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<title>
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Entry
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- #300807 - THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8
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- OMIM
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<span class="h4">#300807</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="/phenotypicSeries/PS188050"> <strong>Phenotypic Series</strong> </a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT) OR (F9)" 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=13896&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.diseaseinfosearch.org/x/9399" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300807[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=98879" 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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</a>
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</span>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111899" 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/300807" 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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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 98879<br />
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<strong>DO:</strong> 0111899<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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300807
|
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</span>
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</span>
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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, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8
|
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</span>
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</h3>
|
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</div>
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<div>
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<br />
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
|
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<span class="mim-font">
|
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Other entities represented in this entry:
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</span>
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</p>
|
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</div>
|
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<div>
|
|
<span class="h3 mim-font">
|
|
DEEP VENOUS THROMBOSIS, PROTECTION AGAINST, INCLUDED
|
|
</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>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
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</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/739?start=-3&limit=10&highlight=739">
|
|
Xq27.1
|
|
</a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Deep venous thrombosis, protection against}
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300807"> 300807 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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">
|
|
F9
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300746"> 300746 </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">
|
|
Thrombophilia 8, X-linked, due to factor IX defect
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300807"> 300807 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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">
|
|
F9
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300746"> 300746 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
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|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/300807" 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/300807" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300807" 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">
|
|
|
|
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Increased factor IX activity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5421578&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5421578</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033061" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033061</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033061" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033061</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Based on report of 1 family (last curated July 2020)<br />
|
|
|
|
</span>
|
|
</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 the coagulation factor IX gene (F9, <a href="/entry/300746#0112">300746.0112</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"> Thrombophilia 8, X-linked, due to factor IX defect </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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/300807"> 300807 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300746"> F9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300746"> 300746 </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>
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<p>A number sign (#) is used with this entry because X-linked thrombophilia can be caused by a gain-of-function mutation in the gene encoding factor IX (F9; <a href="/entry/300746">300746</a>) on Xq27.1.</p>
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<p><a href="#4" class="mim-tip-reference" title="Simioni, P., Tormene, D., Tognin, G., Gavasso, S., Bulato, C., Iacobelli, N. P., Finn, J. D., Spiezia, L., Radu, C., Arruda, V. R. <strong>X-linked thrombophilia with a mutant factor IX (factor IX Padua).</strong> New Eng. J. Med. 361: 1671-1675, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19846852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19846852</a>] [<a href="https://doi.org/10.1056/NEJMoa0904377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19846852">Simioni et al. (2009)</a> reported a 21-year-old Italian man who developed a deep venous thrombosis in the right leg after mild muscular stretching. Treatment with heparin and warfarin resulted in resolution and no further thrombosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19846852" 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 study of 473 healthy controls, <a href="#5" class="mim-tip-reference" title="van Hylckama Vlieg, A., van der Linden, I. K., Bertina, R. M., Rosendaal, F. R. <strong>High levels of factor IX increase the risk of venous thrombosis.