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Entry
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- #130080 - EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1; EDSPD1
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- OMIM
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<p>
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<span class="h4">#130080</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/130080"><strong>Clinical Synopsis</strong></a>
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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="#nomenclature">Nomenclature</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<span class="small">
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<div style="display: table-row">
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div><a href="https://clinicaltrials.gov/search?cond=EHLERS-DANLOS SYNDROME, PERIODONTAL 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=11082&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/NBK572429/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=130080[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=75392" 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/8a06665d-e7b1-4b0a-b45c-aa09adfb470a/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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<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:0080986" 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/130080" 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/OMIA000327/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 50869007<br />
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<strong>ORPHA:</strong> 75392<br />
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<strong>DO:</strong> 0080986<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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130080
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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, PERIODONTAL TYPE, 1; EDSPD1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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EHLERS-DANLOS SYNDROME, TYPE VIII; EDS8<br />
|
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EDS VIII<br />
|
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EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE<br />
|
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EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE
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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">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/12/90?start=-3&limit=10&highlight=90">
|
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12p13.31
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Ehlers-Danlos syndrome, periodontal type, 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/130080"> 130080 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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C1R
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</span>
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613785"> 613785 </a>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
|
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</div>
|
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</div>
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<div>
|
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|
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/130080" 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>
|
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</button>
|
|
</div>
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<div class="btn-group">
|
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|
|
<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>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/130080" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/130080" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
|
</div>
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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">
|
|
|
|
- Tall stature (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248328003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248328003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241240&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241240</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000098" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000098</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000098" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000098</a>]</span><br /> -
|
|
Arm span wider than height (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315988&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315988</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">
|
|
|
|
- Acrogeric facial appearance (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315968&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315968</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">
|
|
|
|
- Early-onset periodontitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/449908004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">449908004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K05.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K05.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0399447&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0399447</a>, <a href="https://bioportal.bioontology.org/search?q=C0031106&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031106</a>]</span><br /> -
|
|
Gingival recession <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4356008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4356008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K06.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K06.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/523.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">523.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/523.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">523.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030816" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030816</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030816" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030816</a>]</span><br /> -
|
|
Minimally attached or unattached gingivae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315967&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315967</a>]</span><br /> -
|
|
Gingival fragility <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315966&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315966</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034518</a>]</span><br /> -
|
|
Gingival thinning <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315965&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315965</a>]</span><br /> -
|
|
Gingival bleeding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86276007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86276007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017565</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000225</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000225</a>]</span><br /> -
|
|
Keratinized gingivae (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1317482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1317482</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Alveolar bone loss around teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315963</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0410027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0410027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410027</a>]</span><br /> -
|
|
Premature and progressive loss of teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315962&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315962</a>]</span><br /> -
|
|
Propensity for calculus formation (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393050&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393050</a>]</span><br /> -
|
|
Periodontal disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2556008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2556008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K05.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K05.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0031090&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031090</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000704" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000704</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000704" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000704</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cerebral artery aneurysm/rupture (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315973&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315973</a>]</span><br /> -
|
|
Aortic aneurysm/dissection (rare) <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I71</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/441" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">441</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/441.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">441.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0012736&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0012736</a>]</span><br /> -
|
|
Prominent subcutaneous vasculature (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4313530&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4313530</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Intestinal perforation (in 1 patient) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56905009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56905009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/569.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">569.83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0021845&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0021845</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031368</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031368</a>]</span><br /> -
|
|
Inguinal hernia (in 1 patient) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396232000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396232000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K40.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">550</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019294</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scoliosis (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</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>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Generalized joint laxity, mild (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315991</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002761</a>]</span><br /> -
|
|
Hypermobility of elbow joints, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315990</a>]</span><br /> -
|
|
Hypermobility of wrists, mild (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315989&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315989</a>]</span><br /> -
|
|
Arm span wider than height (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315988&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315988</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypermobility of finger joints, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315987&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315987</a>]</span><br /> -
|
|
Arachnodactyly (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62250003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62250003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001166</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001519</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001166</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Easy bruising <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 /> -
|
|
Soft skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844592&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844592</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 /> -
