3826 lines
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Entry
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- #188050 - THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1
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- OMIM
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<p>
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<span class="h4">#188050</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/188050"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS188050"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=THROMBOPHILIA DUE TO THROMBIN DEFECT" 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.ncbi.nlm.nih.gov/books/NBK1148/" 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/7086" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/prothrombin-thrombophilia" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=188050[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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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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<div 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/search?q=DOID:0080701 OR DOID:0111907" 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/188050" 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/search/disease/DOID:0080701 DOID:0111907" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:188050" 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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</span>
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 111293003<br />
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<strong>ICD10CM:</strong> I82.90<br />
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<strong>DO:</strong> 0080701, 0111907<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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188050
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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THROMBOPHILIA DUE TO FACTOR 2 DEFECT<br />
|
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VENOUS THROMBOSIS<br />
|
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VENOUS THROMBOEMBOLISM
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<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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THROMBOSIS, PROTECTION AGAINST, 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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<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>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/157?start=-3&limit=10&highlight=157">
|
|
1p36.22
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Thromboembolism, susceptibility to}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188050"> 188050 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MTHFR
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607093"> 607093 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/6/35?start=-3&limit=10&highlight=35">
|
|
6p25.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Venous thrombosis, protection against}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188050"> 188050 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
F13A1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/134570"> 134570 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/10/571?start=-3&limit=10&highlight=571">
|
|
10q25.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Venous thromboembolism, susceptibility to}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188050"> 188050 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
HABP2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603924"> 603924 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/351?start=-3&limit=10&highlight=351">
|
|
11p11.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Thrombophilia 1 due to thrombin defect
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188050"> 188050 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
F2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176930"> 176930 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/188050" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS188050" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/188050" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/188050" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Thrombosis, recurrent <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550150</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004419</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/118927008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">118927008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/439127006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">439127006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/264579008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">264579008</a>]</span><br /> -
|
|
Deep vein thrombosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/404223003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">404223003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128053003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128053003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I82.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I82.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149871</a>, <a href="https://bioportal.bioontology.org/search?q=C0340708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0340708</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002625" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002625</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002625" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002625</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Lung </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pulmonary embolism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59282003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59282003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I26.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I26.99</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I26" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I26</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034065&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034065</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002204" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002204</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002204" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002204</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cerebral thrombosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95455008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95455008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71444005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71444005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I66" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I66</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/434.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">434.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151945&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151945</a>, <a href="https://bioportal.bioontology.org/search?q=C0795687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0795687</a>, <a href="https://bioportal.bioontology.org/search?q=C0079102&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0079102</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005305</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005305</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
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|
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in childhood<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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|
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- Caused by mutation in the coagulation factor 2 gene (F2, <a href="/entry/176930#0009">176930.0009</a>)<br />
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</span>
|
|
</div>
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</div>
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</div>
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|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
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|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Thrombophilia
|
|
- <a href="/phenotypicSeries/PS188050">PS188050</a>
|
|
