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<title>
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Entry
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- #614486 - THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT; THPH12
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- OMIM
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<span class="h4">#614486</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/614486"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS188050"> <strong>Phenotypic Series</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="#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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<div><a href="https://clinicaltrials.gov/search?cond=(THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT) OR (THBD)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=23331&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=614486[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=436169" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111908" 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/614486" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111908" 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>
|
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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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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1197595004<br />
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<strong>ORPHA:</strong> 436169<br />
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<strong>DO:</strong> 0111908<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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614486
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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 THROMBOMODULIN DEFECT; THPH12
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</h3>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/20/145?start=-3&limit=10&highlight=145">
|
|
20p11.21
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Thrombophilia 12 due to thrombomodulin defect
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614486"> 614486 </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>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
THBD
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188040"> 188040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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<div>
|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/614486" 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>
|
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|
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|
|
<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>
|
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|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/614486" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/614486" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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|
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<div>
|
|
<p />
|
|
</div>
|
|
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
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|
|
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|
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<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> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Myocardial infarction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22298006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22298006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I22</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I21</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2926063&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2926063</a>, <a href="https://bioportal.bioontology.org/search?q=C0027051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001658" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001658</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001658" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001658</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Deep venous thrombosis <span class="mim-feature-ids hidden">[SNOMEDCT: <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> 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 /> -
|
|
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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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">
|
|
|
|
- Sagittal sinus thrombosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192760003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192760003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70607008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70607008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338575&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338575</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in thrombomodulin (THBD, <a href="/entry/188040#0002">188040.0002</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
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>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612348"> THPH9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612348"> 612348 </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">
|
|
<a href="/entry/188050"> {Venous 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/603924"> HABP2 </a>
|
|
</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">
|
|
