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Entry
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- #130000 - EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1
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- OMIM
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<p>
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<span class="h4">#130000</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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 role="presentation">
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<a href="/clinicalSynopsis/130000"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS130000"> <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="#otherFeatures">Other Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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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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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</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="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=EHLERS-DANLOS SYNDROME, CLASSIC TYPE" 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=612&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/NBK1244/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/2484" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=130000[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=287" 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/64b7c141-6831-4bd2-a2d4-4496dec5b631/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>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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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:14720" 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/130000" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=000327,002165" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:130000" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</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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<div>
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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> 287<br />
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<strong>DO:</strong> 14720<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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130000
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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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EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1
|
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
EHLERS-DANLOS SYNDROME, TYPE I, FORMERLY; EDS1, FORMERLY<br />
|
|
EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE, FORMERLY<br />
|
|
EDS I, FORMERLY<br />
|
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EHLERS-DANLOS SYNDROME, GRAVIS TYPE, FORMERLY
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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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>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/9/629?start=-3&limit=10&highlight=629">
|
|
9q34.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Ehlers-Danlos syndrome, classic type, 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/130000"> 130000 </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">
|
|
COL5A1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120215"> 120215 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/130000" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS130000" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/130000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/130000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Narrow maxilla <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851835&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851835</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002010</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002010</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypermobile <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263778007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263778007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263777002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263777002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0549185&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0549185</a>]</span><br /> -
|
|
Lop ears <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266614&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266614</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000394</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2e822d8f95a1c544ba935529106e431d" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Lop_Ear-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2e822d8f95a1c544ba935529106e431d" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Myopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57190000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57190000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027092&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027092</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span><br /> -
|
|
Blue sclerae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204164000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0542514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0542514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000592" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000592</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000592" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000592</a>]</span><br /> -
|
|
Ectopia lentis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74969002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74969002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q12.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q12.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.37" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.37</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013581</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001083</a>]</span><br /> -
|
|
Epicanthal folds <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74824007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74824007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0678230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0678230</a>, <a href="https://bioportal.bioontology.org/search?q=C0229249&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0229249</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Small, irregularly placed teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851836&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851836</a>]</span><br />
|
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</span>
|
|
</div>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mitral valve prolapse <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409712001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409712001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8074002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8074002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026267&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026267</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001634</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001634</a>]</span><br /> -
|
|
Aortic root dilatation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/251036003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">251036003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238669&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238669</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002616" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002616</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002616" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002616</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
</div>
|
|
|
|
</div>
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </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 /> -
|
|
Umbilical hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396347007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396347007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/553.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">553.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019322</a>, <a href="https://bioportal.bioontology.org/search?q=C0041636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Spontaneous bowel rupture <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851834&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851834</a>]</span><br /> -
|
|
Bowel diverticula <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1394691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1394691</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005222" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005222</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005222" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005222</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Osteoarthritis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/225655006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">225655006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396275006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396275006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M15-M19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M15-M19</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M19.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M19.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M19.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M19.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/715.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">715.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029408&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029408</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002758" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002758</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002758" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002758</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Joint hypermobility <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/788453008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">788453008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span><br /> -
|
|
Joint dislocation (hip, shoulder, elbow, knee, or clavicle) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851837</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87642003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87642003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/108367008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">108367008</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/830-839.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">830-839.99</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001373" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001373</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pes planus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23407003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23407003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203534009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203534009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53226007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53226007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">734</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016202</a>, <a href="https://bioportal.bioontology.org/search?q=C0392477&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392477</a>, <a href="https://bioportal.bioontology.org/search?q=C0264133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264133</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1f893093d35c2d1df583eed57a47b6cb" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Planus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1f893093d35c2d1df583eed57a47b6cb" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<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">
|
|
|
|
- Fragile skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247427007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247427007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241181&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241181</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001030</a>]</span><br /> -
|
|
Easy bruisability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/425075004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">425075004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/424131007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">424131007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423798</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000978" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000978</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000978" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000978</a>]</span><br /> -
|
|
Cigarette-paper scars <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851828&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851828</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001073" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001073</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001073" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001073</a>]</span><br /> -
|
|
Dystrophic scarring <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231564&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231564</a>]</span><br /> -
|
|
Wide, thin scars <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805540&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805540</a>]</span><br /> -
|
|
Velvety skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241178&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241178</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000977" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000977</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000977" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000977</a>]</span><br /> -
|
|
Poor wound healing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851789&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851789</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001058" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001058</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001058" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001058</a>]</span><br /> -
