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Entry
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- #613679 - PROTHROMBIN DEFICIENCY, CONGENITAL
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- OMIM
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<span class="h4">#613679</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</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="#biochemicalFeatures">Biochemical 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="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3277&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://medlineplus.gov/genetics/condition/prothrombin-deficiency" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=325" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:2235" 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/613679" 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>SNOMEDCT:</strong> 33297000<br />
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<strong>ORPHA:</strong> 325<br />
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<strong>DO:</strong> 2235<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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613679
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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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PROTHROMBIN DEFICIENCY, CONGENITAL
|
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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="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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HYPOPROTHROMBINEMIA
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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<div>
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<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">
|
|
DYSPROTHROMBINEMIA, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/351?start=-3&limit=10&highlight=351">
|
|
11p11.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Dysprothrombinemia
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613679"> 613679 </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">
|
|
F2
|
|
</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/11/351?start=-3&limit=10&highlight=351">
|
|
11p11.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Hypoprothrombinemia
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613679"> 613679 </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">
|
|
F2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176930"> 176930 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/613679" 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">
|
|
<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/613679" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613679" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Epistaxis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249366005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249366005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R04.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R04.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/784.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014591&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014591</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000421" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000421</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000421" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000421</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Gingival bleeding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86276007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86276007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017565</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000225</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000225</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Gastrointestinal bleeding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74474003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74474003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K92.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K92.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/578" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">578</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/578.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">578.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017181&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017181</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002239" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002239</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002239" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002239</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Menorrhagia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386692008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386692008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N92.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N92.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025323&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025323</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000132" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000132</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000132" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000132</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hemarthroses <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/81808003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">81808003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M25.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M25.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/719.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/719.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005261" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005261</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005261" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005261</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ecchymosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/77643000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">77643000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302227002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302227002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013491&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013491</a>, <a href="https://bioportal.bioontology.org/search?q=C3812660&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3812660</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031364" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031364</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031364" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031364</a>]</span><br /> -
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Easy bruising <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/425075004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">425075004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/424131007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">424131007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423798</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000978" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000978</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000978" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000978</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MUSCLE, SOFT TISSUES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Hematomas <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35566002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35566002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/385494008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">385494008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018944&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018944</a>]</span><br /> -
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Umbilical cord hemorrhage <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1610046&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1610046</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Intracranial bleeding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1386000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1386000</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/432.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">432.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151699&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151699</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002170" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002170</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> HEMATOLOGY </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Bleeding tendency due to defect in prothrombin and inability to form fibrin clot <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552924</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64779008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64779008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/362970003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">362970003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248250000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248250000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D68.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D68.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">286</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001892" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001892</a>]</span><br /> -
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Prolonged bleeding time <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R79.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R79.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151529&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151529</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003010</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003010</a>]</span><br /> -