<a href="/entry/188050"> Thrombophilia 1 due to thrombin defect </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/176930"> F2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176930"> 176930 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/145?start=-3&limit=10&highlight=145"> 20p11.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614486"> Thrombophilia 12 due to thrombomodulin defect </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/614486"> 614486 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188040"> THBD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188040"> 188040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/67?start=-3&limit=10&highlight=67"> 22q11.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612356"> Thrombophilia 10 due to heparin cofactor II 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/612356"> 612356 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142360"> HCF2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142360"> 142360 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/739?start=-3&limit=10&highlight=739"> Xq27.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300807"> {Deep venous thrombosis, protection against} </a>
|
|
</span>
|
|
</td>
|
|
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<p>A number sign (#) is used with this entry because of evidence that thrombophilia may result from variation in the gene encoding thrombomodulin (THBD; <a href="/entry/188040">188040</a>) on chromosome 20p11.</p>
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<p>The role of thrombomodulin in thrombosis is controversial. Although there have been several reports of THBD mutations in patients with venous thrombosis, clear functional evidence for the pathogenicity of these mutations is lacking. In a review, <a href="#1" class="mim-tip-reference" title="Anastasiou, G., Gialeraki, A., Merkouri, E., Politou, M., Travlou, A. <strong>Thrombomodulin as a regulator of the anticoagulant pathway: implication in the development of thrombosis.</strong> Blood Coagul. Fibrinolysis 23: 1-10, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22036808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22036808</a>] [<a href="https://doi.org/10.1097/MBC.0b013e32834cb271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22036808">Anastasiou et al. (2012)</a> noted that thrombomodulin has a major role in capillary beds and that THBD variation may not be associated with large vessel thrombosis. It is likely that genetic or environmental risk factors in addition to THBD variation are involved in the pathogenesis of venous thrombosis. However, variation in the THBD gene may be associated with increased risk for arterial thrombosis and myocardial infarction. This association may be attributed to the fact that thrombomodulin can modulate inflammatory processes, complement activity, and fibrinolysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22036808" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Ohlin, A.-K., Marlar, R. A. <strong>The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease.</strong> Blood 85: 330-336, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7811989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7811989</a>]" pmid="7811989">Ohlin and Marlar (1995)</a> reported a 45-year-old Hispanic man with thrombophilia who developed a pulmonary embolism. He had decreased soluble THBD fragments in serum compared to controls. His mother had died suddenly, apparently of pulmonary embolus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7811989" 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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In a 45-year-old Hispanic man with thrombophilia and pulmonary embolism, <a href="#9" class="mim-tip-reference" title="Ohlin, A.-K., Marlar, R. A. <strong>The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease.</strong> Blood 85: 330-336, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7811989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7811989</a>]" pmid="7811989">Ohlin and Marlar (1995)</a> identified a heterozygous mutation in the THBD gene (D468Y; <a href="/entry/188040#0001">188040.0001</a>). His 23-year-old son, who had no history of thrombosis, was also heterozygous for the mutation. <a href="#3" class="mim-tip-reference" title="Faioni, E. M., Franchi, F., Castaman, G., Biguzzi, E., Rodeghiero, F. <strong>Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia.</strong> Brit. J. Haemat. 118: 595-599, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12139752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12139752</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2002.03644.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12139752">Faioni et al. (2002)</a> identified a heterozygous D468Y substitution in 1 of 12 patients with thrombophilia and low serum THBD levels. The patient was a 52-year-old woman with deep vein thrombosis of a lower limb and a stroke. However, functional studies by <a href="#8" class="mim-tip-reference" title="Nakazawa, F., Koyama, T., Saito, T., Shibakura, M., Yoshinaga, H., Chung, D. H., Kamiyama, R., Hirosawa, S. <strong>Thrombomodulin with the asp468tyr mutation is expressed on the cell surface with normal cofactor activity for protein C activation.</strong> Brit. J. Haemat. 106: 416-420, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10460600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10460600</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1999.01567.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10460600">Nakazawa et al. (1999)</a> and <a href="#6" class="mim-tip-reference" title="Kunz, G., Ohlin, A.-K., Adami, A., Zoller, B., Svensson, P., Lane, D. A. <strong>Naturally occurring mutations in the thrombomodulin gene leading to impaired expression and function.</strong> Blood 99: 3646-3653, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11986219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11986219</a>] [<a href="https://doi.org/10.1182/blood.v99.10.3646" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11986219">Kunz et al. (2002)</a> showed that the D468Y variant protein had normal expression and function, casting doubt on its pathogenicity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10460600+7811989+11986219+12139752" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Franchi, F., Biguzzi, E., Cetin, I., Facchetti, F., Radaelli, T., Bozzo, M., Pardi, G., Faioni, E. M. <strong>Mutations in the thrombomodulin and endothelial protein C receptor genes in women with late fetal loss.