|
|
Molluscoid pseudotumors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844597&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844597</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000993" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000993</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000993" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000993</a>]</span><br /> -
|
|
Spheroids <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844596&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844596</a>]</span><br /> -
|
|
Skin hyperextensibility <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241074&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241074</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000974" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000974</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000974" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000974</a>]</span><br />
|
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|
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</span>
|
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</div>
|
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</div>
|
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypotonia in infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860834&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860834</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008947" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008947</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008947" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008947</a>]</span><br />
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</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> PRENATAL MANIFESTATIONS </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Delivery </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Premature birth following premature rupture of fetal membranes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851833&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851833</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005100</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005100</a>]</span><br />
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</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Two unrelated patients with classic EDS and a mutation in COL1A1 (<a href="/entry/120150#0059">120150.0059</a>) has been reported<br />
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|
|
|
</span>
|
|
</div>
|
|
|
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</div>
|
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|
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</div>
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the collagen V, alpha-1 polypeptide gene (COL5A1, <a href="/entry/120215#0002">120215.0002</a>)<br /> -
|
|
Caused by mutation in the collagen V, alpha-2 polypeptide gene (COL5A2, <a href="/entry/120190#0001">120190.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
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</div>
|
|
|
|
</div>
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|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
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|
|
|
|
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|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Ehlers-Danlos syndrome
|
|
- <a href="/phenotypicSeries/PS130000">PS130000</a>
|
|
- 23 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/33?start=-3&limit=10&highlight=33"> 1p36.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615349"> Ehlers-Danlos syndrome, spondylodysplastic type, 2 </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/615349"> 615349 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615291"> B3GALT6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615291"> 615291 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/162?start=-3&limit=10&highlight=162"> 1p36.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/225400"> Ehlers-Danlos syndrome, kyphoscoliotic type, 1 </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/225400"> 225400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/153454"> PLOD1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/153454"> 153454 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/854?start=-3&limit=10&highlight=854"> 2q32.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/130050"> Ehlers-Danlos syndrome, vascular type </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/130050"> 130050 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120180"> COL3A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120180"> 120180 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/855?start=-3&limit=10&highlight=855"> 2q32.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/130010"> Ehlers-Danlos syndrome, classic type, 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/130010"> 130010 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120190"> COL5A2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120190"> 120190 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/523?start=-3&limit=10&highlight=523"> 4q27 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614170"> Brittle cornea syndrome 2 </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/614170"> 614170 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614161"> PRDM5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614161"> 614161 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/817?start=-3&limit=10&highlight=817"> 5q35.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/130070"> Ehlers-Danlos syndrome, spondylodysplastic type, 1 </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/130070"> 130070 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604327"> B4GALT7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604327"> 604327 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/829?start=-3&limit=10&highlight=829"> 5q35.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/225410"> Ehlers-Danlos syndrome, dermatosparaxis type </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/225410"> 225410 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604539"> ADAMTS2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604539"> 604539 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/351?start=-3&limit=10&highlight=351"> 6p21.33-p21.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606408"> Ehlers-Danlos syndrome, classic-like, 1 </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/606408"> 606408 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600985"> TNXB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600985"> 600985 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/650?start=-3&limit=10&highlight=650"> 6q13-q14.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616471"> Bethlem myopathy 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/616471"> 616471 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120320"> COL12A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120320"> 120320 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/798?start=-3&limit=10&highlight=798"> 6q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615539"> Ehlers-Danlos syndrome, musculocontractural type 2 </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/615539"> 615539 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605942"> DSE </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605942"> 605942 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/1032?start=-3&limit=10&highlight=1032"> 6q27 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620865"> ?Ehlers-Danlos syndrome, classic-like, 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/620865"> 620865 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188061"> THBS2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188061"> 188061 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/159?start=-3&limit=10&highlight=159"> 7p14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614557"> Ehlers-Danlos syndrome, kyphoscoliotic type, 2 </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/614557"> 614557 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614505"> FKBP14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614505"> 614505 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/227?start=-3&limit=10&highlight=227"> 7p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618000"> Ehlers-Danlos syndrome, classic-like, 2 </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/618000"> 618000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602981"> AEBP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602981"> 602981 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/423?start=-3&limit=10&highlight=423"> 7q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/225320"> Ehlers-Danlos syndrome, cardiac valvular type </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/225320"> 225320 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120160"> COL1A2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120160"> 120160 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/423?start=-3&limit=10&highlight=423"> 7q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617821"> Ehlers-Danlos syndrome, arthrochalasia type, 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/617821"> 617821 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120160"> COL1A2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120160"> 120160 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/629?start=-3&limit=10&highlight=629"> 9q34.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/130000"> Ehlers-Danlos syndrome, classic type, 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/130000"> 130000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120215"> COL5A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120215"> 120215 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/363?start=-3&limit=10&highlight=363"> 11p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612350"> Ehlers-Danlos syndrome, spondylodysplastic type, 3 </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/612350"> 612350 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608735"> SLC39A13 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608735"> 608735 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/89?start=-3&limit=10&highlight=89"> 12p13.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617174"> Ehlers-Danlos syndrome, periodontal type, 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
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<a href="/entry/130020"> Ehlers-Danlos syndrome, hypermobility type </a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because Ehlers-Danlos syndrome classic type 1 (EDSCL1) is caused by heterozygous mutation in the collagen alpha-1(V) gene (COL5A1; <a href="/entry/120215">120215</a>) on chromosome 9q34.</p><p>Rarely, specific mutations in the COL1A1 gene (e.g., R134C, <a href="/entry/120150#0059">120150.0059</a>) cause classic EDS.</p>
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<p>The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (<a href="#7" class="mim-tip-reference" title="Beighton, P. <strong>The Ehlers-Danlos syndromes. In: Beighton, P. (ed.): McKusick's Heritable Disorders of Connective Tissue. 5th ed.</strong> St. Louis: Mosby 1993. Pp. 189-251."None>Beighton, 1993</a>).</p><p><strong><em>Genetic Heterogeneity of Classic Ehlers-Danlos Syndrome</em></strong></p><p>
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See EDSCL2 (<a href="/entry/130010">130010</a>), caused by mutation in the COL5A2 gene (<a href="/entry/120190">120190</a>) on chromosome 2q32.</p><p><strong><em>Classification of Ehlers-Danlos Syndrome</em></strong></p><p>
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The current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by <a href="#31" class="mim-tip-reference" title="Malfait, F., Francomano, C., Byers, P., Belmont,, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., Castori, M., Cohen, H., and 33 others. <strong>The 2017 international classification of the Ehlers-Danlos syndromes.</strong> Am. J. Med. Genet. 175C: 8-26, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28306229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28306229</a>] [<a href="https://doi.org/10.1002/ajmg.c.31552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28306229">Malfait et al. (2017)</a>, which recognized 13 EDS subtypes: classic, classic-like (<a href="/entry/606408">606408</a>, <a href="/entry/618000">618000</a>, <a href="/entry/620865">620865</a>), cardiac-valvular (<a href="/entry/225320">225320</a>), vascular (<a href="/entry/130050">130050</a>), hypermobile (<a href="/entry/130020">130020</a>), arthrochalasia (<a href="/entry/130060">130060</a>, <a href="/entry/617821">617821</a>), dermatosparaxis (<a href="/entry/225410">225410</a>), kyphoscoliotic (<a href="/entry/225400">225400</a>, <a href="/entry/614557">614557</a>), spondylodysplastic (<a href="/entry/130070">130070</a>, <a href="/entry/615349">615349</a>), musculocontractural (<a href="/entry/601776">601776</a>, <a href="/entry/615539">615539</a>), myopathic (<a href="/entry/616471">616471</a>), periodontal (<a href="/entry/130080">130080</a>, <a href="/entry/617174">617174</a>), and brittle cornea syndrome (<a href="/entry/229200">229200</a>, <a href="/entry/614170">614170</a>). This classification is a revision of the 'Villefranche classification' reported by <a href="#3" class="mim-tip-reference" title="Beighton, P., De Paepe, A., Steinmann, B., Tsipouras, P., Wenstrup, R. J. <strong>Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997.</strong> Am. J. Med. Genet. 77: 31-37, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9557891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9557891</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19980428)77:1<31::aid-ajmg8>3.0.co;2-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9557891">Beighton et al. (1998)</a>, which was widely used in the literature and in OMIM. For a description of the Villefranche classification, see HISTORY. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=28306229+9557891" 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 an early classification of EDS, the designations EDS I and EDS II were used for severe and mild forms of classic EDS, respectively. EDS I was characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurred in approximately 50% of cases. Internal complications such as aortic and bowel rupture were occasionally present. EDS II had all the stigmata of EDS I, but to a minor degree (summary by <a href="#44" class="mim-tip-reference" title="Steinmann, B., Royce, P. M., Superti-Furga, A. <strong>The Ehlers-Danlos syndrome. In: Royce, P. M.; Steinmann, B. (eds.): Connective Tissue and its Heritable Disorders: Molecular, Genetic, and Medical Aspects. (2nd ed.)</strong> New York: Wiley Liss (pub.) 2002. Pp. 431-524."None>Steinmann et al., 2002</a>).</p>