- 17 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/157?start=-3&limit=10&highlight=157"> 1p36.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188050"> {Thromboembolism, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188050"> 188050 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607093"> MTHFR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607093"> 607093 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1404?start=-3&limit=10&highlight=1404"> 1q24.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188055"> {Thrombophilia, susceptibility to, due to factor V Leiden} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188055"> 188055 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612309"> F5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612309"> 612309 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1404?start=-3&limit=10&highlight=1404"> 1q24.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188055"> Thrombophilia 2 due to activated protein C resistance </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188055"> 188055 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612309"> F5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612309"> 612309 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1440?start=-3&limit=10&highlight=1440"> 1q25.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613118"> Thrombophilia 7 due to antithrombin III deficiency </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613118"> 613118 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/107300"> SERPINC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/107300"> 107300 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/623?start=-3&limit=10&highlight=623"> 2q14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176860"> Thrombophilia 3 due to protein C deficiency, autosomal dominant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176860"> 176860 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612283"> PROC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612283"> 612283 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/623?start=-3&limit=10&highlight=623"> 2q14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612304"> Thrombophilia 3 due to protein C deficiency, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612304"> 612304 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612283"> PROC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612283"> 612283 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/481?start=-3&limit=10&highlight=481"> 3q11.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612336"> Thrombophilia 5 due to protein S deficiency, autosomal dominant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612336"> 612336 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176880"> PROS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176880"> 176880 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/481?start=-3&limit=10&highlight=481"> 3q11.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614514"> Thrombophilia 5 due to protein S deficiency, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614514"> 614514 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176880"> PROS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176880"> 176880 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/938?start=-3&limit=10&highlight=938"> 3q27.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613116"> Thrombophilia 11 due to HRG deficiency </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613116"> 613116 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142640"> HRG </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142640"> 142640 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/35?start=-3&limit=10&highlight=35"> 6p25.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188050"> {Venous thrombosis, protection against} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188050"> 188050 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/134570"> F13A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/134570"> 134570 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/171?start=-3&limit=10&highlight=171"> 8p12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612348"> ?Thrombophilia 9 due to decreased release of tissue plasminogen </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612348"> 612348 </a>
|
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<span class="mim-font">
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<a href="/entry/612348"> THPH9 </a>
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<a href="/entry/612348"> 612348 </a>
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<a href="/geneMap/10/571?start=-3&limit=10&highlight=571"> 10q25.3 </a>
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<span class="mim-font">
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<a href="/entry/188050"> {Venous thromboembolism, susceptibility to} </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span 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 class="mim-font">
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<a href="/entry/188050"> 188050 </a>
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<span class="mim-font">
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<a href="/entry/603924"> HABP2 </a>
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<span class="mim-font">
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<a href="/entry/603924"> 603924 </a>
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<span class="mim-font">
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<a href="/geneMap/11/351?start=-3&limit=10&highlight=351"> 11p11.2 </a>
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<span class="mim-font">
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<a href="/entry/188050"> Thrombophilia 1 due to thrombin defect </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span 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 class="mim-font">
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<a href="/entry/188050"> 188050 </a>
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<span class="mim-font">
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<a href="/entry/176930"> F2 </a>
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<span class="mim-font">
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<a href="/entry/176930"> 176930 </a>
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<span class="mim-font">
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<a href="/geneMap/20/145?start=-3&limit=10&highlight=145"> 20p11.21 </a>
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<span class="mim-font">
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<a href="/entry/614486"> Thrombophilia 12 due to thrombomodulin defect </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span 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 class="mim-font">
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<a href="/entry/614486"> 614486 </a>
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<span class="mim-font">
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<a href="/entry/188040"> THBD </a>
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<span class="mim-font">
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<a href="/entry/188040"> 188040 </a>
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<a href="/geneMap/22/67?start=-3&limit=10&highlight=67"> 22q11.21 </a>
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<span class="mim-font">
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<a href="/entry/612356"> Thrombophilia 10 due to heparin cofactor II deficiency </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span 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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<td>
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<span class="mim-font">
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<a href="/entry/612356"> 612356 </a>
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<span class="mim-font">
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<a href="/entry/142360"> HCF2 </a>
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<span class="mim-font">
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<a href="/entry/142360"> 142360 </a>
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<a href="/geneMap/X/739?start=-3&limit=10&highlight=739"> Xq27.1 </a>
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</span>
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</td>
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<span class="mim-font">
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<a href="/entry/300807"> {Deep venous thrombosis, protection against} </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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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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<td>
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<span class="mim-font">
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<a href="/entry/300807"> 300807 </a>
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</span>
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</td>
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<span class="mim-font">
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<a href="/entry/300746"> F9 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/300746"> 300746 </a>
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<span class="mim-font">
