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Entry
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- #177850 - PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
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- OMIM
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<p>
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<span class="h4">#177850</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/177850"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE" 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=3728&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/NBK1113/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/6056" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=177850[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=758" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<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:2738" 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/177850" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:2738" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div style="display: table-cell;">Cell Lines</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:177850" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 758<br />
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<strong>DO:</strong> 2738<br />
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">ICD+</a>
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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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177850
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</span>
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</span>
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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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PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
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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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<a id="includedTitles" 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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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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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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<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/16/223?start=-3&limit=10&highlight=223">
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16p13.11
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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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Pseudoxanthoma elasticum, forme fruste
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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/177850"> 177850 </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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</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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ABCC6
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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/603234"> 603234 </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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<div class="btn-group ">
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<a href="/clinicalSynopsis/177850" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/177850" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/177850" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<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 />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
|
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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> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Angioid streaks of the retina <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002982&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002982</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001102" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001102</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001102" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001102</a>]</span><br /> -
|
|
Macular degeneration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422338006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422338006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267718000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267718000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/362.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">362.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242383&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242383</a>, <a href="https://bioportal.bioontology.org/search?q=C0024437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024437</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000608" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000608</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000608" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000608</a>]</span><br /> -
|
|
Decreased visual acuity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13164000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span><br /> -
|
|
Myopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57190000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57190000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027092&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027092</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span><br /> -
|
|
Blue sclerae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204164000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0542514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0542514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000592" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000592</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000592" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000592</a>]</span><br /> -
|
|
Retinal hemorrhage <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28998008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28998008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.60</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/362.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">362.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035317&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035317</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000573" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000573</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000573" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000573</a>]</span><br /> -
|
|
Peau d'orange retinal changes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867453</a>]</span><br /> -
|
|
Salmon spots <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867454&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867454</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">
|
|
|
|
- High arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=c606b0119d4a894ebd5ee0242c136e29" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Palate,High-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=c606b0119d4a894ebd5ee0242c136e29" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Yellowish lip mucosal nodules <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867455&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867455</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
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|
|
</div>
|
|
|