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<p><a href="#21" class="mim-tip-reference" title="Graf, C. J. <strong>Spontaneous carotid-cavernous fistula: Ehlers-Danlos syndrome and related conditions.</strong> Arch. Neurol. 13: 662-672, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5850674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5850674</a>] [<a href="https://doi.org/10.1001/archneur.1965.00470060098011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5850674">Graf (1965)</a> reported a brother and sister with Ehlers-Danlos syndrome who developed 'spontaneous' carotid-cavernous fistula. Internal complications included rupture of large vessels, hiatus hernia, spontaneous rupture of the bowel, and diverticula of the bowel. Retinal detachment has been observed (<a href="#37" class="mim-tip-reference" title="Pemberton, J. W., Freeman, H. M., Schepens, C. L. <strong>Familial retinal detachment and the Ehlers-Danlos syndrome.</strong> Arch. Ophthal. 76: 817-824, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5924938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5924938</a>] [<a href="https://doi.org/10.1001/archopht.1966.03850010819007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5924938">Pemberton et al., 1966</a>). <a href="#41" class="mim-tip-reference" title="Schofield, P. F., MacDonald, N., Clegg, J. F. <strong>Familial spontaneous rupture of the colon: report of two cases.</strong> Dis. Colon Rectum 13: 394-396, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5472857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5472857</a>] [<a href="https://doi.org/10.1007/BF02616763" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5472857">Schofield et al. (1970)</a> reported brother and sister in their 60s who suffered spontaneous rupture of the colon. They had joint laxity, and both bruised easily and sustained many lacerations from minor trauma. The father of the 2 sibs and the son of the brother may have been affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5472857+5924938+5850674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Barabas, A. P. <strong>Ehlers-Danlos syndrome associated with prematurity and premature rupture of foetal membranes.</strong> Brit. Med. J. 2: 682-684, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5912902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5912902</a>] [<a href="https://doi.org/10.1136/bmj.2.5515.682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5912902">Barabas (1966)</a> concluded that most persons with EDS are born prematurely due to premature rupture of fetal membranes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5912902" 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>Patients with urinary tract infection and other problems related to bladder diverticulum were reported by <a href="#18" class="mim-tip-reference" title="Eadie, D. G. A., Wilkins, J. L. <strong>Bladder-neck obstruction and the Ehlers-Danlos syndrome.</strong> Brit. J. Urol. 39: 353-358, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4961391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4961391</a>] [<a href="https://doi.org/10.1111/j.1464-410x.1967.tb09815.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4961391">Eadie and Wilkins (1967)</a> and by <a href="#52" class="mim-tip-reference" title="Zalis, E. G., Roberts, D. C. <strong>Ehlers-Danlos syndrome with a hypoplastic kidney, bladder diverticulum, and diaphragmatic hernia.</strong> Arch. Derm. 96: 540-544, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4964142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4964142</a>] [<a href="https://doi.org/10.1001/archderm.96.5.540" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4964142">Zalis and Roberts (1967)</a>. <a href="#13" class="mim-tip-reference" title="Cuckow, P. M., Blackhall, R. J. S., Mouriquand, P. D. E. <strong>Huge bladder diverticula associated with Ehlers-Danlos syndrome.</strong> J. Roy. Soc. Med. 87: 290-291, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8207727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8207727</a>] [<a href="https://doi.org/10.1177/014107689408700517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8207727">Cuckow et al. (1994)</a> described a 4-year-old boy with huge bladder diverticula complicating type I EDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8207727+4961391+4964142" 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="#19" class="mim-tip-reference" title="Friedman, J. M., Harrod, M. J. E. <strong>An unusual connective tissue disease in mother and son: a 'new' type of Ehlers-Danlos syndrome?</strong> Clin. Genet. 21: 168-173, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7094393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7094393</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1982.tb00958.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7094393">Friedman and Harrod (1982)</a> described a severe form of EDS. The mother died of dissecting aneurysm of the aorta. Autopsy also showed myxomatous changes in the mitral and tricuspid valves with redundancy of cusps and chordae. Both mother and son had large hernias, positional foot deformities, abnormal thoracic shape, asthma, and severe eczematoid dermatitis. In an 18-year-old girl with EDS, <a href="#33" class="mim-tip-reference" title="Mishra, M., Chambers, J. B., Grahame, R. <strong>Ventricular septal aneurysm in a case of Ehlers-Danlos syndrome.</strong> Int. J. Cardiol. 36: 369-370, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1428274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1428274</a>] [<a href="https://doi.org/10.1016/0167-5273(92)90311-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1428274">Mishra et al. (1992)</a> demonstrated aneurysm of the membranous ventricular septum as well as mitral valve prolapse. The patient had had lumbosacral fusion for recurrent spondylolisthesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7094393+1428274" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a large Azerbaijanian village (population about 6,000), <a href="#27" class="mim-tip-reference" title="Kozlova, S. I., Prytkov, A. N., Blinnikova, O. E., Sultanova, F. A., Bochkova, D. N. <strong>Presumed homozygous Ehlers-Danlos syndrome type I in a highly inbred kindred.</strong> Am. J. Med. Genet. 18: 763-767, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6237581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6237581</a>] [<a href="https://doi.org/10.1002/ajmg.1320180423" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6237581">Kozlova et al. (1984)</a> observed a kindred with 92 persons affected with EDS I. One patient, whose affected parents were cousins, was judged to be homozygous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6237581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The minimal diagnostic features for EDS I used in the study of <a href="#50" class="mim-tip-reference" title="Wenstrup, R. J., Langland, G. T., Willing, M. C., D'Souza, V. N., Cole, W. G. <strong>A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro-alpha-1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).</strong> Hum. Molec. Genet. 5: 1733-1736, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8923000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8923000</a>] [<a href="https://doi.org/10.1093/hmg/5.11.1733" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8923000">Wenstrup et al. (1996)</a> were autosomal dominant inheritance, generalized joint laxity, hyperextensible skin with doughy and velvety texture, and the presence of widened atrophic scars. The criterion used to distinguish EDS II from EDS I was the absence of widened atrophic scars in EDS II. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8923000" 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="#15" class="mim-tip-reference" title="De Felice, C., Toti, P., Di Maggio, G., Parrini, S., Bagnoli, F. <strong>Absence of the inferior labial and lingual frenula in Ehlers-Danlos syndrome.</strong> Lancet 357: 1500-1502, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11377605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11377605</a>] [<a href="https://doi.org/10.1016/S0140-6736(00)04661-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11377605">De Felice et al. (2001)</a> studied 4 patients with EDS II and 8 patients with EDS III (<a href="/entry/130020">130020</a>), the hypermobile type. They concluded that absence of the inferior labial frenulum and the lingual frenulum are characteristics of EDS. Absence of the inferior labial frenulum showed 100% sensitivity and 99.4% specificity; absence of the lingual frenulum showed 71.4% sensitivity and 100% specificity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11377605" 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="#51" class="mim-tip-reference" title="Wenstrup, R. J., Meyer, R. A., Lyle, J. S., Hoechstetter, L., Rose, P. S., Levy, H. P., Francomano, C. A. <strong>Prevalence of aortic root dilation in the Ehlers-Danlos syndrome.</strong> Genet. Med. 4: 112-117, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12180144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12180144</a>] [<a href="https://doi.org/10.1097/00125817-200205000-00003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12180144">Wenstrup et al. (2002)</a> performed a prospective cohort study on 71 consecutive EDS patients. Twenty of 71, or 28%, had aortic root dilatation defined as greater than 2 standard deviations above population-based norms. Fourteen of 42 individuals with the classic form of EDS (types I and II) and 6 of 29 individuals with the hypermobility form (EDS III) had aortic root dilatation, with no gender differences. <a href="#51" class="mim-tip-reference" title="Wenstrup, R. J., Meyer, R. A., Lyle, J. S., Hoechstetter, L., Rose, P. S., Levy, H. P., Francomano, C. A. <strong>Prevalence of aortic root dilation in the Ehlers-Danlos syndrome.</strong> Genet. Med. 4: 112-117, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12180144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12180144</a>] [<a href="https://doi.org/10.1097/00125817-200205000-00003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12180144">Wenstrup et al. (2002)</a> concluded that aortic root dilatation is a common finding in EDS. However, rates of progression and complication were unknown. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12180144" 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="#34" class="mim-tip-reference" title="Nordschow, C. D., Marsolais, E. B. <strong>Ehlers-Danlos syndrome: some recent biophysical observations.</strong> Arch. Path. 88: 65-68, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5793693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5793693</a>]" pmid="5793693">Nordschow and Marsolais (1969)</a> could demonstrate no abnormality of shrinkage temperature thermograms of tendon collagen from a hypermobile joint of an EDS patient. They supported the suggestion of <a href="#49" class="mim-tip-reference" title="Wechsler, H. L., Fisher, E. R. <strong>Ehlers-Danlos syndrome: pathologic, histochemical and electron microscopic observations.</strong> Arch. Path. 77: 613-619, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14130047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14130047</a>]" pmid="14130047">Wechsler and Fisher (1964)</a> that the defect concerns the amount of collagen produced. <a href="#46" class="mim-tip-reference" title="Varadi, D. P., Hall, D. A. <strong>Cutaneous elastin in Ehlers-Danlos syndrome.</strong> Nature 208: 1224-1225, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5870329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5870329</a>] [<a href="https://doi.org/10.1038/2081224b0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5870329">Varadi and Hall (1965)</a> concluded that elastin is normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5793693+5870329+14130047" 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="#8" class="mim-tip-reference" title="Borck, G., Beighton, P., Wilhelm, C., Kohlhase, J., Kubisch, C. <strong>Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.</strong> Am. J. Med. Genet. 152A: 2090-2093, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20635400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20635400</a>] [<a href="https://doi.org/10.1002/ajmg.a.33541" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20635400">Borck et al. (2010)</a> reported a 42-year-old German man with EDS and spontaneous rupture of his left common iliac artery, who was negative for mutation in COL3A1 but was found instead to carry a de novo heterozygous nonsense mutation (<a href="/entry/120215#0012">120215.0012</a>) in the COL5A1 gene. The patient had a history of recurrent inguinal hernias and easy bruising since childhood; hypertension had been diagnosed 2 years earlier. Physical examination revealed pigmented scars over bony prominences, molluscoid pseudotumors at elbows and knees, skin hyperextensibility, as well as varicose veins, all consistent with EDS. He had no articular hypermobility or history of joint dislocation, no ophthalmologic involvement, and no kyphoscoliosis or periodontitis. His parents were unaffected and did not carry the mutation; however, his daughter and son, who had smooth skin with a history of easy bruising, which had raised the suspicion of child abuse by schools and social authorities, were also heterozygous for the mutation. <a href="#8" class="mim-tip-reference" title="Borck, G., Beighton, P., Wilhelm, C., Kohlhase, J., Kubisch, C. <strong>Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.</strong> Am. J. Med. Genet. 152A: 2090-2093, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20635400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20635400</a>] [<a href="https://doi.org/10.1002/ajmg.a.33541" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20635400">Borck et al. (2010)</a> stated that this was the first report of a patient with COL5A1 mutation-positive EDS and rupture of a large artery, suggesting that arterial rupture might be a rare complication of classic EDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20635400" 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>Skin like that in EDS has been observed with a fibrinolytic defect (<a href="/entry/134900">134900</a>).</p>
