor"></a>
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Zhang, M. C., He, L., Yong, S. L., Tiller, G. E., Davidson, J. M.
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<strong>Cutis laxa arising from a frame shift mutation in the elastin gene (ELN). (Abstract)</strong>
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Am. J. Hum. Genet. 61 (suppl.): A353 only, 1997.
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Zhang, M.-C., He, L., Giro, M., Yong, S. L., Tiller, G. E., Davidson, J. M.
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<strong>Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN).</strong>
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J. Biol. Chem. 274: 981-986, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9873040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9873040</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9873040" 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/10.1074/jbc.274.2.981" target="_blank">Full Text</a>]
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Anne M. Stumpf - reorganized : 1/26/2012
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Kelly A. Przylepa - updated : 11/20/2008<br>Marla J. F. O'Neill - updated : 4/19/2006<br>Victor A. McKusick - updated : 4/10/2003<br>Victor A. McKusick - updated : 1/5/1999<br>Victor A. McKusick - updated : 6/15/1998
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Victor A. McKusick : 6/4/1986
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alopez : 09/22/2023
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carol : 11/21/2018<br>carol : 07/09/2016<br>carol : 10/16/2015<br>terry : 1/29/2013<br>alopez : 1/30/2012<br>alopez : 1/30/2012<br>alopez : 1/26/2012<br>alopez : 1/19/2012<br>carol : 10/4/2010<br>carol : 8/13/2010<br>carol : 11/26/2008<br>terry : 11/20/2008<br>carol : 4/19/2006<br>terry : 4/19/2006<br>tkritzer : 4/17/2003<br>tkritzer : 4/16/2003<br>terry : 4/10/2003<br>carol : 1/6/1999<br>terry : 1/6/1999<br>terry : 1/5/1999<br>terry : 1/5/1999<br>alopez : 6/18/1998<br>terry : 6/15/1998<br>carol : 9/20/1994<br>mimadm : 6/25/1994<br>warfield : 4/8/1994<br>supermim : 3/16/1992<br>carol : 9/6/1991<br>carol : 5/29/1991
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<strong>#</strong> 123700
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CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1
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<strong>ORPHA:</strong> 90348;
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<strong>DO:</strong> 0070130;
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7q11.23
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Cutis laxa, autosomal dominant
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123700
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Autosomal dominant
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3
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ELN
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130160
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<p>A number sign (#) is used with this entry because autosomal dominant cutis laxa-1 (ADCL1) is caused by heterozygous mutations in the elastin gene (ELN; 130160) on chromosome 7q11.</p>
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<p>Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see 130000). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).</p><p>Autosomal dominant congenital cutis laxa (ADCL) is genetically heterogeneous and shows clinical variability. The characteristic loose skin may be accompanied by gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema (summary by Graul-Neumann et al., 2008). </p><p>Loose, inelastic skin is a clinical feature of many disorders, e.g., geroderma osteodysplasticum (GO; 231070) and Costello syndrome (218040).</p><p>For a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).</p><p><strong><em>Genetic Heterogeneity of Autosomal Dominant Cutis Laxa</em></strong></p><p>
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Also see ADCL2 (614434), caused by mutation in the FBLN5 gene (604580) on chromosome 14q32, and ADCL3 (616603), caused by mutation in the ALDH18A1 (138250) gene on chromosome 10q24.</p>
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<p>Sestak (1962) reported a father and daughter with cutis laxa. Goltz (1966) studied a family with affected persons in successive generations. Balboni (1963) described a child with typical cutis laxa and multiple vascular anomalies including coarctation of the aorta. The father and a paternal uncle were thought to have the same condition. Beighton (1972) described 2 pedigrees with 2 or more generations affected. In each pedigree there was an instance of male-to-male transmission. In each case, however, the relevant males were not examined by the author. In the early report of Kopp (1888), the father had onset of cutis laxa at age 16, and in the son cutis laxa was present at birth. Other 'dominant' pedigrees were reported by Lewis (1948) (mother