|
|
Thin atrophic skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315985</a>]</span><br /> -
|
|
Prominent subcutaneous vasculature (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4313530&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4313530</a>]</span><br /> -
|
|
Increased skin fragility <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315983&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315983</a>]</span><br /> -
|
|
Mild hyperelasticity of skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315982&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315982</a>]</span><br /> -
|
|
Pretibial hyperpigmentation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315981</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034517" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034517</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034517" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034517</a>]</span><br /> -
|
|
Pretibial plaques, hypertrophic or atrophic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315980&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315980</a>]</span><br /> -
|
|
Atrophic scars <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409766009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409766009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239172000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239172000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162154&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162154</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001075</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001075</a>]</span><br /> -
|
|
Thickened scars <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315979&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315979</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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Electron Microscopy </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Increased numbers of fibroblasts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315978&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315978</a>]</span><br /> -
|
|
Decreased collagen content <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315977</a>]</span><br /> -
|
|
Abnormal variation in collagen fibril diameter <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315976&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315976</a>]</span><br /> -
|
|
Abnormally shaped collagen fibrils <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315975&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315975</a>]</span><br /> -
|
|
Abnormally enlarged endoplasmic reticulum cisterns <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315974&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315974</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> VOICE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hoarse voice <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50219008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50219008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R49.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R49.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019825&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019825</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001609" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001609</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001609" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001609</a>]</span><br />
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</span>
|
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</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> IMMUNOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Recurrent infections (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/451991000124106" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">451991000124106</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239998&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239998</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002719</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002719</a>]</span><br /> -
|
|
Autoimmune disorders (in 1 family) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85828009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85828009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M30-M36" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M30-M36</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004364&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004364</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002960" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002960</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>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Caused by mutation in the complement component-1, r-subcomponent gene (C1R, <a href="/entry/613785#0001">613785.0001</a>)<br />
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|
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</span>
|
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</div>
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</div>
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|
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</div>
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
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|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
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|
|
|
|
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|
|
<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>
|
|
|
|
</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/617174"> 617174 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120580"> C1S </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120580"> 120580 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/90?start=-3&limit=10&highlight=90"> 12p13.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/130080"> Ehlers-Danlos syndrome, periodontal 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/130080"> 130080 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613785"> C1R </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613785"> 613785 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/100?start=-3&limit=10&highlight=100"> 15q15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601776"> Ehlers-Danlos syndrome, musculocontractural 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/601776"> 601776 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608429"> CHST14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608429"> 608429 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/727?start=-3&limit=10&highlight=727"> 16q24.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/229200"> Brittle cornea syndrome 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/229200"> 229200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612078"> ZNF469 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612078"> 612078 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/735?start=-3&limit=10&highlight=735"> 17q21.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/130060"> Ehlers-Danlos syndrome, arthrochalasia type, 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<p>A number sign (#) is used with this entry because of evidence that Ehlers-Danlos syndrome periodontal type 1 (EDSPD1) is caused by heterozygous mutation in the C1R gene (<a href="/entry/613785">613785</a>) on chromosome 12p13.</p>
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<p>Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of connective tissue disorders defined by joint laxity and skin alterations that include hyperextensibility, atrophic scarring, and bruising. Periodontal EDS (EDSPD; previously designated 'EDS VIII') is a specific subtype of EDS with autosomal dominant inheritance, in which the defining feature is an EDS phenotype combined with severe periodontal inflammation. In childhood, periodontal inflammation in EDSPD is characterized by extensive gingivitis in response to mild plaque accumulation. In the teens, early-onset periodontitis leads to inflammatory destruction of dental attachment and premature loss of teeth. Other clinical features include pretibial hyperpigmentation, acrogeria, skin and gum fragility, scarring, generalized and/or distal joint hypermobility, and bruising out of proportion to trauma. There are also reports of life-threatening complications such as arterial or gastrointestinal ruptures (summary by <a href="#9" class="mim-tip-reference" title="Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others. <strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong> Am. J. Hum. Genet. 99: 1005-1014, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27745832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27745832</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27745832[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27745832">Kapferer-Seebacher et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27745832" 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>Genetic Heterogeneity of Ehlers-Danlos Syndrome, Periodontal Type</em></strong></p><p>
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Ehlers-Danlos syndrome periodontal type 2 (EDSPD2; <a href="/entry/617174">617174</a>) is caused by mutation in the C1S gene (<a href="/entry/120580">120580</a>) on chromosome 12p13.</p>
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<p><a href="#1" 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> reported on a revised nosology of the Ehlers-Danlos syndromes, designated the Villefranche classification. Major and minor diagnostic criteria were defined for each type and complemented whenever possible with laboratory findings. Six main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and II), hypermobility type (EDS III), vascular type (EDS IV), kyphoscoliosis type (EDS VI), arthrochalasia type (EDS VIIA and VIIB), and dermatosparaxis type (EDS VIIC). Six other forms were listed, one of which was the periodontitis type (EDS VIII). <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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<p><a href="#12" class="mim-tip-reference" title="McKusick, V. A. <strong>Heritable Disorders of Connective Tissue. (4th ed.)</strong> St. Louis: C. V. Mosby (pub.) 1972. Pp. 358-359. Note: Fig. 6-31."None>McKusick (1972)</a> reported a family in which affected members exhibited skin lesions resembling necrobiosis lipoidica diabeticorum in association with periodontal disease leading to early loss of teeth. The skin lesions consisted of symmetrical patches on the front of the shins, about 5 inches long, covered by parchment skin and discolored by blood pigments. The appearance resembled that in the Ehlers-Danlos syndrome. The knees showed small 'cigarette-paper scars.' Loose-jointedness and general bruisability and cutaneous fragility were not present. Furthermore, although the histology of the lesions of the skin suggested necrobiosis lipoidica diabeticorum, no evidence of diabetes was uncovered in any member of the family. In addition to the proband, her father, several paternal uncles and aunts, and a cousin were affected.</p><p><a href="#18" class="mim-tip-reference" title="Stewart, R. E., Hollister, D. W., Rimoin, D. L. <strong>A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontosis.</strong> Birth Defects Orig. Art. Ser. XIII(3B): 85-93, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/890102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">890102</a>]" pmid="890102">Stewart et al. (1977)</a> described a case of this syndrome. The father and a half brother were also affected. A grandparent may have been affected. The proband had some marfanoid manifestations: arachnodactyly, tall stature, and 'skinniness.' Fragile skin, loose joints and cigarette-paper scars were present. Dental problems included extensive periodontal destruction, i.e., alveolar bone loss around the teeth resulting in premature loss of teeth, as well as propensity for calculus formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=890102" 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="Linch, D. C., Acton, C. H. C. <strong>Ehlers-Danlos syndrome presenting with juvenile destructive periodontitis.