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mitral valve prolapse <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409712001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409712001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8074002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8074002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026267&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026267</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001634</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001634</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Angina <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/194828000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">194828000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/225566008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">225566008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I20.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I20.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/413" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">413</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2024883&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2024883</a>, <a href="https://bioportal.bioontology.org/search?q=C0002962&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002962</a>, <a href="https://bioportal.bioontology.org/search?q=C2926611&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2926611</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001681" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001681</a>]</span><br /> -
|
|
Claudication <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63491006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63491006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16973004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16973004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I73.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I73.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0021775&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0021775</a>, <a href="https://bioportal.bioontology.org/search?q=C1456822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1456822</a>, <a href="https://bioportal.bioontology.org/search?q=C0311395&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0311395</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031955" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031955</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004417</a>]</span><br /> -
|
|
Premature occlusive vascular disease <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867457&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867457</a>]</span><br /> -
|
|
Arteriosclerosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/107671003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">107671003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72092001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72092001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28960008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28960008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I70</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003850&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003850</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002634</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002634</a>]</span><br /> -
|
|
Medial calcification of medium-sized and major arteries <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867458&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867458</a>]</span><br /> -
|
|
Diminished or absent peripheral pulses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867459&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867459</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pectus deformities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860493&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860493</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000766" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000766</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000766" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000766</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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<div>
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|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Gastrointestinal hemorrhage <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74474003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74474003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K92.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K92.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/578" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">578</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/578.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">578.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017181&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017181</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002239" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002239</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002239" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002239</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Calcification of falx cerebri <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1397139&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1397139</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005462" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005462</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005462" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005462</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Kyphosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71311003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71311003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414564002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414564002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413428007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413428007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.41</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/737.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">737.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265673</a>, <a href="https://bioportal.bioontology.org/search?q=C0022821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022821</a>, <a href="https://bioportal.bioontology.org/search?q=C2115817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2115817</a>, <a href="https://bioportal.bioontology.org/search?q=C0022822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span><br /> -
|
|
Scoliosis <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 />
|
|
|
|
</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">
|
|
|
|
- Small, yellow papules (mouth, neck, axilla, elbows, groin, periumbilical region) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867456</a>]</span><br /> -
|
|
Peau d'orange <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87386002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87386002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0425791&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0425791</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025533" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025533</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025533" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025533</a>]</span><br /> -