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<a href="/geneMap/X/739?start=-3&limit=10&highlight=739"> Xq27.1 </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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<a href="/entry/300807"> Thrombophilia 8, X-linked, due to factor IX defect </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="X-linked recessive">XLR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/300807"> 300807 </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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<a href="/entry/300746"> F9 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/300746"> 300746 </a>
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</td>
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</tbody>
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</table>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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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="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because susceptibility to thrombophilia (THPH1) can be conferred by heterozygous mutation in the thrombin gene (F2; <a href="/entry/176930">176930</a>) on chromosome 11p11.</p>
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<a id="description" class="mim-anchor"></a>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Thrombophilia is a multifactorial disorder of inappropriate clot formation resulting from an interaction of genetic, acquired, and circumstantial predisposing factors. Venous thromboembolism most commonly manifests as deep vein thrombosis, which may progress to pulmonary embolism if the clot dislodges and travels to the lung. Other manifestations include thromboses of the cerebral or visceral veins and recurrent pregnancy loss (summary by <a href="#11" class="mim-tip-reference" title="Seligsohn, U., Lubetsky, A. <strong>Genetic susceptibility to venous thrombosis.</strong> New Eng. J. Med. 344: 1222-1231, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11309638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11309638</a>] [<a href="https://doi.org/10.1056/NEJM200104193441607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11309638">Seligsohn and Lubetsky, 2001</a> and <a href="#12" class="mim-tip-reference" title="Varga, E. A., Kujovich, J. L. <strong>Management of inherited thrombophilia: guide for genetics professionals.</strong> Clin. Genet. 81: 7-17, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21707594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21707594</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01746.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21707594">Varga and Kujovich, 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21707594+11309638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Thrombophilia</em></strong></p><p>
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THPH2 (<a href="/entry/188055">188055</a>) is caused by mutation in the F5 gene (<a href="/entry/612309">612309</a>) on chromosome 1q23; THPH3 (<a href="/entry/176860">176860</a>) and THPH4 (<a href="/entry/612304">612304</a>) are both caused by mutation in the PROC gene (<a href="/entry/612283">612283</a>) on 2q; THPH5 (<a href="/entry/612336">612336</a>) and THPH6 (<a href="/entry/614514">614514</a>) are caused by mutation in the PROS1 gene (<a href="/entry/176880">176880</a>) on 3q11; THPH7 (<a href="/entry/613118">613118</a>) is caused by mutation in the AT3 gene (<a href="/entry/107300">107300</a>) on 1q25; THPH8 (<a href="/entry/300807">300807</a>) is caused by mutation in the F9 gene (<a href="/entry/300746">300746</a>) on Xq27; THPH9 (<a href="/entry/612348">612348</a>) is associated with decreased release of tissue plasminogen activator (PLAT; <a href="/entry/173370">173370</a>); THPH10 (<a href="/entry/612356">612356</a>) is caused by mutation in the HCF2 gene (<a href="/entry/142360">142360</a>) on 22q11; THPH11 (<a href="/entry/613116">613116</a>) is caused by mutation in the HRG gene (<a href="/entry/142640">142640</a>) on 3q27; and THPH12 (<a href="/entry/614486">614486</a>) is associated with variation in the THBD gene (<a href="/entry/188040">188040</a>) on 20p11.</p><p>Susceptibility to thrombosis has also been associated with variation in additional genes, including MTHFR (<a href="/entry/607093#0003">607093.0003</a>); F13B (<a href="/entry/134580#0003">134580.0003</a>); plasminogen activator inhibitor (SERPINE1; <a href="/entry/173360">173360</a>); and several genes encoding fibrinogen (FGA, <a href="/entry/134820">134820</a>; FGB, <a href="/entry/134830">134830</a>; FGG, <a href="/entry/134850">134850</a>). Variation in the SERPINA10 (see <a href="/entry/605271#0001">605271.0001</a>), KNG1 (<a href="/entry/612358">612358</a>) and HABP2 (<a href="/entry/603924">603924</a>) genes has also been reported.</p><p>Protection against venous thrombosis is associated with variation in the F13A1 gene (<a href="/entry/134570">134570</a>) on 6p25.</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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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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 id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<p><a href="#6" class="mim-tip-reference" title="Miyawaki, Y., Suzuki, A., Fujita, J., Maki, A., Okuyama, E., Murata, M., Takagi, A., Murate, T., Kunishima, S., Sakai, M., Okamoto, K., Matsushita, T., Naoe, T., Saito, H., Kojima, T. <strong>Thrombosis from a prothrombin mutation conveying antithrombin resistance.</strong> New Eng. J. Med. 366: 2390-2396, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22716977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22716977</a>] [<a href="https://doi.org/10.1056/NEJMoa1201994" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22716977">Miyawaki et al. (2012)</a> reported a Japanese family, originating from Yukuhashi in the northern part of the Kyushu islands, with recurrent thrombophilia. The family had originally been reported by <a href="#9" class="mim-tip-reference" title="Sakai, M., Urano, H., Iinuma, A., Okamoto, K., Ohsato, K., Shirahata, A. <strong>A family with multiple thrombosis including infancy occurrence.</strong> J. UOEH 23: 297-305, 2001. Note: Article in Japanese.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11570053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11570053</a>] [<a href="https://doi.org/10.7888/juoeh.23.297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11570053">Sakai et al. (2001)</a>. There were at least 9 affected individuals spanning 3 generations. The proband had onset of recurrent deep vein thrombosis at age 11 years, and many affected family members had onset of deep vein thrombosis or pulmonary embolism before age 50 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11570053+22716977" 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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<div>
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<a id="mapping" class="mim-anchor"></a>
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<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Mapping</strong>
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</h4>
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<div id="mimMappingFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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In a multistage study using a collection of 5,862 cases with venous thrombosis and 7,112 healthy controls, <a href="#7" class="mim-tip-reference" title="Morange, P.-E., Bezemer, I., Saut, N., Bare, L., Burgos, G., Brocheton, J., Durand, H., Biron-Andreani, C., Schved, J.-F., Pernod, G., Galan, P., Drouet, L., and 17 others. <strong>A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1.</strong> Am. J. Hum. Genet. 86: 592-595, 2010. Note: Erratum: Am. J. Hum. Genet. 86: 655 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20226436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20226436</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.02.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20226436">Morange et al. (2010)</a> identified a locus on chromosome 6p24.1 as a susceptibility locus for venous thrombosis. The C allele of the single-nucleotide polymorphism (SNP) <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs169713;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs169713</a>, which resides 92 kb 5-prime of the HIVEP1 gene (<a href="/entry/194540">194540</a>), was associated with an increased risk for venous thrombosis, with an odds ratio of 1.2 (95% confidence interval 1.13-1.27, P = 2.86 x 10(-9)). HIVEP1 codes for a protein that participates in the transcriptional regulation of inflammatory target genes by binding specific DNA sequences in their promoter and enhancer regions. <a href="#7" class="mim-tip-reference" title="Morange, P.-E., Bezemer, I., Saut, N., Bare, L., Burgos, G., Brocheton, J., Durand, H., Biron-Andreani, C., Schved, J.-F., Pernod, G., Galan, P., Drouet, L., and 17 others. <strong>A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1.</strong> Am. J. Hum. Genet. 86: 592-595, 2010. Note: Erratum: Am. J. Hum. Genet. 86: 655 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20226436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20226436</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.02.