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Prolonged prothrombin time <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409674002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409674002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/313341008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">313341008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151872&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151872</a>, <a href="https://bioportal.bioontology.org/search?q=C0853225&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853225</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008151" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008151</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008151" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008151</a>]</span><br /> -
|
|
Prolonged activated partial thromboplastin time <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409675001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409675001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240671&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240671</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003645" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003645</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003645" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003645</a>]</span><br /> -
|
|
Decreased F2 antigen levels (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552925</a>]</span><br /> -
|
|
Decreased F2 activity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552926&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552926</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset at birth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836142</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003577</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003577</a>]</span><br /> -
|
|
Prevalence of true hypoprothrombinemia is 1 in 2 million<br /> -
|
|
Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
|
|
Bleeding after trauma or surgery<br /> -
|
|
Some heterozygous carriers may have mild manifestations<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the coagulation factor II gene (F2, <a href="/entry/176930#0001">176930.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because congenital prothrombin deficiency is caused by homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin (F2; <a href="/entry/176930">176930</a>), on chromosome 11p11.</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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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Prothrombin deficiency is an extremely rare autosomal recessive bleeding disorder characterized by low levels of circulating prothrombin; it affects about 1 in 2,000,000 individuals. There are 2 main types: type I deficiency, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. These patients have severe bleeding from birth, including umbilical cord hemorrhage, hematomas, ecchymoses, hematuria, mucosal bleeding, hemarthroses, intracranial bleeding, gastrointestinal bleeding, and menorrhagia. Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein. Bleeding symptoms are more variable, depending on the amount of residual functional activity. Variant prothrombin gene alleles can result in 'hypoprothrombinemia' or 'dysprothrombinemia,' and individuals who are compound heterozygous for these 2 types of alleles have variable manifestations. Heterozygous mutation carriers, who have plasma levels between 40 and 60% of normal, are usually asymptomatic, but can show bleeding after tooth extraction or surgical procedures (review by <a href="#15" class="mim-tip-reference" title="Lancellotti, S., De Cristofaro, R. <strong>Congenital prothrombin deficiency.</strong> Semin. Thromb. Hemost. 35: 367-381, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19598065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19598065</a>] [<a href="https://doi.org/10.1055/s-0029-1225759" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19598065">Lancellotti and De Cristofaro, 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19598065" 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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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<p><a href="#25" class="mim-tip-reference" title="Quick, A. J., Hussey, C. V. <strong>Hereditary hypoprothrombinemias.</strong> Lancet 279: 173-177, 1962. Note: Originally Volume 1.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14489469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14489469</a>] [<a href="https://doi.org/10.1016/s0140-6736(62)91073-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14489469">Quick and Hussey (1962)</a> described congenital hypoprothrombinemia. In a patient reported by <a href="#25" class="mim-tip-reference" title="Quick, A. J., Hussey, C. V. <strong>Hereditary hypoprothrombinemias.</strong> Lancet 279: 173-177, 1962. Note: Originally Volume 1.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14489469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14489469</a>] [<a href="https://doi.org/10.1016/s0140-6736(62)91073-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14489469">Quick and Hussey (1962)</a>, <a href="#16" class="mim-tip-reference" title="Lanchantin, G. F., Hart, D. W., Friedmann, J. A., Saavedra, N. V., Mehl, J. W. <strong>Amino acid composition of human plasma prothrombin.</strong> J. Biol. Chem. 243: 5479-5485, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5752075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5752075</a>]" pmid="5752075">Lanchantin et al. (1968)</a> found no identifiable prothrombin protein, consistent with true deficiency or hypoprothrombinemia. This finding was distinct from a related disorder, dysprothrombinemia, in which a biologically dysfunctional protein can been detected by immunoassay. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14489469+5752075" 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="#24" class="mim-tip-reference" title="Poort, S. R., Michiels, J. J., Reitsma, P. H., Bertina, R. M. <strong>Homozygosity for a novel missense mutation in the prothrombin gene causing a severe bleeding disorder.</strong> Thromb. Haemost. 72: 819-824, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7740448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7740448</a>]" pmid="7740448">Poort et al. (1994)</a> reported a family with congenital prothrombin deficiency and severe bleeding. Clinical features included epistaxis and soft tissue, muscle, and joint bleedings in all, and severe menorrhagia in the 2 women. Laboratory studies of the proband showed factor II activity of about 2% and antigen levels of about 5% of normal controls, consistent with hypoprothrombinemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7740448" 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="#30" class="mim-tip-reference" title="Rubio, R., Almagro, D., Cruz, A., Corral, J. F. <strong>Prothrombin Habana: a new dysfunctional molecule of human prothrombin associated with a true prothrombin deficiency.</strong> Brit. J. Haemat. 54: 553-560, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6409139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6409139</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1983.tb02133.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6409139">Rubio et al. (1983)</a> reported a 5-year-old Cuban girl who presented with umbilical bleeding after birth, followed by easy bruising and bleeding tendency throughout her life. Laboratory studies showed prolonged prothrombin and partial thromboplastin times. Prothrombin activity was less than 10% of normal, but immunologic studies showed about 50% protein levels. Family studies showed that the father had approximately 50% prothrombin activity and antigen, whereas the mother had 45% prothrombin activity and almost 100% prothrombin antigen. <a href="#30" class="mim-tip-reference" title="Rubio, R., Almagro, D., Cruz, A., Corral, J. F. <strong>Prothrombin Habana: a new dysfunctional molecule of human prothrombin associated with a true prothrombin deficiency.</strong> Brit. J. Haemat. 54: 553-560, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6409139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6409139</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1983.tb02133.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6409139">Rubio et al. (1983)</a> concluded that the girl was compound heterozygous for a true prothrombin deficiency allele inherited from the father and for an abnormal dysprothrombinemia allele inherited from the mother. The hypoprothrombinemia allele was called prothrombin Habana. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6409139" 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="#29" class="mim-tip-reference" title="Rocha, E., Paramo, J. A., Bascones, C., Fisac, P. R., Cuesta, B., Fernandez, J. <strong>Prothrombin Segovia: a new congenital abnormality of prothrombin.</strong> Scand. J. Haemat. 36: 444-449, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3090681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3090681</a>] [<a href="https://doi.org/10.1111/j.1600-0609.1986.tb02279.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3090681">Rocha et al. (1986)</a> reported a 21-year-old Spanish man, born of consanguineous parents, who presented simultaneously with hemarthrosis of the left knee and an extensive hematoma following a minor trauma. Prothrombin time and activated partial thromboplastin time were prolonged. Prothrombin activity was very low (range 7 to 23% by various methods), whereas antigen levels were low-normal (64%), consistent with dysprothrombinemia. Both parents had about 50% reduced prothrombin activity. The variant, which showed an abnormal band on immunodiffusion, was termed prothrombin Segovia. <a href="#29" class="mim-tip-reference" title="Rocha, E., Paramo, J. A., Bascones, C., Fisac, P. R., Cuesta, B., Fernandez, J. <strong>Prothrombin Segovia: a new congenital abnormality of prothrombin.