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Elastosis perforans serpiginosa <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49428008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49428008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L87.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L87.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221271&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221271</a>]</span><br />
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- Cerebral hemorrhage <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274100004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274100004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">431</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2937358&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2937358</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001342" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001342</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001342" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001342</a>]</span><br />
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- Allelic to autosomal recessive PXE (<a href="/entry/264800">264800</a>)<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutations in the ATP-binding cassette, subfamily C, member 6 gene (ABCC6, <a href="/entry/603234#0005">603234.0005</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because individuals heterozygous for mutation in the ABCC6 gene (<a href="/entry/603234">603234</a>) in the overwhelming majority of cases express limited manifestations of the pseudoxanthoma elasticum phenotype. In rare cases heterozygosity for mutations in the ABCC6 gene appears to result in expression of the full PXE phenotype in 2 generations (see <a href="/entry/603234#0018">603234.0018</a>).</p><p>A digenic form of PXE resulting from an ABCC6 mutation (<a href="/entry/603234#0001">603234.0001</a>) and a GGCX mutation (<a href="/entry/137167#0012">137167.0012</a>) has been reported.</p><p>For a phenotypic description of PXE, see <a href="/entry/264800">264800</a>.</p>
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<p><a href="#4" class="mim-tip-reference" title="Hausser, I., Anton-Lamprecht, I. <strong>Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk.</strong> Hum. Genet. 87: 693-700, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1937472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1937472</a>] [<a href="https://doi.org/10.1007/BF00201728" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1937472">Hausser and Anton-Lamprecht (1991)</a> described a family in which the mother and grandmother died because of major vascular complications of PXE. Three adolescent sibs showed no clinical manifestations of PXE. However, ultrastructural investigation of overtly normal skin in sites of predilection gave a positive diagnosis. Dermal connective tissue showed a specific aberrant pattern; elastin (<a href="/entry/130160">130160</a>) of elastic fibers regularly contained small foci of calcification resembling those in perilesional skin of the mother and other PXE patients; in collagen bundles adjacent to altered elastic fibers, collagen fibrils occurred with thickened diameters and flower-like contours. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1937472" 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="van Soest, S., Swart, J., Tijmes, N., Sandkuijl, L. A., Rommers, J., Bergen, A. A. B. <strong>A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1.</strong> Genome Res. 7: 830-834, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9267806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9267806</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9267806[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/10.1101/gr.7.8.830" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9267806">Van Soest et al. (1997)</a> reported a family from a genetically isolated population in the Netherlands with autosomal recessive PXE in which vascular symptoms appeared in 40 to 50% of the heterozygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9267806" 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="#1" class="mim-tip-reference" title="Bacchelli, B., Quaglino, D., Gheduzzi, D., Taparelli, F., Boraldi, F., F., Trolli, B., Le Saux, O., Boyd, C. D., Ronchetti, I. P. <strong>Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE).</strong> Mod. Path. 12: 1112-1123, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10619263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10619263</a>]" pmid="10619263">Bacchelli et al. (1999)</a> and <a href="#13" class="mim-tip-reference" title="Sherer, D. W., Bercovitch, L., Lebwohl, M. <strong>Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring.</strong> J. Am. Acad. Derm. 44: 534-537, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11209132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11209132</a>] [<a href="https://doi.org/10.1067/mjd.2001.112401" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11209132">Sherer et al. (2001)</a> presented evidence that heterozygous mutant family members of affected individuals present limited manifestations of PXE. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10619263+11209132" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bergen, A. A. B., Plomp, A. S., Schuurman, E. J., Terry, S., Breuning, M., Dauwerse, H., Swart, J., Kool, M., van Soest, S., Baas, F., ten Brink, J. B., de Jong, P. T. V. M. <strong>Mutations in ABCC6 cause pseudoxanthoma elasticum.</strong> Nature Genet. 25: 228-231, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835643</a>] [<a href="https://doi.org/10.1038/76109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10835643">Bergen et al. (2000)</a>, <a href="#6" class="mim-tip-reference" title="Le Saux, O., Urban, Z., Tschuch, C., Csiszar, K., Bacchelli, B., Quaglino, D., Pasquali-Ronchetti, I., Pope, F. M., Richards, A., Terry, S., Bercovitch, L., de Paepe, A., Boyd, C. D. <strong>Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.</strong> Nature Genet. 25: 223-227, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835642</a>] [<a href="https://doi.org/10.1038/76102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10835642">Le Saux et al. (2000)</a>, and <a href="#12" class="mim-tip-reference" title="Ringpfeil, F., Lebwohl, M.G., Christiano, A. M., Uitto, J. <strong>Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.</strong> Proc. Nat. Acad. Sci. 97: 6001-6006, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10811882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10811882</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10811882[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/10.1073/pnas.100041297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10811882">Ringpfeil et al. (2000)</a> identified missense, nonsense, and splice site mutations, as well as deletions and insertions, in the ABCC6 gene (<a href="/entry/603234">603234</a>) accounting for pseudoxanthoma elasticum (<a href="/entry/264800">264800</a>). Mutations appeared to represent autosomal recessive (<a href="#6" class="mim-tip-reference" title="Le Saux, O., Urban, Z., Tschuch, C., Csiszar, K., Bacchelli, B., Quaglino, D., Pasquali-Ronchetti, I., Pope, F. M., Richards, A., Terry, S., Bercovitch, L., de Paepe, A., Boyd, C. D. <strong>Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.</strong> Nature Genet. 25: 223-227, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835642</a>] [<a href="https://doi.org/10.1038/76102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10835642">Le Saux et al., 2000</a>) and autosomal dominant (<a href="#3" class="mim-tip-reference" title="Bergen, A. A. B., Plomp, A. S., Schuurman, E. J., Terry, S., Breuning, M., Dauwerse, H., Swart, J., Kool, M., van Soest, S., Baas, F., ten Brink, J. B., de Jong, P. T. V. M. <strong>Mutations in ABCC6 cause pseudoxanthoma elasticum.