</strong> Brit. Dent. J. 147: 95-96, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/295230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">295230</a>] [<a href="https://doi.org/10.1038/sj.bdj.4804291" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="295230">Linch and Acton (1979)</a> reported on a 10-year-old black girl with this disorder in whom alveolar bone loss had led initially to the diagnosis of juvenile destructive periodontitis. <a href="#13" class="mim-tip-reference" title="Nelson, D. L., King, R. A. <strong>Ehlers-Danlos syndrome type VIII.</strong> J. Am. Acad. Derm. 5: 297-303, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7263975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7263975</a>] [<a href="https://doi.org/10.1016/s0190-9622(81)70095-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7263975">Nelson and King (1981)</a> reported the disorder in 5 persons in 3 generations. In this family, a 19-year-old woman had periodontal disease beginning at age 13 years. Her sister, aged 18 years, had other features of EDS but did not have periodontitis. Their grandmother had progressive periodontitis with loosening and subsequent loss of permanent teeth, becoming edentulous by age 20 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=295230+7263975" 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 their patient with EDS type VIII and severe periodontitis at age 12 years, <a href="#10" class="mim-tip-reference" title="Lapiere, C. M., Nusgens, B. V. <strong>Ehlers-Danlos (ED) type VIII skin has a reduced proportion of collagen type III. (Abstract)</strong> J. Invest. Derm. 76: 422 only, 1981."None>Lapiere and Nusgens (1981)</a> found a possible defect in type III collagen, which they suggested showed impaired secretion. <a href="#20" class="mim-tip-reference" title="Tsipouras, P., Byers, P. H., Schwartz, R. C., Chu, M. L., Weil, D., Pepe, G., Cassidy, S. B., Ramirez, F. <strong>Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen.</strong> Hum. Genet. 74: 41-46, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2875936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2875936</a>] [<a href="https://doi.org/10.1007/BF00278783" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2875936">Tsipouras et al. (1986)</a> described a family with EDS type IV (<a href="/entry/130050">130050</a>) with a defect in secretion of type III collagen; the proposita showed alveolar bone loss at age 21 years. <a href="#3" class="mim-tip-reference" title="Byers, P. H., Holbrook, K. A., Barsh, G. S. <strong>Ehlers-Danlos syndrome. In: Emery, A. E. H.; Rimoin, D. L.: Principles and Practice of Medical Genetics.</strong> Edinburgh: Churchill Livingstone (pub.) 1983. Pp. 836-850."None>Byers et al. (1983)</a> suggested that periodontal disease may be a characteristic of EDS type IV also and that only biochemical studies can distinguish types IV and VIII. <a href="#2" class="mim-tip-reference" title="Biesecker, L. G., Erickson, R. P., Glover, T. W., Bonadio, J. <strong>Molecular and cytologic studies of Ehlers-Danlos syndrome type VIII.</strong> Am. J. Med. Genet. 41: 284-288, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1789281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1789281</a>] [<a href="https://doi.org/10.1002/ajmg.1320410305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1789281">Biesecker et al. (1991)</a> described a family in which a father and son had EDS type VIII. Some of the clinical features impressed them as suggesting premature aging. Indeed, the father had been thought to have Werner syndrome (<a href="/entry/277700">277700</a>). He had become edentulous at age 16 years because of severe periodontal disease. Multiple striae on the abdominal wall were described in the father and striae on the thighs in the 17-year-old son. The son's teeth were loose and the gingivae erythematous. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2875936+1789281" 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="Hoffman, G. S., Filie, J. D., Schumacher, H. R., Jr., Ortiz-Bravo, E., Tsokos, M. G., Marini, J. C., Kerr, G. S., Ling, Q., Trentham, D. E. <strong>Intractable vasculitis, resorptive osteolysis, and immunity to type I collagen in type VIII Ehlers-Danlos syndrome.</strong> Arthritis Rheum. 34: 1466-1475, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1953824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1953824</a>] [<a href="https://doi.org/10.1002/art.1780341119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1953824">Hoffman et al. (1991)</a> described a patient with EDS type VIII in whom immunity to type I collagen appeared to be responsible for unusual features: intractable vasculitis and resorptive osteolysis. The female patient had a dislocated right hip at birth. By age 10 years, her permanent teeth underwent premature loosening, requiring dental plates. Within several months of the onset of menses at age 13 years, she developed generalized persistent urticaria, which on biopsy was shown to represent small-vessel vasculitis. Within 6 months, symmetric polyarthralgia occurred, affecting small and large joints. The cutaneous manifestations progressed; indeed, they never completely resolved. Erosive arthritis and osteolysis occurred in the hands, toes, and temporomandibular joints. Loss of skin elasticity created prominent furrows, wrinkling, and laxity. Over the next 10 years she developed progressive aortic and mitral regurgitation and possible mitral stenosis. No evidence of connective tissue disorder was found in the family except that the patient's mother had undergone mitral valve replacement for rheumatic heart disease. Collagen analyses identified morphologic and physical abnormalities of type I collagen. The patient's T lymphocytes could be propagated in vitro with type I collagen and produced a 60-kD lymphokine that bound this protein. <a href="#5" class="mim-tip-reference" title="Dyne, K. M., Vitellaro-Zuccarello, L., Bacchella, L., Lanzi, G., Cetta, G. <strong>Ehlers-Danlos syndrome type VIII: biochemical, stereological and immunocytochemical studies on dermis from a child with clinical signs of Ehlers-Danlos syndrome and a family history of premature loss of permanent teeth.</strong> Brit. J. Derm. 128: 458-463, 1993. Note: Erratum: Brit. J. Derm. 129: 226 only, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8494762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8494762</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1993.tb00211.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8494762">Dyne et al. (1993)</a> classified Ehlers-Danlos syndrome in a 9-year-old girl as type VIII because of the presence of periodontitis and a family history of premature loss of permanent teeth. No alterations in the synthesis or secretion of types I and II collagen or in the serum levels of type III procollagen amino-terminal propeptide were found, and morphologic studies revealed only nonspecific changes. In an erratum, <a href="#5" class="mim-tip-reference" title="Dyne, K. M., Vitellaro-Zuccarello, L., Bacchella, L., Lanzi, G., Cetta, G. <strong>Ehlers-Danlos syndrome type VIII: biochemical, stereological and immunocytochemical studies on dermis from a child with clinical signs of Ehlers-Danlos syndrome and a family history of premature loss of permanent teeth.</strong> Brit. J. Derm. 128: 458-463, 1993. Note: Erratum: Brit. J. Derm. 129: 226 only, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8494762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8494762</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1993.tb00211.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8494762">Dyne et al. (1993)</a> pointed out that the summary should have read as follows: 'No alterations in the synthesis or secretion of types I and III collagen...' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1953824+8494762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Rahman, N., Dunstan, M., Teare, M. D., Hanks, S., Douglas, J., Coleman, K., Bottomly, W. E., Campbell, M. E., Berglund, B., Nordenskjold, M., Forssell, B., Burrows, N., Lunt, P., Young, I., Williams, N., Bignell, G. R., Futreal, P. A., Pope, F. M. <strong>Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.</strong> Am. J. Hum. Genet. 73: 198-204, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12776252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12776252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12776252[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/10.1086/376416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12776252">Rahman et al. (2003)</a> reported a large Swedish pedigree in which 17 individuals over 5 generations had EDS VIII. The predominant dental features of the affected individuals were premature periodontal inflammation and gingival recession, usually detectable in childhood, with rapid progression throughout adolescence and early adulthood. Complete loss of adult dentition typically occurred by the end of the third decade in individuals born before 1950. Dental x-rays of selected family members showed progressive loss of periodontal supporting tissue and loss of bony tissue. Affected individuals showed typical features of EDS, with generalized joint laxity, thin atrophic skin (especially over the dorsum of the hands and feet), and circumscribed hemosiderotic pretibial plaques, which could be either thickened or atrophic. Affected individuals were tall, with arm spans greater than their heights. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12776252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Reinstein, E., Wang, R. Y., Zhan, L., Rimoin, D. L., Wilcox, W. R. <strong>Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree.</strong> Am. J. Med. Genet. 155A: 742-747, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21594996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21594996</a>] [<a href="https://doi.org/10.1002/ajmg.a.33914" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21594996">Reinstein et al. (2011)</a> studied a 4-generation kindred with EDS VIII in which 12 affected individuals had joint hypermobility, normal scar formation but eventual scar atrophy, and severe periodontal disease with dental caries and infections. Age at onset and severity of symptoms were variable among affected individuals, confirming intrafamilial variability in this subtype of EDS. Four more family members demonstrated clinical findings suggestive of a connective tissue disorder, such as umbilical hernia, soft skin texture, and various degrees of joint hypermobility; a clear status could not be assigned due to their young age and paucity of other symptoms, primarily dental. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21594996" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Reinstein, E., Pariani, M., Lachman, R. S., Nemec, S., Rimoin, D. L. <strong>Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII.</strong> Am. J. Med. Genet. 158A: 938-941, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22419391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22419391</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22419391[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.35261" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22419391">Reinstein et al. (2012)</a> described a woman, her mother, and her maternal grandmother who were affected with EDS VIII. All 3 became edentulous, at ages 20, 35, and 37 years, respectively, and all had chronic pain involving the back, knees, hips, and finger joints. In addition, the proband and her mother had osteoporosis by bone density scan; the authors noted that they also exhibited the long nose with narrow root and prominent tip that had previously been observed in patients with EDS and periodontal involvement. Considerable childhood joint hypermobility was reported by the patients, but progressive stiffness made it less noticeable at the time of examination. The proband also reported easy bruising but normal wound healing and normal scar formation. Radiologic evaluation of the proband at age 37 showed moderate scoliosis, ossicular findings at the right hip suggestive of gluteal muscle tendinopathy, changes at the right shoulder also suggesting ligamentous disease, and marked osteoarthritis of the right knee. <a href="#16" class="mim-tip-reference" title="Reinstein, E., Pariani, M., Lachman, R. S., Nemec, S., Rimoin, D. L. <strong>Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII.</strong> Am. J. Med. Genet. 158A: 938-941, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22419391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22419391</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22419391[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.35261" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22419391">Reinstein et al. (2012)</a> concluded that EDS VIII can be associated with early-onset degenerative joint disease and reduced bone density. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22419391" 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="Reinstein, E., DeLozier, C. D., Simon, Z., Bannykh, S., Rimoin, D. L., Curry, C. J. <strong>Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.</strong> Europ. J. Hum. Genet. 21: 233-236, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22739343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22739343</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22739343[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22739343">Reinstein et al. (2013)</a> reported a 4-generation family with EDS VIII. The proband was a 7-year-old girl who had gingival disease first noted at age 3 years, as well as easy shin bruising and occasional nosebleeds. Examination at age 5 showed minimal bruising on the shins, mild joint hypermobility, and normal skin consistency with normal scarring. Dental examination revealed severe generalized gingival edema and erythema associated with abundant bacterial biofilm accumulation, and gingival recession was present on some primary and permanent teeth. The gingival tissues were of poor quality with minimally attached and keratinized gingivae, and visible capillaries confirmed its thin nature. Her father had discolored pretibial scarring from shin bruising in adolescence and a history of receding gums and periodontal disease with loss of 6 permanent teeth by age 39. He had no history of dislocations or other joint symptoms, and examination revealed no joint hypermobility, with normal skin and scarring. Electron microscopy of pretibial skin showed decreased collagen content, abnormal variation in collagen fibril diameter, and some abnormally shaped fibers suggesting collagen misassembly. The proband's deceased paternal grandfather was similarly affected and had full dentures by age 42 years; he had severe shin bruising but no joint pain, laxity, or dislocations. The proband's 86-year-old great-grandfather began losing teeth in his early teens; he never had shin bruising or joint problems, and had normal scarring. <a href="#15" class="mim-tip-reference" title="Reinstein, E., DeLozier, C. D., Simon, Z., Bannykh, S., Rimoin, D. L., Curry, C. J. <strong>Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.</strong> Europ. J. Hum. Genet. 21: 233-236, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22739343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22739343</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22739343[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22739343">Reinstein et al. (2013)</a> concluded that EDS VIII is clinically variable and that even cases lacking the associated skin and joint manifestations may show microscopic evidence of collagen disorganization. They reviewed previous reports and suggested that the diagnosis should be considered in patients with dominant familial forms of early-onset periodontal disease and dental loss even when there is little other clinical basis for considering a connective tissue disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22739343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Cikla, U., Sadighi, A., Bauer, A., Baskaya, M. K. <strong>Fatal ruptured blood blister-like aneurysm of middle cerebral artery associated with Ehlers-Danlos syndrome type VIII (periodontitis type).</strong> J. Neurol. Surg. Rep. 75: e210-e213, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25485215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25485215</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25485215[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/10.1055/s-0034-1387185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25485215">Cikla et al. (2014)</a> described a 42-year-old woman with a diagnosis of EDS VIII who died after surgery for an aneurysm of the middle cerebral artery. She was initially evaluated at age 13 years because of frequent bruising and fragility of the anterior tibial skin as well as gingival retraction and alveolar absorption. She had lost all teeth spontaneously or from extraction by age 19 years due to periodontitis. Examination at age 30 showed soft but not hyperextensible skin, dramatic pigmentary scarring over the tibiae, and mild joint hyperextensibility. Because of phenotypic overlap with EDS IV (<a href="/entry/130050">130050</a>), biochemical and genetic analysis of skin fibroblast collagens was performed, which demonstrated normal type III collagen (COL3A1; <a href="/entry/120180">120180</a>) sequence and expression. At age 42 years, she presented with subarachnoid hemorrhage due to a blood blister-like aneurysm of the left middle cerebral artery. A coiling procedure was unsuccessful and she had continued bleeding from the aneurysm; her neurologic condition remained poor after a second surgical procedure and care was withdrawn at the family's request. <a href="#4" class="mim-tip-reference" title="Cikla, U., Sadighi, A., Bauer, A., Baskaya, M. K. <strong>Fatal ruptured blood blister-like aneurysm of middle cerebral artery associated with Ehlers-Danlos syndrome type VIII (periodontitis type).</strong> J. Neurol. Surg. Rep. 75: e210-e213, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25485215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25485215</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25485215[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/10.1055/s-0034-1387185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25485215">Cikla et al. (2014)</a> concluded that patients with EDS VIII may be at risk for catastrophic vascular events. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25485215" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="George, S. M. C., Vandersteen, A., Nigar, E., Ferguson, D. J. P., Topham, E. J., Pope, F. M. <strong>Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness.</strong> Clin. Exp. Derm. 41: 771-774, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27663155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27663155</a>] [<a href="https://doi.org/10.1111/ced.12911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27663155">George et al. (2016)</a> reported 2 unrelated patients with EDS VIII who also exhibited laryngeal pathology resulting in chronic hoarseness. The first was a 24-year-old Bangladeshi man with early-onset periodontitis in whom examination revealed widespread cutaneous atrophy and hemosiderosis of the shins and ankles, an easily visible venous pattern over the upper arms, thighs, and chest, and acrogeric changes of the face, hands, and feet. His hoarseness resulted from bilateral vocal cord sulci due to laryngeal mucosal hypertrophy. The second patient was a 33-year-old white woman with early-onset periodontal disease who also displayed an acrogeric facial appearance and had a hoarse voice due to cricoarytenoid fibrosis. Her father had early-onset periodontal disease, and she had 2-year-old twin boys with similar acrogeric facial features and lax skin, suggesting that they were likely to be affected. In both probands, collagen I and III protein analyses were normal, and COL3A1 sequencing was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27663155" 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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<a href="#9" class="mim-tip-reference" title="Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others. <strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong> Am. J. Hum. Genet. 99: 1005-1014, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27745832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27745832</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27745832[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27745832">Kapferer-Seebacher et al. (2016)</a> tabulated the clinical features of 93 EDSPD patients with mutations in the C1R or C1S genes (77 and 16 patients, respectively) and observed that the most prevalent features included early-onset periodontitis, gingival recessions, and thin gingiva and/or absence of attached gingiva. Easy bruising was present in most patients, as were pretibial hyperpigmentation, skin fragility, and mildly elastic skin. About half of patients exhibited atrophic scars or wide scarring and/or prominent vasculature. Joint hypermobility was not a consistent finding, and if present was mild and often limited to small joints. Other variable features included recurrent infections, joint pain, flat feet, marfanoid facial features, scoliosis, osteoarthritis, and hernias. A minority of patients had joint dislocations; aneurysms occurred in 4 families, and autoimmune disorders occurred in 1 family. Cancer appeared to be more prevalent in patients with C1S mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27745832" 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="#14" class="mim-tip-reference" title="Rahman, N., Dunstan, M., Teare, M. D., Hanks, S., Douglas, J., Coleman, K., Bottomly, W. E., Campbell, M. E., Berglund, B., Nordenskjold, M., Forssell, B., Burrows, N., Lunt, P., Young, I., Williams, N., Bignell, G. R., Futreal, P. A., Pope, F. M. <strong>Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.</strong> Am. J. Hum. Genet. 73: 198-204, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12776252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12776252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12776252[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/10.1086/376416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12776252">Rahman et al. (2003)</a> performed a genomewide search in 72 individuals from 5 generations of a large Swedish pedigree with EDS VIII and established linkage to a 7-cM interval on chromosome 12p13, generating a maximum multipoint lod score of 5.17. Analysis of 4 other pedigrees with this disorder showed 2 consistent with linkage to 12p13 and 2 in which linkage could be excluded, indicating that EDS type VIII is a genetically heterogeneous disorder. <a href="#14" class="mim-tip-reference" title="Rahman, N., Dunstan, M., Teare, M. D., Hanks, S., Douglas, J., Coleman, K., Bottomly, W. E., Campbell, M. E., Berglund, B., Nordenskjold, M., Forssell, B., Burrows, N., Lunt, P., Young, I., Williams, N., Bignell, G. R., Futreal, P. A., Pope, F. M. <strong>Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.</strong> Am. J. Hum. Genet. 73: 198-204, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12776252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12776252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12776252[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/10.1086/376416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12776252">Rahman et al. (2003)</a> noted that chromosome 12p13 had not previously been implicated in either EDS or periodontal disease and was not known to contain any collagen genes or collagen-processing enzymes. Mutation screening of the microfibril-associated glycoprotein-2 gene (<a href="/entry/601103">601103</a>), within the minimum interval, did not reveal any likely pathogenic mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12776252" 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="Teare, M. D., Barrett, J. H. <strong>Genetic epidemiology 2: genetic linkage studies.</strong> Lancet 366: 1036-1044, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16168786/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16168786</a>] [<a href="https://doi.org/10.1016/S0140-6736(05)67382-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16168786">Teare and Barrett (2005)</a> used EDS VIII as an example to illustrate parametric linkage analysis of pedigrees. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16168786" 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>Heterogeneity</em></strong></p><p>