</strong> Blood 95: 3678-3682, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10845896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10845896</a>]" pmid="10845896">van Hylckama Vlieg et al. (2000)</a> found that factor IX levels, as measured by enzyme-linked immunosorbent assay (ELISA), increased with age after the age of 55 years. Factor IX levels were substantially higher among 153 premenopausal women who used oral contraceptives. Ten percent of healthy control individuals had factor IX levels about 129 U/dl (90th percentile). More than 20% of 426 patients with deep venous thrombosis (DVT) had factor IX levels exceeding this cutoff point. The results indicated that individuals with factor IX levels above 129 U/dl have a 2.3-fold increased risk of developing a DVT compared to those with factor IX levels below this cutoff point. The risk of thrombosis increased with plasma levels of factor IX, indicating a dose-response effect. The risk was not affected by adjustment for possible confounders (age, sex, oral contraceptive use, and high levels of other coagulation factors). The risk for DVT was higher in women (odds ratio of 2.6) than in men (odds ratio of 1.9), and was highest in the group of premenopausal women not using oral contraceptives (odds ratio of 12.4). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10845896" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The findings in the family reported by <a href="#4" class="mim-tip-reference" title="Simioni, P., Tormene, D., Tognin, G., Gavasso, S., Bulato, C., Iacobelli, N. P., Finn, J. D., Spiezia, L., Radu, C., Arruda, V. R. <strong>X-linked thrombophilia with a mutant factor IX (factor IX Padua).</strong> New Eng. J. Med. 361: 1671-1675, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19846852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19846852</a>] [<a href="https://doi.org/10.1056/NEJMoa0904377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19846852">Simioni et al. (2009)</a> were consistent with X-linked recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19846852" 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 an Italian man with deep venous thrombosis of the femoral-popliteal veins, <a href="#4" class="mim-tip-reference" title="Simioni, P., Tormene, D., Tognin, G., Gavasso, S., Bulato, C., Iacobelli, N. P., Finn, J. D., Spiezia, L., Radu, C., Arruda, V. R. <strong>X-linked thrombophilia with a mutant factor IX (factor IX Padua).</strong> New Eng. J. Med. 361: 1671-1675, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19846852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19846852</a>] [<a href="https://doi.org/10.1056/NEJMoa0904377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19846852">Simioni et al. (2009)</a> identified a hemizygous mutation in the F9 gene (R338L; <a href="/entry/300746#0112">300746.0112</a>). Coagulation studies showed that he had normal levels of F9 antigen, but very high levels of F9 activity (776% of control values). His 11-year-old brother and mother, who were hemizygous and heterozygous for the mutation, respectively, also had normal F9 antigen levels and increased F9 activity levels (551 and 337%, respectively). In vitro functional expression studies showed that the mutant F9 had 8-fold increased activity compared to wildtype, consistent with a gain of function. The affected residue is important for binding to factor X (F10; <a href="/entry/613872">613872</a>), and the R338L substitution apparently increases the efficiency of this binding. <a href="#4" class="mim-tip-reference" title="Simioni, P., Tormene, D., Tognin, G., Gavasso, S., Bulato, C., Iacobelli, N. P., Finn, J. D., Spiezia, L., Radu, C., Arruda, V. R. <strong>X-linked thrombophilia with a mutant factor IX (factor IX Padua).</strong> New Eng. J. Med. 361: 1671-1675, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19846852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19846852</a>] [<a href="https://doi.org/10.1056/NEJMoa0904377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19846852">Simioni et al. (2009)</a> noted that <a href="#3" class="mim-tip-reference" title="Chang, J., Jin, J., Lollar, P., Bode, W., Brandstetter, H., Hamaguchi, N., Straight, D. L., Stafford, D. W. <strong>Changing residue 338 in human factor IX from arginine to alanine causes an increase in catalytic activity.</strong> J. Biol. Chem. 273: 12089-12094, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9575152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9575152</a>] [<a href="https://doi.org/10.1074/jbc.273.20.12089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9575152">Chang et al. (1998)</a> had generated mutant F9 molecules designed to locate the residues of F9a that bind FVIIIa (F8; <a href="/entry/300841">300841</a>) in vitro and had identified a variant at the same residue (R338A) that appeared to be part of a macromolecular binding site (exosite) for factor X. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9575152+19846852" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bezemer, I. D., Bare, L. A., Doggen, C. J. M., Arellano, A. R., Tong, C., Rowland, C. M., Catanese, J., Young, B. A., Reitsma, P. H., Devlin, J. J., Rosendaal, F. R. <strong>Gene variants associated with deep vein thrombosis.</strong> JAMA 299: 1306-1314, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18349091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18349091</a>] [<a href="https://doi.org/10.1001/jama.299.11.1306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18349091">Bezemer et al. (2008)</a> reported that the G allele (ala148) of F9 Malmo (<a href="/entry/300746#0028">300746.0028</a>) was associated with a 15 to 43% decrease in deep vein thrombosis risk compared to the A allele in 3 case-control studies of deep vein thrombosis. This common variant has a minor allele frequency of 0.32. In a follow-up study from 3 case-control studies involving a total of 1,445 male patients with deep venous thrombosis and 2,351 male controls, <a href="#1" class="mim-tip-reference" title="Bezemer, I. D., Arellano, A. R., Tong, C. H., Rowland, C. M., Ireland, H. A., Bauer, K. A., Catanese, J., Reitsma, P. H., Doggen, C. J. M., Devlin, J. J., Rosendaal, F. R., Bare, L. A. <strong>F9 Malmo, factor IX and deep vein thrombosis.