</strong> Nature Genet. 25: 228-231, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835643</a>] [<a href="https://doi.org/10.1038/76109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10835643">Bergen et al., 2000</a>) modes of inheritance, and sporadic cases. The R114X mutation (<a href="/entry/603234#0001">603234.0001</a>) was found in families segregating autosomal dominant PXE and in families segregating autosomal recessive PXE. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10811882+10835642+10835643" 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="Plomp, A. S., Hu, X., de Jong, P. T. V. M., Bergen, A. A. B. <strong>Does autosomal dominant pseudoxanthoma elasticum exist?</strong> Am. J. Med. Genet. 126A: 403-412, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15098239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15098239</a>] [<a href="https://doi.org/10.1002/ajmg.a.20632" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15098239">Plomp et al. (2004)</a> described a family in which criteria for 'definite' PXE were met in 2 generations and in which an arg1459-to-cys substitution (R1459C) in the ABCC protein was detected on 1 allele only (<a href="/entry/603234#0018">603234.0018</a>). They stated that the R1459C mutation might be one that could cause PXE in the heterozygous state. In their review of families with putative autosomal dominant PXE, including this family and 2 others examined by them, the authors noted that they did not find a single family with definite PXE in 3 or more generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15098239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bergen, A. A. B. <strong>Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth. (Commentary)</strong> J. Invest. Derm. 126: 704-705, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16541094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16541094</a>] [<a href="https://doi.org/10.1038/sj.jid.5700129" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16541094">Bergen (2006)</a> stated that the family with the apparently heterozygous R1459C mutation studied by <a href="#11" class="mim-tip-reference" title="Plomp, A. S., Hu, X., de Jong, P. T. V. M., Bergen, A. A. B. <strong>Does autosomal dominant pseudoxanthoma elasticum exist?</strong> Am. J. Med. Genet. 126A: 403-412, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15098239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15098239</a>] [<a href="https://doi.org/10.1002/ajmg.a.20632" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15098239">Plomp et al. (2004)</a> remained 'an interesting puzzle and is perhaps the always existing 'exception to the rule'.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15098239+16541094" 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="Miksch, S., Lumsden, A., Guenther, U. P., Foernzler, D., Christen-Zach, S., Daugherty, C., Ramesar, R. S., Lebwohl, M., Hohl, D., Neldner, K. H., Lindpaintner, K., Richards, R. I., Struk, B. <strong>Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.</strong> Hum. Mutat. 26: 235-248, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16086317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16086317</a>] [<a href="https://doi.org/10.1002/humu.20206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16086317">Miksch et al. (2005)</a> performed a mutation screen in ABCC6 using haplotype analysis in conjunction with direct sequencing to achieve a mutation detection rate of 97%. The resultant data indicated that the inheritance of PXE is exclusively autosomal recessive, and that all mutations in the ABCC6 gene associated with PXE appear to lead to loss of function of the protein. The authors suggested that clinical carriers of the trait with a haplotypic heterozygous allelic status for one of the familial disease alleles may express a forme fruste of the disorder that can be characterized, in part, by category II diagnostic criteria (<a href="#9" class="mim-tip-reference" title="Neldner, K., Struk, B. <strong>Pseudoxanthoma elasticum.In: Royce, P. M.; Steinmann, B. (eds.) : Connective tissue and its heritable disorders: molecular, genetic, and medical aspects. (2nd ed.)</strong> New York: Wiley-Liss (2nd ed.) 2002. Pp. 561-583."None>Neldner and Struk, 2002</a>) according to the consensus conference (<a href="#5" class="mim-tip-reference" title="Lebwohl, M., Neldner, K., Pope, F. M., De Paepe, A., Christiano, A. M., Boyd, C. D., Uitto, J., McKusick, V. A. <strong>Classification of pseudoxanthoma elasticum: report of a consensus conference.</strong> J. Am. Acad. Derm. 30: 103-107, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8277008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8277008</a>] [<a href="https://doi.org/10.1016/s0190-9622(08)81894-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8277008">Lebwohl et al., 1994</a>). Such carriers may have positive skin biopsy of nonlesional skin and/or show mottled hyperpigmentation or angioid streaks, but will not exhibit the long-term manifestations and complications of the disorder that are the consequences of the loss of function of both ABCC6 alleles. <a href="#8" class="mim-tip-reference" title="Miksch, S., Lumsden, A., Guenther, U. P., Foernzler, D., Christen-Zach, S., Daugherty, C., Ramesar, R. S., Lebwohl, M., Hohl, D., Neldner, K. H., Lindpaintner, K., Richards, R. I., Struk, B. <strong>Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.</strong> Hum. Mutat. 26: 235-248, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16086317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16086317</a>] [<a href="https://doi.org/10.1002/humu.20206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16086317">Miksch et al. (2005)</a> stated that in the families examined by them, none of the heterozygotes for a large deletion showed any apparent clinical signs of PXE according to category I diagnostic criteria. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8277008+16086317" 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>PXE, Forme Fruste, Digenic, ABCC6/GGCX</em></strong></p><p>
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In a woman and her sister with biopsy-confirmed PXE, <a href="#7" class="mim-tip-reference" title="Li, Q., Grange, D. K., Armstrong, N. L., Whelan, A. J., Hurley, M. Y., Rishavy, M. A., Hallgren, K. W., Berkner, K. L., Schurgers, L. J., Jiang, Q., Uitto, J. <strong>Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.</strong> J. Invest. Derm. 129: 553-563, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18800149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18800149</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18800149[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/jid.2008.271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18800149">Li et al. (2009)</a> identified compound heterozygosity for a mutation in the ABCC6 gene (R1141X; <a href="/entry/603234#0001">603234.0001</a>) mutation and a mutation in the GGCX gene (V255M; <a href="/entry/137167#0012">137167.0012</a>). Neither had evidence of a coagulopathy, but skin biopsies showed undercarboxylated matrix gla proteins (MGP; <a href="/entry/154870">154870</a>) in the areas of abnormal mineralization. Since R1141X in the heterozygous state is usually not associated with clinical features, the findings suggested that women had digenic inheritance of PXE. In contrast, 2 other family members who were compound heterozygous for R1141X and another mutation in the GGCX gene (S300F; <a href="/entry/137167#0013">137167.0013</a>) had no signs of either disorder on clinical exam but refused to participate in further clinical testing. Plasma levels of total undercarboxylated MGP in the 2 clinically unaffected individuals were at the lower end of normal. Although the reasons for the lack of clinical findings in these latter individuals remained unclear, <a href="#7" class="mim-tip-reference" title="Li, Q., Grange, D. K., Armstrong, N. L., Whelan, A. J., Hurley, M. Y., Rishavy, M. A., Hallgren, K. W., Berkner, K. L., Schurgers, L. J., Jiang, Q., Uitto, J. <strong>Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.