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<a href="#17" class="mim-tip-reference" title="Reinstein, E., Wang, R. Y., Zhan, L., Rimoin, D. L., Wilcox, W. R. <strong>Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree.</strong> Am. J. Med. Genet. 155A: 742-747, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21594996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21594996</a>] [<a href="https://doi.org/10.1002/ajmg.a.33914" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21594996">Reinstein et al. (2011)</a> studied a 4-generation kindred with EDS VIII and stated that initial linkage analysis indicated that this pedigree was not linked to the previously reported region on chromosome 12p13, thus confirming genetic locus heterogeneity in EDS type VIII. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21594996" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of EDSPD1 in the families studied by <a href="#9" class="mim-tip-reference" title="Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others. <strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong> Am. J. Hum. Genet. 99: 1005-1014, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27745832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27745832</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27745832[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27745832">Kapferer-Seebacher et al. (2016)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27745832" 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="#9" class="mim-tip-reference" title="Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others. <strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong> Am. J. Hum. Genet. 99: 1005-1014, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27745832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27745832</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27745832[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27745832">Kapferer-Seebacher et al. (2016)</a> studied 19 unrelated families with the periodontal type of EDS, including the families previously reported by <a href="#18" class="mim-tip-reference" title="Stewart, R. E., Hollister, D. W., Rimoin, D. L. <strong>A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontosis.</strong> Birth Defects Orig. Art. Ser. XIII(3B): 85-93, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/890102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">890102</a>]" pmid="890102">Stewart et al. (1977)</a>, <a href="#7" class="mim-tip-reference" title="Hartsfield, J. K., Jr., Kousseff, B. G. <strong>Phenotypic overlap of Ehlers-Danlos syndrome types IV and VIII.</strong> Am. J. Med. Genet. 37: 465-470, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2260589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2260589</a>] [<a href="https://doi.org/10.1002/ajmg.1320370408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2260589">Hartsfield and Kousseff (1990)</a>, <a href="#14" class="mim-tip-reference" title="Rahman, N., Dunstan, M., Teare, M. D., Hanks, S., Douglas, J., Coleman, K., Bottomly, W. E., Campbell, M. E., Berglund, B., Nordenskjold, M., Forssell, B., Burrows, N., Lunt, P., Young, I., Williams, N., Bignell, G. R., Futreal, P. A., Pope, F. M. <strong>Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.</strong> Am. J. Hum. Genet. 73: 198-204, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12776252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12776252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12776252[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/10.1086/376416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12776252">Rahman et al. (2003)</a>, Reinstein et al. (<a href="#17" class="mim-tip-reference" title="Reinstein, E., Wang, R. Y., Zhan, L., Rimoin, D. L., Wilcox, W. R. <strong>Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree.</strong> Am. J. Med. Genet. 155A: 742-747, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21594996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21594996</a>] [<a href="https://doi.org/10.1002/ajmg.a.33914" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21594996">2011</a>, <a href="#16" class="mim-tip-reference" " title="Reinstein, E., Pariani, M., Lachman, R. S., Nemec, S., Rimoin, D. L. <strong>Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII.</strong> Am. J. Med. Genet. 158A: 938-941, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22419391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22419391</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22419391[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.35261" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22419391">2012</a>, <a href="#15" class="mim-tip-reference" title="Reinstein, E., DeLozier, C. D., Simon, Z., Bannykh, S., Rimoin, D. L., Curry, C. J. <strong>Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.</strong> Europ. J. Hum. Genet. 21: 233-236, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22739343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22739343</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22739343[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22739343">2013</a>), <a href="#4" class="mim-tip-reference" title="Cikla, U., Sadighi, A., Bauer, A., Baskaya, M. K. <strong>Fatal ruptured blood blister-like aneurysm of middle cerebral artery associated with Ehlers-Danlos syndrome type VIII (periodontitis type).</strong> J. Neurol. Surg. Rep. 75: e210-e213, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25485215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25485215</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25485215[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/10.1055/s-0034-1387185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25485215">Cikla et al. (2014)</a>, and <a href="#6" class="mim-tip-reference" title="George, S. M. C., Vandersteen, A., Nigar, E., Ferguson, D. J. P., Topham, E. J., Pope, F. M. <strong>Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness.</strong> Clin. Exp. Derm. 41: 771-774, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27663155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27663155</a>] [<a href="https://doi.org/10.1111/ced.12911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27663155">George et al. (2016)</a>. Exome sequencing followed by targeted sequencing identified heterozygous variants in the C1R gene on chromosome 12p13 in affected individuals from 15 of the families (see, e.g., <a href="/entry/613785#0001">613785.0001</a>-<a href="/entry/613785#0007">613785.0007</a>), and 2 of the families had mutations in the adjacent C1S gene (<a href="/entry/120580#0003">120580.0003</a> and <a href="/entry/120580#0004">120580.0004</a>; see EDSPD2, <a href="/entry/617174">617174</a>). The mutations segregated with disease in the families and were found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. No pathogenic mutations in C1R or C1S were identified in 71 patients with aggressive periodontitis but no EDS-like features, or in 11 patients clinically diagnosed with vascular EDS. In addition, there were 2 mutation-negative EDSPD families (Reinstein et al. (<a href="#17" class="mim-tip-reference" title="Reinstein, E., Wang, R. Y., Zhan, L., Rimoin, D. L., Wilcox, W. R. <strong>Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree.</strong> Am. J. Med. Genet. 155A: 742-747, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21594996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21594996</a>] [<a href="https://doi.org/10.1002/ajmg.a.33914" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21594996">2011</a>, <a href="#16" class="mim-tip-reference" title="Reinstein, E., Pariani, M., Lachman, R. S., Nemec, S., Rimoin, D. L. <strong>Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII.</strong> Am. J. Med. Genet. 158A: 938-941, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22419391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22419391</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22419391[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.35261" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22419391">2012</a>)); <a href="#9" class="mim-tip-reference" title="Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others. <strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong> Am. J. Hum. Genet. 99: 1005-1014, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27745832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27745832</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27745832[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27745832">Kapferer-Seebacher et al. (2016)</a> noted that the affected individuals in those families exhibited periodontitis and EDS-type connective tissue features, but did not have pretibial hyperpigmentation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=27663155+25485215+2260589+21594996+22419391+890102+22739343+27745832+12776252" 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="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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[<a href="https://doi.org/10.1002/ajmg.1320410305" target="_blank">Full Text</a>]
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Cikla, U., Sadighi, A., Bauer, A., Baskaya, M. K.
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<strong>Fatal ruptured blood blister-like aneurysm of middle cerebral artery associated with Ehlers-Danlos syndrome type VIII (periodontitis type).</strong>
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J. Neurol. Surg. Rep. 75: e210-e213, 2014. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25485215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25485215</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25485215[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25485215" 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/10.1055/s-0034-1387185" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2133.1993.tb00211.x" target="_blank">Full Text</a>]
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<strong>Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness.</strong>
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Clin. Exp. Derm. 41: 771-774, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27663155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27663155</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27663155" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/ced.12911" target="_blank">Full Text</a>]
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<strong>Phenotypic overlap of Ehlers-Danlos syndrome types IV and VIII.</strong>
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Am. J. Med. Genet. 37: 465-470, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2260589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2260589</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2260589" 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.1320370408" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Hoffman1991" class="mim-anchor"></a>
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<div class="">
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Hoffman, G. S., Filie, J. D., Schumacher, H. R., Jr., Ortiz-Bravo, E., Tsokos, M. G., Marini, J. C., Kerr, G. S., Ling, Q., Trentham, D. E.