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<p><a href="#17" class="mim-tip-reference" title="Deodhar, A. A., Woolf, A. D. <strong>Ehlers Danlos syndrome and osteoporosis. (Letter)</strong> Ann. Rheum. Dis. 53: 841-842, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7864698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7864698</a>] [<a href="https://doi.org/10.1136/ard.53.12.841-c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7864698">Deodhar and Woolf (1994)</a> suggested that patients with Ehlers-Danlos syndrome are at unusual risk for postmenopausal osteoporosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7864698" 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="#47" class="mim-tip-reference" title="Voermans, N. C., van Alfen, N., Pillen, S., Lammens, M., Schalkwijk, J., Zwarts, M. J., van Rooij, I. A., Hamel, B. C. J., van Engelen, B. G. <strong>Neuromuscular involvement in various types of Ehlers-Danlos syndrome.</strong> Ann. Neurol. 65: 687-697, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19557868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19557868</a>] [<a href="https://doi.org/10.1002/ana.21643" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19557868">Voermans et al. (2009)</a> performed a cross-sectional study on the presence of neuromuscular symptoms in 40 patients with various forms of EDS. Ten patients each were analyzed with classic EDS, vascular EDS (<a href="/entry/130050">130050</a>), hypermobility EDS (<a href="/entry/130020">130020</a>), and TNX-deficient EDS (<a href="/entry/606408">606408</a>). Overall, those with classic EDS and TNX-deficient EDS reported the most neuromuscular involvement, with muscle weakness, hypotonia, myalgia, easy fatigability, and intermittent paresthesias, although patients in all groups reported these features. Physical examination showed mild to moderate muscle weakness (85%) and reduction of vibration sense (60%) across all groups. Nerve conduction studies demonstrated axonal polyneuropathy in 5 (13%) of 39 patients. Needle electromyography showed myopathic EMG features in 9 (26%) and a mixed neurogenic-myopathic pattern in 21 (60%) of 35 patients. Muscle ultrasound showed increased echo intensity in 19 (48%) and atrophy in 20 (50%) of 40 patients. Mild myopathic features were seen on muscle biopsy of 5 (28%) of 18 patients. Patients with the hypermobility type EDS caused by TNXB haploinsufficiency were least affected. <a href="#47" class="mim-tip-reference" title="Voermans, N. C., van Alfen, N., Pillen, S., Lammens, M., Schalkwijk, J., Zwarts, M. J., van Rooij, I. A., Hamel, B. C. J., van Engelen, B. G. <strong>Neuromuscular involvement in various types of Ehlers-Danlos syndrome.</strong> Ann. Neurol. 65: 687-697, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19557868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19557868</a>] [<a href="https://doi.org/10.1002/ana.21643" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19557868">Voermans et al. (2009)</a> postulated that abnormalities in muscle or nerve extracellular matrix may underlie these findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19557868" 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="#11" class="mim-tip-reference" title="Castori, M., Camerota, F., Celletti, C., Grammatico, P., Padua, L. <strong>Quality of life in the classic and hypermobility types of Ehlers-Danlos syndrome.</strong> Neurology 67: 145-146, 2010. Note: Erratum: Neurology 67: 417 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20186845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20186845</a>] [<a href="https://doi.org/10.1002/ana.21934" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20186845">Castori et al. (2010)</a> observed that patients with EDS reported high levels of chronic pain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20186845" 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>Classic EDS is an autosomal dominant disorder (<a href="#50" class="mim-tip-reference" title="Wenstrup, R. J., Langland, G. T., Willing, M. C., D'Souza, V. N., Cole, W. G. <strong>A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro-alpha-1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).</strong> Hum. Molec. Genet. 5: 1733-1736, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8923000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8923000</a>] [<a href="https://doi.org/10.1093/hmg/5.11.1733" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8923000">Wenstrup et al., 1996</a>; <a href="#16" class="mim-tip-reference" title="De Paepe, A., Nuytinck, L., Hausser, I., Anton-Lamprecht, I., Naeyaert, J.-M. <strong>Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.</strong> Am. J. Hum. Genet. 60: 547-554, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9042913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9042913</a>]" pmid="9042913">De Paepe et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9042913+8923000" 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="#39" class="mim-tip-reference" title="Scarbrough, P. R., Daw, J., Carroll, A. J., Finley, S. C. <strong>An unbalanced (6q;13q) translocation in a male with clinical features of Ehlers-Danlos type II syndrome.</strong> J. Med. Genet. 21: 226-228, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6748022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6748022</a>] [<a href="https://doi.org/10.1136/jmg.21.3.226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6748022">Scarbrough et al. (1984)</a> described what they considered to be EDS II in a 14-year-old male with an unbalanced t(6;13). The karyotype was designated as 45,XY,-6,-13,+der(6),t(6;13)(q27;q11). The patient was monosomic for 13pter-q11 and for a small part of 6q27 (the most distal segment of 6q). Joint hypermobility, velvety skin, several well-healed, parchment-like scars over both shins, and mild propensity for bruising were described. The patient had serious neuropsychiatric problems. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6748022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using an intragenic simple sequence repeat polymorphism of the COL5A1 gene (<a href="/entry/120215">120215</a>) as a linkage marker, <a href="#29" class="mim-tip-reference" title="Loughlin, J., Irven, C., Hardwick, L. J., Butcher, S., Walsh, S., Wordsworth, P., Sykes, B. <strong>Linkage of the gene that encodes the alpha-1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II).</strong> Hum. Molec. Genet. 4: 1649-1651, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541855</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1649" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541855">Loughlin et al. (1995)</a> showed linkage to EDS II; maximum lod = 8.3 at theta = 0.00 in a single large pedigree. The COL5A1 gene is located on 9q34.2-q34.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8541855" 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="#23" class="mim-tip-reference" title="Greenspan, D. S., Northrup, H., Au, K.-S., McAllister, K. A., Francomano, C. A., Wenstrup, R. J., Marchuk, D. A., Kwiatkowski, D. J. <strong>COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II.</strong> Genomics 25: 737-739, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7759113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7759113</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80021-d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7759113">Greenspan et al. (1995)</a> used 3-prime untranslated region RFLPs to exclude the COL5A1 gene as a candidate in families with Ehlers-Danlos syndrome type II. The reason for inconsistency with the findings of <a href="#29" class="mim-tip-reference" title="Loughlin, J., Irven, C., Hardwick, L. J., Butcher, S., Walsh, S., Wordsworth, P., Sykes, B. <strong>Linkage of the gene that encodes the alpha-1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II).</strong> Hum. Molec. Genet. 4: 1649-1651, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541855</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1649" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541855">Loughlin et al. (1995)</a> may be the genetic heterogeneity of EDS II. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8541855+7759113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 3-generation family with features of Ehlers-Danlos syndrome types I and II, <a href="#10" class="mim-tip-reference" title="Burrows, N. P., Nicholls, A. C., Yates, J. R. W., Gatward, G., Sarathachandra, P., Richards, A., Pope, F. M. <strong>The gene encoding collagen alpha-1(V) (COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II.</strong> J. Invest. Derm. 106: 1273-1276, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8752669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8752669</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12348978" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8752669">Burrows et al. (1996)</a> observed tight linkage to the COL5A1 gene (<a href="/entry/120215">120215</a>) on chromosome 9q34; a lod score of 4.07 at zero recombinations located on 9q34.2-q34.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8752669" 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="#23" class="mim-tip-reference" title="Greenspan, D. S., Northrup, H., Au, K.-S., McAllister, K. A., Francomano, C. A., Wenstrup, R. J., Marchuk, D. A., Kwiatkowski, D. J. <strong>COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II.</strong> Genomics 25: 737-739, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7759113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7759113</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80021-d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7759113">Greenspan et al. (1995)</a> used 3-prime untranslated region RFLPs to exclude the COL5A1 gene as a candidate in families with Ehlers-Danlos syndrome type II. The reason for inconsistency with the findings of <a href="#29" class="mim-tip-reference" title="Loughlin, J., Irven, C., Hardwick, L. J., Butcher, S., Walsh, S., Wordsworth, P., Sykes, B. <strong>Linkage of the gene that encodes the alpha-1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II).</strong> Hum. Molec. Genet. 4: 1649-1651, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541855</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1649" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541855">Loughlin et al. (1995)</a> may be the genetic heterogeneity of EDS II. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8541855+7759113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 3-generation family with features of Ehlers-Danlos syndrome types I and II, <a href="#10" class="mim-tip-reference" title="Burrows, N. P., Nicholls, A. C., Yates, J. R. W., Gatward, G., Sarathachandra, P., Richards, A., Pope, F. M. <strong>The gene encoding collagen alpha-1(V) (COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II.</strong> J. Invest. Derm. 106: 1273-1276, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8752669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8752669</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12348978" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8752669">Burrows et al. (1996)</a> observed tight linkage to the COL5A1 gene (<a href="/entry/120215">120215</a>) on chromosome 9q34; a lod score of 4.07 at zero recombination was calculated. The variation in expression in this family suggested that EDS types I and II are allelic, and the linkage data supported the hypothesis that a mutation in COL5A1 can cause both phenotypes. was calculated. The variation in expression in this family suggested that EDS types I and II are allelic, and the linkage data supported the hypothesis that a mutation in COL5A1 can cause both phenotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8752669" 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="#50" class="mim-tip-reference" title="Wenstrup, R. J., Langland, G. T., Willing, M. C., D'Souza, V. N., Cole, W. G. <strong>A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro-alpha-1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).</strong> Hum. Molec. Genet. 5: 1733-1736, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8923000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8923000</a>] [<a href="https://doi.org/10.1093/hmg/5.11.1733" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8923000">Wenstrup et al. (1996)</a> reported 2 families in which EDS I cosegregated with the gene encoding the pro-alpha-1(V) collagen chains (COL5A1). In 2 other families with EDS I, linkage was excluded from both the COL5A1 and the COL5A2 loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8923000" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a large Azerbaijanian family with typical clinical manifestations of EDS I, <a href="#43" class="mim-tip-reference" title="Sokolov, B. P., Prytkov, A. N., Tromp, G., Knowlton, R. G., Prockop, D. J. <strong>Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family.</strong> Hum. Genet. 88: 125-129, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1684560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1684560</a>] [<a href="https://doi.org/10.1007/BF00206058" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1684560">Sokolov et al. (1991)</a> excluded linkage with 3 collagen genes: COL1A1 (<a href="/entry/120150">120150</a>), COL1A2 (<a href="/entry/120160">120160</a>), and COL3A1 (<a href="/entry/120180">120180</a>). At least in this family, the mutation appeared not to lie in any of these genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1684560" 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="#50" class="mim-tip-reference" title="Wenstrup, R. J., Langland, G. T., Willing, M. C., D'Souza, V. N., Cole, W. G. <strong>A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro-alpha-1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).</strong> Hum. Molec. Genet. 