</strong> J. Invest. Derm. 129: 553-563, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18800149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18800149</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18800149[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/jid.2008.271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18800149">Li et al. (2009)</a> concluded that undercarboxylation of MGP plays a critical role in aberrant mineralization of tissues in PXE. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18800149" 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="#16" class="mim-tip-reference" title="Wise, D. <strong>Hereditary disorders of connective tissues.In: Gottron, H.; Schnyder, U. : Vererbung von Hautkrankheiten.</strong> Berlin: Springer-Verlag (pub.) 1966. P. 471."None>Wise (1966)</a> stated that about a quarter of all families with 2 or more cases of PXE have cases in successive generations. He noted that no quantitative or qualitative difference between the cases could be discerned in families with successive generations affected (autosomal dominant) and families with unaffected but consanguineous parents (autosomal recessive).</p><p>In a series of 100 personally studied cases, <a href="#10" class="mim-tip-reference" title="Neldner, K. H. <strong>Pseudoxanthoma elasticum.</strong> Clin. Derm. 6(1): 83-92, 1988."None>Neldner (1988)</a> found no instance of 3-generation involvement. Indeed, only 3 patients of the 100 were considered to have autosomal dominant inheritance: a mother-daughter pair and a third patient whose father had biopsy-proven PXE but was not a member of the study. In addition, there were 3 families with 3 affected sibs each and 4 families with 2 affected sibs. The 100 patients came from 88 separate kindreds. Three of the patients from single-patient sibships had cousins with PXE.</p><p><a href="#14" class="mim-tip-reference" title="Struk, B., Neldner, K. H., Rao, V. S., St Jean, P., Lindpaintner, K. <strong>Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.</strong> Hum. Molec. Genet. 6: 1823-1828, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9302259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9302259</a>] [<a href="https://doi.org/10.1093/hmg/6.11.1823" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9302259">Struk et al. (1997)</a> stated that an autosomal dominant pattern of transmission of PXE occurs in approximately 10% of affected families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9302259" 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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Bacchelli, B., Quaglino, D., Gheduzzi, D., Taparelli, F., Boraldi, F., F., Trolli, B., Le Saux, O., Boyd, C. D., Ronchetti, I. P.
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<strong>Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10619263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10619263</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10619263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bergen, A. A. B.
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<strong>Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth. (Commentary)</strong>
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J. Invest. Derm. 126: 704-705, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16541094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16541094</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16541094" 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.jid.5700129" target="_blank">Full Text</a>]
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Bergen, A. A. B., Plomp, A. S., Schuurman, E. J., Terry, S., Breuning, M., Dauwerse, H., Swart, J., Kool, M., van Soest, S., Baas, F., ten Brink, J. B., de Jong, P. T. V. M.
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<strong>Mutations in ABCC6 cause pseudoxanthoma elasticum.</strong>
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Nature Genet. 25: 228-231, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835643</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10835643" 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/10.1038/76109" target="_blank">Full Text</a>]
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Hausser, I., Anton-Lamprecht, I.
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<strong>Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk.</strong>
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Hum. Genet. 87: 693-700, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1937472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1937472</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1937472" 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/BF00201728" target="_blank">Full Text</a>]
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Lebwohl, M., Neldner, K., Pope, F. M., De Paepe, A., Christiano, A. M., Boyd, C. D., Uitto, J., McKusick, V. A.
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<strong>Classification of pseudoxanthoma elasticum: report of a consensus conference.</strong>
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J. Am. Acad. Derm. 30: 103-107, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8277008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8277008</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8277008" 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(08)81894-4" target="_blank">Full Text</a>]
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Le Saux, O., Urban, Z., Tschuch, C., Csiszar, K., Bacchelli, B., Quaglino, D., Pasquali-Ronchetti, I., Pope, F. M., Richards, A., Terry, S., Bercovitch, L., de Paepe, A., Boyd, C. D.
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<strong>Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.</strong>
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Nature Genet. 25: 223-227, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835642</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10835642" 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/10.1038/76102" target="_blank">Full Text</a>]
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Li, Q., Grange, D. K., Armstrong, N. L., Whelan, A. J., Hurley, M. Y., Rishavy, M. A., Hallgren, K. W., Berkner, K. L., Schurgers, L. J., Jiang, Q., Uitto, J.
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<strong>Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.</strong>
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J. Invest. Derm. 129: 553-563, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18800149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18800149</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18800149[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=18800149" 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/jid.2008.271" target="_blank">Full Text</a>]
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Miksch, S., Lumsden, A., Guenther, U. P., Foernzler, D., Christen-Zach, S., Daugherty, C., Ramesar, R. S., Lebwohl, M., Hohl, D., Neldner, K. H., Lindpaintner, K., Richards, R. I., Struk, B.