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<strong>Intractable vasculitis, resorptive osteolysis, and immunity to type I collagen in type VIII Ehlers-Danlos syndrome.</strong>
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Arthritis Rheum. 34: 1466-1475, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1953824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1953824</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1953824" 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/art.1780341119" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Kapferer-Seebacher2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., and 28 others.
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<strong>Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.</strong>
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Am. J. Hum. Genet. 99: 1005-1014, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27745832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27745832</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27745832[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27745832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2016.08.019" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Lapiere1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lapiere, C. M., Nusgens, B. V.
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<strong>Ehlers-Danlos (ED) type VIII skin has a reduced proportion of collagen type III. (Abstract)</strong>
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J. Invest. Derm. 76: 422 only, 1981.
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<a id="Linch1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Linch, D. C., Acton, C. H. C.
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<strong>Ehlers-Danlos syndrome presenting with juvenile destructive periodontitis.</strong>
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Brit. Dent. J. 147: 95-96, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/295230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">295230</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=295230" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.bdj.4804291" target="_blank">Full Text</a>]
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<a id="McKusick1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McKusick, V. A.
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<strong>Heritable Disorders of Connective Tissue. (4th ed.)</strong>
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St. Louis: C. V. Mosby (pub.) 1972. Pp. 358-359. Note: Fig. 6-31.
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<a id="13" class="mim-anchor"></a>
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<a id="Nelson1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nelson, D. L., King, R. A.
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<strong>Ehlers-Danlos syndrome type VIII.</strong>
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J. Am. Acad. Derm. 5: 297-303, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7263975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7263975</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7263975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0190-9622(81)70095-1" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Rahman2003" class="mim-anchor"></a>
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<div class="">
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Rahman, N., Dunstan, M., Teare, M. D., Hanks, S., Douglas, J., Coleman, K., Bottomly, W. E., Campbell, M. E., Berglund, B., Nordenskjold, M., Forssell, B., Burrows, N., Lunt, P., Young, I., Williams, N., Bignell, G. R., Futreal, P. A., Pope, F. M.
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<strong>Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.</strong>
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Am. J. Hum. Genet. 73: 198-204, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12776252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12776252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12776252[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12776252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/376416" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Reinstein2013" class="mim-anchor"></a>
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Reinstein, E., DeLozier, C. D., Simon, Z., Bannykh, S., Rimoin, D. L., Curry, C. J.
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<strong>Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.</strong>
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Europ. J. Hum. Genet. 21: 233-236, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22739343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22739343</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22739343[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22739343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2012.132" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Reinstein2012" class="mim-anchor"></a>
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<div class="">
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Reinstein, E., Pariani, M., Lachman, R. S., Nemec, S., Rimoin, D. L.
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<strong>Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII.</strong>
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Am. J. Med. Genet. 158A: 938-941, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22419391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22419391</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22419391[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22419391" 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.35261" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
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<a id="Reinstein2011" class="mim-anchor"></a>
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<div class="">
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Reinstein, E., Wang, R. Y., Zhan, L., Rimoin, D. L., Wilcox, W. R.
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<strong>Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree.</strong>
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Am. J. Med. Genet. 155A: 742-747, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21594996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21594996</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21594996" 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.33914" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
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<a id="Stewart1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stewart, R. E., Hollister, D. W., Rimoin, D. L.
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<strong>A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontosis.</strong>
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Birth Defects Orig. Art. Ser. XIII(3B): 85-93, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/890102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">890102</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=890102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<div class="">
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<p class="mim-text-font">
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Teare, M. D., Barrett, J. H.
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<strong>Genetic epidemiology 2: genetic linkage studies.</strong>
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Lancet 366: 1036-1044, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16168786/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16168786</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16168786" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/S0140-6736(05)67382-5" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
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<a id="Tsipouras1986" class="mim-anchor"></a>
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<div class="">
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Tsipouras, P., Byers, P. H., Schwartz, R. C., Chu, M. L., Weil, D., Pepe, G., Cassidy, S. B., Ramirez, F.
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<strong>Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen.</strong>
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Hum. Genet. 74: 41-46, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2875936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2875936</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2875936" 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/BF00278783" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/29/2016
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 3/12/2013<br>Victor A. McKusick - updated : 12/13/2005<br>Victor A. McKusick - updated : 6/25/2003
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Victor A. McKusick : 6/4/1986
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carol : 10/17/2023
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alopez : 07/20/2017<br>alopez : 07/20/2017<br>carol : 10/31/2016<br>carol : 10/29/2016<br>carol : 10/29/2016<br>carol : 07/09/2016<br>carol : 3/12/2013<br>terry : 3/12/2013<br>carol : 4/25/2007<br>carol : 3/15/2007<br>terry : 12/13/2005<br>terry : 6/2/2004<br>mgross : 3/17/2004<br>carol : 12/3/2003<br>tkritzer : 7/17/2003<br>tkritzer : 7/11/2003<br>terry : 6/25/2003<br>carol : 4/4/2003<br>tkritzer : 3/4/2003<br>dkim : 12/8/1998<br>dkim : 12/8/1998<br>mimadm : 9/24/1994<br>davew : 8/18/1994<br>terry : 4/28/1994<br>pfoster : 3/30/1994<br>warfield : 3/28/1994<br>carol : 9/24/1993
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<strong>#</strong> 130080
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EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1; EDSPD1
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<em>Alternative titles; symbols</em>
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EHLERS-DANLOS SYNDROME, TYPE VIII; EDS8<br />
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EDS VIII<br />
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EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE<br />
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EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE
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<strong>SNOMEDCT:</strong> 50869007;
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<strong>ORPHA:</strong> 75392;
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<strong>DO:</strong> 0080986;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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12p13.31
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Ehlers-Danlos syndrome, periodontal type, 1
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130080
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Autosomal dominant
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3
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C1R
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613785
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Ehlers-Danlos syndrome periodontal type 1 (EDSPD1) is caused by heterozygous mutation in the C1R gene (613785) on chromosome 12p13.</p>
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<strong>Description</strong>
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<p>Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of connective tissue disorders defined by joint laxity and skin alterations that include hyperextensibility, atrophic scarring, and bruising. Periodontal EDS (EDSPD; previously designated 'EDS VIII') is a specific subtype of EDS with autosomal dominant inheritance, in which the defining feature is an EDS phenotype combined with severe periodontal inflammation. In childhood, periodontal inflammation in EDSPD is characterized by extensive gingivitis in response to mild plaque accumulation. In the teens, early-onset periodontitis leads to inflammatory destruction of dental attachment and premature loss of teeth. Other clinical features include pretibial hyperpigmentation, acrogeria, skin and gum fragility, scarring, generalized and/or distal joint hypermobility, and bruising out of proportion to trauma. There are also reports of life-threatening complications such as arterial or gastrointestinal ruptures (summary by Kapferer-Seebacher et al., 2016). </p><p><strong><em>Genetic Heterogeneity of Ehlers-Danlos Syndrome, Periodontal Type</em></strong></p><p>
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Ehlers-Danlos syndrome periodontal type 2 (EDSPD2; 617174) is caused by mutation in the C1S gene (120580) on chromosome 12p13.</p>
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<strong>Nomenclature</strong>
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<p>Beighton et al. (1998) reported on a revised nosology of the Ehlers-Danlos syndromes, designated the Villefranche classification. Major and minor diagnostic criteria were defined for each type and complemented whenever possible with laboratory findings. Six main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and II), hypermobility type (EDS III), vascular type (EDS IV), kyphoscoliosis type (EDS VI), arthrochalasia type (EDS VIIA and VIIB), and dermatosparaxis type (EDS VIIC). Six other forms were listed, one of which was the periodontitis type (EDS VIII). </p>
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<strong>Clinical Features</strong>
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<p>McKusick (1972) reported a family in which affected members exhibited skin lesions resembling necrobiosis lipoidica diabeticorum in association with periodontal disease leading to early loss of teeth. The skin lesions consisted of symmetrical patches on the front of the shins, about 5 inches long, covered by parchment skin and discolored by blood pigments. The appearance resembled that in the Ehlers-Danlos syndrome. The knees showed small 'cigarette-paper scars.' Loose-jointedness and general bruisability and cutaneous fragility were not present. Furthermore, although the histology of the lesions of the skin suggested necrobiosis lipoidica diabeticorum, no evidence of diabetes was uncovered in any member of the family. In addition to the proband, her father, several paternal uncles and aunts, and a cousin were affected.</p><p>Stewart et al. (1977) described a case of this syndrome. The father and a half brother were also affected. A grandparent may have been affected. The proband had some marfanoid manifestations: arachnodactyly, tall stature, and 'skinniness.' Fragile skin, loose joints and cigarette-paper scars were present. Dental problems included extensive periodontal destruction, i.e., alveolar bone loss around the teeth resulting in premature loss of teeth, as well as propensity for calculus formation. </p><p>Linch and Acton (1979) reported on a 10-year-old black girl with this disorder in whom alveolar bone loss had led initially to the diagnosis of juvenile destructive periodontitis. Nelson and King (1981) reported the disorder in 5 persons in 3 generations. In this family, a 19-year-old woman had periodontal disease beginning at age 13 years. Her sister, aged 18 years, had other features of EDS but did not have periodontitis. Their grandmother had progressive periodontitis with loosening and subsequent loss of permanent teeth, becoming edentulous by age 20 years. </p><p>In their patient with EDS type VIII and severe periodontitis at age 12 years, Lapiere and Nusgens (1981) found a possible defect in type III collagen, which they suggested showed impaired secretion. Tsipouras et al. (1986) described a family with EDS type IV (130050) with a defect in secretion of type III collagen; the proposita showed alveolar bone loss at age 21 years. Byers et al. (1983) suggested that periodontal disease may be a characteristic of EDS type IV also and that only biochemical studies can distinguish types IV and VIII. Biesecker et al. (1991) described a family in which a father and son had EDS type VIII. Some of the clinical features impressed them as suggesting premature aging. Indeed, the father had been thought to have Werner syndrome (277700). He had become edentulous at age 16 years because of severe periodontal disease. Multiple striae on the abdominal wall were described in the father and striae on the thighs in the 17-year-old son. The son's teeth were loose and the gingivae erythematous. </p><p>Hoffman et al. (1991) described a patient with EDS type VIII in whom immunity to type I collagen appeared to be responsible for unusual features: intractable vasculitis and resorptive osteolysis. The female patient had a dislocated right hip at birth. By age 10 years, her permanent teeth underwent premature loosening, requiring dental plates. Within several months of the onset of menses at age 13 years, she developed generalized persistent urticaria, which on biopsy was shown to represent small-vessel vasculitis. Within 6 months, symmetric polyarthralgia occurred, affecting small and large joints. The cutaneous manifestations progressed; indeed, they never completely resolved. Erosive arthritis and osteolysis occurred in the hands, toes, and temporomandibular joints. Loss of skin elasticity created prominent furrows, wrinkling, and laxity. Over the next 10 years she developed progressive aortic and mitral regurgitation and possible mitral stenosis. No evidence of connective tissue disorder was found in the family except that the patient's mother had undergone mitral valve replacement for rheumatic heart disease. Collagen analyses identified morphologic and physical abnormalities of type I collagen. The patient's T lymphocytes could be propagated in vitro with type I collagen and produced a 60-kD lymphokine that bound this protein. Dyne et al. (1993) classified Ehlers-Danlos syndrome in a 9-year-old girl as type VIII because of the presence of periodontitis and a family history of premature loss of permanent teeth. No alterations in the synthesis or secretion of types I and II collagen or in the serum levels of type III procollagen amino-terminal propeptide were found, and morphologic studies revealed only nonspecific changes. In an erratum, Dyne et al. (1993) pointed out that the summary should have read as follows: 'No alterations in the synthesis or secretion of types I and III collagen...' </p><p>Rahman et al. (2003) reported a large Swedish pedigree in which 17 individuals over 5 generations had EDS VIII. The predominant dental features of the affected individuals were premature periodontal inflammation and gingival recession, usually detectable in childhood, with rapid progression throughout adolescence and early adulthood. Complete loss of adult dentition typically occurred by the end of the third decade in individuals born before 1950. Dental x-rays of selected family members showed progressive loss of periodontal supporting tissue and loss of bony tissue. Affected individuals showed typical features of EDS, with generalized joint laxity, thin atrophic skin (especially over the dorsum of the hands and feet), and circumscribed hemosiderotic pretibial plaques, which could be either thickened or atrophic. Affected individuals were tall, with arm spans greater than their heights. </p><p>Reinstein et al. (2011) studied a 4-generation kindred with EDS VIII in which 12 affected individuals had joint hypermobility, normal scar formation but eventual scar atrophy, and severe periodontal disease with dental caries and infections. Age at onset and severity of symptoms were variable among affected individuals, confirming intrafamilial variability in this subtype of EDS. Four more family members demonstrated clinical findings suggestive of a connective tissue disorder, such as umbilical hernia, soft skin texture, and various degrees of joint hypermobility; a clear status could not be assigned due to their young age and paucity of other symptoms, primarily dental. </p><p>Reinstein et al. (2012) described a woman, her mother, and her maternal grandmother who were affected with EDS VIII. All 3 became edentulous, at ages 20, 35, and 37 years, respectively, and all had chronic pain involving the back, knees, hips, and finger joints. In addition, the proband and her mother had osteoporosis by bone density scan; the authors noted that they also exhibited the long nose with narrow root and prominent tip that had previously been observed in patients with EDS and periodontal involvement. Considerable childhood joint hypermobility was reported by the patients, but progressive stiffness made it less noticeable at the time of examination. The proband also reported easy bruising but