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20226436">Morange et al. (2010)</a> concluded that these results identified a locus involved in venous thrombosis susceptibility that lies outside the traditional coagulation/fibrinolysis pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20226436" 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>In general, thrombophilia is a complex (multifactorial) trait. The genes involved in complex traits are, for the most part, susceptibility genes, not genes that represent the primary cause of the disorder, as in the case of mendelian disorders. Mendelian disorders fit the model which might be referred to as mendelian/garrodian; complex, or multifactorial, traits follow the galtonian/fisherian model. Archibald Garrod's conception of metabolic blocks in a biochemical pathway caused by a mendelizing mutation obtains for the inborn errors of metabolism which he first described and named. Francis Galton (1822-1911) conceived the notion of multiple genetic factors involved in quantitative traits such as intelligence and stature. His disciples argued against the relevance of mendelism in relation to quantitative traits, indeed in relation to most inherited traits. <a href="#4" class="mim-tip-reference" title="Fisher, R. A. <strong>Correlation between relatives on the supposition of mendelian inheritance.</strong> Trans. Roy. Soc. Edinburgh 52: 399-433, 1918."None>Fisher (1918)</a> showed that the behavior of quantitative traits is consistent with collaboration of multiple genetic factors, each behaving in a mendelian manner.</p><p><a href="#10" class="mim-tip-reference" title="Schafer, A. I. <strong>Venous thrombosis as a chronic disease. (Editorial)</strong> New Eng. J. Med. 340: 955-956, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10089190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10089190</a>] [<a href="https://doi.org/10.1056/NEJM199903253401209" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10089190">Schafer (1999)</a> discussed venous thrombosis as a chronic and polygenic disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10089190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The transmission pattern of recurrent thrombophilia due to an F2 mutation in the Japanese family reported by <a href="#9" class="mim-tip-reference" title="Sakai, M., Urano, H., Iinuma, A., Okamoto, K., Ohsato, K., Shirahata, A. <strong>A family with multiple thrombosis including infancy occurrence.</strong> J. UOEH 23: 297-305, 2001. Note: Article in Japanese.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11570053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11570053</a>] [<a href="https://doi.org/10.7888/juoeh.23.297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11570053">Sakai et al. (2001)</a> and <a href="#6" class="mim-tip-reference" title="Miyawaki, Y., Suzuki, A., Fujita, J., Maki, A., Okuyama, E., Murata, M., Takagi, A., Murate, T., Kunishima, S., Sakai, M., Okamoto, K., Matsushita, T., Naoe, T., Saito, H., Kojima, T. <strong>Thrombosis from a prothrombin mutation conveying antithrombin resistance.</strong> New Eng. J. Med. 366: 2390-2396, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22716977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22716977</a>] [<a href="https://doi.org/10.1056/NEJMoa1201994" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22716977">Miyawaki et al. (2012)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11570053+22716977" 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="#5" class="mim-tip-reference" title="Kearon, C., Gent, M., Hirsh, J., Weitz, J., Kovacs, M. J., Anderson, D. R., Turpie, A. G., Green, D., Ginsberg, J. S., Wells, P., MacKinnon, B., Julian, J. A. <strong>A comparison of three months of anticoagulation with extended anticoagulation for a first episode of idiopathic venous thromboembolism.</strong> New Eng. J. Med. 340: 901-907, 1999. Note: Erratum: New Eng. J. Med. 341: 298 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10089183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10089183</a>] [<a href="https://doi.org/10.1056/NEJM199903253401201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10089183">Kearon et al. (1999)</a> presented evidence suggesting that patients with a first episode of idiopathic venous embolism should be treated with anticoagulant agents for longer than 3 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10089183" 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="#8" class="mim-tip-reference" title="Poort, S. R., Rosendaal, F. R., Reitsma, P. H., Bertina, R. M. <strong>A common genetic variation in the 3-prime-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis.</strong> Blood 88: 3698-3703, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8916933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8916933</a>]" pmid="8916933">Poort et al. (1996)</a> found that a common 20210G-A transition in the 3-prime untranslated region of the prothrombin gene (<a href="/entry/176930#0009">176930.0009</a>) was associated with elevated plasma prothrombin levels and an increased risk of venous thrombosis. The SNP was found in 18% of probands of families with thrombosis, 6% of unselected consecutive patients with deep vein thrombosis, and 2% of healthy controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8916933" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Chamouard, P., Pencreach, E., Maloisel, F., Grunebaum, L., Ardizzone, J.-F., Meyer, A., Gaub, M.-P., Goetz, J., Baumann, R., Uring-Lambert, B., Levy, S., Dufour, P., Hauptmann, G., Oudet, P. <strong>Frequent factor II G20210A mutation in idiopathic portal vein thrombosis.</strong> Gastroenterology 116: 144-148, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9869612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9869612</a>] [<a href="https://doi.org/10.1016/s0016-5085(99)70238-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9869612">Chamouard et al. (1999)</a> studied the frequency of the factor II 20210G-A mutation in 10 white European patients with idiopathic portal vein thrombosis. They studied 5 women and 5 men; mean age was 50.4 years. The frequency of the 20210G-A mutation was found to be 40% in idiopathic portal vein thrombosis compared with 4.8% in controls or patients with nonidiopathic portal vein thrombosis or deep vein thrombosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9869612" 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="De Stefano, V., Martinelli, I., Mannucci, P. M., Paciaroni, K., Chiusolo, P., Casorelli, I., Rossi, E., Leone, G. <strong>The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation.</strong> New Eng. J. Med. 341: 801-806, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10477778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10477778</a>] [<a href="https://doi.org/10.1056/NEJM199909093411104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10477778">De Stefano et al. (1999)</a> found that patients who were heterozygous for both factor V Leiden (1691G-A; 612309.0001) and prothrombin 20210G-A had a 2.6-fold higher risk of recurrent thrombosis than did carriers of factor V Leiden alone. Patients who were heterozygous for factor V Leiden had a risk of recurrent deep venous thrombosis that was similar to that among patients who had no known mutations in either factor II or factor V. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10477778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Spanish family, <a href="#2" class="mim-tip-reference" title="Corral, J., Zuazu-Jausoro, I., Rivera, J., Gonzalez-Conejero, R., Ferrer, F., Vicente, V. <strong>Clinical and analytical relevance of the combination of prothrombin 20210A/A and factor V Leiden: results from a large family.</strong> Brit. J. Haemat. 105: 560-563, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10233438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10233438</a>]" pmid="10233438">Corral et al. (1999)</a> identified 3 subjects homozygous for the 20210A prothrombin mutation who were also heterozygous for factor V Leiden. The combination of the 2 mutations increased the risk of developing venous thrombotic episodes at an earlier age. However, even in association with factor V Leiden, the homozygous condition of the 20210A prothrombin mutation required additional risk factors to induce a thrombotic event. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10233438" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a Japanese family with recurrent thrombophilia, <a href="#6" class="mim-tip-reference" title="Miyawaki, Y., Suzuki, A., Fujita, J., Maki, A., Okuyama, E., Murata, M., Takagi, A., Murate, T., Kunishima, S., Sakai, M., Okamoto, K., Matsushita, T., Naoe, T., Saito, H., Kojima, T. <strong>Thrombosis from a prothrombin mutation conveying antithrombin resistance.</strong> New Eng. J. Med. 366: 2390-2396, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22716977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22716977</a>] [<a href="https://doi.org/10.1056/NEJMoa1201994" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22716977">Miyawaki et al. (2012)</a> identified a heterozygous mutation in the F2 gene (R596L; <a href="/entry/176930#0015">176930.0015</a>). The family had originally been reported by <a href="#9" class="mim-tip-reference" title="Sakai, M., Urano, H., Iinuma, A., Okamoto, K., Ohsato, K., Shirahata, A. <strong>A family with multiple thrombosis including infancy occurrence.