</strong> Scand. J. Haemat. 36: 444-449, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3090681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3090681</a>] [<a href="https://doi.org/10.1111/j.1600-0609.1986.tb02279.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3090681">Rocha et al. (1986)</a> stated that only 15 families with structural abnormalities of prothrombin had been described. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3090681" 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="Dumont, M.-D., Tapon-Bretaudiere, J., Fischer, A.-M., Bros, A., Chassevent, J., Aufeuvre, J.-P. <strong>Prothrombin Poissy: a new variant of human prothrombin.</strong> Brit. J. Haemat. 66: 239-243, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3606959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3606959</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1987.tb01305.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3606959">Dumont et al. (1987)</a> described a newborn girl with congenital dysprothrombinemia who presented severe bleeding from the second day of life. Routine coagulation tests showed very prolonged prothrombin time and activated partial thromboplastin time, with prothrombin activity ranging from 2 to 35%. The prothrombin antigen level was 47% and showed abnormal migration on immunoelectrophoresis. Tests of thrombin generation showed that the abnormal prothrombin was slowly and incompletely activated. Family studies showed both the abnormal and normal prothrombin in the father, mother, and brother. The proposita was thought to be homozygous for a 'lazy' dysprothrombin, termed prothrombin Poissy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3606959" 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="#18" class="mim-tip-reference" title="Lutze, G., Frick, U., Topfer, G., Urbahn, H. <strong>Hereditaere Dysprothrombinaemie mit geringer Blutungsneigung (Prothrombin Magdeburg).</strong> Dtsch. Med. Wschr. 114: 288-292, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2920673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2920673</a>] [<a href="https://doi.org/10.1055/s-2008-1066590" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2920673">Lutze et al. (1989)</a> described a family in which 7 members in 3 generations had an abnormal prothrombin. Five of the 7 persons had a slightly increased bleeding tendency manifested especially in more marked or prolonged posttraumatic and postoperative bleeding. Laboratory studies showed decreased clotting activity compared to antigen levels. The variant was referred to as prothrombin Magdeburg. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2920673" 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="#33" class="mim-tip-reference" title="Shapiro, S. S., Martinez, J., Holburn, R. R. <strong>Congenital dysprothrombinemia: an inherited structural disorder of human prothrombin.</strong> J. Clin. Invest. 48: 2251-2259, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5355338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5355338</a>] [<a href="https://doi.org/10.1172/JCI106191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5355338">Shapiro et al. (1969)</a> reported a large kindred in which 11 individuals had normal immunoreactive prothrombin antigen, but half-normal biologic prothrombin activity, consistent with dysprothrombinemia. They referred to the defective molecule as prothrombin Cardeza. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5355338" 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="#32" class="mim-tip-reference" title="Shapiro, S. S., Maldonado, N. I., Fradera, J., McCord, S. <strong>Prothrombin San Juan: a complex new dysprothrombinemia. (Abstract)</strong> J. Clin. Invest. 53: 73A only, 1974."None>Shapiro et al. (1974)</a> discussed 3 prothrombin variants--Barcelona (<a href="/entry/176930#0002">176930.0002</a>), Cardeza, and San Juan. They presented evidence that San Juan is in fact an example of a genetic compound, i.e., the parents were heterozygous for different prothrombin variants. Prothrombin Barcelona appeared to be an example of mutation at the cleavage site between the 'pro' and 'thrombin' parts of the molecule (<a href="#27" class="mim-tip-reference" title="Rabiet, M.-J., Elion, J., Benarous, R., Labie, D., Josso, F. <strong>Activation of prothrombin Barcelona: evidence for active high molecular weight intermediates.</strong> Biochim. Biophys. Acta 584: 66-75, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/444582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">444582</a>] [<a href="https://doi.org/10.1016/0304-4165(79)90236-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="444582">Rabiet et al., 1979</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=444582" 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 an editorial on variants of vitamin K-dependent coagulation factors, <a href="#2" class="mim-tip-reference" title="Bertina, R. M., Briet, E., Veltkamp, J. J. <strong>Variants of vitamin K dependent coagulation factors. (Editorial)</strong> Acta Haemat. 62: 1-3, 1979."None>Bertina et al. (1979)</a> stated that 9 defective variants of factor II (F2), 5 variants of factor X (F10; <a href="/entry/613872">613872</a>), and many variants of factor IX (F9; <a href="/entry/300746">300746</a>) had been identified.</p><p><a href="#3" class="mim-tip-reference" title="Board, P. G., Coggan, M., Pidcock, M. E. <strong>Genetic heterogeneity of human prothrombin (FII).</strong> Ann. Hum. Genet. 46: 1-9, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7103409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7103409</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1982.tb00689.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7103409">Board et al. (1982)</a> referenced the functionally abnormal prothrombins that had been reported, noting that functional abnormality was more likely to occur with a mutation affecting the enzymatically active part of the molecule or at sites where activated factor X either splits off the initial profragment or activates the thrombin molecule. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7103409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Inomoto, T., Shirakami, A., Kawauchi, S., Shigekiyo, T., Saito, S., Miyoshi, K., Morita, T., Iwanaga, S. <strong>Prothrombin Tokushima: characterization of dysfunctional thrombin derived from a variant of human prothrombin.</strong> Blood 69: 565-569, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3801671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3801671</a>]" pmid="3801671">Inomoto et al. (1987)</a> stated that only 16 prothrombin variants leading to congenital dysprothrombinemia had been reported. All dysprothrombinemia variants were characterized by a decrease in the functional level of prothrombin relative to the antigenic level of prothrombin. Five of the prothrombin variants had been purified and characterized. Prothrombin Barcelona (<a href="/entry/176930#0002">176930.0002</a>) and prothrombin Madrid were found to have specific impairment of 1 of the 2 factor Xa-catalyzed cleavages, whereas prothrombin Quick (<a href="/entry/176930#0004">176930.0004</a>; <a href="/entry/176930#0005">176930.0005</a>), prothrombin Metz, and prothrombin Salakta had a defect confined to the thrombin portion of the molecule. <a href="#8" class="mim-tip-reference" title="Inomoto, T., Shirakami, A., Kawauchi, S., Shigekiyo, T., Saito, S., Miyoshi, K., Morita, T., Iwanaga, S. <strong>Prothrombin Tokushima: characterization of dysfunctional thrombin derived from a variant of human prothrombin.</strong> Blood 69: 565-569, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3801671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3801671</a>]" pmid="3801671">Inomoto et al. (1987)</a> described the first case of dysprothrombinemia in Japan; the prothrombin variant Tokushima (<a href="/entry/176930#0003">176930.0003</a>) also had a defect in the thrombin portion. The patient was a compound heterozygote; the mother had a dysprothrombinemia allele and the father had a hypoprothrombinemia allele (<a href="/entry/176930#0008">176930.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3801671" 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="#37" class="mim-tip-reference" title="Valls-de-Ruiz, M., Ruiz-Arguelles, A., Ruiz-Arguelles, G. J., Ambriz, R. <strong>Prothrombin 'Mexico City,' an asymptomatic autosomal dominant prothrombin variant.</strong> Am. J. Hemat. 24: 229-240, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3826054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3826054</a>] [<a href="https://doi.org/10.1002/ajh.2830240302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3826054">Valls-de-Ruiz et al. (1987)</a> described a Mexican Mestizo family in which a mother and all 3 of her children had a functionally normal but structurally abnormal prothrombin variant, termed 'Mexico City.' Laboratory studies showed an abnormal cleavage of the prothrombin molecule by factor Xa, despite a functionally normal thrombin molecule. The family also had multiple exostoses (<a href="/entry/133700">133700</a>), which was molecularly unrelated to the prothrombin variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3826054" 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="#13" class="mim-tip-reference" title="Josso, P., Prou-Wartelle, O., Soulier, J.-P. <strong>Etude d'un cas d'hypoprothrombinemie congenitale.</strong> Nouv. Rev. Franc. Hemat. 2: 647-672, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14042011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14042011</a>]" pmid="14042011">Josso et al. (1962)</a> reported 2 affected offspring with hypoprothrombinemia who were born of first-cousins, suggesting autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14042011" 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 affected members of a family with congenital prothrombin deficiency, <a href="#24" class="mim-tip-reference" title="Poort, S. R., Michiels, J. J., Reitsma, P. H., Bertina, R. M. <strong>Homozygosity for a novel missense mutation in the prothrombin gene causing a severe bleeding disorder.