normal wound healing and normal scar formation. Radiologic evaluation of the proband at age 37 showed moderate scoliosis, ossicular findings at the right hip suggestive of gluteal muscle tendinopathy, changes at the right shoulder also suggesting ligamentous disease, and marked osteoarthritis of the right knee. Reinstein et al. (2012) concluded that EDS VIII can be associated with early-onset degenerative joint disease and reduced bone density. </p><p>Reinstein et al. (2013) reported a 4-generation family with EDS VIII. The proband was a 7-year-old girl who had gingival disease first noted at age 3 years, as well as easy shin bruising and occasional nosebleeds. Examination at age 5 showed minimal bruising on the shins, mild joint hypermobility, and normal skin consistency with normal scarring. Dental examination revealed severe generalized gingival edema and erythema associated with abundant bacterial biofilm accumulation, and gingival recession was present on some primary and permanent teeth. The gingival tissues were of poor quality with minimally attached and keratinized gingivae, and visible capillaries confirmed its thin nature. Her father had discolored pretibial scarring from shin bruising in adolescence and a history of receding gums and periodontal disease with loss of 6 permanent teeth by age 39. He had no history of dislocations or other joint symptoms, and examination revealed no joint hypermobility, with normal skin and scarring. Electron microscopy of pretibial skin showed decreased collagen content, abnormal variation in collagen fibril diameter, and some abnormally shaped fibers suggesting collagen misassembly. The proband's deceased paternal grandfather was similarly affected and had full dentures by age 42 years; he had severe shin bruising but no joint pain, laxity, or dislocations. The proband's 86-year-old great-grandfather began losing teeth in his early teens; he never had shin bruising or joint problems, and had normal scarring. Reinstein et al. (2013) concluded that EDS VIII is clinically variable and that even cases lacking the associated skin and joint manifestations may show microscopic evidence of collagen disorganization. They reviewed previous reports and suggested that the diagnosis should be considered in patients with dominant familial forms of early-onset periodontal disease and dental loss even when there is little other clinical basis for considering a connective tissue disorder. </p><p>Cikla et al. (2014) described a 42-year-old woman with a diagnosis of EDS VIII who died after surgery for an aneurysm of the middle cerebral artery. She was initially evaluated at age 13 years because of frequent bruising and fragility of the anterior tibial skin as well as gingival retraction and alveolar absorption. She had lost all teeth spontaneously or from extraction by age 19 years due to periodontitis. Examination at age 30 showed soft but not hyperextensible skin, dramatic pigmentary scarring over the tibiae, and mild joint hyperextensibility. Because of phenotypic overlap with EDS IV (130050), biochemical and genetic analysis of skin fibroblast collagens was performed, which demonstrated normal type III collagen (COL3A1; 120180) sequence and expression. At age 42 years, she presented with subarachnoid hemorrhage due to a blood blister-like aneurysm of the left middle cerebral artery. A coiling procedure was unsuccessful and she had continued bleeding from the aneurysm; her neurologic condition remained poor after a second surgical procedure and care was withdrawn at the family's request. Cikla et al. (2014) concluded that patients with EDS VIII may be at risk for catastrophic vascular events. </p><p>George et al. (2016) reported 2 unrelated patients with EDS VIII who also exhibited laryngeal pathology resulting in chronic hoarseness. The first was a 24-year-old Bangladeshi man with early-onset periodontitis in whom examination revealed widespread cutaneous atrophy and hemosiderosis of the shins and ankles, an easily visible venous pattern over the upper arms, thighs, and chest, and acrogeric changes of the face, hands, and feet. His hoarseness resulted from bilateral vocal cord sulci due to laryngeal mucosal hypertrophy. The second patient was a 33-year-old white woman with early-onset periodontal disease who also displayed an acrogeric facial appearance and had a hoarse voice due to cricoarytenoid fibrosis. Her father had early-onset periodontal disease, and she had 2-year-old twin boys with similar acrogeric facial features and lax skin, suggesting that they were likely to be affected. In both probands, collagen I and III protein analyses were normal, and COL3A1 sequencing was normal. </p><p><strong><em>Reviews</em></strong></p><p>
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Kapferer-Seebacher et al. (2016) tabulated the clinical features of 93 EDSPD patients with mutations in the C1R or C1S genes (77 and 16 patients, respectively) and observed that the most prevalent features included early-onset periodontitis, gingival recessions, and thin gingiva and/or absence of attached gingiva. Easy bruising was present in most patients, as were pretibial hyperpigmentation, skin fragility, and mildly elastic skin. About half of patients exhibited atrophic scars or wide scarring and/or prominent vasculature. Joint hypermobility was not a consistent finding, and if present was mild and often limited to small joints. Other variable features included recurrent infections, joint pain, flat feet, marfanoid facial features, scoliosis, osteoarthritis, and hernias. A minority of patients had joint dislocations; aneurysms occurred in 4 families, and autoimmune disorders occurred in 1 family. Cancer appeared to be more prevalent in patients with C1S mutations. </p>
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<strong>Mapping</strong>
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<p>Rahman et al. (2003) performed a genomewide search in 72 individuals from 5 generations of a large Swedish pedigree with EDS VIII and established linkage to a 7-cM interval on chromosome 12p13, generating a maximum multipoint lod score of 5.17. Analysis of 4 other pedigrees with this disorder showed 2 consistent with linkage to 12p13 and 2 in which linkage could be excluded, indicating that EDS type VIII is a genetically heterogeneous disorder. Rahman et al. (2003) noted that chromosome 12p13 had not previously been implicated in either EDS or periodontal disease and was not known to contain any collagen genes or collagen-processing enzymes. Mutation screening of the microfibril-associated glycoprotein-2 gene (601103), within the minimum interval, did not reveal any likely pathogenic mutations. </p><p>Teare and Barrett (2005) used EDS VIII as an example to illustrate parametric linkage analysis of pedigrees. </p><p><strong><em>Heterogeneity</em></strong></p><p>
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Reinstein et al. (2011) studied a 4-generation kindred with EDS VIII and stated that initial linkage analysis indicated that this pedigree was not linked to the previously reported region on chromosome 12p13, thus confirming genetic locus heterogeneity in EDS type VIII. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of EDSPD1 in the families studied by Kapferer-Seebacher et al. (2016) was consistent with autosomal dominant inheritance. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>Kapferer-Seebacher et al. (2016) studied 19 unrelated families with the periodontal type of EDS, including the families previously reported by Stewart et al. (1977), Hartsfield and Kousseff (1990), Rahman et al. (2003), Reinstein et al. (2011, 2012, 2013), Cikla et al. (2014), and George et al. (2016). Exome sequencing followed by targeted sequencing identified heterozygous variants in the C1R gene on chromosome 12p13 in affected individuals from 15 of the families (see, e.g., 613785.0001-613785.0007), and 2 of the families had mutations in the adjacent C1S gene (120580.0003 and 120580.0004; see EDSPD2, 617174). The mutations segregated with disease in the families and were found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. No pathogenic mutations in C1R or C1S were identified in 71 patients with aggressive periodontitis but no EDS-like features, or in 11 patients clinically diagnosed with vascular EDS. In addition, there were 2 mutation-negative EDSPD families (Reinstein et al. (2011, 2012)); Kapferer-Seebacher et al. (2016) noted that the affected individuals in those families exhibited periodontitis and EDS-type connective tissue features, but did not have pretibial hyperpigmentation. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<ol>
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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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<p class="mim-text-font">
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Biesecker, L. G., Erickson, R. P., Glover, T. W., Bonadio, J.
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<strong>Molecular and cytologic studies of Ehlers-Danlos syndrome type VIII.</strong>
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Am. J. Med. Genet. 41: 284-288, 1991.
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[PubMed: 1789281]
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[Full Text: https://doi.org/10.1002/ajmg.1320410305]
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<p class="mim-text-font">
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Byers, P. H., Holbrook, K. A., Barsh, G. S.
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<strong>Ehlers-Danlos syndrome. In: Emery, A. E. H.; Rimoin, D. L.: Principles and Practice of Medical Genetics.</strong>
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Edinburgh: Churchill Livingstone (pub.) 1983. Pp. 836-850.
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<strong>Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.</strong>
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<strong>Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.</strong>
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<strong>A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontosis.</strong>
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<strong>Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen.</strong>
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