</strong> J. UOEH 23: 297-305, 2001. Note: Article in Japanese.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11570053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11570053</a>] [<a href="https://doi.org/10.7888/juoeh.23.297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11570053">Sakai et al. (2001)</a>. In vitro ELISA studies showed that the mutant prothrombin did not form a complex with antithrombin (SERPINC1; <a href="/entry/107300">107300</a>) even when heparin was added. A thrombin generation assay showed that the mutant prothrombin activity was lower than wildtype, but its inactivation in reconstituted plasma was exceedingly slow. <a href="#6" class="mim-tip-reference" title="Miyawaki, Y., Suzuki, A., Fujita, J., Maki, A., Okuyama, E., Murata, M., Takagi, A., Murate, T., Kunishima, S., Sakai, M., Okamoto, K., Matsushita, T., Naoe, T., Saito, H., Kojima, T. <strong>Thrombosis from a prothrombin mutation conveying antithrombin resistance.</strong> New Eng. J. Med. 366: 2390-2396, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22716977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22716977</a>] [<a href="https://doi.org/10.1056/NEJMoa1201994" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22716977">Miyawaki et al. (2012)</a> concluded that although the procoagulant activity of the R596L mutant prothrombin was somewhat impaired, the antithrombin:thrombin complex was considerably impaired, causing continued facilitation of coagulation. The findings indicated that R596L was a gain-of-function mutation resulting in the resistance to antithrombin, and conferring susceptibility to thrombosis. The mutant variant was termed 'prothrombin Yukuhashi.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11570053+22716977" 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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Chamouard, P., Pencreach, E., Maloisel, F., Grunebaum, L., Ardizzone, J.-F., Meyer, A., Gaub, M.-P., Goetz, J., Baumann, R., Uring-Lambert, B., Levy, S., Dufour, P., Hauptmann, G., Oudet, P.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9869612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9869612</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9869612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10233438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10233438</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10233438" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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De Stefano, V., Martinelli, I., Mannucci, P. M., Paciaroni, K., Chiusolo, P., Casorelli, I., Rossi, E., Leone, G.
|
|
<strong>The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation.</strong>
|
|
New Eng. J. Med. 341: 801-806, 1999.
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|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10477778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10477778</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10477778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1056/NEJM199909093411104" 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="4" class="mim-anchor"></a>
|
|
<a id="Fisher1918" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fisher, R. A.
|
|
<strong>Correlation between relatives on the supposition of mendelian inheritance.</strong>
|
|
Trans. Roy. Soc. Edinburgh 52: 399-433, 1918.
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|
|
|
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|
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|
|
</p>
|
|
</div>
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|
</li>
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<li>
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|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Kearon1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kearon, C., Gent, M., Hirsh, J., Weitz, J., Kovacs, M. J., Anderson, D. R., Turpie, A. G., Green, D., Ginsberg, J. S., Wells, P., MacKinnon, B., Julian, J. A.
|
|
<strong>A comparison of three months of anticoagulation with extended anticoagulation for a first episode of idiopathic venous thromboembolism.</strong>
|
|
New Eng. J. Med. 340: 901-907, 1999. Note: Erratum: New Eng. J. Med. 341: 298 only, 1999.
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|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10089183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10089183</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10089183" 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/10.1056/NEJM199903253401201" 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="6" class="mim-anchor"></a>
|
|
<a id="Miyawaki2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Miyawaki, Y., Suzuki, A., Fujita, J., Maki, A., Okuyama, E., Murata, M., Takagi, A., Murate, T., Kunishima, S., Sakai, M., Okamoto, K., Matsushita, T., Naoe, T., Saito, H., Kojima, T.
|
|
<strong>Thrombosis from a prothrombin mutation conveying antithrombin resistance.</strong>
|
|
New Eng. J. Med. 366: 2390-2396, 2012.
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|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22716977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22716977</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22716977" 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/10.1056/NEJMoa1201994" 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="7" class="mim-anchor"></a>
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<a id="Morange2010" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Morange, P.-E., Bezemer, I., Saut, N., Bare, L., Burgos, G., Brocheton, J., Durand, H., Biron-Andreani, C., Schved, J.-F., Pernod, G., Galan, P., Drouet, L., and 17 others.
|
|
<strong>A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1.</strong>
|
|
Am. J. Hum. Genet. 86: 592-595, 2010. Note: Erratum: Am. J. Hum. Genet. 86: 655 only, 2010.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20226436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20226436</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20226436" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1016/j.ajhg.2010.02.011" 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>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Poort1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Poort, S. R., Rosendaal, F. R., Reitsma, P. H., Bertina, R. M.
|
|
<strong>A common genetic variation in the 3-prime-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis.</strong>
|
|
Blood 88: 3698-3703, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8916933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8916933</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8916933" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
|
|
<a id="Sakai2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sakai, M., Urano, H., Iinuma, A., Okamoto, K., Ohsato, K., Shirahata, A.
|
|
<strong>A family with multiple thrombosis including infancy occurrence.</strong>
|
|
J. UOEH 23: 297-305, 2001. Note: Article in Japanese.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11570053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11570053</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11570053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.7888/juoeh.23.297" 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="10" class="mim-anchor"></a>
|
|
<a id="Schafer1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schafer, A. I.
|
|
<strong>Venous thrombosis as a chronic disease. (Editorial)</strong>
|
|
New Eng. J. Med. 340: 955-956, 1999.
|
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10089190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10089190</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10089190" 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/10.1056/NEJM199903253401209" 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="11" class="mim-anchor"></a>
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<a id="Seligsohn2001" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
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Seligsohn, U., Lubetsky, A.
|
|
<strong>Genetic susceptibility to venous thrombosis.</strong>
|
|
New Eng. J. Med. 344: 1222-1231, 2001.
|
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11309638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11309638</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11309638" 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/10.1056/NEJM200104193441607" 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="12" class="mim-anchor"></a>
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<a id="Varga2012" class="mim-anchor"></a>
|
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<div class="">
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<p class="mim-text-font">
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Varga, E. A., Kujovich, J. L.