</strong> Thromb. Haemost. 72: 819-824, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7740448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7740448</a>]" pmid="7740448">Poort et al. (1994)</a> identified a homozygous mutation in the F2 gene (Y44C; <a href="/entry/176930#0014">176930.0014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7740448" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The allelic variants causing dysprothrombinemia are usually indicated according to the city or area where they were described for the first time: see, e.g., prothrombin Barcelona (<a href="/entry/176930#0002">176930.0002</a>) and prothrombin Tokushima (<a href="/entry/176930#0003">176930.0003</a>). The abnormalities are usually caused by a defect in activation of the protease, such as prothrombin Barcelona, or a defect in the protease itself, such as prothrombin Quick (<a href="/entry/176930#0004">176930.0004</a>; <a href="/entry/176930#0005">176930.0005</a>) and prothrombin Tokushima (reviews by <a href="#7" class="mim-tip-reference" title="Girolami, A., Scarano, L., Saggiorato, G., Girolami, B., Bertomoro, A., Marchiori, A. <strong>Congenital deficiencies and abnormalities of prothrombin.</strong> Blood Coagul. Fibrinolysis 9: 557-569, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9863703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9863703</a>] [<a href="https://doi.org/10.1097/00001721-199810000-00001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9863703">Girolami et al., 1998</a> and <a href="#15" class="mim-tip-reference" title="Lancellotti, S., De Cristofaro, R. <strong>Congenital prothrombin deficiency.</strong> Semin. Thromb. Hemost. 35: 367-381, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19598065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19598065</a>] [<a href="https://doi.org/10.1055/s-0029-1225759" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19598065">Lancellotti and De Cristofaro, 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19598065+9863703" 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="#20" class="mim-tip-reference" title="Montgomery, R. R., Corrigan, J. J., Clarke, S., Johnson, J. <strong>Prothrombin Denver: a new dysprothrombinemia. (Abstract)</strong> Circulation 62 (suppl. III): 279 only, 1980."None>Montgomery et al. (1980)</a> described a form of dysprothrombinemia that they referred to as prothrombin Denver. The proband had a severe hemophilia-like bleeding disorder treated with weekly prophylactic factor replacement. <a href="#17" class="mim-tip-reference" title="Lefkowitz, J. B., Haver, T., Clarke, S., Jacobson, L., Weller, A., Nuss, R., Manco-Johnson, M., Hathaway, W. E. <strong>The prothrombin Denver patient has two different prothrombin point mutations resulting in glu300-to-lys and glu309-to-lys substitutions.</strong> Brit. J. Haemat. 108: 182-187, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10651742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10651742</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2000.01810.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10651742">Lefkowitz et al. (2000)</a> found that the patient was a compound heterozygote for 2 mutations in the F2 gene: glu300-to-lys (E300K; <a href="/entry/176930#0010">176930.0010</a> and E309K; <a href="/entry/176930#0011">176930.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10651742" 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 an Iranian girl with a mild form of dysprothrombinemia characterized sporadic ecchymosis and 1 episode of buttock hematoma following a major trauma, <a href="#1" class="mim-tip-reference" title="Akhavan, S., Mannucci, P. M., Lak, M., Mancuso, G., Mazzucconi, M. G., Rocino, A., Jenkins, P. V., Perkins, S. J. <strong>Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency.</strong> Thromb. Haemost. 84: 989-997, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11154146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11154146</a>]" pmid="11154146">Akhavan et al. (2000)</a> identified a homozygous substitution in the prothrombin gene (R382H; <a href="/entry/176930#0012">176930.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11154146" 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="#Girolami1971" class="mim-tip-reference" title="Girolami, A. <strong>The hereditary transmission of congenital 'true' hypoprothrombinaemia.</strong> Brit. J. Haemat. 21: 695-704, 1971.">Girolami (1971)</a>; <a href="#Girolami1974" class="mim-tip-reference" title="Girolami, A., Bareggi, G., Brunetti, A., Sticchi, A. <strong>Prothrombin Padua: a new congenital dysprothrombinemia.</strong> J. Lab. Clin. Med. 84: 654-666, 1974.">Girolami et al. (1974)</a>; <a href="#Iwahana1992" class="mim-tip-reference" title="Iwahana, H., Yoshimoto, K., Shigekiyo, T., Shirakami, A., Saito, S., Itakura, M. <strong>Molecular and genetic analysis of a compound heterozygote for dysprothrombinemia of prothrombin Tokushima and hypoprothrombinemia.</strong> Am. J. Hum. Genet. 51: 1386-1395, 1992.">Iwahana et al. (1992)</a>; <a href="#Iwahana1992" class="mim-tip-reference" title="Iwahana, H., Yoshimoto, K., Shigekiyo, T., Shirakami, A., Saito, S., Itakura, M. <strong>Molecular and genetic analysis of a compound heterozygote for dysprothrombinemia of prothrombin Tokushima and hypoprothrombinemia.</strong> Am. J. Hum. Genet. 51: 1386-1395, 1992.">Iwahana et al. (1992)</a>; <a href="#Josso1971" class="mim-tip-reference" title="Josso, F., Monasterio De Sanchez, J., Lavergne, J. M., Menache, D., Soulier, J. P. <strong>Congenital abnormality of the prothrombin molecule (factor II) in four siblings: prothrombin Barcelona.</strong> Blood 38: 9-16, 1971.">Josso et al. (1971)</a>; <a href="#Josso1982" class="mim-tip-reference" title="Josso, F., Rio, Y., Beguin, S. <strong>A new variant of human prothrombin: prothrombin Metz, demonstration in a family showing double heterozygosity for congenital hypoprothrombinemia and dysprothrombinemia.</strong> Haemostasis 12: 309-316, 1982.">Josso et al. (1982)</a>; <a href="#Kattlove1970" class="mim-tip-reference" title="Kattlove, H. E., Shapiro, S. S., Spivack, M. <strong>Hereditary prothrombin deficiency.</strong> New Eng. J. Med. 282: 57-61, 1970.">Kattlove et al. (1970)</a>; <a href="#Meeks2008" class="mim-tip-reference" title="Meeks, S. L., Abshire, T. C. <strong>Abnormalities of prothrombin: a review of the pathophysiology, diagnosis, and treatment.</strong> Haemophilia 14: 1159-1163, 2008.">Meeks and Abshire (2008)</a>; <a href="#Morishita1992" class="mim-tip-reference" title="Morishita, E., Saito, M., Kumabashiri, I., Asakura, H., Matsuda, T., Yamaguchi, K. <strong>Prothrombin Himi: a compound heterozygote for two dysfunctional prothrombin molecules (met-337-to-thr and arg-388-to-his).</strong> Blood 80: 2275-2280, 1992.">Morishita et al.
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(1992)</a>; <a href="#Owen1978" class="mim-tip-reference" title="Owen, C. A., Jr., Henriksen, R. A., McDuffie, F. C., Mann, K. G. <strong>Prothrombin Quick: a newly identified dysprothrombinemia.</strong> Mayo Clin. Proc. 53: 29-33, 1978.">Owen et al. (1978)</a>; <a href="#Pool1962" class="mim-tip-reference" title="Pool, J. G., Desai, R., Kropatkin, M. L. <strong>Severe congenital hypoprothrombinemia in a Negro boy.</strong> Thromb. Diath. Haemorrh. 8: 235-240, 1962.">Pool et al. (1962)</a>; <a href="#Quick1955" class="mim-tip-reference" title="Quick, A. J., Pisciotta, A. V., Hussey, C. V. <strong>Congenital hypoprothrombinemic states.</strong> Arch. Intern. Med. 95: 2-14, 1955.">Quick et al. (1955)</a>; <a href="#Rabiet1984" class="mim-tip-reference" title="Rabiet, M. J., Jandrot-Perrus, M., Boissel, J. P., Elion, J., Josso, F. <strong>Thrombin Metz: characterization of the dysfunctional thrombin derived from a variant of human prothrombin.</strong> Blood 63: 927-934, 1984.">Rabiet et al. (1984)</a>; <a href="#Segal2009" class="mim-tip-reference" title="Segal, J. B., Brotman, D. J., Necochea, A. J., Emadi, A., Samal, L., Wilson, L. M., Crim, M. T., Bass, E. B. <strong>Predictive value of factor V Leiden and prothrombin G20210A in adults with venous thromboembolism and in family members of those with a mutation: a systematic review.</strong> JAMA 301: 2472-2485, 2009.">Segal et al. (2009)</a>; <a href="#Shirakami1984" class="mim-tip-reference" title="Shirakami, A., Kawauchi, S. <strong>Congenital dysprothrombinemia.</strong> Acta Haemat. Jpn. 47: 1697-1704, 1984.">Shirakami and Kawauchi
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(1984)</a>; <a href="#Shirakami1983" class="mim-tip-reference" title="Shirakami, A., Kawauchi, S., Shigekiyo, T., Ono, H., Kataoka, K., Miyoshi, K., Yura, Y. <strong>Prothrombin Tokushima: a family with heterozygosity for dysprothrombin and hypoprothrombin. (Abstract)</strong> Acta Haemat. Jpn. 46: 589 only, 1983.">Shirakami et al. (1983)</a>; <a href="#Smith1981" class="mim-tip-reference" title="Smith, L. G., Coone, L. A. H., Kitchens, C. S. <strong>Prothrombin Gainesville: a dysprothrombinemia in a pair of identical twins.</strong> Am. J. Hemat. 11: 223-231, 1981.">Smith et al. (1981)</a>; <a href="#Van1954" class="mim-tip-reference" title="Van Creveld, S. <strong>Congenital idiopathic hypoprothrombinemia.</strong> Acta Paediat. Suppl. 43: 245-255, 1954.">Van Creveld
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(1954)</a>; <a href="#Weinger1980" class="mim-tip-reference" title="Weinger, R. S., Rudy, C., Moake, J. L., Olson, J. D., Cimo, P. L. <strong>Prothrombin Houston: a dysprothrombin identifiable by crossed immunoelectrofocusing and abnormal Echis carinatus venom activation.</strong> Blood 55: 811-816, 1980.">Weinger et al. (1980)</a>
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Akhavan, S., Mannucci, P. M., Lak, M., Mancuso, G., Mazzucconi, M. G., Rocino, A., Jenkins, P. V., Perkins, S. J.