and daughter), Reidy (1963) (father and daughter), and Schreiber and Tilley (1961) (4 generations). (Another of the families reported by Schreiber and Tilley (1961), viz., no. 1, had the acromegaloid syndrome (102100).) </p><p>Damkier et al. (1991) described cutis laxa in 6 members of 5 generations. All were female except for the proband, a 17-year-old man in the most recent generation. The onset of skin manifestations occurred between puberty and early adulthood. In the man's mother and maternal grandmother, numerous gastrointestinal diverticula were demonstrated, and both had been operated on for abdominal hernia and genital prolapse. There were no cardiopulmonary symptoms. Marchase et al. (1980) described a mother and son with cutis laxa and concluded that there were abnormalities in both elastic tissue and collagen. The son had Klippel-Trenaunay-Weber syndrome (149000). </p><p>An acquired form of cutis laxa, called generalized elastolysis, has been described in at least 17 cases (Harris et al., 1978). In this disorder elastic fibers rather abruptly become fragmented, disorganized and scarce with resultant emphysema, aortic aneurysm and bowel diverticula, in addition to cutis laxa. An erythematous rash suggesting penicillin reaction occurred at the onset of elastolysis in some patients. Hiatal and other hernias and rupture of patellar tendons were also noted. It is well to remember that cutis laxa can be acquired as an autoimmune process (Tsuji et al., 1987). Other phenocopies of genetic disorders on the basis of autoimmune mechanisms are represented by acquired von Willebrand disease (see 193400) and congenital heart block (234700) occurring in the offspring of mothers with systemic lupus erythematosus. </p><p>Corbett et al. (1994) described a 51-year-old mother and her 23-year-old daughter with congenital cutis laxa and early-onset emphysema. Both mother and daughter had been smokers and were heterozygous (MZ) for alpha-1-antitrypsin deficiency (613490). Urban et al. (2005) provided follow-up on the family described by Corbett et al. (1994): the mother's pulmonary disease progressed to end-stage respiratory failure requiring double lung transplant, and she died at age 61 of renal failure secondary to immunosuppressant treatment. The maternal grandmother, originally reported by Beighton (1972), had congenital cutis laxa and later developed an inguinal hernia, uterine prolapse, dyspnea, and bronchiectasis. The maternal great-grandmother, an uncle, and a cousin were also reportedly affected by cutis laxa, but were unavailable for examination. </p><p>Tassabehji et al. (1998) reported a 37-year-old Caucasian woman with cutis laxa who underwent her first facial cosmetic surgery at 4 years of age, with 6 subsequent operations. Bilateral herniorraphies were performed at 7 years of age. A cardiac murmur was noted at 4 years of age, and when she presented with reduced exercise tolerance at 19 years, right ventricular hypertrophy was noted. Right ventricular angiography showed hypertrophy of the infundibulum with angiographic narrowing. There were multiple peripheral pulmonary stenoses, including stenoses in very small vessels. The father, described by Reidy (1963), had loose skin on his chest, forearms, and abdomen in addition to facial drooping, and had 2 cosmetic operations in his teenage years. He had required an inguinal herniorraphy, but apart from venous thrombosis at the age of 50 years, had remained in good health. The proband had suffered from Raynaud phenomenon since late adolescence. </p><p>Zhang et al. (1999) provided clinical information on a patient with cutis laxa in whom Zhang et al. (1997) had identified heterozygosity for a 2012G deletion in the ELN gene (130160.0008). Loose skin, stridor, and feeding difficulties were apparent from birth. Additional clinical findings ascertained during infancy included moderate subglottic stenosis with floppy airway structures, redundant mitral and tricuspid valves, mild dilatation of the proximal aorta and great vessels, and umbilical and inguinal hernias. He underwent inguinal herniorrhaphies at ages 7 months, 3 years, and 14 years. At age 17 years, his height and weight were at the 75th percentile. Physical examination showed an aged appearance, with smooth, loose skin lacking elastic recoil; tortuous, pulsatile external carotid arteries; and a hoarse voice. He complained of fatigue, dyspnea on exertion, and shortness of breath. Aortic root dilatation was described as minimal. Pulmonary function testing showed reduced expiratory flow, suggestive of fixed or collapsible upper airway obstruction. Histologically, dermal collagen fibers appeared normal, but elastic fibers appeared fragmented with a paucity of amorphous elastin in the matrix. Tropoelastin production in cultured fibroblasts from this patient was the lowest of 6 cutis laxa patients studied (Sephel et al., 1989), and an apparent nonspecific increase in type VI collagen (120220) production was noted. </p><p>Szabo et al. (2006) reported a 