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<strong>Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.</strong>
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Hum. Mutat. 26: 235-248, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16086317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16086317</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16086317" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20206" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Neldner2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Neldner, K., Struk, B.
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<strong>Pseudoxanthoma elasticum.In: Royce, P. M.; Steinmann, B. (eds.) : Connective tissue and its heritable disorders: molecular, genetic, and medical aspects. (2nd ed.)</strong>
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New York: Wiley-Liss (2nd ed.) 2002. Pp. 561-583.
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<a id="10" class="mim-anchor"></a>
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<a id="Neldner1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Neldner, K. H.
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<strong>Pseudoxanthoma elasticum.</strong>
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Clin. Derm. 6(1): 83-92, 1988.
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<a id="11" class="mim-anchor"></a>
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<a id="Plomp2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Plomp, A. S., Hu, X., de Jong, P. T. V. M., Bergen, A. A. B.
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<strong>Does autosomal dominant pseudoxanthoma elasticum exist?</strong>
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Am. J. Med. Genet. 126A: 403-412, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15098239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15098239</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15098239" 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.20632" target="_blank">Full Text</a>]
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</p>
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<a id="12" class="mim-anchor"></a>
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<a id="Ringpfeil2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ringpfeil, F., Lebwohl, M.G., Christiano, A. M., Uitto, J.
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<strong>Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.</strong>
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Proc. Nat. Acad. Sci. 97: 6001-6006, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10811882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10811882</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10811882[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=10811882" 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/10.1073/pnas.100041297" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Sherer2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sherer, D. W., Bercovitch, L., Lebwohl, M.
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<strong>Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring.</strong>
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J. Am. Acad. Derm. 44: 534-537, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11209132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11209132</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11209132" 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/10.1067/mjd.2001.112401" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Struk1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Struk, B., Neldner, K. H., Rao, V. S., St Jean, P., Lindpaintner, K.
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<strong>Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.</strong>
|
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Hum. Molec. Genet. 6: 1823-1828, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9302259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9302259</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9302259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/6.11.1823" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="van Soest1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Soest, S., Swart, J., Tijmes, N., Sandkuijl, L. A., Rommers, J., Bergen, A. A. B.
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<strong>A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1.</strong>
|
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Genome Res. 7: 830-834, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9267806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9267806</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9267806[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=9267806" 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/10.1101/gr.7.8.830" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Wise1966" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wise, D.
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<strong>Hereditary disorders of connective tissues.In: Gottron, H.; Schnyder, U. : Vererbung von Hautkrankheiten.</strong>
|
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Berlin: Springer-Verlag (pub.) 1966. P. 471.
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</p>
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</div>
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/14/2009
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick - edited : 9/21/2005<br>Anne M. Stumpf - updated : 9/21/2005<br>Victor A. McKusick - updated : 5/11/2004<br>Cassandra L. Kniffin - reorganized : 10/24/2003<br>Jane Kelly - updated : 8/22/2003<br>Ada Hamosh - updated : 5/22/2000<br>Victor A. McKusick - edited : 12/17/1997<br>Victor A. McKusick - updated : 11/4/1997
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/09/2016
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 6/29/2010<br>terry : 4/30/2010<br>wwang : 10/30/2009<br>ckniffin : 10/14/2009<br>alopez : 3/9/2007<br>alopez : 10/12/2005<br>alopez : 9/22/2005<br>alopez : 9/21/2005<br>alopez : 9/21/2005<br>alopez : 9/21/2005<br>tkritzer : 6/3/2004<br>terry : 5/11/2004<br>terry : 2/19/2004<br>carol : 10/24/2003<br>ckniffin : 10/16/2003<br>carol : 8/22/2003<br>carol : 6/14/2000<br>alopez : 5/22/2000<br>carol : 8/24/1998<br>mark : 12/17/1997<br>terry : 12/10/1997<br>mark : 11/19/1997<br>terry : 11/13/1997<br>terry : 11/4/1997<br>davew : 6/9/1994<br>supermim : 3/16/1992<br>carol : 11/25/1991<br>carol : 1/4/1991<br>carol : 8/22/1990<br>supermim : 3/20/1990