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<strong>Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency.</strong>
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Thromb. Haemost. 84: 989-997, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11154146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11154146</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11154146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bertina, R. M., Briet, E., Veltkamp, J. J.
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<strong>Variants of vitamin K dependent coagulation factors. (Editorial)</strong>
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Acta Haemat. 62: 1-3, 1979.
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Board, P. G., Coggan, M., Pidcock, M. E.
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<strong>Genetic heterogeneity of human prothrombin (FII).</strong>
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Ann. Hum. Genet. 46: 1-9, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7103409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7103409</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7103409" 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.1469-1809.1982.tb00689.x" target="_blank">Full Text</a>]
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Dumont, M.-D., Tapon-Bretaudiere, J., Fischer, A.-M., Bros, A., Chassevent, J., Aufeuvre, J.-P.
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<strong>Prothrombin Poissy: a new variant of human prothrombin.</strong>
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Brit. J. Haemat. 66: 239-243, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3606959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3606959</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3606959" 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.1365-2141.1987.tb01305.x" target="_blank">Full Text</a>]
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Girolami, A.
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<strong>The hereditary transmission of congenital 'true' hypoprothrombinaemia.</strong>
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Brit. J. Haemat. 21: 695-704, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5132950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5132950</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5132950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Girolami, A., Bareggi, G., Brunetti, A., Sticchi, A.
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<strong>Prothrombin Padua: a new congenital dysprothrombinemia.</strong>
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J. Lab. Clin. Med. 84: 654-666, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4283787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4283787</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4283787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Girolami, A., Scarano, L., Saggiorato, G., Girolami, B., Bertomoro, A., Marchiori, A.
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<strong>Congenital deficiencies and abnormalities of prothrombin.</strong>
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Blood Coagul. Fibrinolysis 9: 557-569, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9863703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9863703</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9863703" 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/10.1097/00001721-199810000-00001" target="_blank">Full Text</a>]
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Inomoto, T., Shirakami, A., Kawauchi, S., Shigekiyo, T., Saito, S., Miyoshi, K., Morita, T., Iwanaga, S.
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<strong>Prothrombin Tokushima: characterization of dysfunctional thrombin derived from a variant of human prothrombin.</strong>
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Blood 69: 565-569, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3801671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3801671</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3801671" 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/NEJM197001082820202" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1055/s-0029-1225759" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6546700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6546700</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6546700" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="29" class="mim-anchor"></a>
|
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<a id="Rocha1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rocha, E., Paramo, J. A., Bascones, C., Fisac, P. R., Cuesta, B., Fernandez, J.
|
|
<strong>Prothrombin Segovia: a new congenital abnormality of prothrombin.</strong>
|
|
Scand. J. Haemat. 36: 444-449, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3090681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3090681</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3090681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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|
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[<a href="https://doi.org/10.1111/j.1600-0609.1986.tb02279.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="30" class="mim-anchor"></a>
|
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<a id="Rubio1983" class="mim-anchor"></a>
|
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<div class="">
|
|
<p class="mim-text-font">
|
|
Rubio, R., Almagro, D., Cruz, A., Corral, J. F.
|
|
<strong>Prothrombin Habana: a new dysfunctional molecule of human prothrombin associated with a true prothrombin deficiency.</strong>
|
|
Brit. J. Haemat. 54: 553-560, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6409139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6409139</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6409139" 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.1365-2141.1983.tb02133.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="31" class="mim-anchor"></a>
|
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<a id="Segal2009" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Segal, J. B., Brotman, D. J., Necochea, A. J., Emadi, A., Samal, L., Wilson, L. M., Crim, M. T., Bass, E. B.
|
|
<strong>Predictive value of factor V Leiden and prothrombin G20210A in adults with venous thromboembolism and in family members of those with a mutation: a systematic review.</strong>
|
|
JAMA 301: 2472-2485, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19531787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19531787</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19531787" 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/10.1001/jama.2009.853" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="32" class="mim-anchor"></a>
|
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<a id="Shapiro1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shapiro, S. S., Maldonado, N. I., Fradera, J., McCord, S.
|
|
<strong>Prothrombin San Juan: a complex new dysprothrombinemia. (Abstract)</strong>
|
|
J. Clin. Invest. 53: 73A only, 1974.
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</p>
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</div>
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</li>
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<li>
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<a id="33" class="mim-anchor"></a>
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<a id="Shapiro1969" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
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Shapiro, S. S., Martinez, J., Holburn, R. R.
|
|
<strong>Congenital dysprothrombinemia: an inherited structural disorder of human prothrombin.</strong>
|
|
J. Clin. Invest. 48: 2251-2259, 1969.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5355338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5355338</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5355338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1172/JCI106191" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="34" class="mim-anchor"></a>
|
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<a id="Shirakami1984" class="mim-anchor"></a>
|
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<div class="">
|
|
<p class="mim-text-font">
|
|
Shirakami, A., Kawauchi, S.
|
|
<strong>Congenital dysprothrombinemia.</strong>
|
|
Acta Haemat. Jpn. 47: 1697-1704, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6085205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6085205</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6085205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="35" class="mim-anchor"></a>
|
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<a id="Shirakami1983" class="mim-anchor"></a>
|
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<div class="">
|
|
<p class="mim-text-font">
|
|
Shirakami, A., Kawauchi, S., Shigekiyo, T., Ono, H., Kataoka, K., Miyoshi, K., Yura, Y.
|
|
<strong>Prothrombin Tokushima: a family with heterozygosity for dysprothrombin and hypoprothrombin. (Abstract)</strong>
|
|
Acta Haemat. Jpn. 46: 589 only, 1983.