3-generation family of Japanese and German ancestry and an unrelated Singaporean girl of Chinese descent with cutis laxa and aortic aneurysmal disease. The proband in the Japanese-German family was an 11-year-old girl who, along with her paternal grandmother, had a mildly dilated aortic root, mild aortic insufficiency, and obvious cutis laxa. Her 38-year-old father had a large aneurysm of the sinuses of Valsalva and ascending aorta, requiring grafting and valve replacement; he had barely noticeable skin laxity. His brother, the proband's uncle, died at age 26 of aortic dissection with no other apparent systemic involvement or skin laxity. Histologic examination of aneurysmal tissue from this patient revealed medial degeneration characterized by a dramatic loss of the elastic lamellae and smooth muscle cells and a lack of atherosclerotic and inflammatory lesions. The daughter of the deceased brother, the proband's cousin, had cutis laxa and mild aortic dilation. The proband and her father and grandmother all had inguinal hernias repaired surgically. The unrelated Singaporean girl, who had no family history of cutis laxa, was noted at birth to have marked laxity of the skin. An echocardiogram at age 5 showed significant dilation of the aortic root at the level of the sinuses of Valsalva. Szabo et al. (2006) concluded that severe aortic disease may be present in patients with cutis laxa and that regular cardiac monitoring is necessary to avert fatal aortic rupture. </p><p>Graul-Neumann et al. (2008) described a boy with autosomal dominant severe cutis laxa, severe congenital pulmonary disease, which had not previously been reported in ADCL, and supravalvular pulmonary artery stenosis. He was the first child born to unrelated parents. Physical examination at birth revealed generalized loose skin, inguinal and umbilical hernias, and hypotonia. Immediately after birth, he developed respiratory distress syndrome characterized by repeated pneumothoraces and emphysema. At 7 months of age, he developed infantile spasms (308350). At 15 months, he was able to vocalize but could only sit with support. His father had a grade 1 aortic valvular insufficiency but did not show any signs of cutis laxa with normal elasticity and recoil of the skin. Electron microscopy of the proband's skin demonstrated only mild rarefication of elastic fibers (in contrast to most recessive cutis laxa types). No mutations were found in the FBLN4 (604633) or FBLN5 genes. A novel heterozygous splice site mutation in the ELN gene (130160.0019) was detected in the proband and his clinically healthy father. Graul-Neumann et al. (2008) concluded that the variable processing of an identically mutated gene (dominant-negative in the child and haploinsufficiency in the father) caused the highly variable clinical appearance of ADCL in this family. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>The transmission pattern of ADCL1 in the families reported by Urban et al. (2005) and Szabo et al. (2006) was consistent with autosomal dominant inheritance. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<span class="mim-text-font">
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<p>Zhang et al. (1997, 1999) and Tassabehji et al. (1998) independently described patients with autosomal dominant cutis laxa and mutations in the elastin gene (see 130160.0008-130160.0010). </p><p>In the mother and daughter with cutis laxa and severe pulmonary disease described by Beighton (1972) and Corbett et al. (1994), Urban et al. (2005) identified no mutations in the elastin gene by direct sequencing, but detected an abnormal protein in cultured dermal fibroblasts using metabolic labeling and immunoprecipitation. Mutation and gene expression analyses established the presence of a complex tandem duplication in the elastin gene (130160.0016). Immunoprecipitation showed that the mutant tropoelastin was partially secreted and partially retained intracellularly; a polyclonal antibody raised against a unique peptide in the mutant molecule showed both intracellular and matrix staining. Urban et al. (2005) concluded that mutations in the elastin gene can cause cutis laxa associated with a severe pulmonary phenotype. </p><p>In affected members of a 3-generation family of Japanese and German ancestry and an unrelated Singaporean girl of Chinese descent with cutis laxa and aortic aneurysmal disease, Szabo et al. (2006) identified heterozygosity for a 25-bp deletion (130160.0017) and a 1-bp deletion (130160.0018) in the ELN gene, respectively. </p>
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<h4>
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<span class="mim-font">
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<strong>History</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>Wiener (1925) reported dominant inheritance of cutis laxa, but Beighton (1972) concluded that the family reported by Wiener (1925) had the Ehlers-Danlos syndrome. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Balboni, F. A.