</strong> Haematologica 94: 693-699, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19286883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19286883</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19286883[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/10.3324/haematol.2008.003020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19286883">Bezemer et al. (2009)</a> found that the G allele of F9 Malmo conferred protection against deep venous thrombosis (odds ratio of 0.80). The pooled corresponding odds ratio in a comparable number of women with deep venous thrombosis was 0.89. However, factor IX antigen level, factor IX activation peptide levels, and endogenous thrombin potential did not differ between the F9 Malmo genotypes. Although F9 Malmo was the most strongly associated with protection from deep vein thrombosis, the biologic mechanism remained unknown. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19286883+18349091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="van Minkelen, R., de Visser, M. C. H., van Hylckama Vlieg, A., Vos, H. L., Bertina, R. M. <strong>Sequence variants and haplotypes of the factor IX gene and the risk of venous thrombosis. (Letter)</strong> J. Thromb. Haemost. 6: 1610-1613, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18624978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18624978</a>] [<a href="https://doi.org/10.1111/j.1538-7836.2008.03066.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18624978">Van Minkelen et al. (2008)</a> sequenced the F9 gene in the cohort of patients studied by <a href="#5" class="mim-tip-reference" title="van Hylckama Vlieg, A., van der Linden, I. K., Bertina, R. M., Rosendaal, F. R. <strong>High levels of factor IX increase the risk of venous thrombosis.</strong> Blood 95: 3678-3682, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10845896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10845896</a>]" pmid="10845896">van Hylckama Vlieg et al. (2000)</a> to determine if there were genetic variants that could explain increased F9 levels. Although several SNPs were identified, none had a significant effect on F9 levels or deep venous thrombosis. Haplotype analysis showed a decreased risk in men for certain haplotypes, especially those including the known protective variant F9 Malmo (T148A; <a href="/entry/300746#0028">300746.0028</a>), but the effect in women did not reach significance. The authors concluded that variation in F9 may affect the risk of DVT, but that genetic variation does not explain F9 antigen levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18624978+10845896" 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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Bezemer, I. D., Arellano, A. R., Tong, C. H., Rowland, C. M., Ireland, H. A., Bauer, K. A., Catanese, J., Reitsma, P. H., Doggen, C. J. M., Devlin, J. J., Rosendaal, F. R., Bare, L. A.
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<strong>F9 Malmo, factor IX and deep vein thrombosis.</strong>
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Haematologica 94: 693-699, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19286883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19286883</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19286883[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=19286883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bezemer, I. D., Bare, L. A., Doggen, C. J. M., Arellano, A. R., Tong, C., Rowland, C. M., Catanese, J., Young, B. A., Reitsma, P. H., Devlin, J. J., Rosendaal, F. R.
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<strong>Gene variants associated with deep vein thrombosis.</strong>
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JAMA 299: 1306-1314, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18349091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18349091</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18349091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Chang, J., Jin, J., Lollar, P., Bode, W., Brandstetter, H., Hamaguchi, N., Straight, D. L., Stafford, D. W.
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<strong>Changing residue 338 in human factor IX from arginine to alanine causes an increase in catalytic activity.</strong>
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J. Biol. Chem. 273: 12089-12094, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9575152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9575152</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9575152" 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/10.1074/jbc.273.20.12089" target="_blank">Full Text</a>]
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<a id="Simioni2009" class="mim-anchor"></a>
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Simioni, P., Tormene, D., Tognin, G., Gavasso, S., Bulato, C., Iacobelli, N. P., Finn, J. D., Spiezia, L., Radu, C., Arruda, V. R.
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<strong>X-linked thrombophilia with a mutant factor IX (factor IX Padua).</strong>
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New Eng. J. Med. 361: 1671-1675, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19846852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19846852</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19846852" 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/NEJMoa0904377" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="van Hylckama Vlieg2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Hylckama Vlieg, A., van der Linden, I. K., Bertina, R. M., Rosendaal, F. R.
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<strong>High levels of factor IX increase the risk of venous thrombosis.</strong>
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Blood 95: 3678-3682, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10845896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10845896</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10845896" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="van Minkelen2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Minkelen, R., de Visser, M. C. H., van Hylckama Vlieg, A., Vos, H. L., Bertina, R. M.