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</p>
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</div>
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</li>
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<li>
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<a id="36" class="mim-anchor"></a>
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<a id="Smith1981" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Smith, L. G., Coone, L. A. H., Kitchens, C. S.
|
|
<strong>Prothrombin Gainesville: a dysprothrombinemia in a pair of identical twins.</strong>
|
|
Am. J. Hemat. 11: 223-231, 1981.
|
|
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7198379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7198379</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7198379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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|
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[<a href="https://doi.org/10.1002/ajh.2830110302" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="37" class="mim-anchor"></a>
|
|
<a id="Valls-de-Ruiz1987" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Valls-de-Ruiz, M., Ruiz-Arguelles, A., Ruiz-Arguelles, G. J., Ambriz, R.
|
|
<strong>Prothrombin 'Mexico City,' an asymptomatic autosomal dominant prothrombin variant.</strong>
|
|
Am. J. Hemat. 24: 229-240, 1987.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3826054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3826054</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3826054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1002/ajh.2830240302" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="38" class="mim-anchor"></a>
|
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<a id="Van Creveld1954" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Van Creveld, S.
|
|
<strong>Congenital idiopathic hypoprothrombinemia.</strong>
|
|
Acta Paediat. Suppl. 43: 245-255, 1954.
|
|
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13228032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13228032</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13228032" 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.1651-2227.1954.tb15475.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="39" class="mim-anchor"></a>
|
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<a id="Weinger1980" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Weinger, R. S., Rudy, C., Moake, J. L., Olson, J. D., Cimo, P. L.
|
|
<strong>Prothrombin Houston: a dysprothrombin identifiable by crossed immunoelectrofocusing and abnormal Echis carinatus venom activation.</strong>
|
|
Blood 55: 811-816, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7362870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7362870</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7362870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
|
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Cassandra L. Kniffin : 12/27/2010
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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carol : 10/24/2016
|
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</span>
|
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</div>
|
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</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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carol : 10/21/2016<br>carol : 04/08/2011<br>terry : 2/28/2011<br>carol : 1/4/2011<br>ckniffin : 1/3/2011
|
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
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<strong>#</strong> 613679
|
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</span>
|
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</h3>
|
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</div>
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<div>
|
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<h3>
|
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<span class="mim-font">
|
|
|
|
PROTHROMBIN DEFICIENCY, CONGENITAL
|
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</span>
|
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</h3>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<div >
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
HYPOPROTHROMBINEMIA
|
|
</span>
|
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</h4>
|
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</div>
|
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</div>
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<div>
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<br />
|
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</div>
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<div>
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<div>
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<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
DYSPROTHROMBINEMIA, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 33297000;
|
|
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 325;
|
|
|
|
|
|
<strong>DO:</strong> 2235;
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
11p11.2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Dysprothrombinemia
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
613679
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
F2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
176930
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
11p11.2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Hypoprothrombinemia
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
613679
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<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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F2
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<span class="mim-font">
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176930
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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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 congenital prothrombin deficiency is caused by homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin (F2; 176930), on chromosome 11p11.</p>
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<h4>
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<span class="mim-font">
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<strong>Description</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>Prothrombin deficiency is an extremely rare autosomal recessive bleeding disorder characterized by low levels of circulating prothrombin; it affects about 1 in 2,000,000 individuals. There are 2 main types: type I deficiency, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. These patients have severe bleeding from birth, including umbilical cord hemorrhage, hematomas, ecchymoses, hematuria, mucosal bleeding, hemarthroses, intracranial bleeding, gastrointestinal bleeding, and menorrhagia. Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein. Bleeding symptoms are more variable, depending on the amount of residual functional activity. Variant prothrombin gene alleles can result in 'hypoprothrombinemia' or 'dysprothrombinemia,' and individuals who are compound heterozygous for these 2 types of alleles have variable manifestations. Heterozygous mutation carriers, who have plasma levels between 40 and 60% of normal, are usually asymptomatic, but can show bleeding after tooth extraction or surgical procedures (review by Lancellotti and De Cristofaro, 2009). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Quick and Hussey (1962) described congenital hypoprothrombinemia. In a patient reported by Quick and Hussey (1962), Lanchantin et al. (1968) found no identifiable prothrombin protein, consistent with true deficiency or hypoprothrombinemia. This finding was distinct from a related disorder, dysprothrombinemia, in which a biologically dysfunctional protein can been detected by immunoassay. </p><p>Poort et al. (1994) reported a family with congenital prothrombin deficiency and severe bleeding. Clinical features included epistaxis and soft tissue, muscle, and joint bleedings in all, and severe menorrhagia in the 2 women. Laboratory studies of the proband showed factor II activity of about 2% and antigen levels of about 5% of normal controls, consistent with hypoprothrombinemia. </p><p>Rubio et al. (1983) reported a 5-year-old Cuban girl who presented with umbilical bleeding after birth, followed by easy bruising and bleeding tendency throughout her life. Laboratory studies showed prolonged prothrombin and partial thromboplastin times. Prothrombin activity was less than 10% of normal, but immunologic studies showed about 50% protein levels. Family studies showed that the father had approximately 50% prothrombin activity and antigen, whereas the mother had 45% prothrombin activity and almost 100% prothrombin antigen. Rubio et al. (1983) concluded that the girl was compound heterozygous for a true prothrombin deficiency allele inherited from the father and for an abnormal dysprothrombinemia allele inherited from the mother. The hypoprothrombinemia allele was called prothrombin Habana. </p><p>Rocha et al. (1986) reported a 21-year-old Spanish man, born of consanguineous parents, who presented simultaneously with hemarthrosis of the left knee and an extensive hematoma following a minor trauma. Prothrombin time and activated partial thromboplastin time were prolonged. Prothrombin activity was very low (range 7 to 23% by various methods), whereas antigen levels were low-normal (64%), consistent with dysprothrombinemia. Both parents had about 50% reduced prothrombin activity. The variant, which showed an abnormal band on immunodiffusion, was termed prothrombin Segovia. Rocha et al. (1986) stated that only 15 families with structural abnormalities of prothrombin had been described. </p><p>Dumont et al. (1987) described a newborn girl with congenital dysprothrombinemia who presented severe bleeding from the second day of life. Routine coagulation tests showed very prolonged prothrombin time and activated partial thromboplastin time, with prothrombin activity ranging from 2 to 35%. The prothrombin antigen level was 47% and showed abnormal migration on immunoelectrophoresis. Tests of thrombin generation showed that the abnormal prothrombin was slowly and incompletely activated. Family studies showed both the abnormal and normal prothrombin in the father, mother, and brother. The proposita was thought to be homozygous for a 'lazy' dysprothrombin, termed prothrombin Poissy. </p><p>Lutze et al. (1989) described a family in which 7 members in 3 generations had an abnormal prothrombin. Five of the 7 persons had a slightly increased bleeding tendency manifested especially in more marked or prolonged posttraumatic and postoperative bleeding. Laboratory studies showed decreased clotting activity compared to antigen levels. The variant was referred to as prothrombin Magdeburg. </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>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Shapiro et al. (1969) reported a large kindred in which 11 individuals had normal immunoreactive prothrombin antigen, but half-normal biologic prothrombin activity, consistent with dysprothrombinemia. They referred to the defective molecule as prothrombin Cardeza. </p><p>Shapiro et al. (1974) discussed 3 prothrombin variants--Barcelona (176930.0002), Cardeza, and San Juan. They presented evidence that San Juan is in fact an example of a genetic compound, i.e., the parents were heterozygous for different prothrombin variants. Prothrombin Barcelona appeared to be an example of mutation at the cleavage site between the 'pro' and 'thrombin' parts of the molecule (Rabiet et al., 1979). </p><p>In an editorial on variants of vitamin K-dependent coagulation factors, Bertina et al. (1979) stated that 9 defective variants of factor II (F2), 5 variants of factor X (F10; 613872), and many variants of factor IX (F9; 300746) had been identified.