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<strong>Cutis laxa and multiple vascular anomalies including multiple coarctation of the aorta: a case report.</strong>
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St. Francis Hosp. Bull. 19: 26-35, 1963.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Beighton, P. H.
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<strong>The dominant and recessive forms of cutis laxa.</strong>
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J. Med. Genet. 9: 216-221, 1972.
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[PubMed: 5046633]
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[Full Text: https://doi.org/10.1136/jmg.9.2.216]
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</p>
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</li>
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|
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<li>
|
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<p class="mim-text-font">
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Corbett, E., Glaisyer, H., Chan, C., Madden, B., Khaghani, A., Yacoub, M.
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<strong>Congenital cutis laxa with a dominant inheritance and early onset emphysema.</strong>
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Thorax 49: 836-837, 1994.
|
|
|
|
|
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[PubMed: 8091333]
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|
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[Full Text: https://doi.org/10.1136/thx.49.8.836]
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</p>
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</li>
|
|
|
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<li>
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<p class="mim-text-font">
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Damkier, A., Brandrup, F., Starklint, H.
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<strong>Cutis laxa: autosomal dominant inheritance in five generations.</strong>
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Clin. Genet. 39: 321-329, 1991.
|
|
|
|
|
|
[PubMed: 1907230]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1991.tb03038.x]
|
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</p>
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</li>
|
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|
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<li>
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<p class="mim-text-font">
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Davidson, J. M., Giro, M.
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<strong>Cutis laxa and premature aging syndromes.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. 525-560.
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</p>
|
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</li>
|
|
|
|
<li>
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<p class="mim-text-font">
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Goltz, R. W.
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<strong>Personal Communication.</strong>
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Denver, Colo. 1966.
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</p>
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</li>
|
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|
<li>
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<p class="mim-text-font">
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Graul-Neumann, L. M., Hausser, I., Essayie, M., Rauch, A., Kraus, C.
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<strong>Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.</strong>
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Am. J. Med. Genet. 146A: 977-983, 2008.
|
|
|
|
|
|
[PubMed: 18348261]
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|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.32242]
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</p>
|
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</li>
|
|
|
|
<li>
|
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<p class="mim-text-font">
|
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Harris, R. B., Heaphy, M. R., Perry, H. O.
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<strong>Generalized elastolysis (cutis laxa).</strong>
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Am. J. Med. 65: 815-822, 1978.
|
|
|
|
|
|
[PubMed: 707540]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9343(78)90801-x]
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</p>
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</li>
|
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<li>
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<p class="mim-text-font">
|
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Kopp, W.
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<strong>Demonstration zweier Faelle von 'cutis laxa'.</strong>
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Muench. Med. Wschr. 35: 259 only, 1888.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lewis, E.
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<strong>Cutis laxa.</strong>
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Proc. Roy. Soc. Med. 41: 864 only, 1948.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Marchase, P., Holbrook, K., Pinnell, S. R.
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<strong>A familial cutis laxa syndrome with ultrastructural abnormalities of collagen and elastin.</strong>
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J. Invest. Derm. 75: 399-403, 1980.
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[PubMed: 7430706]
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[Full Text: https://doi.org/10.1111/1523-1747.ep12523655]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Reidy, J. P.
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<strong>Cutis hyperelastica (Ehlers-Danlos) and cutis laxa.</strong>
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Brit. J. Plast. Surg. 16: 84-94, 1963.
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[PubMed: 13973774]
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[Full Text: https://doi.org/10.1016/s0007-1226(63)80083-1]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Schreiber, M. M., Tilley, J. C.
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<strong>Cutis laxa.</strong>
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Arch. Derm. 84: 266-272, 1961.
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[PubMed: 13748595]
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[Full Text: https://doi.org/10.1001/archderm.1961.01580140092012]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Sephel, G. C., Byers, P. H., Holbrook, K. A., Davidson, J. M.
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<strong>Heterogeneity of elastin expression in cutis laxa fibroblast strains.</strong>
|
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J. Invest. Derm. 93: 147-153, 1989.