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<strong>Management of inherited thrombophilia: guide for genetics professionals.</strong>
|
|
Clin. Genet. 81: 7-17, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21707594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21707594</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21707594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2011.01746.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 6/20/2012
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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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Cassandra L. Kniffin - updated : 2/23/2012<br>Ada Hamosh - updated : 6/14/2010<br>Victor A. McKusick - updated : 2/28/2002<br>Victor A. McKusick - updated : 5/10/2001<br>Victor A. McKusick - updated : 4/5/1999
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
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Creation Date:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 11/02/2017
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/09/2017<br>carol : 11/25/2015<br>carol : 6/17/2015<br>terry : 3/14/2013<br>carol : 6/20/2012<br>ckniffin : 6/20/2012<br>carol : 3/1/2012<br>carol : 2/28/2012<br>ckniffin : 2/23/2012<br>carol : 11/2/2011<br>wwang : 8/10/2011<br>ckniffin : 8/1/2011<br>ckniffin : 4/8/2011<br>carol : 11/15/2010<br>alopez : 9/10/2010<br>alopez : 9/10/2010<br>alopez : 6/18/2010<br>alopez : 6/18/2010<br>alopez : 6/18/2010<br>terry : 6/14/2010<br>ckniffin : 11/10/2009<br>carol : 9/12/2008<br>wwang : 5/18/2006<br>ckniffin : 5/17/2006<br>tkritzer : 3/11/2004<br>cwells : 3/5/2002<br>cwells : 3/4/2002<br>cwells : 3/4/2002<br>terry : 2/28/2002<br>terry : 5/10/2001<br>mgross : 4/6/1999<br>mgross : 4/6/1999<br>carol : 4/5/1999<br>mimadm : 5/10/1995<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988<br>marie : 12/16/1986
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
|
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<strong>#</strong> 188050
|
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</span>
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</h3>
|
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1
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</span>
|
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</h3>
|
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</div>
|
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
THROMBOPHILIA DUE TO FACTOR 2 DEFECT<br />
|
|
VENOUS THROMBOSIS<br />
|
|
VENOUS THROMBOEMBOLISM
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
|
|
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>
|
|
<span class="h3 mim-font">
|
|
THROMBOSIS, PROTECTION AGAINST, 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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<p>
|
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 111293003;
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<strong>ICD10CM:</strong> I82.90;
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|
|
<strong>DO:</strong> 0080701, 0111907;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
1p36.22
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Thromboembolism, susceptibility to}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
188050
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MTHFR
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
607093
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
6p25.1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Venous thrombosis, protection against}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
188050
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
F13A1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
134570
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
10q25.3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Venous thromboembolism, susceptibility to}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
188050
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
HABP2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
603924
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
11p11.2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Thrombophilia 1 due to thrombin defect
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
188050
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
F2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
176930
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because susceptibility to thrombophilia (THPH1) can be conferred by heterozygous mutation in the thrombin gene (F2; 176930) on chromosome 11p11.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Thrombophilia is a multifactorial disorder of inappropriate clot formation resulting from an interaction of genetic, acquired, and circumstantial predisposing factors. Venous thromboembolism most commonly manifests as deep vein thrombosis, which may progress to pulmonary embolism if the clot dislodges and travels to the lung. Other manifestations include thromboses of the cerebral or visceral veins and recurrent pregnancy loss (summary by Seligsohn and Lubetsky, 2001 and Varga and Kujovich, 2012). </p><p><strong><em>Genetic Heterogeneity of Thrombophilia</em></strong></p><p>
|
|
THPH2 (188055) is caused by mutation in the F5 gene (612309) on chromosome 1q23; THPH3 (176860) and THPH4 (612304) are both caused by mutation in the PROC gene (612283) on 2q; THPH5 (612336) and THPH6 (614514) are caused by mutation in the PROS1 gene (176880) on 3q11; THPH7 (613118) is caused by mutation in the AT3 gene (107300) on 1q25; THPH8 (300807) is caused by mutation in the F9 gene (300746) on Xq27; THPH9 (612348) is associated with decreased release of tissue plasminogen activator (PLAT; 173370); THPH10 (612356) is caused by mutation in the HCF2 gene (142360) on 22q11; THPH11 (613116) is caused by mutation in the HRG gene (142640) on 3q27; and THPH12 (614486) is associated with variation in the THBD gene (188040) on 20p11.</p><p>Susceptibility to thrombosis has also been associated with variation in additional genes, including MTHFR (607093.0003); F13B (134580.0003); plasminogen activator inhibitor (SERPINE1; 173360); and several genes encoding fibrinogen (FGA, 134820; FGB, 134830; FGG, 134850). Variation in the SERPINA10 (see 605271.0001), KNG1 (612358) and HABP2 (603924) genes has also been reported.</p><p>Protection against venous thrombosis is associated with variation in the F13A1 gene (134570) on 6p25.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Miyawaki et al. (2012) reported a Japanese family, originating from Yukuhashi in the northern part of the Kyushu islands, with recurrent thrombophilia. The family had originally been reported by Sakai et al. (2001). There were at least 9 affected individuals spanning 3 generations. The proband had onset of recurrent deep vein thrombosis at age 11 years, and many affected family members had onset of deep vein thrombosis or pulmonary embolism before age 50 years. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