</p><p>Board et al. (1982) referenced the functionally abnormal prothrombins that had been reported, noting that functional abnormality was more likely to occur with a mutation affecting the enzymatically active part of the molecule or at sites where activated factor X either splits off the initial profragment or activates the thrombin molecule. </p><p>Inomoto et al. (1987) stated that only 16 prothrombin variants leading to congenital dysprothrombinemia had been reported. All dysprothrombinemia variants were characterized by a decrease in the functional level of prothrombin relative to the antigenic level of prothrombin. Five of the prothrombin variants had been purified and characterized. Prothrombin Barcelona (176930.0002) and prothrombin Madrid were found to have specific impairment of 1 of the 2 factor Xa-catalyzed cleavages, whereas prothrombin Quick (176930.0004; 176930.0005), prothrombin Metz, and prothrombin Salakta had a defect confined to the thrombin portion of the molecule. Inomoto et al. (1987) described the first case of dysprothrombinemia in Japan; the prothrombin variant Tokushima (176930.0003) also had a defect in the thrombin portion. The patient was a compound heterozygote; the mother had a dysprothrombinemia allele and the father had a hypoprothrombinemia allele (176930.0008). </p><p>Valls-de-Ruiz et al. (1987) described a Mexican Mestizo family in which a mother and all 3 of her children had a functionally normal but structurally abnormal prothrombin variant, termed 'Mexico City.' Laboratory studies showed an abnormal cleavage of the prothrombin molecule by factor Xa, despite a functionally normal thrombin molecule. The family also had multiple exostoses (133700), which was molecularly unrelated to the prothrombin variant. </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>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>Josso et al. (1962) reported 2 affected offspring with hypoprothrombinemia who were born of first-cousins, suggesting autosomal 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 affected members of a family with congenital prothrombin deficiency, Poort et al. (1994) identified a homozygous mutation in the F2 gene (Y44C; 176930.0014). </p><p>The allelic variants causing dysprothrombinemia are usually indicated according to the city or area where they were described for the first time: see, e.g., prothrombin Barcelona (176930.0002) and prothrombin Tokushima (176930.0003). The abnormalities are usually caused by a defect in activation of the protease, such as prothrombin Barcelona, or a defect in the protease itself, such as prothrombin Quick (176930.0004; 176930.0005) and prothrombin Tokushima (reviews by Girolami et al., 1998 and Lancellotti and De Cristofaro, 2009). </p><p>Montgomery et al. (1980) described a form of dysprothrombinemia that they referred to as prothrombin Denver. The proband had a severe hemophilia-like bleeding disorder treated with weekly prophylactic factor replacement. Lefkowitz et al. (2000) found that the patient was a compound heterozygote for 2 mutations in the F2 gene: glu300-to-lys (E300K; 176930.0010 and E309K; 176930.0011). </p><p>In an Iranian girl with a mild form of dysprothrombinemia characterized sporadic ecchymosis and 1 episode of buttock hematoma following a major trauma, Akhavan et al. (2000) identified a homozygous substitution in the prothrombin gene (R382H; 176930.0012). </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">
|
|
<strong>See Also:</strong>
|
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</span>
|
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</h4>
|
|
<span class="mim-text-font">
|
|
Girolami (1971); Girolami et al. (1974); Iwahana et al. (1992);
|
|
Iwahana et al. (1992); Josso et al. (1971); Josso et al. (1982);
|
|
Kattlove et al. (1970); Meeks and Abshire (2008); Morishita et al.
|
|
(1992); Owen et al. (1978); Pool et al. (1962); Quick et al. (1955);
|
|
Rabiet et al. (1984); Segal et al. (2009); Shirakami and Kawauchi
|
|
(1984); Shirakami et al. (1983); Smith et al. (1981); Van Creveld
|
|
(1954); Weinger et al. (1980)
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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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Akhavan, S., Mannucci, P. M., Lak, M., Mancuso, G., Mazzucconi, M. G., Rocino, A., Jenkins, P. V., Perkins, S. J.
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<strong>Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency.</strong>
|
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Thromb. Haemost. 84: 989-997, 2000.
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[PubMed: 11154146]
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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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Bertina, R. M., Briet, E., Veltkamp, J. J.
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<strong>Variants of vitamin K dependent coagulation factors. (Editorial)</strong>
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Acta Haemat. 62: 1-3, 1979.
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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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Board, P. G., Coggan, M., Pidcock, M. E.
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<strong>Genetic heterogeneity of human prothrombin (FII).</strong>
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Ann. Hum. Genet. 46: 1-9, 1982.
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[PubMed: 7103409]
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[Full Text: https://doi.org/10.1111/j.1469-1809.1982.tb00689.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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Dumont, M.-D., Tapon-Bretaudiere, J., Fischer, A.-M., Bros, A., Chassevent, J., Aufeuvre, J.-P.
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<strong>Prothrombin Poissy: a new variant of human prothrombin.</strong>
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Brit. J. Haemat. 66: 239-243, 1987.
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[PubMed: 3606959]
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[Full Text: https://doi.org/10.1111/j.1365-2141.1987.tb01305.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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Girolami, A.
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<strong>The hereditary transmission of congenital 'true' hypoprothrombinaemia.</strong>
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Brit. J. Haemat. 21: 695-704, 1971.
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[PubMed: 5132950]
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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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Girolami, A., Bareggi, G., Brunetti, A., Sticchi, A.
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<strong>Prothrombin Padua: a new congenital dysprothrombinemia.</strong>
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J. Lab. Clin. Med. 84: 654-666, 1974.
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[PubMed: 4283787]
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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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Girolami, A., Scarano, L., Saggiorato, G., Girolami, B., Bertomoro, A., Marchiori, A.
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<strong>Congenital deficiencies and abnormalities of prothrombin.</strong>
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Blood Coagul. Fibrinolysis 9: 557-569, 1998.
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[PubMed: 9863703]
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[Full Text: https://doi.org/10.1097/00001721-199810000-00001]
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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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Inomoto, T., Shirakami, A., Kawauchi, S., Shigekiyo, T., Saito, S., Miyoshi, K., Morita, T., Iwanaga, S.
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<strong>Prothrombin Tokushima: characterization of dysfunctional thrombin derived from a variant of human prothrombin.</strong>
|
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Blood 69: 565-569, 1987.
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[PubMed: 3801671]
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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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Iwahana, H., Yoshimoto, K., Shigekiyo, T., Shirakami, A., Saito, S., Itakura, M.
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<strong>Detection of a single base substitution of the gene for prothrombin Tokushima: the application of PCR-SSCP for the genetic and molecular analysis of dysprothrombinemia.</strong>
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Int. J. Hemat. 55: 93-100, 1992.
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[PubMed: 1349838]
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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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Iwahana, H., Yoshimoto, K., Shigekiyo, T., Shirakami, A., Saito, S., Itakura, M.