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[PubMed: 2745999]
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[Full Text: https://doi.org/10.1111/1523-1747.ep12277389]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Sestak, Z.
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<strong>Ehlers-Danlos syndrome and cutis laxa: an account of families in the Oxford area.</strong>
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Ann. Hum. Genet. 25: 313-321, 1962.
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[PubMed: 13910947]
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[Full Text: https://doi.org/10.1111/j.1469-1809.1962.tb01768.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Szabo, Z., Crepeau, M. W., Mitchell, A. L., Stephan, M. J., Puntel, R. A., Loke, K. Y., Kirk, R. C., Urban, Z.
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<strong>Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. (Letter)</strong>
|
|
J. Med. Genet. 43: 255-258, 2006.
|
|
|
|
|
|
[PubMed: 16085695]
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[Full Text: https://doi.org/10.1136/jmg.2005.034157]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Tassabehji, M., Metcalfe, K., Hurst, J., Ashcroft, G. S., Kielty, C., Wilmot, C., Donnai, D., Read, A. P., Jones, C. J. P.
|
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<strong>An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa.</strong>
|
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Hum. Molec. Genet. 7: 1021-1028, 1998.
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[PubMed: 9580666]
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[Full Text: https://doi.org/10.1093/hmg/7.6.1021]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Tsuji, T., Imajo, Y., Sawabe, M., Kuniyuki, S., Ishii, M., Hamada, T., Ishimura, E., Hamada, N., Nishisawa, Y., Morii, H.
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<strong>Acquired cutis laxa concomitant with nephrotic syndrome.</strong>
|
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Arch. Derm. 123: 1211-1216, 1987.
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[PubMed: 3307640]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Urban, Z., Gao, J., Pope, F. M., Davis, E. C.
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<strong>Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.</strong>
|
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J. Invest. Derm. 124: 1193-1199, 2005.
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[PubMed: 15955094]
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[Full Text: https://doi.org/10.1111/j.0022-202X.2005.23758.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Wiener, K.
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<strong>Gummihaut (cutis laxa) mit dominanter Vererbung.</strong>
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Arch. Derm. Syph. 148: 599-601, 1925.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Zhang, M. C., He, L., Yong, S. L., Tiller, G. E., Davidson, J. M.
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<strong>Cutis laxa arising from a frame shift mutation in the elastin gene (ELN). (Abstract)</strong>
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Am. J. Hum. Genet. 61 (suppl.): A353 only, 1997.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Zhang, M.-C., He, L., Giro, M., Yong, S. L., Tiller, G. E., Davidson, J. M.
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<strong>Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN).</strong>
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J. Biol. Chem. 274: 981-986, 1999.
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[PubMed: 9873040]
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[Full Text: https://doi.org/10.1074/jbc.274.2.981]
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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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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Anne M. Stumpf - reorganized : 1/26/2012<br>Kelly A. Przylepa - updated : 11/20/2008<br>Marla J. F. O'Neill - updated : 4/19/2006<br>Victor A. McKusick - updated : 4/10/2003<br>Victor A. McKusick - updated : 1/5/1999<br>Victor A. McKusick - updated : 6/15/1998
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<span class="text-nowrap mim-text-font">
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Creation Date:
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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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Edit History:
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alopez : 09/22/2023<br>carol : 11/21/2018<br>carol : 07/09/2016<br>carol : 10/16/2015<br>terry : 1/29/2013<br>alopez : 1/30/2012<br>alopez : 1/30/2012<br>alopez : 1/26/2012<br>alopez : 1/19/2012<br>carol : 10/4/2010<br>carol : 8/13/2010<br>carol : 11/26/2008<br>terry : 11/20/2008<br>carol : 4/19/2006<br>terry : 4/19/2006<br>tkritzer : 4/17/2003<br>tkritzer : 4/16/2003<br>terry : 4/10/2003<br>carol : 1/6/1999<br>terry : 1/6/1999<br>terry : 1/5/1999<br>terry : 1/5/1999<br>alopez : 6/18/1998<br>terry : 6/15/1998<br>carol : 9/20/1994<br>mimadm : 6/25/1994<br>warfield : 4/8/1994<br>supermim : 3/16/1992<br>carol : 9/6/1991<br>carol : 5/29/1991
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