</strong> Brit. J. Haemat. 114: 641-646, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11552992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11552992</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2001.02964.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11552992">Franchi et al. (2001)</a> found 5 mutations in the THBD gene among 95 women with unexplained late fetal loss (after 20 weeks), and 3 THBD mutations among 236 controls. Two of the patients and 1 control had mutations in the EPCR gene (<a href="/entry/600646">600646</a>). The relative risk for late fetal loss for carriers of mutation in either the THBD or EPCR gene was estimated by an odds ratio of 4.0. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11552992" 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="Faioni, E. M., Franchi, F., Castaman, G., Biguzzi, E., Rodeghiero, F. <strong>Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia.</strong> Brit. J. Haemat. 118: 595-599, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12139752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12139752</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2002.03644.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12139752">Faioni et al. (2002)</a> examined 38 patients with recurrent, documented thrombotic events at a young age and a positive family history. One patient with thrombophilia was found to have a heterozygous -33G-A transition (<a href="/entry/188060#0004">188060.0004</a>). This patient had a deep venous thrombosis of a lower limb at age 39 years, followed by 3 recurrent events at age 40, including a pulmonary embolism. The allelic frequency of an ala455-to-val polymorphism (A455V; <a href="/entry/188040#0008">188040.0008</a>) was identical in patients and controls. <a href="#3" class="mim-tip-reference" title="Faioni, E. M., Franchi, F., Castaman, G., Biguzzi, E., Rodeghiero, F. <strong>Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia.</strong> Brit. J. Haemat. 118: 595-599, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12139752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12139752</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2002.03644.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12139752">Faioni et al. (2002)</a> concluded that mutations in the THBD gene are a very rare cause of severe thrombophilia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12139752" 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 woman with recurrent deep venous thrombosis beginning at age 76 who had a myocardial infarction at age 90, <a href="#6" class="mim-tip-reference" title="Kunz, G., Ohlin, A.-K., Adami, A., Zoller, B., Svensson, P., Lane, D. A. <strong>Naturally occurring mutations in the thrombomodulin gene leading to impaired expression and function.</strong> Blood 99: 3646-3653, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11986219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11986219</a>] [<a href="https://doi.org/10.1182/blood.v99.10.3646" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11986219">Kunz et al. (2002)</a> identified a heterozygous mutation in the THBD gene (R385S; <a href="/entry/188040#0009">188040.0009</a>). In vitro functional expression studies showed that the mutant protein had reduced expression (50% compared to wildtype), as well as significantly decreased cofactor activity with increased Km values for protein C activation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11986219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the Chinese population, <a href="#10" class="mim-tip-reference" title="Tang, L., Wang, H.-F., Lu, X., Jian, X.-R., Jin, B., Zheng, H., Li, Y.-Q., Wang, Q.-Y., Wu, T.-C., Guo, H., Liu, H., Guo, T., Yu, J.-M., Yang, R., Yang, Y., Hu, Y. <strong>Common genetic risk factors for venous thrombosis in the Chinese population.</strong> Am. J. Hum. Genet. 92: 177-187, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23332921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23332921</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23332921[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.12.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23332921">Tang et al. (2013)</a> identified a variant, c.-151G-to-T (<a href="/entry/188040#0010">188040.0010</a>), in the 5-prime UTR of the THBD gene that significantly reduced the gene expression and could cause a predisposition to venous thrombosis. Results from a case-control study indicated that heterozygotes had a 2.80-fold (95% confidence interval = 1.88-4.29) increased risk of venous thrombosis. In a family analysis involving 176 first-degree relatives from 38 index families, first-degree relatives with this variant had a 3.42-fold increased risk of venous thrombosis, and their probability of remaining thrombosis-free was significantly lower than that of relatives without the variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23332921" 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>Myocardial Infarction</em></strong></p><p>
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In a study of 560 men with a first myocardial infarction before the age of 70, <a href="#2" class="mim-tip-reference" title="Doggen, C. J. M., Kunz, G., Rosendaal, F. R., Lane, D. A., Vos, H. L., Stubbs, P. J., Cats, V. M., Ireland, H. <strong>A mutation in the thrombomodulin gene, 127G to A coding for ala25-to-thr, and the risk of myocardial infarction in men.</strong> Thromb. Haemost. 80: 743-748, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843165</a>]" pmid="9843165">Doggen et al. (1998)</a> found that 12 were carriers of an A25T substitution in the THBD gene (<a href="/entry/188040#0002">188040.0002</a>). In a control group of 646 men, frequency-matched for age, 7 were carriers of the A25T substitution. The allelic frequencies were 1.07% among patients and 0.54% among controls, suggesting an odds ratio of 2.0. In patients younger than 50 years, the predicted risk was almost 7 times increased (odds ratio, 6.5). If smoking or a metabolic risk factor was present, the predicted risk increased to 9-fold and 4-fold, respectively. However, <a href="#6" class="mim-tip-reference" title="Kunz, G., Ohlin, A.