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<h3>
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<span class="mim-font">
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<strong>#</strong> 177850
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
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</h3>
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<div>
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<br />
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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<div>
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<span class="h3 mim-font">
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PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED
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</span>
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<br />
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<p>
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 758;
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<strong>DO:</strong> 2738;
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</span>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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16p13.11
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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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Pseudoxanthoma elasticum, forme fruste
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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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177850
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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ABCC6
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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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603234
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</span>
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</td>
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</tbody>
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</table>
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<br />
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because individuals heterozygous for mutation in the ABCC6 gene (603234) in the overwhelming majority of cases express limited manifestations of the pseudoxanthoma elasticum phenotype. In rare cases heterozygosity for mutations in the ABCC6 gene appears to result in expression of the full PXE phenotype in 2 generations (see 603234.0018).</p><p>A digenic form of PXE resulting from an ABCC6 mutation (603234.0001) and a GGCX mutation (137167.0012) has been reported.</p><p>For a phenotypic description of PXE, see 264800.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hausser and Anton-Lamprecht (1991) described a family in which the mother and grandmother died because of major vascular complications of PXE. Three adolescent sibs showed no clinical manifestations of PXE. However, ultrastructural investigation of overtly normal skin in sites of predilection gave a positive diagnosis. Dermal connective tissue showed a specific aberrant pattern; elastin (130160) of elastic fibers regularly contained small foci of calcification resembling those in perilesional skin of the mother and other PXE patients; in collagen bundles adjacent to altered elastic fibers, collagen fibrils occurred with thickened diameters and flower-like contours. </p><p>Van Soest et al. (1997) reported a family from a genetically isolated population in the Netherlands with autosomal recessive PXE in which vascular symptoms appeared in 40 to 50% of the heterozygotes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Bacchelli et al. (1999) and Sherer et al. (2001) presented evidence that heterozygous mutant family members of affected individuals present limited manifestations of PXE. </p><p>Bergen et al. (2000), Le Saux et al. (2000), and Ringpfeil et al. (2000) identified missense, nonsense, and splice site mutations, as well as deletions and insertions, in the ABCC6 gene (603234) accounting for pseudoxanthoma elasticum (264800). Mutations appeared to represent autosomal recessive (Le Saux et al., 2000) and autosomal dominant (Bergen et al., 2000) modes of inheritance, and sporadic cases. The R114X mutation (603234.0001) was found in families segregating autosomal dominant PXE and in families segregating autosomal recessive PXE. </p><p>Plomp et al. (2004) described a family in which criteria for 'definite' PXE were met in 2 generations and in which an arg1459-to-cys substitution (R1459C) in the ABCC protein was detected on 1 allele only (603234.0018). They stated that the R1459C mutation might be one that could cause PXE in the heterozygous state. In their review of families with putative autosomal dominant PXE, including this family and 2 others examined by them, the authors noted that they did not find a single family with definite PXE in 3 or more generations. </p><p>Bergen (2006) stated that the family with the apparently heterozygous R1459C mutation studied by Plomp et al. (2004) remained 'an interesting puzzle and is perhaps the always existing 'exception to the rule'.' </p><p>Miksch et al. (2005) performed a mutation screen in ABCC6 using haplotype analysis in conjunction with direct sequencing to achieve a mutation detection rate of 97%. The resultant data indicated that the inheritance of PXE is exclusively autosomal recessive, and that all mutations in the ABCC6 gene associated with PXE appear to lead to loss of function of the protein. The authors suggested that clinical carriers of the trait with a haplotypic heterozygous allelic status for one of the familial disease alleles may express a forme fruste of the disorder that can be characterized, in part, by category II diagnostic criteria (Neldner and Struk, 2002) according to the consensus conference (Lebwohl et al., 1994). Such carriers may have positive skin biopsy of nonlesional skin and/or show mottled hyperpigmentation or angioid streaks, but will not exhibit the long-term manifestations and complications of the disorder that are the consequences of the loss of function of both ABCC6 alleles. Miksch et al. (2005) stated that in the families examined by them, none of the heterozygotes for a large deletion showed any apparent clinical signs of PXE according to category I diagnostic criteria. </p><p><strong><em>PXE, Forme Fruste, Digenic, ABCC6/GGCX</em></strong></p><p>