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<strong>Sequence variants and haplotypes of the factor IX gene and the risk of venous thrombosis. (Letter)</strong>
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J. Thromb. Haemost. 6: 1610-1613, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18624978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18624978</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18624978" 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.1538-7836.2008.03066.x" target="_blank">Full Text</a>]
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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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Cassandra L. Kniffin : 11/6/2009
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 04/20/2017
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carol : 03/01/2012<br>carol : 2/29/2012<br>carol : 2/28/2012<br>ckniffin : 2/23/2012<br>carol : 4/8/2011<br>carol : 4/7/2011<br>carol : 11/11/2009<br>ckniffin : 11/10/2009
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<span class="mim-font">
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<strong>#</strong> 300807
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<h3>
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THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8
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</h3>
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Other entities represented in this entry:
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<span class="h3 mim-font">
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DEEP VENOUS THROMBOSIS, PROTECTION AGAINST, INCLUDED
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 98879;
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<strong>DO:</strong> 0111899;
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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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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<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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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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Xq27.1
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</span>
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</td>
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<td>
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<span class="mim-font">
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{Deep venous thrombosis, protection against}
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</td>
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<td>
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<span class="mim-font">
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300807
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<td>
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<span class="mim-font">
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X-linked recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<td>
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<span class="mim-font">
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F9
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</td>
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<td>
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<span class="mim-font">
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300746
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<span class="mim-font">
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Xq27.1
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<td>
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<span class="mim-font">
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Thrombophilia 8, X-linked, due to factor IX defect
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<span class="mim-font">
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300807
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<span class="mim-font">
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X-linked recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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<td>
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<span class="mim-font">
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F9
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</td>
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<td>
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<span class="mim-font">
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300746
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</span>
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</tbody>
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</table>
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<div>
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<br />
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because X-linked thrombophilia can be caused by a gain-of-function mutation in the gene encoding factor IX (F9; 300746) on Xq27.1.</p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Simioni et al. (2009) reported a 21-year-old Italian man who developed a deep venous thrombosis in the right leg after mild muscular stretching. Treatment with heparin and warfarin resulted in resolution and no further thrombosis. </p><p>In a study of 473 healthy controls, van Hylckama Vlieg et al. (2000) found that factor IX levels, as measured by enzyme-linked immunosorbent assay (ELISA), increased with age after the age of 55 years. Factor IX levels were substantially higher among 153 premenopausal women who used oral contraceptives. Ten percent of healthy control individuals had factor IX levels about 129 U/dl (90th percentile). More than 20% of 426 patients with deep venous thrombosis (DVT) had factor IX levels exceeding this cutoff point. The results indicated that individuals with factor IX levels above 129 U/dl have a 2.3-fold increased risk of developing a DVT compared to those with factor IX levels below this cutoff point. The risk of thrombosis increased with plasma levels of factor IX, indicating a dose-response effect. The risk was not affected by adjustment for possible confounders (age, sex, oral contraceptive use, and high levels of other coagulation factors). The risk for DVT was higher in women (odds ratio of 2.6) than in men (odds ratio of 1.9), and was highest in the group of premenopausal women not using oral contraceptives (odds ratio of 12.4). </p>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The findings in the family reported by Simioni et al. (2009) were consistent with X-linked recessive inheritance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In