-K., Adami, A., Zoller, B., Svensson, P., Lane, D. A. <strong>Naturally occurring mutations in the thrombomodulin gene leading to impaired expression and function.</strong> Blood 99: 3646-3653, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11986219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11986219</a>] [<a href="https://doi.org/10.1182/blood.v99.10.3646" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11986219">Kunz et al. (2002)</a> found no abnormality in cell surface expression or thrombomodulin cofactor function in studies of the A25T protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9843165+11986219" 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>Among 320 Chinese patients with coronary artery disease and 200 matched controls, <a href="#7" class="mim-tip-reference" title="Li, Y.-H., Chen, J.-H., Wu, H.-L., Shi, G.-Y., Huang, H.-C., Chao, T.-H., Tsai, W.-C., Tsai, L.-M., Guo, H.-R., Wu, W.-S., Chen, Z.-C. <strong>G-33A mutation in the promoter region of thrombomodulin gene and its association with coronary artery disease and plasma soluble thrombomodulin levels.</strong> Am. J. Cardiol. 85: 8-12, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11078228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11078228</a>] [<a href="https://doi.org/10.1016/s0002-9149(99)00597-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11078228">Li et al. (2000)</a> found a significant association between a promoter variant in the THBD gene (-33G-A; <a href="/entry/188040#0004">188040.0004</a>) and disease. The GA and AA genotypes were found in 23.8% of patients compared to 15.5% of controls (OR of 1.70, p = 0.031). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11078228" 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 patient with myocardial infarction, <a href="#5" class="mim-tip-reference" title="Kunz, G., Ireland, H. A., Stubbs, P. J., Kahan, M., Coulton, G. C., Lane, D. A. <strong>Identification and characterization of a thrombomodulin gene mutation coding for an elongated protein with reduced expression in a kindred with myocardial infarction.</strong> Blood 95: 569-576, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10627464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10627464</a>]" pmid="10627464">Kunz et al. (2000)</a> found a frameshift mutation in the THBD gene (<a href="/entry/188040#0003">188040.0003</a>). Pedigree analysis suggested that a brother who had suffered a fatal myocardial infarction probably also carried the mutation. Known risk factors for MI, including smoking, increased blood pressure, elevated triglycerides, and elevated cholesterol, were present in the proband and other family members. Carriers of the mutant allele expressed significantly lower amounts of thrombomodulin on the surface of their monocytes and lower levels of soluble thrombomodulin in plasma. Reduced expression was observed in COS-7 cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10627464" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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[<a href="https://doi.org/10.1097/MBC.0b013e32834cb271" target="_blank">Full Text</a>]
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Faioni, E. M., Franchi, F., Castaman, G., Biguzzi, E., Rodeghiero, F.
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<strong>Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia.</strong>
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Brit. J. Haemat. 118: 595-599, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12139752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12139752</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12139752" 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/10.1046/j.1365-2141.2002.03644.x" target="_blank">Full Text</a>]
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Franchi, F., Biguzzi, E., Cetin, I., Facchetti, F., Radaelli, T., Bozzo, M., Pardi, G., Faioni, E. M.
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<strong>Mutations in the thrombomodulin and endothelial protein C receptor genes in women with late fetal loss.</strong>
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Brit. J. Haemat. 114: 641-646, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11552992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11552992</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11552992" 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/10.1046/j.1365-2141.2001.02964.x" target="_blank">Full Text</a>]
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Kunz, G., Ireland, H. A., Stubbs, P. J., Kahan, M., Coulton, G. C., Lane, D. A.
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<strong>Identification and characterization of a thrombomodulin gene mutation coding for an elongated protein with reduced expression in a kindred with myocardial infarction.</strong>
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Blood 95: 569-576, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10627464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10627464</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10627464" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kunz, G., Ohlin, A.-K., Adami, A., Zoller, B., Svensson, P., Lane, D. A.
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<strong>Naturally occurring mutations in the thrombomodulin gene leading to impaired expression and function.</strong>
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Blood 99: 3646-3653, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11986219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11986219</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11986219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Li, Y.-H., Chen, J.-H., Wu, H.-L., Shi, G.-Y., Huang, H.-C., Chao, T.-H., Tsai, W.-C., Tsai, L.-M., Guo, H.-R., Wu, W.-S., Chen, Z.-C.