5: 1733-1736, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8923000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8923000</a>] [<a href="https://doi.org/10.1093/hmg/5.11.1733" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8923000">Wenstrup et al. (1996)</a> demonstrated that affected individuals in one of the EDS I COL5A1-linked families were heterozygous for a 4-bp deletion in intron 65 which led to a 234-bp deletion of exon 65 in the processed mRNA for pro-alpha-1(V) chains (<a href="/entry/120215#0002">120215.0002</a>). <a href="#50" class="mim-tip-reference" title="Wenstrup, R. J., Langland, G. T., Willing, M. C., D'Souza, V. N., Cole, W. G. <strong>A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro-alpha-1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).</strong> Hum. Molec. Genet. 5: 1733-1736, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8923000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8923000</a>] [<a href="https://doi.org/10.1093/hmg/5.11.1733" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8923000">Wenstrup et al. (1996)</a> noted that the fact that EDS II has been reported to be linked to COL5A1 is indicative that EDS types I and II constitute a clinical and molecular spectrum. They concluded that EDS I and EDS II are genetically heterogeneous. They were unable to distinguish clinically between the COL5A1-linked and unlinked families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8923000" 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 2 unrelated patients with classic EDS I, <a href="#35" class="mim-tip-reference" title="Nuytinck, L., Freund, M., Lagae, L., Pierard, G. E., Hermanns-Le, T., De Paepe, A. <strong>Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.</strong> Am. J. Hum. Genet. 66: 1398-1402, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10739762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10739762</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10739762[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/10.1086/302859" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10739762">Nuytinck et al. (2000)</a> identified a heterozygous missense mutation in the COL1A1 gene (<a href="/entry/120150#0059">120150.0059</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10739762" 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="#30" class="mim-tip-reference" title="Malfait, F., Coucke, P., Symoens, S., Loeys, B., Nuytinck, L., De Paepe, A. <strong>The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.</strong> Hum. Mutat. 25: 28-37, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15580559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15580559</a>] [<a href="https://doi.org/10.1002/humu.20107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15580559">Malfait et al. (2005)</a> studied fibroblast cultures from 48 patients with classic EDS for the presence of type V collagen defects. Forty-two (88%) were heterozygous for an expressed polymorphic variant of COL5A1, and cDNA from 18 (43%) expressed only 1 COL5A1 allele. In total, 17 mutations leading to a premature stop codon and 5 structural mutations were identified in the COL5A1 and COL5A2 genes. In 3 patients with a positive COL5A1 null-allele test, no mutation was found. Overall, in 25 of the 48 patients (52%), an abnormality in type V collagen was confirmed. Variability in severity of the phenotype was observed, but no significant genotype-phenotype correlations were found. The relatively low mutation detection rate suggested that other genes are involved in classic EDS. <a href="#30" class="mim-tip-reference" title="Malfait, F., Coucke, P., Symoens, S., Loeys, B., Nuytinck, L., De Paepe, A. <strong>The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.</strong> Hum. Mutat. 25: 28-37, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15580559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15580559</a>] [<a href="https://doi.org/10.1002/humu.20107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15580559">Malfait et al. (2005)</a> excluded COL1A1, COL1A2 (<a href="/entry/120160">120160</a>), and DCN (<a href="/entry/125255">125255</a>) as major candidate genes for classic EDS, since they could find no causal mutation in these genes in a number of patients who tested negative for COL5A1 and COL5A2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15580559" 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="#36" class="mim-tip-reference" title="Pallotta, R., Ehresmann, T., Fusilli, P., De Paepe, A., Nuytinck, L. <strong>Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome. (Letter)</strong> Am. J. Med. Genet. 2004 128A: 436-438, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15264295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15264295</a>] [<a href="https://doi.org/10.1002/ajmg.a.20576" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15264295">Pallotta et al. (2004)</a> described a 2-generation family with EDS in which 2 children exhibited features suggestive of EDS I and their mother exhibited features more suggestive of EDS IV (<a href="/entry/130050">130050</a>), i.e., she had thin nose and thin lips, thin translucent skin with prominent vasculature, and acroosteolysis. No mutation was identified in the COL3A1 gene (<a href="/entry/120180">120180</a>), but a deletion mutation was detected in the COL5A1 gene (<a href="/entry/120215#0011">120215.0011</a>) in all 3 affected family members. The molecular diagnosis allowed the investigators to categorize the family into the classic form of EDS, which is associated with a good long-term prognosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15264295" 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="#45" class="mim-tip-reference" title="Symoens, S., Syx, D., Malfait, F., Callewaert, B., De Backer, J., Vanakker, O., Coucke, P., De Paepe, A. <strong>Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.</strong> Hum. Mutat. 33: 1485-1493, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22696272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22696272</a>] [<a href="https://doi.org/10.1002/humu.22137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22696272">Symoens et al. (2012)</a> analyzed COL5A1 and COL5A2 in 126 patients with a diagnosis or suspicion of classic EDS. In 93 patients, a type V collagen defect was found, of which 73 were COL5A1 mutations, 13 were COL5A2 mutations, and 7 were COL5A1 null-alleles with mutation unknown. The majority of the 73 COL5A1 mutations generated a COL5A1 null-allele, whereas one-third were structural mutations, scattered throughout COL5A1. All COL5A2 mutations were structural mutations. Reduced availability of type V collagen appeared to be the major disease-causing mechanism, besides other intra- and extracellular contributing factors. All type V collagen defects were identified within a group of 102 patients fulfilling all major clinical Villefranche criteria, that is, skin hyperextensibility, dystrophic scarring, and joint hypermobility. No COL5A1/COL5A2 mutation was detected in 24 patients who displayed skin and joint hyperextensibility but lacked dystrophic scarring. Overall, over 90% of patients fulfilling all major Villefranche criteria for classic EDS were shown to harbor a type V collagen defect, indicating that this is the major, if not the only, cause of classic EDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22696272" 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><strong><em>Reviews</em></strong></p><p>
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Molecular defects in collagen in the several forms of EDS were surveyed by <a href="#38" class="mim-tip-reference" title="Prockop, D. J., Kivirikko, K. I. <strong>Heritable diseases of collagen.</strong> New Eng. J. Med. 311: 376-386, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6146097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6146097</a>] [<a href="https://doi.org/10.1056/NEJM198408093110606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6146097">Prockop and Kivirikko (1984)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6146097" 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><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between a complex multisystem disorder with connective tissue abnormalities reminiscent of Ehlers-Danlos syndrome and variation in the LAMA5 gene, see <a href="/entry/601033#0002">601033.0002</a>.</p>
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<p><a href="#2" class="mim-tip-reference" title="Barabas, A. P. <strong>Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s).</strong> Brit. Med. J. 2: 612-613, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6025600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6025600</a>] [<a href="https://doi.org/10.1136/bmj.2.5552.612" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6025600">Barabas (1967)</a> suggested the existence of 3 distinct types of the Ehlers-Danlos syndrome. In the classic type, the patients are born prematurely because of premature rupture of fetal membranes, and have severe skin and joint involvement but no varicose veins or arterial ruptures. A second (mild or 'varicose') group is not born prematurely and, although varicose veins are severe, the skin and joint manifestations are not. In a third ('arterial') group, bruising, including spontaneous ecchymoses during menstruation, is a paramount sign. Skin is soft and transparent but not very extensible, and joint hypermobility is limited to the hands. Severe and unexplained abdominal pain is a feature. Repeated arterial ruptures occur in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6025600" 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>According to the original Beighton classification (<a href="#6" class="mim-tip-reference" title="Beighton, P. <strong>The Ehlers-Danlos Syndrome.</strong> London: William Heinemann (pub.) 1970."None>Beighton, 1970</a>), EDS I is the severe form of classic Ehlers-Danlos syndrome and EDS II is the mild form.</p><p>According to the classification used by <a href="#32" class="mim-tip-reference" title="McKusick, V. A. <strong>Heritable Disorders of Connective Tissue. (4th ed.)</strong> St. Louis: C. V. Mosby (pub.) 1972."None>McKusick (1972)</a>: EDS I, or gravis type, is the severe classic form. EDS II (<a href="/entry/130010">130010</a>), or mitis type, is the mild classic form. EDS III (<a href="/entry/130020">130020</a>) is the benign hypermobility form. EDS IV (<a href="/entry/130050">130050</a>) is the arterial, ecchymotic or Sack form. EDS V (see <a href="/entry/314400">314400</a>) was a possible X-linked form. EDS VI (<a href="/entry/225400">225400</a>) is the form due to deficiency of lysyl hydroxylase. EDS VII (<a href="/entry/225410">225410</a>) is the form due to deficiency of procollagen protease. EDS VIII (<a href="/entry/130080">130080</a>) is the form with accompanying periodontitis. EDS IX (<a href="/entry/304150">304150</a>) is the form with occipital horns. EDS X (<a href="/entry/225310">225310</a>) is the form with a possible fibronectin defect. EDS XI (<a href="/entry/147900">147900</a>) is the familial joint instability syndrome.</p><p><a href="#44" class="mim-tip-reference" title="Steinmann, B., Royce, P. M., Superti-Furga, A. <strong>The Ehlers-Danlos syndrome. In: Royce, P. M.; Steinmann, B. (eds.): Connective Tissue and its Heritable Disorders: Molecular, Genetic, and Medical Aspects. (2nd ed.)</strong> New York: Wiley Liss (pub.) 2002. Pp. 431-524."None>Steinmann et al. (2002)</a> noted that EDS IX (EDS9) and EDS XI (EDS11) have been reclassified as occipital horn syndrome and familial joint hypermobility syndrome, respectively, and that the existence of EDS V (EDS5), EDS VIII (EDS8), and EDS X (EDS10) as distinct entities is questionable.</p><p>In the Villefranche classification of EDS (<a href="#3" class="mim-tip-reference" title="Beighton, P., De Paepe, A., Steinmann, B., Tsipouras, P., Wenstrup, R. J. <strong>Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997.</strong> Am. J. Med. Genet. 77: 31-37, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9557891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9557891</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19980428)77:1<31::aid-ajmg8>3.0.co;2-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9557891">Beighton et al., 1998</a>), 6 main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and EDS II, <a href="/entry/130010">130010</a>), hypermobility type (EDS III, <a href="/entry/130020">130020</a>), vascular type (EDS IV, <a href="/entry/130050">130050</a>), kyphoscoliosis type (EDS VI, <a href="/entry/225400">225400</a>), arthrochalasia type (EDS VIIA and VIIB, <a href="/entry/130060">130060</a>), and dermatosparaxis type (EDS VIIC, <a href="/entry/225410">225410</a>). Six other forms were listed, including a category of 'unspecified forms.' Major and minor diagnostic criteria were defined for each type and complemented whenever possible with laboratory findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9557891" 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 href="#Beighton1969" class="mim-tip-reference" title="Beighton, P. H., Price, A., Lord, J., Dickson, E. R. <strong>Variants of the Ehlers-Danlos syndrome: clinical, biochemical, haematological, and chromosomal features of 100 patients.</strong> Ann. Rheum. Dis. 28: 228-245, 1969.">Beighton et al. (1969)</a>; <a href="#Beighton1969" class="mim-tip-reference" title="Beighton, P. H., Price, A., Lord, J., Dickson, E. R. <strong>Variants of the Ehlers-Danlos syndrome: clinical, biochemical, haematological, and chromosomal features of 100 patients.</strong> Ann. Rheum. Dis. 28: 228-245, 1969.">Beighton et al. (1969)</a>; <a href="#Bruno1961" class="mim-tip-reference" title="Bruno, M. S., Narasimhan, P. <strong>The Ehlers-Danlos syndrome: a report of four cases in two generations of a Negro family.</strong> New Eng. J. Med. 264: 274-277, 1961.">Bruno and Narasimhan
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(1961)</a>; <a href="#Coventry1961" class="mim-tip-reference" title="Coventry, M. B. <strong>Some skeletal changes in the Ehlers-Danlos syndrome: a report of two cases.</strong> J. Bone Joint Surg. Am. 43: 855-860, 1961.">Coventry (1961)</a>; <a href="#Day1961" class="mim-tip-reference" title="Day, H. J., Zarafonetis, C. J. D. <strong>Coagulation studies in 4 patients with Ehlers-Danlos syndrome.</strong> Am. J. Med. Sci. 242: 565-573, 1961.">Day and Zarafonetis (1961)</a>; <a href="#Goodman1962" class="mim-tip-reference" title="Goodman, R. M., Levitsky, J. M., Friedman, I. A. <strong>The Ehlers-Danlos syndrome and multiple neurofibromatosis in a kindred of mixed derivations, with special emphasis on hemostasis in the Ehlers-Danlos syndrome.</strong> Am. J. Med. 32: 976-983, 1962.">Goodman et al.