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In a woman and her sister with biopsy-confirmed PXE, Li et al. (2009) identified compound heterozygosity for a mutation in the ABCC6 gene (R1141X; 603234.0001) mutation and a mutation in the GGCX gene (V255M; 137167.0012). Neither had evidence of a coagulopathy, but skin biopsies showed undercarboxylated matrix gla proteins (MGP; 154870) in the areas of abnormal mineralization. Since R1141X in the heterozygous state is usually not associated with clinical features, the findings suggested that women had digenic inheritance of PXE. In contrast, 2 other family members who were compound heterozygous for R1141X and another mutation in the GGCX gene (S300F; 137167.0013) had no signs of either disorder on clinical exam but refused to participate in further clinical testing. Plasma levels of total undercarboxylated MGP in the 2 clinically unaffected individuals were at the lower end of normal. Although the reasons for the lack of clinical findings in these latter individuals remained unclear, Li et al. (2009) concluded that undercarboxylation of MGP plays a critical role in aberrant mineralization of tissues in PXE. </p>
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<strong>History</strong>
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<p>Wise (1966) stated that about a quarter of all families with 2 or more cases of PXE have cases in successive generations. He noted that no quantitative or qualitative difference between the cases could be discerned in families with successive generations affected (autosomal dominant) and families with unaffected but consanguineous parents (autosomal recessive).</p><p>In a series of 100 personally studied cases, Neldner (1988) found no instance of 3-generation involvement. Indeed, only 3 patients of the 100 were considered to have autosomal dominant inheritance: a mother-daughter pair and a third patient whose father had biopsy-proven PXE but was not a member of the study. In addition, there were 3 families with 3 affected sibs each and 4 families with 2 affected sibs. The 100 patients came from 88 separate kindreds. Three of the patients from single-patient sibships had cousins with PXE.</p><p>Struk et al. (1997) stated that an autosomal dominant pattern of transmission of PXE occurs in approximately 10% of affected families. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
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Bergen, A. A. B.
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<strong>Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth. (Commentary)</strong>
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<p class="mim-text-font">
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Lebwohl, M., Neldner, K., Pope, F. M., De Paepe, A., Christiano, A. M., Boyd, C. D., Uitto, J., McKusick, V. A.
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Le Saux, O., Urban, Z., Tschuch, C., Csiszar, K., Bacchelli, B., Quaglino, D., Pasquali-Ronchetti, I., Pope, F. M., Richards, A., Terry, S., Bercovitch, L., de Paepe, A., Boyd, C. D.
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<strong>Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.</strong>
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Nature Genet. 25: 223-227, 2000.
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Li, Q., Grange, D. K., Armstrong, N. L., Whelan, A. J., Hurley, M. Y., Rishavy, M. A., Hallgren, K. W., Berkner, K. L., Schurgers, L. J., Jiang, Q., Uitto, J.
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<strong>Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.</strong>
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J. Invest. Derm. 129: 553-563, 2009.
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Miksch, S., Lumsden, A., Guenther, U. P., Foernzler, D., Christen-Zach, S., Daugherty, C., Ramesar, R. S., Lebwohl, M., Hohl, D., Neldner, K. H., Lindpaintner, K., Richards, R. I., Struk, B.
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<strong>Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.</strong>
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Hum. Mutat. 26: 235-248, 2005.
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[Full Text: https://doi.org/10.1002/humu.20206]
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<p class="mim-text-font">
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Neldner, K., Struk, B.
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<strong>Pseudoxanthoma elasticum.In: Royce, P. M.; Steinmann, B. (eds.) : Connective tissue and its heritable disorders: molecular, genetic, and medical aspects. (2nd ed.)</strong>
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Neldner, K. H.
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Clin. Derm. 6(1): 83-92, 1988.
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Plomp, A. S., Hu, X., de Jong, P. T. V. M., Bergen, A. A. B.
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Ringpfeil, F., Lebwohl, M.G., Christiano, A. M., Uitto, J.
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<strong>Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.</strong>
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Proc. Nat. Acad. Sci. 97: 6001-6006, 2000.
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Sherer, D. W., Bercovitch, L., Lebwohl, M.
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Struk, B., Neldner, K. H., Rao, V. S., St Jean, P., Lindpaintner, K.
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<strong>Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.</strong>
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Hum. Molec. Genet. 6: 1823-1828, 1997.
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van Soest, S., Swart, J., Tijmes, N., Sandkuijl, L. A., Rommers, J., Bergen, A. A. B.
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<strong>A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1.</strong>
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Wise, D.
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<strong>Hereditary disorders of connective tissues.In: Gottron, H.; Schnyder, U. : Vererbung von Hautkrankheiten.</strong>
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Berlin: Springer-Verlag (pub.) 1966. P. 471.
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accessible. Unfortunately, it is not free to produce. Expert curators
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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