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<strong>G-33A mutation in the promoter region of thrombomodulin gene and its association with coronary artery disease and plasma soluble thrombomodulin levels.</strong>
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Am. J. Cardiol. 85: 8-12, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11078228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11078228</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11078228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Nakazawa, F., Koyama, T., Saito, T., Shibakura, M., Yoshinaga, H., Chung, D. H., Kamiyama, R., Hirosawa, S.
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<strong>Thrombomodulin with the asp468tyr mutation is expressed on the cell surface with normal cofactor activity for protein C activation.</strong>
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Brit. J. Haemat. 106: 416-420, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10460600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10460600</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10460600" 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/10.1046/j.1365-2141.1999.01567.x" target="_blank">Full Text</a>]
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<strong>The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease.</strong>
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Blood 85: 330-336, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7811989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7811989</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7811989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Tang, L., Wang, H.-F., Lu, X., Jian, X.-R., Jin, B., Zheng, H., Li, Y.-Q., Wang, Q.-Y., Wu, T.-C., Guo, H., Liu, H., Guo, T., Yu, J.-M., Yang, R., Yang, Y., Hu, Y.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23332921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23332921</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23332921[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23332921" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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carol : 3/1/2012<br>carol : 2/28/2012<br>ckniffin : 2/23/2012
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THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT; THPH12
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<strong>SNOMEDCT:</strong> 1197595004;
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<strong>ORPHA:</strong> 436169;
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<strong>DO:</strong> 0111908;
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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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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Inheritance
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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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20p11.21
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<span class="mim-font">
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Thrombophilia 12 due to thrombomodulin defect
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<span class="mim-font">
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614486
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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THBD
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<span class="mim-font">
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188040
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that thrombophilia may result from variation in the gene encoding thrombomodulin (THBD; 188040) on chromosome 20p11.</p>
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<strong>Description</strong>
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<p>The role of thrombomodulin in thrombosis is controversial. Although there have been several reports of THBD mutations in patients with venous thrombosis, clear functional evidence for the pathogenicity of these mutations is lacking. In a review, Anastasiou et al. (2012) noted that thrombomodulin has a major role in capillary beds and that THBD variation may not be associated with large vessel thrombosis. It is likely that genetic or environmental risk factors in addition to THBD variation are involved in the pathogenesis of venous thrombosis. However, variation in the THBD gene may be associated with increased risk for arterial thrombosis and myocardial infarction. This association may be attributed to the fact that thrombomodulin can modulate inflammatory processes, complement activity, and fibrinolysis. </p>
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Ohlin and Marlar (1995) reported a 45-year-old Hispanic man with thrombophilia who developed a pulmonary embolism. He had decreased soluble THBD fragments in serum compared to controls. His mother had died suddenly, apparently of pulmonary embolus. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p><strong><em>Venous Thrombosis</em></strong></p><p>