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(1962)</a>; <a href="#Grahame1969" class="mim-tip-reference" title="Grahame, R., Beighton, P. <strong>Physical properties of the skin in the Ehlers-Danlos syndrome.</strong> Ann. Rheum. Dis. 28: 246-251, 1969.">Grahame and Beighton (1969)</a>; <a href="#Hegreberg1970" class="mim-tip-reference" title="Hegreberg, G. A., Padgett, G. A., Otto, R. L., Henson, J. B. <strong>A heritable connective tissue disease of dogs and mink resembling Ehlers-Danlos syndrome of man. I. Skin tensile strength properties.</strong> J. Invest. Derm. 54: 377-380, 1970.">Hegreberg et al. (1970)</a>; <a href="#Hines1973" class="mim-tip-reference" title="Hines, C., Jr., Davis, W. D., Jr. <strong>Ehlers-Danlos syndrome with megaduodenum and malabsorption syndrome secondary to bacterial overgrowth: a report of the first case.</strong> Am. J. Med. 54: 539-543, 1973.">Hines
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and Davis (1973)</a>; <a href="#Imahori1969" class="mim-tip-reference" title="Imahori, S., Bannerman, R. M., Graf, C. J., Brennan, J. C. <strong>Ehlers-Danlos syndrome with multiple arterial lesions.</strong> Am. J. Med. 47: 967-977, 1969.">Imahori et al. (1969)</a>; <a href="#Lees1969" class="mim-tip-reference" title="Lees, M. H., Menashe, V. D., Sunderland, C. O., Morgan, C. L., Dawson, P. J. <strong>Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries.</strong> J. Pediat. 75: 1031-1036, 1969.">Lees et al. (1969)</a>; <a href="#Scarpelli1968" class="mim-tip-reference" title="Scarpelli, D. G., Goodman, R. M. <strong>Observations on the fine structure of the fibroblast from a case of Ehlers-Danlos syndrome with the Marfan syndrome.</strong> J. Invest. Derm. 50: 214-219, 1968.">Scarpelli and Goodman (1968)</a>; <a href="#Sestak1962" 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.">Sestak (1962)</a>; <a href="#Vogel1979" class="mim-tip-reference" title="Vogel, A., Holbrook, K. A., Steinmann, B., Gitzelmann, R., Byers, P. H. <strong>Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome.</strong> Lab. Invest. 40: 201-206, 1979.">Vogel et al. (1979)</a>
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<strong>Ehlers-Danlos syndrome associated with prematurity and premature rupture of foetal membranes.</strong>
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Brit. Med. J. 2: 682-684, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5912902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5912902</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5912902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s).</strong>
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Brit. Med. J. 2: 612-613, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6025600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6025600</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6025600" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Beighton, P., De Paepe, A., Steinmann, B., Tsipouras, P., Wenstrup, R. J.
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<strong>Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997.</strong>
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Am. J. Med. Genet. 77: 31-37, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9557891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9557891</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9557891" 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/(sici)1096-8628(19980428)77:1<31::aid-ajmg8>3.0.co;2-o" target="_blank">Full Text</a>]
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Beighton, P. H., Murdoch, J. L., Votteler, T.
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<strong>Gastrointestinal complications of the Ehlers-Danlos syndrome.</strong>
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Gut 10: 1004-1008, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5308459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5308459</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5308459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Beighton, P. H., Price, A., Lord, J., Dickson, E. R.
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<strong>Variants of the Ehlers-Danlos syndrome: clinical, biochemical, haematological, and chromosomal features of 100 patients.</strong>
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Ann. Rheum. Dis. 28: 228-245, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5772518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5772518</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5772518" 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.33541" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/1523-1747.ep12348978" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.21934" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1177/014107689408700517" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/S0140-6736(00)04661-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/ard.53.12.841-c" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1464-410x.1967.tb09815.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1982.tb00958.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9343(62)90044-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1965.00470060098011" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/ard.28.3.246" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0888-7543(95)80021-d" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/1523-1747.ep12259079" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9343(73)90051-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9343(69)90210-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320180423" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.20107" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.c.31552" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0167-5273(92)90311-p" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/302859" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20576" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archopht.1966.03850010819007" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM198408093110606" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.21.3.226" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/jid.1968.29" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF02616763" target="_blank">Full Text</a>]
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<strong>Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family.</strong>
|
|
Hum. Genet. 88: 125-129, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1684560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1684560</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1684560" 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/10.1007/BF00206058" target="_blank">Full Text</a>]
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</p>
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</div>
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<a id="44" class="mim-anchor"></a>
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<a id="Steinmann2002" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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Steinmann, B., Royce, P. M., Superti-Furga, A.
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|
<strong>The Ehlers-Danlos syndrome. In: Royce, P. M.; Steinmann, B. (eds.): Connective Tissue and its Heritable Disorders: Molecular, Genetic, and Medical Aspects. (2nd ed.)</strong>
|
|
New York: Wiley Liss (pub.) 2002. Pp. 431-524.
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</p>
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<a id="45" class="mim-anchor"></a>
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<a id="Symoens2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Symoens, S., Syx, D., Malfait, F., Callewaert, B., De Backer, J., Vanakker, O., Coucke, P., De Paepe, A.
|
|
<strong>Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.</strong>
|
|
Hum. Mutat. 33: 1485-1493, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22696272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22696272</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22696272" 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/humu.22137" 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="46" class="mim-anchor"></a>
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<a id="Varadi1965" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Varadi, D. P., Hall, D. A.
|
|
<strong>Cutaneous elastin in Ehlers-Danlos syndrome.</strong>
|
|
Nature 208: 1224-1225, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5870329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5870329</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5870329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/2081224b0" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="47" class="mim-anchor"></a>
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<a id="Voermans2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Voermans, N. C., van Alfen, N., Pillen, S., Lammens, M., Schalkwijk, J., Zwarts, M. J., van Rooij, I. A., Hamel, B. C. J., van Engelen, B. G.
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<strong>Neuromuscular involvement in various types of Ehlers-Danlos syndrome.</strong>
|
|
Ann. Neurol. 65: 687-697, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19557868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19557868</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19557868" 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/ana.21643" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="48" class="mim-anchor"></a>
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<a id="Vogel1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vogel, A., Holbrook, K. A., Steinmann, B., Gitzelmann, R., Byers, P. H.
|
|
<strong>Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome.</strong>
|
|
Lab. Invest. 40: 201-206, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/431039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">431039</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=431039" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="49" class="mim-anchor"></a>
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<a id="Wechsler1964" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wechsler, H. L., Fisher, E. R.
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<strong>Ehlers-Danlos syndrome: pathologic, histochemical and electron microscopic observations.</strong>
|
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Arch. Path. 77: 613-619, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14130047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14130047</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14130047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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<li>
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<a id="50" class="mim-anchor"></a>
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<a id="Wenstrup1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wenstrup, R. J., Langland, G. T., Willing, M. C., D'Souza, V. N., Cole, W. G.
|
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<strong>A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro-alpha-1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).</strong>
|
|
Hum. Molec. Genet. 5: 1733-1736, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8923000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8923000</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8923000" 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/5.11.1733" target="_blank">Full Text</a>]
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<li>
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<a id="51" class="mim-anchor"></a>
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<a id="Wenstrup2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wenstrup, R. J., Meyer, R. A., Lyle, J. S., Hoechstetter, L., Rose, P. S., Levy, H. P., Francomano, C. A.
|
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<strong>Prevalence of aortic root dilation in the Ehlers-Danlos syndrome.</strong>
|
|
Genet. Med. 4: 112-117, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12180144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12180144</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12180144" 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/10.1097/00125817-200205000-00003" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="52" class="mim-anchor"></a>
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<a id="Zalis1967" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zalis, E. G., Roberts, D. C.