an Italian man with deep venous thrombosis of the femoral-popliteal veins, Simioni et al. (2009) identified a hemizygous mutation in the F9 gene (R338L; 300746.0112). Coagulation studies showed that he had normal levels of F9 antigen, but very high levels of F9 activity (776% of control values). His 11-year-old brother and mother, who were hemizygous and heterozygous for the mutation, respectively, also had normal F9 antigen levels and increased F9 activity levels (551 and 337%, respectively). In vitro functional expression studies showed that the mutant F9 had 8-fold increased activity compared to wildtype, consistent with a gain of function. The affected residue is important for binding to factor X (F10; 613872), and the R338L substitution apparently increases the efficiency of this binding. Simioni et al. (2009) noted that Chang et al. (1998) had generated mutant F9 molecules designed to locate the residues of F9a that bind FVIIIa (F8; 300841) in vitro and had identified a variant at the same residue (R338A) that appeared to be part of a macromolecular binding site (exosite) for factor X. </p><p>Bezemer et al. (2008) reported that the G allele (ala148) of F9 Malmo (300746.0028) was associated with a 15 to 43% decrease in deep vein thrombosis risk compared to the A allele in 3 case-control studies of deep vein thrombosis. This common variant has a minor allele frequency of 0.32. In a follow-up study from 3 case-control studies involving a total of 1,445 male patients with deep venous thrombosis and 2,351 male controls, Bezemer et al. (2009) found that the G allele of F9 Malmo conferred protection against deep venous thrombosis (odds ratio of 0.80). The pooled corresponding odds ratio in a comparable number of women with deep venous thrombosis was 0.89. However, factor IX antigen level, factor IX activation peptide levels, and endogenous thrombin potential did not differ between the F9 Malmo genotypes. Although F9 Malmo was the most strongly associated with protection from deep vein thrombosis, the biologic mechanism remained unknown. </p><p>Van Minkelen et al. (2008) sequenced the F9 gene in the cohort of patients studied by van Hylckama Vlieg et al. (2000) to determine if there were genetic variants that could explain increased F9 levels. Although several SNPs were identified, none had a significant effect on F9 levels or deep venous thrombosis. Haplotype analysis showed a decreased risk in men for certain haplotypes, especially those including the known protective variant F9 Malmo (T148A; 300746.0028), but the effect in women did not reach significance. The authors concluded that variation in F9 may affect the risk of DVT, but that genetic variation does not explain F9 antigen levels. </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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<p class="mim-text-font">
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Bezemer, I. D., Arellano, A. R., Tong, C. H., Rowland, C. M., Ireland, H. A., Bauer, K. A., Catanese, J., Reitsma, P. H., Doggen, C. J. M., Devlin, J. J., Rosendaal, F. R., Bare, L. A.
|
|
<strong>F9 Malmo, factor IX and deep vein thrombosis.</strong>
|
|
Haematologica 94: 693-699, 2009.
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[PubMed: 19286883]
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[Full Text: https://doi.org/10.3324/haematol.2008.003020]
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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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Bezemer, I. D., Bare, L. A., Doggen, C. J. M., Arellano, A. R., Tong, C., Rowland, C. M., Catanese, J., Young, B. A., Reitsma, P. H., Devlin, J. J., Rosendaal, F. R.
|
|
<strong>Gene variants associated with deep vein thrombosis.</strong>
|
|
JAMA 299: 1306-1314, 2008.
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[PubMed: 18349091]
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[Full Text: https://doi.org/10.1001/jama.299.11.1306]
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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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Chang, J., Jin, J., Lollar, P., Bode, W., Brandstetter, H., Hamaguchi, N., Straight, D. L., Stafford, D. W.
|
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<strong>Changing residue 338 in human factor IX from arginine to alanine causes an increase in catalytic activity.</strong>
|
|
J. Biol. Chem. 273: 12089-12094, 1998.
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[PubMed: 9575152]
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[Full Text: https://doi.org/10.1074/jbc.273.20.12089]
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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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Simioni, P., Tormene, D., Tognin, G., Gavasso, S., Bulato, C., Iacobelli, N. P., Finn, J. D., Spiezia, L., Radu, C., Arruda, V. R.
|
|
<strong>X-linked thrombophilia with a mutant factor IX (factor IX Padua).</strong>
|
|
New Eng. J. Med. 361: 1671-1675, 2009.
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[PubMed: 19846852]
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[Full Text: https://doi.org/10.1056/NEJMoa0904377]
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</p>
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</li>
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van Hylckama Vlieg, A., van der Linden, I. K., Bertina, R. M., Rosendaal, F. R.
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<strong>High levels of factor IX increase the risk of venous thrombosis.</strong>
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Blood 95: 3678-3682, 2000.
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[PubMed: 10845896]
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van Minkelen, R., de Visser, M. C. H., van Hylckama Vlieg, A., Vos, H. L., Bertina, R. M.
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<strong>Sequence variants and haplotypes of the factor IX gene and the risk of venous thrombosis. (Letter)</strong>
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J. Thromb. Haemost. 6: 1610-1613, 2008.
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[PubMed: 18624978]
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[Full Text: https://doi.org/10.1111/j.1538-7836.2008.03066.x]
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Cassandra L. Kniffin : 11/6/2009
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carol : 04/20/2017<br>carol : 03/01/2012<br>carol : 2/29/2012<br>carol : 2/28/2012<br>ckniffin : 2/23/2012<br>carol : 4/8/2011<br>carol : 4/7/2011<br>carol : 11/11/2009<br>ckniffin : 11/10/2009
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