In a multistage study using a collection of 5,862 cases with venous thrombosis and 7,112 healthy controls, Morange et al. (2010) identified a locus on chromosome 6p24.1 as a susceptibility locus for venous thrombosis. The C allele of the single-nucleotide polymorphism (SNP) rs169713, which resides 92 kb 5-prime of the HIVEP1 gene (194540), was associated with an increased risk for venous thrombosis, with an odds ratio of 1.2 (95% confidence interval 1.13-1.27, P = 2.86 x 10(-9)). HIVEP1 codes for a protein that participates in the transcriptional regulation of inflammatory target genes by binding specific DNA sequences in their promoter and enhancer regions. Morange et al. (2010) concluded that these results identified a locus involved in venous thrombosis susceptibility that lies outside the traditional coagulation/fibrinolysis pathway. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Inheritance</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In general, thrombophilia is a complex (multifactorial) trait. The genes involved in complex traits are, for the most part, susceptibility genes, not genes that represent the primary cause of the disorder, as in the case of mendelian disorders. Mendelian disorders fit the model which might be referred to as mendelian/garrodian; complex, or multifactorial, traits follow the galtonian/fisherian model. Archibald Garrod's conception of metabolic blocks in a biochemical pathway caused by a mendelizing mutation obtains for the inborn errors of metabolism which he first described and named. Francis Galton (1822-1911) conceived the notion of multiple genetic factors involved in quantitative traits such as intelligence and stature. His disciples argued against the relevance of mendelism in relation to quantitative traits, indeed in relation to most inherited traits. Fisher (1918) showed that the behavior of quantitative traits is consistent with collaboration of multiple genetic factors, each behaving in a mendelian manner.</p><p>Schafer (1999) discussed venous thrombosis as a chronic and polygenic disease. </p><p>The transmission pattern of recurrent thrombophilia due to an F2 mutation in the Japanese family reported by Sakai et al. (2001) and Miyawaki et al. (2012) was consistent with autosomal dominant inheritance. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Management</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Kearon et al. (1999) presented evidence suggesting that patients with a first episode of idiopathic venous embolism should be treated with anticoagulant agents for longer than 3 months. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Poort et al. (1996) found that a common 20210G-A transition in the 3-prime untranslated region of the prothrombin gene (176930.0009) was associated with elevated plasma prothrombin levels and an increased risk of venous thrombosis. The SNP was found in 18% of probands of families with thrombosis, 6% of unselected consecutive patients with deep vein thrombosis, and 2% of healthy controls. </p><p>Chamouard et al. (1999) studied the frequency of the factor II 20210G-A mutation in 10 white European patients with idiopathic portal vein thrombosis. They studied 5 women and 5 men; mean age was 50.4 years. The frequency of the 20210G-A mutation was found to be 40% in idiopathic portal vein thrombosis compared with 4.8% in controls or patients with nonidiopathic portal vein thrombosis or deep vein thrombosis. </p><p>De Stefano et al. (1999) found that patients who were heterozygous for both factor V Leiden (1691G-A; 612309.0001) and prothrombin 20210G-A had a 2.6-fold higher risk of recurrent thrombosis than did carriers of factor V Leiden alone. Patients who were heterozygous for factor V Leiden had a risk of recurrent deep venous thrombosis that was similar to that among patients who had no known mutations in either factor II or factor V. </p><p>In a Spanish family, Corral et al. (1999) identified 3 subjects homozygous for the 20210A prothrombin mutation who were also heterozygous for factor V Leiden. The combination of the 2 mutations increased the risk of developing venous thrombotic episodes at an earlier age. However, even in association with factor V Leiden, the homozygous condition of the 20210A prothrombin mutation required additional risk factors to induce a thrombotic event. </p><p>In affected members of a Japanese family with recurrent thrombophilia, Miyawaki et al. (2012) identified a heterozygous mutation in the F2 gene (R596L; 176930.0015). The family had originally been reported by Sakai et al. (2001). In vitro ELISA studies showed that the mutant prothrombin did not form a complex with antithrombin (SERPINC1; 107300) even when heparin was added. A thrombin generation assay showed that the mutant prothrombin activity was lower than wildtype, but its inactivation in reconstituted plasma was exceedingly slow. Miyawaki et al. (2012) concluded that although the procoagulant activity of the R596L mutant prothrombin was somewhat impaired, the antithrombin:thrombin complex was considerably impaired, causing continued facilitation of coagulation. The findings indicated that R596L was a gain-of-function mutation resulting in the resistance to antithrombin, and conferring susceptibility to thrombosis. The mutant variant was termed 'prothrombin Yukuhashi.' </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chamouard, P., Pencreach, E., Maloisel, F., Grunebaum, L., Ardizzone, J.-F., Meyer, A., Gaub, M.-P., Goetz, J., Baumann, R., Uring-Lambert, B., Levy, S., Dufour, P., Hauptmann, G., Oudet, P.
|
|
<strong>Frequent factor II G20210A mutation in idiopathic portal vein thrombosis.</strong>
|
|
Gastroenterology 116: 144-148, 1999.
|
|
|
|
|
|
[PubMed: 9869612]
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|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0016-5085(99)70238-6]
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Corral, J., Zuazu-Jausoro, I., Rivera, J., Gonzalez-Conejero, R., Ferrer, F., Vicente, V.