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<strong>Ehlers-Danlos syndrome with a hypoplastic kidney, bladder diverticulum, and diaphragmatic hernia.</strong>
|
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Arch. Derm. 96: 540-544, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4964142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4964142</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4964142" 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.96.5.540" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 06/25/2024
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Nara Sobreira - updated : 2/25/2013<br>Marla J. F. O'Neill - updated : 2/3/2011<br>Cassandra L. Kniffin - updated : 5/11/2010<br>Cassandra L. Kniffin - updated : 2/3/2010<br>Kelly A. Przylepa - updated : 3/15/2007<br>Victor A. McKusick - updated : 2/4/2005<br>Ada Hamosh - updated : 3/5/2003<br>Victor A. McKusick - updated : 4/21/1998<br>Victor A. McKusick - updated : 4/15/1998<br>Moyra Smith - updated : 1/29/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/27/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/26/2024<br>carol : 07/17/2019<br>ckniffin : 03/04/2019<br>carol : 05/30/2018<br>carol : 12/22/2017<br>carol : 12/22/2017<br>carol : 12/21/2017<br>carol : 07/09/2016<br>carol : 9/15/2015<br>carol : 4/14/2015<br>carol : 4/13/2015<br>carol : 1/21/2015<br>carol : 2/25/2013<br>alopez : 1/20/2012<br>wwang : 2/8/2011<br>terry : 2/3/2011<br>terry : 1/13/2011<br>wwang : 5/13/2010<br>ckniffin : 5/11/2010<br>ckniffin : 5/11/2010<br>wwang : 2/17/2010<br>ckniffin : 2/3/2010<br>carol : 1/21/2010<br>carol : 4/25/2007<br>carol : 4/18/2007<br>carol : 4/13/2007<br>joanna : 3/26/2007<br>carol : 3/15/2007<br>terry : 5/23/2005<br>carol : 2/25/2005<br>wwang : 2/16/2005<br>wwang : 2/10/2005<br>terry : 2/4/2005<br>carol : 12/3/2003<br>carol : 10/19/2003<br>carol : 4/4/2003<br>cwells : 3/6/2003<br>cwells : 3/5/2003<br>mcapotos : 7/5/2001<br>carol : 3/6/2001<br>terry : 7/25/2000<br>carol : 5/25/2000<br>carol : 2/17/2000<br>terry : 4/30/1999<br>carol : 11/13/1998<br>carol : 11/13/1998<br>carol : 5/9/1998<br>terry : 4/21/1998<br>carol : 4/17/1998<br>terry : 4/15/1998<br>mark : 1/29/1997<br>terry : 1/28/1997<br>mark : 1/28/1997<br>terry : 11/6/1996<br>carol : 2/13/1995<br>mimadm : 9/24/1994<br>terry : 8/30/1994<br>davew : 8/15/1994<br>warfield : 2/15/1994<br>carol : 10/26/1993
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</span>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 130000
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1
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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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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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EHLERS-DANLOS SYNDROME, TYPE I, FORMERLY; EDS1, FORMERLY<br />
|
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EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE, FORMERLY<br />
|
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EDS I, FORMERLY<br />
|
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EHLERS-DANLOS SYNDROME, GRAVIS TYPE, FORMERLY
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 287;
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<strong>DO:</strong> 14720;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
Phenotype
|
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
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<th>
|
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Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
9q34.3
|
|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
Ehlers-Danlos syndrome, classic type, 1
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
130000
|
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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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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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3
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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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COL5A1
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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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120215
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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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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because Ehlers-Danlos syndrome classic type 1 (EDSCL1) is caused by heterozygous mutation in the collagen alpha-1(V) gene (COL5A1; 120215) on chromosome 9q34.</p><p>Rarely, specific mutations in the COL1A1 gene (e.g., R134C, 120150.0059) cause classic EDS.</p>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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<span class="mim-text-font">
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<p>The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993).</p><p><strong><em>Genetic Heterogeneity of Classic Ehlers-Danlos Syndrome</em></strong></p><p>
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See EDSCL2 (130010), caused by mutation in the COL5A2 gene (120190) on chromosome 2q32.</p><p><strong><em>Classification of Ehlers-Danlos Syndrome</em></strong></p><p>
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The current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by Malfait et al. (2017), which recognized 13 EDS subtypes: classic, classic-like (606408, 618000, 620865), cardiac-valvular (225320), vascular (130050), hypermobile (130020), arthrochalasia (130060, 617821), dermatosparaxis (225410), kyphoscoliotic (225400, 614557), spondylodysplastic (130070, 615349), musculocontractural (601776, 615539), myopathic (616471), periodontal (130080, 617174), and brittle cornea syndrome (229200, 614170). This classification is a revision of the 'Villefranche classification' reported by Beighton et al. (1998), which was widely used in the literature and in OMIM. For a description of the Villefranche classification, see HISTORY. </p><p>In an early classification of EDS, the designations EDS I and EDS II were used for severe and mild forms of classic EDS, respectively. EDS I was characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurred in approximately 50% of cases. Internal complications such as aortic and bowel rupture were occasionally present. EDS II had all the stigmata of EDS I, but to a minor degree (summary by Steinmann et al., 2002).</p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</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>Graf (1965) reported a brother and sister with Ehlers-Danlos syndrome who developed 'spontaneous' carotid-cavernous fistula. Internal complications included rupture of large vessels, hiatus hernia, spontaneous rupture of the bowel, and diverticula of the bowel. Retinal detachment has been observed (Pemberton et al., 1966). Schofield et al. (1970) reported brother and sister in their 60s who suffered spontaneous rupture of the colon. They had joint laxity, and both bruised easily and sustained many lacerations from minor trauma. The father of the 2 sibs and the son of the brother may have been affected. </p><p>Barabas (1966) concluded that most persons with EDS are born prematurely due to premature rupture of fetal membranes. </p><p>Patients with urinary tract infection and other problems related to bladder diverticulum were reported by Eadie and Wilkins (1967) and by Zalis and Roberts (1967). Cuckow et al. (1994) described a 4-year-old boy with huge bladder diverticula complicating type I EDS. </p><p>Friedman and Harrod (1982) described a severe form of EDS. The mother died of dissecting aneurysm of the aorta. Autopsy also showed myxomatous changes in the mitral and tricuspid valves with redundancy of cusps and chordae. Both mother and son had large hernias, positional foot deformities, abnormal thoracic shape, asthma, and severe eczematoid dermatitis. In an 18-year-old girl with EDS, Mishra et al. (1992) demonstrated aneurysm of the membranous ventricular septum as well as mitral valve prolapse. The patient had had lumbosacral fusion for recurrent spondylolisthesis. </p><p>In a large Azerbaijanian village (population about 6,000), Kozlova et al. (1984) observed a kindred with 92 persons affected with EDS I. One patient, whose affected parents were cousins, was judged to be homozygous. </p><p>The minimal diagnostic features for EDS I used in the study of Wenstrup et al. (1996) were autosomal dominant inheritance, generalized joint laxity, hyperextensible skin with doughy and velvety texture, and the presence of widened atrophic scars. The criterion used to distinguish EDS II from EDS I was the absence of widened atrophic scars in EDS II. </p><p>De Felice et al. (2001) studied 4 patients with EDS II and 8 patients with EDS III (130020), the hypermobile type. They concluded that absence of the inferior labial frenulum and the lingual frenulum are characteristics of EDS. Absence of the inferior labial frenulum showed 100% sensitivity and 99.4% specificity; absence of the lingual frenulum showed 71.4% sensitivity and 100% specificity. </p><p>Wenstrup et al. (2002) performed a prospective cohort study on 71 consecutive EDS patients. Twenty of 71, or 28%, had aortic root dilatation defined as greater than 2 standard deviations above population-based norms. Fourteen of 42 individuals with the classic form of EDS (types I and II) and 6 of 29 individuals with the hypermobility form (EDS III) had aortic root dilatation, with no gender differences. Wenstrup et al. (2002) concluded that aortic root dilatation is a common finding in EDS. However, rates of progression and complication were unknown. </p><p>Nordschow and Marsolais (1969) could demonstrate no abnormality of shrinkage temperature thermograms of tendon collagen from a hypermobile joint of an EDS patient. They supported the suggestion of Wechsler and Fisher (1964) that the defect concerns the amount of collagen produced. Varadi and Hall (1965) concluded that elastin is normal. </p><p>Borck et al. (2010) reported a 42-year-old German man with EDS and spontaneous rupture of his left common iliac artery, who was negative for mutation in COL3A1 but was found instead to carry a de novo heterozygous nonsense mutation (120215.0012) in the COL5A1 gene. The patient had a history of recurrent inguinal hernias and easy bruising since childhood; hypertension had been diagnosed 2 years earlier. Physical examination revealed pigmented scars over bony prominences, molluscoid pseudotumors at elbows and knees, skin hyperextensibility, as well as varicose veins, all consistent with EDS. He had no articular hypermobility or history of joint dislocation, no ophthalmologic involvement, and no kyphoscoliosis or periodontitis. His parents were unaffected and did not carry the mutation; however, his daughter and son, who had smooth skin with a history of easy bruising, which had raised the suspicion of child abuse by schools and social authorities, were also heterozygous for the mutation. Borck et al. (2010) stated that this was the first report of a patient with COL5A1 mutation-positive EDS and rupture of a large artery, suggesting that arterial rupture might be a rare complication of classic EDS. </p><p>Skin like that in EDS has been observed with a fibrinolytic defect (134900).</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>Other Features</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Deodhar and Woolf (1994) suggested that patients with Ehlers-Danlos syndrome are at unusual risk for postmenopausal osteoporosis. </p><p>Voermans et al. (2009) performed a cross-sectional study on the presence of neuromuscular symptoms in 40 patients with various forms of EDS. Ten patients each were analyzed with classic EDS, vascular EDS (130050), hypermobility EDS (130020), and TNX-deficient EDS (606408). Overall, those with classic EDS and TNX-deficient EDS reported the most neuromuscular involvement, with muscle weakness, hypotonia, myalgia, easy fatigability, and intermittent paresthesias, although patients in all groups reported these features. Physical examination showed mild to moderate muscle weakness (85%) and reduction of vibration sense (60%) across all groups. Nerve conduction studies demonstrated axonal polyneuropathy in 5 (13%) of 39 patients. Needle electromyography showed myopathic EMG features in 9 (26%) and a mixed neurogenic-myopathic pattern in 21 (60%) of 35 patients. Muscle ultrasound showed increased echo intensity in 19 (48%) and atrophy in 20 (50%) of 40 patients. Mild myopathic features were seen on muscle biopsy of 5 (28%) of 18 patients. Patients with the hypermobility type EDS caused by TNXB haploinsufficiency were least affected. Voermans et al. (2009) postulated that abnormalities in muscle or nerve extracellular matrix may underlie these findings. </p><p>Castori et al. (2010) observed that patients with EDS reported high levels of chronic pain. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</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>Classic EDS is an autosomal dominant disorder (Wenstrup et al., 1996; De Paepe et al., 1997). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cytogenetics</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>Scarbrough et al. (1984) described what they considered to be EDS II in a 14-year-old male with an unbalanced t(6;13). The karyotype was designated as 45,XY,-6,-13,+der(6),t(6;13)(q27;q11). The patient was monosomic for 13pter-q11 and for a small part of 6q27 (the most distal segment of 6q). Joint hypermobility, velvety skin, several well-healed, parchment-like scars over both shins, and mild propensity for bruising were described. The patient had serious neuropsychiatric problems. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</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>Using an intragenic simple sequence repeat polymorphism of the COL5A1 gene (120215) as a linkage marker, Loughlin et al. (1995) showed linkage to EDS II; maximum lod = 8.3 at theta = 0.00 in a single large pedigree. The COL5A1 gene is located on 9q34.2-q34.3. </p><p>Greenspan et al. (1995) used 3-prime untranslated region RFLPs to exclude the COL5A1 gene as a candidate in families with Ehlers-Danlos syndrome type II. The reason for inconsistency with the findings of Loughlin et al. (1995) may be the genetic heterogeneity of EDS II. </p><p>In a 3-generation family with features of Ehlers-Danlos syndrome types I and II, Burrows et al. (1996) observed tight linkage to the COL5A1 gene (120215) on chromosome 9q34; a lod score of 4.07 at zero recombinations located on 9q34.2-q34.3. </p><p>Greenspan et al. (1995) used 3-prime untranslated region RFLPs to exclude the COL5A1 gene as a candidate in families with Ehlers-Danlos syndrome type II. The reason for inconsistency with the findings of Loughlin et al. (1995) may be the genetic heterogeneity of EDS II. </p><p>In a 3-generation family with features of Ehlers-Danlos syndrome types I and II, Burrows et al. (1996) observed tight linkage to the COL5A1 gene (120215) on chromosome 9q34; a lod score of 4.07 at zero recombination was calculated. The variation in expression in this family suggested that EDS types I and II are allelic, and the linkage data supported the hypothesis that a mutation in COL5A1 can cause both phenotypes. was calculated. The variation in expression in this family suggested that EDS types I and II are allelic, and the linkage data supported the hypothesis that a mutation in COL5A1 can cause both phenotypes. </p><p>Wenstrup et al. (1996) reported 2 families in which EDS I cosegregated with the gene encoding the pro-alpha-1(V) collagen chains (COL5A1). In 2 other families with EDS I, linkage was excluded from both the COL5A1 and the COL5A2 loci. </p><p>In a large Azerbaijanian family with typical clinical manifestations of EDS I, Sokolov et al. (1991) excluded linkage with 3 collagen genes: COL1A1 (120150), COL1A2 (120160), and COL3A1 (120180). At least in this family, the mutation appeared not to lie in any of these genes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</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>Wenstrup et al. (1996) demonstrated that affected individuals in one of the EDS I COL5A1-linked families were heterozygous for a 4-bp deletion in intron 65 which led to a 234-bp deletion of exon 65 in the processed mRNA for pro-alpha-1(V) chains (120215.0002). Wenstrup et al. (1996) noted that the fact that EDS II has been reported to be linked to COL5A1 is indicative that EDS types I and II constitute a clinical and molecular spectrum. They concluded that EDS I and EDS II are genetically heterogeneous. They were unable to distinguish clinically between the COL5A1-linked and unlinked families. </p><p>In 2 unrelated patients with classic EDS I, Nuytinck et al. (2000) identified a heterozygous missense mutation in the COL1A1 gene (120150.0059). </p><p>Malfait et al. (2005) studied fibroblast cultures from 48 patients with classic EDS for the presence of type V collagen defects. Forty-two (88%) were heterozygous for an expressed polymorphic variant of COL5A1, and cDNA from 18 (43%) expressed only 1 COL5A1 allele. In total, 17 mutations leading to a premature stop codon and 5 structural mutations were identified in the COL5A1 and COL5A2 genes. In 3 patients with a positive COL5A1 null-allele test, no mutation was found. Overall, in 25 of the 48 patients (52%), an abnormality in type V collagen was confirmed. Variability in severity of the phenotype was observed, but no significant genotype-phenotype correlations were found. The relatively low mutation detection rate suggested that other genes are involved in classic EDS. Malfait et al. (2005) excluded COL1A1, COL1A2 (120160), and DCN (125255) as major candidate genes for classic EDS, since they could find no causal mutation in these genes in a number of patients who tested negative for COL5A1 and COL5A2. </p><p>Pallotta et al. (2004) described a 2-generation family with EDS in which 2 children exhibited features suggestive of EDS I and their mother exhibited features more suggestive of EDS IV (130050), i.e., she had thin nose and thin lips, thin translucent skin with prominent vasculature, and acroosteolysis. No mutation was identified in the COL3A1 gene (120180), but a deletion mutation was detected in the COL5A1 gene (120215.0011) in all 3 affected family members. The molecular diagnosis allowed the investigators to categorize the family into the classic form of EDS, which is associated with a good long-term prognosis. </p><p>Symoens et al. (2012) analyzed COL5A1 and COL5A2 in 126 patients with a diagnosis or suspicion of classic EDS. In 93 patients, a type V collagen defect was found, of which 73 were COL5A1 mutations, 13 were COL5A2 mutations, and 7 were COL5A1 null-alleles with mutation unknown. The majority of the 73 COL5A1 mutations generated a COL5A1 null-allele, whereas one-third were structural mutations, scattered throughout COL5A1. All COL5A2 mutations were structural mutations. Reduced availability of type V collagen appeared to be the major disease-causing mechanism, besides other intra- and extracellular contributing factors. All type V collagen defects were identified within a group of 102 patients fulfilling all major clinical Villefranche criteria, that is, skin hyperextensibility, dystrophic scarring, and joint hypermobility. No COL5A1/COL5A2 mutation was detected in 24 patients who displayed skin and joint hyperextensibility but lacked dystrophic scarring. Overall, over 90% of patients fulfilling all major Villefranche criteria for classic EDS were shown to harbor a type V collagen defect, indicating that this is the major, if not the only, cause of classic EDS. </p><p><strong><em>Reviews</em></strong></p><p>
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Molecular defects in collagen in the several forms of EDS were surveyed by Prockop and Kivirikko (1984). </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between a complex multisystem disorder with connective tissue abnormalities reminiscent of Ehlers-Danlos syndrome and variation in the LAMA5 gene, see 601033.0002.</p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Barabas (1967) suggested the existence of 3 distinct types of the Ehlers-Danlos syndrome. In the classic type, the patients are born prematurely because of premature rupture of fetal membranes, and have severe skin and joint involvement but no varicose veins or arterial ruptures. A second (mild or 'varicose') group is not born prematurely and, although varicose veins are severe, the skin and joint manifestations are not. In a third ('arterial') group, bruising, including spontaneous ecchymoses during menstruation, is a paramount sign. Skin is soft and transparent but not very extensible, and joint hypermobility is limited to the hands. Severe and unexplained abdominal pain is a feature. Repeated arterial ruptures occur in these patients. </p><p>According to the original Beighton classification (Beighton, 1970), EDS I is the severe form of classic Ehlers-Danlos syndrome and EDS II is the mild form.</p><p>According to the classification used by McKusick (1972): EDS I, or gravis type, is the severe classic form. EDS II (130010), or mitis type, is the mild classic form. EDS III (130020) is the benign hypermobility form. EDS IV (130050) is the arterial, ecchymotic or Sack form. EDS V (see 314400) was a possible X-linked form. EDS VI (225400) is the form due to deficiency of lysyl hydroxylase. EDS VII (225410) is the form due to deficiency of procollagen protease. EDS VIII (130080) is the form with accompanying periodontitis. EDS IX (304150) is the form with occipital horns. EDS X (225310) is the form with a possible fibronectin defect. EDS XI (147900) is the familial joint instability syndrome.</p><p>Steinmann et al. (2002) noted that EDS IX (EDS9) and EDS XI (EDS11) have been reclassified as occipital horn syndrome and familial joint hypermobility syndrome, respectively, and that the existence of EDS V (EDS5), EDS VIII (EDS8), and EDS X (EDS10) as distinct entities is questionable.</p><p>In the Villefranche classification of EDS (Beighton et al., 1998), 6 main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and EDS II, 130010), hypermobility type (EDS III, 130020), vascular type (EDS IV, 130050), kyphoscoliosis type (EDS VI, 225400), arthrochalasia type (EDS VIIA and VIIB, 130060), and dermatosparaxis type (EDS VIIC, 225410). Six other forms were listed, including a category of 'unspecified forms.' Major and minor diagnostic criteria were defined for each type and complemented whenever possible with laboratory findings. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Beighton et al. (1969); Beighton et al. (1969); Bruno and Narasimhan
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(1961); Coventry (1961); Day and Zarafonetis (1961); Goodman et al.
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(1962); Grahame and Beighton (1969); Hegreberg et al. (1970); Hines
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and Davis (1973); Imahori et al. (1969); Lees et al. (1969);
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Scarpelli and Goodman (1968); Sestak (1962); Vogel et al. (1979)
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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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Barabas, A. P.
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<strong>Ehlers-Danlos syndrome associated with prematurity and premature rupture of foetal membranes.</strong>
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Brit. Med. J. 2: 682-684, 1966.
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[PubMed: 5912902]
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[Full Text: https://doi.org/10.1136/bmj.2.5515.682]
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</li>
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<li>
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<p class="mim-text-font">
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Barabas, A. P.
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<strong>Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s).</strong>
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Brit. Med. J. 2: 612-613, 1967.
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[PubMed: 6025600]
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[Full Text: https://doi.org/10.1136/bmj.2.5552.612]
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<li>
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<p class="mim-text-font">
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Beighton, P., De Paepe, A., Steinmann, B., Tsipouras, P., Wenstrup, R. J.
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<strong>Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997.</strong>
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Am. J. Med. Genet. 77: 31-37, 1998.
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[PubMed: 9557891]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19980428)77:1<31::aid-ajmg8>3.0.co;2-o]
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<li>
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<p class="mim-text-font">
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Beighton, P. H., Murdoch, J. L., Votteler, T.
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<strong>Gastrointestinal complications of the Ehlers-Danlos syndrome.</strong>
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Gut 10: 1004-1008, 1969.
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[PubMed: 5308459]
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[Full Text: https://doi.org/10.1136/gut.10.12.1004]
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</li>
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