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In a 45-year-old Hispanic man with thrombophilia and pulmonary embolism, Ohlin and Marlar (1995) identified a heterozygous mutation in the THBD gene (D468Y; 188040.0001). His 23-year-old son, who had no history of thrombosis, was also heterozygous for the mutation. Faioni et al. (2002) identified a heterozygous D468Y substitution in 1 of 12 patients with thrombophilia and low serum THBD levels. The patient was a 52-year-old woman with deep vein thrombosis of a lower limb and a stroke. However, functional studies by Nakazawa et al. (1999) and Kunz et al. (2002) showed that the D468Y variant protein had normal expression and function, casting doubt on its pathogenicity. </p><p>Franchi et al. (2001) found 5 mutations in the THBD gene among 95 women with unexplained late fetal loss (after 20 weeks), and 3 THBD mutations among 236 controls. Two of the patients and 1 control had mutations in the EPCR gene (600646). The relative risk for late fetal loss for carriers of mutation in either the THBD or EPCR gene was estimated by an odds ratio of 4.0. </p><p>Faioni et al. (2002) examined 38 patients with recurrent, documented thrombotic events at a young age and a positive family history. One patient with thrombophilia was found to have a heterozygous -33G-A transition (188060.0004). This patient had a deep venous thrombosis of a lower limb at age 39 years, followed by 3 recurrent events at age 40, including a pulmonary embolism. The allelic frequency of an ala455-to-val polymorphism (A455V; 188040.0008) was identical in patients and controls. Faioni et al. (2002) concluded that mutations in the THBD gene are a very rare cause of severe thrombophilia. </p><p>In a woman with recurrent deep venous thrombosis beginning at age 76 who had a myocardial infarction at age 90, Kunz et al. (2002) identified a heterozygous mutation in the THBD gene (R385S; 188040.0009). In vitro functional expression studies showed that the mutant protein had reduced expression (50% compared to wildtype), as well as significantly decreased cofactor activity with increased Km values for protein C activation. </p><p>In the Chinese population, Tang et al. (2013) identified a variant, c.-151G-to-T (188040.0010), in the 5-prime UTR of the THBD gene that significantly reduced the gene expression and could cause a predisposition to venous thrombosis. Results from a case-control study indicated that heterozygotes had a 2.80-fold (95% confidence interval = 1.88-4.29) increased risk of venous thrombosis. In a family analysis involving 176 first-degree relatives from 38 index families, first-degree relatives with this variant had a 3.42-fold increased risk of venous thrombosis, and their probability of remaining thrombosis-free was significantly lower than that of relatives without the variant. </p><p><strong><em>Myocardial Infarction</em></strong></p><p>
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In a study of 560 men with a first myocardial infarction before the age of 70, Doggen et al. (1998) found that 12 were carriers of an A25T substitution in the THBD gene (188040.0002). In a control group of 646 men, frequency-matched for age, 7 were carriers of the A25T substitution. The allelic frequencies were 1.07% among patients and 0.54% among controls, suggesting an odds ratio of 2.0. In patients younger than 50 years, the predicted risk was almost 7 times increased (odds ratio, 6.5). If smoking or a metabolic risk factor was present, the predicted risk increased to 9-fold and 4-fold, respectively. However, Kunz et al. (2002) found no abnormality in cell surface expression or thrombomodulin cofactor function in studies of the A25T protein. </p><p>Among 320 Chinese patients with coronary artery disease and 200 matched controls, Li et al. (2000) found a significant association between a promoter variant in the THBD gene (-33G-A; 188040.0004) and disease. The GA and AA genotypes were found in 23.8% of patients compared to 15.5% of controls (OR of 1.70, p = 0.031). </p><p>In a patient with myocardial infarction, Kunz et al. (2000) found a frameshift mutation in the THBD gene (188040.0003). Pedigree analysis suggested that a brother who had suffered a fatal myocardial infarction probably also carried the mutation. Known risk factors for MI, including smoking, increased blood pressure, elevated triglycerides, and elevated cholesterol, were present in the proband and other family members. Carriers of the mutant allele expressed significantly lower amounts of thrombomodulin on the surface of their monocytes and lower levels of soluble thrombomodulin in plasma. Reduced expression was observed in COS-7 cells. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Anastasiou, G., Gialeraki, A., Merkouri, E., Politou, M., Travlou, A.
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<strong>Thrombomodulin as a regulator of the anticoagulant pathway: implication in the development of thrombosis.</strong>
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Blood Coagul. Fibrinolysis 23: 1-10, 2012.
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[PubMed: 22036808]
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[Full Text: https://doi.org/10.1097/MBC.0b013e32834cb271]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Doggen, C. J. M., Kunz, G., Rosendaal, F. R., Lane, D. A., Vos, H. L., Stubbs, P. J., Cats, V. M., Ireland, H.
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<strong>A mutation in the thrombomodulin gene, 127G to A coding for ala25-to-thr, and the risk of myocardial infarction in men.</strong>
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Thromb. Haemost. 80: 743-748, 1998.