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<strong>Molecular and genetic analysis of a compound heterozygote for dysprothrombinemia of prothrombin Tokushima and hypoprothrombinemia.</strong>
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Am. J. Hum. Genet. 51: 1386-1395, 1992.
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[PubMed: 1334372]
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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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Josso, F., Monasterio De Sanchez, J., Lavergne, J. M., Menache, D., Soulier, J. P.
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<strong>Congenital abnormality of the prothrombin molecule (factor II) in four siblings: prothrombin Barcelona.</strong>
|
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Blood 38: 9-16, 1971.
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[PubMed: 4997605]
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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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Josso, F., Rio, Y., Beguin, S.
|
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<strong>A new variant of human prothrombin: prothrombin Metz, demonstration in a family showing double heterozygosity for congenital hypoprothrombinemia and dysprothrombinemia.</strong>
|
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Haemostasis 12: 309-316, 1982.
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[PubMed: 7152370]
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[Full Text: https://doi.org/10.1159/000214689]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Josso, P., Prou-Wartelle, O., Soulier, J.-P.
|
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<strong>Etude d'un cas d'hypoprothrombinemie congenitale.</strong>
|
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Nouv. Rev. Franc. Hemat. 2: 647-672, 1962.
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[PubMed: 14042011]
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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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Kattlove, H. E., Shapiro, S. S., Spivack, M.
|
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<strong>Hereditary prothrombin deficiency.</strong>
|
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New Eng. J. Med. 282: 57-61, 1970.
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[PubMed: 4982446]
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[Full Text: https://doi.org/10.1056/NEJM197001082820202]
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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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Lancellotti, S., De Cristofaro, R.
|
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<strong>Congenital prothrombin deficiency.</strong>
|
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Semin. Thromb. Hemost. 35: 367-381, 2009.
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[PubMed: 19598065]
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[Full Text: https://doi.org/10.1055/s-0029-1225759]
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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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Lanchantin, G. F., Hart, D. W., Friedmann, J. A., Saavedra, N. V., Mehl, J. W.
|
|
<strong>Amino acid composition of human plasma prothrombin.</strong>
|
|
J. Biol. Chem. 243: 5479-5485, 1968.
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[PubMed: 5752075]
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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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Lefkowitz, J. B., Haver, T., Clarke, S., Jacobson, L., Weller, A., Nuss, R., Manco-Johnson, M., Hathaway, W. E.
|
|
<strong>The prothrombin Denver patient has two different prothrombin point mutations resulting in glu300-to-lys and glu309-to-lys substitutions.</strong>
|
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Brit. J. Haemat. 108: 182-187, 2000.
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[PubMed: 10651742]
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[Full Text: https://doi.org/10.1046/j.1365-2141.2000.01810.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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Lutze, G., Frick, U., Topfer, G., Urbahn, H.
|
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<strong>Hereditaere Dysprothrombinaemie mit geringer Blutungsneigung (Prothrombin Magdeburg).</strong>
|
|
Dtsch. Med. Wschr. 114: 288-292, 1989.
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[PubMed: 2920673]
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[Full Text: https://doi.org/10.1055/s-2008-1066590]
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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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Meeks, S. L., Abshire, T. C.
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Montgomery, R. R., Corrigan, J. J., Clarke, S., Johnson, J.
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<strong>Prothrombin Himi: a compound heterozygote for two dysfunctional prothrombin molecules (met-337-to-thr and arg-388-to-his).</strong>
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Blood 80: 2275-2280, 1992.
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Thromb. Diath. Haemorrh. 8: 235-240, 1962.
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<strong>Activation of prothrombin Barcelona: evidence for active high molecular weight intermediates.</strong>
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Biochim. Biophys. Acta 584: 66-75, 1979.
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<strong>Thrombin Metz: characterization of the dysfunctional thrombin derived from a variant of human prothrombin.</strong>
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Blood 63: 927-934, 1984.
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Rocha, E., Paramo, J. A., Bascones, C., Fisac, P. R., Cuesta, B., Fernandez, J.
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<strong>Prothrombin Segovia: a new congenital abnormality of prothrombin.</strong>
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Scand. J. Haemat. 36: 444-449, 1986.
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Rubio, R., Almagro, D., Cruz, A., Corral, J. F.
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<strong>Prothrombin Habana: a new dysfunctional molecule of human prothrombin associated with a true prothrombin deficiency.</strong>
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Brit. J. Haemat. 54: 553-560, 1983.
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Segal, J. B., Brotman, D. J., Necochea, A. J., Emadi, A., Samal, L., Wilson, L. M., Crim, M. T., Bass, E. B.
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<strong>Predictive value of factor V Leiden and prothrombin G20210A in adults with venous thromboembolism and in family members of those with a mutation: a systematic review.</strong>
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Shapiro, S. S., Maldonado, N. I., Fradera, J., McCord, S.
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<strong>Prothrombin San Juan: a complex new dysprothrombinemia. (Abstract)</strong>
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J. Clin. Invest. 53: 73A only, 1974.
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Shapiro, S. S., Martinez, J., Holburn, R. R.
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<strong>Congenital dysprothrombinemia: an inherited structural disorder of human prothrombin.</strong>
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J. Clin. Invest. 48: 2251-2259, 1969.
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Shirakami, A., Kawauchi, S.
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<strong>Congenital dysprothrombinemia.</strong>
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Acta Haemat. Jpn. 47: 1697-1704, 1984.
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Shirakami, A., Kawauchi, S., Shigekiyo, T., Ono, H., Kataoka, K., Miyoshi, K., Yura, Y.
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<strong>Prothrombin Tokushima: a family with heterozygosity for dysprothrombin and hypoprothrombin. (Abstract)</strong>
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Acta Haemat. Jpn. 46: 589 only, 1983.
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Smith, L. G., Coone, L. A. H., Kitchens, C. S.
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<strong>Prothrombin Gainesville: a dysprothrombinemia in a pair of identical twins.</strong>
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Am. J. Hemat. 11: 223-231, 1981.
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Valls-de-Ruiz, M., Ruiz-Arguelles, A., Ruiz-Arguelles, G. J., Ambriz, R.
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<strong>Prothrombin 'Mexico City,' an asymptomatic autosomal dominant prothrombin variant.</strong>
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<p class="mim-text-font">
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Van Creveld, S.
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<strong>Congenital idiopathic hypoprothrombinemia.</strong>
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Acta Paediat. Suppl. 43: 245-255, 1954.
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[PubMed: 13228032]
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[Full Text: https://doi.org/10.1111/j.1651-2227.1954.tb15475.x]
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<p class="mim-text-font">
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Weinger, R. S., Rudy, C., Moake, J. L., Olson, J. D., Cimo, P. L.
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<strong>Prothrombin Houston: a dysprothrombin identifiable by crossed immunoelectrofocusing and abnormal Echis carinatus venom activation.</strong>
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Blood 55: 811-816, 1980.
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[PubMed: 7362870]
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