|
|
<strong>Clinical and analytical relevance of the combination of prothrombin 20210A/A and factor V Leiden: results from a large family.</strong>
|
|
Brit. J. Haemat. 105: 560-563, 1999.
|
|
|
|
|
|
[PubMed: 10233438]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
De Stefano, V., Martinelli, I., Mannucci, P. M., Paciaroni, K., Chiusolo, P., Casorelli, I., Rossi, E., Leone, G.
|
|
<strong>The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation.</strong>
|
|
New Eng. J. Med. 341: 801-806, 1999.
|
|
|
|
|
|
[PubMed: 10477778]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM199909093411104]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fisher, R. A.
|
|
<strong>Correlation between relatives on the supposition of mendelian inheritance.</strong>
|
|
Trans. Roy. Soc. Edinburgh 52: 399-433, 1918.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kearon, C., Gent, M., Hirsh, J., Weitz, J., Kovacs, M. J., Anderson, D. R., Turpie, A. G., Green, D., Ginsberg, J. S., Wells, P., MacKinnon, B., Julian, J. A.
|
|
<strong>A comparison of three months of anticoagulation with extended anticoagulation for a first episode of idiopathic venous thromboembolism.</strong>
|
|
New Eng. J. Med. 340: 901-907, 1999. Note: Erratum: New Eng. J. Med. 341: 298 only, 1999.
|
|
|
|
|
|
[PubMed: 10089183]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM199903253401201]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Miyawaki, Y., Suzuki, A., Fujita, J., Maki, A., Okuyama, E., Murata, M., Takagi, A., Murate, T., Kunishima, S., Sakai, M., Okamoto, K., Matsushita, T., Naoe, T., Saito, H., Kojima, T.
|
|
<strong>Thrombosis from a prothrombin mutation conveying antithrombin resistance.</strong>
|
|
New Eng. J. Med. 366: 2390-2396, 2012.
|
|
|
|
|
|
[PubMed: 22716977]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMoa1201994]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Morange, P.-E., Bezemer, I., Saut, N., Bare, L., Burgos, G., Brocheton, J., Durand, H., Biron-Andreani, C., Schved, J.-F., Pernod, G., Galan, P., Drouet, L., and 17 others.
|
|
<strong>A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1.</strong>
|
|
Am. J. Hum. Genet. 86: 592-595, 2010. Note: Erratum: Am. J. Hum. Genet. 86: 655 only, 2010.
|
|
|
|
|
|
[PubMed: 20226436]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2010.02.011]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Poort, S. R., Rosendaal, F. R., Reitsma, P. H., Bertina, R. M.
|
|
<strong>A common genetic variation in the 3-prime-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis.</strong>
|
|
Blood 88: 3698-3703, 1996.
|
|
|
|
|
|
[PubMed: 8916933]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sakai, M., Urano, H., Iinuma, A., Okamoto, K., Ohsato, K., Shirahata, A.
|
|
<strong>A family with multiple thrombosis including infancy occurrence.</strong>
|
|
J. UOEH 23: 297-305, 2001. Note: Article in Japanese.
|
|
|
|
|
|
[PubMed: 11570053]
|
|
|
|
|
|
[Full Text: https://doi.org/10.7888/juoeh.23.297]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schafer, A. I.
|
|
<strong>Venous thrombosis as a chronic disease. (Editorial)</strong>
|
|
New Eng. J. Med. 340: 955-956, 1999.
|
|
|
|
|
|
[PubMed: 10089190]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM199903253401209]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Seligsohn, U., Lubetsky, A.
|
|
<strong>Genetic susceptibility to venous thrombosis.</strong>
|
|
New Eng. J. Med. 344: 1222-1231, 2001.
|
|
|
|
|
|
[PubMed: 11309638]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM200104193441607]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Varga, E. A., Kujovich, J. L.
|
|
<strong>Management of inherited thrombophilia: guide for genetics professionals.</strong>
|
|
Clin. Genet. 81: 7-17, 2012.
|
|
|
|
|
|
[PubMed: 21707594]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.2011.01746.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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Cassandra L. Kniffin - updated : 6/20/2012<br>Cassandra L. Kniffin - updated : 2/23/2012<br>Ada Hamosh - updated : 6/14/2010<br>Victor A. McKusick - updated : 2/28/2002<br>Victor A. McKusick - updated : 5/10/2001<br>Victor A. McKusick - updated : 4/5/1999
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Victor A. McKusick : 6/2/1986
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carol : 11/02/2017<br>carol : 06/09/2017<br>carol : 11/25/2015<br>carol : 6/17/2015<br>terry : 3/14/2013<br>carol : 6/20/2012<br>ckniffin : 6/20/2012<br>carol : 3/1/2012<br>carol : 2/28/2012<br>ckniffin : 2/23/2012<br>carol : 11/2/2011<br>wwang : 8/10/2011<br>ckniffin : 8/1/2011<br>ckniffin : 4/8/2011<br>carol : 11/15/2010<br>alopez : 9/10/2010<br>alopez : 9/10/2010<br>alopez : 6/18/2010<br>alopez : 6/18/2010<br>alopez : 6/18/2010<br>terry : 6/14/2010<br>ckniffin : 11/10/2009<br>carol : 9/12/2008<br>wwang : 5/18/2006<br>ckniffin : 5/17/2006<br>tkritzer : 3/11/2004<br>cwells : 3/5/2002<br>cwells : 3/4/2002<br>cwells : 3/4/2002<br>terry : 2/28/2002<br>terry : 5/10/2001<br>mgross : 4/6/1999<br>mgross : 4/6/1999<br>carol : 4/5/1999<br>mimadm : 5/10/1995<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988<br>marie : 12/16/1986
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