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[PubMed: 9843165]
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<li>
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<p class="mim-text-font">
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Faioni, E. M., Franchi, F., Castaman, G., Biguzzi, E., Rodeghiero, F.
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<strong>Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia.</strong>
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Brit. J. Haemat. 118: 595-599, 2002.
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[PubMed: 12139752]
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[Full Text: https://doi.org/10.1046/j.1365-2141.2002.03644.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Franchi, F., Biguzzi, E., Cetin, I., Facchetti, F., Radaelli, T., Bozzo, M., Pardi, G., Faioni, E. M.
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<strong>Mutations in the thrombomodulin and endothelial protein C receptor genes in women with late fetal loss.</strong>
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Brit. J. Haemat. 114: 641-646, 2001.
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[PubMed: 11552992]
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[Full Text: https://doi.org/10.1046/j.1365-2141.2001.02964.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kunz, G., Ireland, H. A., Stubbs, P. J., Kahan, M., Coulton, G. C., Lane, D. A.
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<strong>Identification and characterization of a thrombomodulin gene mutation coding for an elongated protein with reduced expression in a kindred with myocardial infarction.</strong>
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Blood 95: 569-576, 2000.
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[PubMed: 10627464]
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<li>
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<p class="mim-text-font">
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Kunz, G., Ohlin, A.-K., Adami, A., Zoller, B., Svensson, P., Lane, D. A.
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<strong>Naturally occurring mutations in the thrombomodulin gene leading to impaired expression and function.</strong>
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Blood 99: 3646-3653, 2002.
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[PubMed: 11986219]
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[Full Text: https://doi.org/10.1182/blood.v99.10.3646]
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</li>
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<li>
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<p class="mim-text-font">
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Li, Y.-H., Chen, J.-H., Wu, H.-L., Shi, G.-Y., Huang, H.-C., Chao, T.-H., Tsai, W.-C., Tsai, L.-M., Guo, H.-R., Wu, W.-S., Chen, Z.-C.
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<strong>G-33A mutation in the promoter region of thrombomodulin gene and its association with coronary artery disease and plasma soluble thrombomodulin levels.</strong>
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Am. J. Cardiol. 85: 8-12, 2000.
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[PubMed: 11078228]
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[Full Text: https://doi.org/10.1016/s0002-9149(99)00597-4]
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</li>
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<li>
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<p class="mim-text-font">
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Nakazawa, F., Koyama, T., Saito, T., Shibakura, M., Yoshinaga, H., Chung, D. H., Kamiyama, R., Hirosawa, S.
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<strong>Thrombomodulin with the asp468tyr mutation is expressed on the cell surface with normal cofactor activity for protein C activation.</strong>
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Brit. J. Haemat. 106: 416-420, 1999.
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[PubMed: 10460600]
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[Full Text: https://doi.org/10.1046/j.1365-2141.1999.01567.x]
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<li>
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<p class="mim-text-font">
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Ohlin, A.-K., Marlar, R. A.
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<strong>The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease.</strong>
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Blood 85: 330-336, 1995.
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[PubMed: 7811989]
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<li>
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<p class="mim-text-font">
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Tang, L., Wang, H.-F., Lu, X., Jian, X.-R., Jin, B., Zheng, H., Li, Y.-Q., Wang, Q.-Y., Wu, T.-C., Guo, H., Liu, H., Guo, T., Yu, J.-M., Yang, R., Yang, Y., Hu, Y.
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<strong>Common genetic risk factors for venous thrombosis in the Chinese population.</strong>
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Am. J. Hum. Genet. 92: 177-187, 2013.
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[PubMed: 23332921]
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.12.013]
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<span class="text-nowrap mim-text-font">
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Contributors:
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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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Ada Hamosh - updated : 06/25/2014
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 2/20/2012
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Edit History:
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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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alopez : 06/25/2014<br>carol : 3/1/2012<br>carol : 2/28/2012<br>ckniffin : 2/23/2012
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