2798 lines
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Entry
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- #227400 - FACTOR V DEFICIENCY
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- OMIM
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<p>
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<span class="h4">#227400</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/227400"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#history">History</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="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</span>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=(FACTOR V DEFICIENCY) OR (F5)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=926&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/2709" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/factor-v-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.ncbi.nlm.nih.gov/gtr/all/tests/?term=227400[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=326" 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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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:2216" 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/227400" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:2216" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:227400" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</div>
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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> 88776002<br />
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<strong>ICD10CM:</strong> D68.2<br />
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<strong>ORPHA:</strong> 326<br />
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<strong>DO:</strong> 2216<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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227400
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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FACTOR V DEFICIENCY
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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PARAHEMOPHILIA<br />
|
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OWREN PARAHEMOPHILIA<br />
|
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LABILE FACTOR DEFICIENCY
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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Location
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1404?start=-3&limit=10&highlight=1404">
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1q24.2
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</a>
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</span>
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</td>
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<span class="mim-font">
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Factor V deficiency
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<span class="mim-font">
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<a href="/entry/227400"> 227400 </a>
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</td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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F5
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<span class="mim-font">
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<a href="/entry/612309"> 612309 </a>
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</tr>
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<a href="/clinicalSynopsis/227400" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/227400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/227400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- 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 />
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<span class="h5 mim-font">
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<strong> HEMATOLOGY </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Bleeding episodes (epistaxis, menorrhagia, ecchymosis) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673578&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673578</a>]</span><br /> -
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Factor V deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88776002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88776002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4320005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4320005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D68.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D68.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015499&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015499</a>, <a href="https://bioportal.bioontology.org/search?q=C4317320&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4317320</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003225</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003225</a>]</span><br /> -
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Prolonged bleeding <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673579&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673579</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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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </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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- Prolonged activated partial thromboplastin time (APTT) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837411</a>]</span> <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">[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 /> -
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Prolonged prothrombin time (PT) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673577&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673577</a>]</span> <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">[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 />
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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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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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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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- Incidence of 1 in 1,000,000<br /> -
|
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Heterozygotes are usually asymptomatic<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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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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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 V gene (F5, <a href="/entry/612309#0004">612309.0004</a>)<br />
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</span>
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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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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because factor V deficiency, also known as parahemophilia, is caused by homozygous or compound heterozygous mutation in the gene encoding coagulation factor V (F5; <a href="/entry/612309">612309</a>) on chromosome 1q24.</p>
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<br />
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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>
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<span class="mim-text-font">
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<p>Factor V deficiency is a rare autosomal recessive bleeding disorder with variable phenotypic expression (summary by <a href="#13" class="mim-tip-reference" title="van Wijk, R., Nieuwenhuis, K., van den Berg, M., Huizinga, E. G., van der Meijden, B. B., Kraaijenhagen, R. J., van Solinge, W. W. <strong>Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency.</strong> Blood 98: 358-367, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11435304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11435304</a>] [<a href="https://doi.org/10.1182/blood.v98.2.358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11435304">van Wijk et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11435304" 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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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Clinical Features</strong>
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<p><a href="#9" class="mim-tip-reference" title="Owren, P. <strong>Parahaemophilia: haemorrhagic diathesis due to absence of a previously unknown clotting factor.</strong> Lancet 249: 446-448, 1947. Note: Originally Volume 1.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20293060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20293060</a>]" pmid="20293060">Owren (1947)</a> described a haemorrhagic diathesis, which he referred to as 'parahemophilia,' due to the absence of a previously unknown clotting factor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20293060" 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="#7" class="mim-tip-reference" title="Kingsley, C. S. <strong>Familial factor V deficiency: the pattern of heredity.</strong> Quart. J. Med. 23: 323-329, 1954.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13194849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13194849</a>]" pmid="13194849">Kingsley (1954)</a> and <a href="#10" class="mim-tip-reference" title="Seibert, R. H., Margolius, A., Jr., Ratnoff, O. D. <strong>Observations on hemophilia, parahemophilia and coexistent hemophilia and parahemophilia. Alterations in the platelets and the thromboplastin generation test.</strong> J. Lab. Clin. Med. 52: 449-462, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13575936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13575936</a>]" pmid="13575936">Seibert et al. (1958)</a> reported familial factor V deficiency in a consanguineous kindreds, indicating autosomal recessive inheritance. <a href="#10" class="mim-tip-reference" title="Seibert, R. H., Margolius, A., Jr., Ratnoff, O. D. <strong>Observations on hemophilia, parahemophilia and coexistent hemophilia and parahemophilia. Alterations in the platelets and the thromboplastin generation test.</strong> J. Lab. Clin. Med. 52: 449-462, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13575936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13575936</a>]" pmid="13575936">Seibert et al. (1958)</a> observed consistently prolonged bleeding and clotting times in affected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13575936+13194849" 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="#14" class="mim-tip-reference" title="Yoshioka, D., Fujimura, Y., Kitawaki, T., Sumida, H., Kawahara, K. <strong>A case of congenital factor V deficiency: report of case and review of 28 reported cases in Japan.</strong> Jpn. J. Clin. Haemat. 16: 953-962, 1975."None>Yoshioka et al. (1975)</a> stated that 28 cases of factor V deficiency had been recorded in Japan.</p><p><a href="#8" class="mim-tip-reference" title="Mitterstieler, G., Muller, W., Geir, W. <strong>Congenital factor V deficiency: a family study.</strong> Scand. J. Haemat. 21: 9-13, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/694421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">694421</a>]" pmid="694421">Mitterstieler et al. (1978)</a> reported a 14-month-old girl with a tendency toward heavy bleeding caused by severe isolated congenital factor V deficiency. Ten of 56 examined family members had factor V levels ranging from 26 to 60% of normal; these were classified as heterozygotes. The case histories of the heterozygotes did not reveal a bleeding tendency. <a href="#8" class="mim-tip-reference" title="Mitterstieler, G., Muller, W., Geir, W. <strong>Congenital factor V deficiency: a family study.</strong> Scand. J. Haemat. 21: 9-13, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/694421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">694421</a>]" pmid="694421">Mitterstieler et al. (1978)</a> concluded that the inheritance of this factor V deficiency is autosomal recessive, with varying expressivity in heterozygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=694421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Chiu, H. C., Whitaker, E., Colman, R. W. <strong>Heterogeneity of human factor V deficiency: evidence for the existence of antigen-positive variants.</strong> J. Clin. Invest. 72: 493-503, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6348091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6348091</a>] [<a href="https://doi.org/10.1172/jci110997" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6348091">Chiu et al. (1983)</a> identified 4 individuals with factor V deficiency and a variant form of the factor V molecule that reacted with a polyclonal rabbit antibody, but not with the naturally occurring antibody. In all, 14 patients with congenital factor V deficiency were studied. In 10, factor V antigen and coagulant activity were both decreased compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6348091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Fischer, R. R., Pereira, W. V., Pereira, D. V., Roisenberg, I. <strong>Inherited factor V deficiency: study of a Brazilian family.</strong> Hum. Hered. 34: 226-230, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6479988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6479988</a>] [<a href="https://doi.org/10.1159/000153468" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6479988">Fischer et al. (1984)</a> found an inbred Brazilian kindred, located because 2 affected persons had the same surname, with multiple cases of isolated factor V deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6479988" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Ehrenforth, S., Klarmann, D., Zabel, B., Scharrer, I., Kreuz, W. <strong>Severe factor V deficiency presenting as subdural haematoma in the newborn.</strong> Europ. J. Pediat. 157: 1032-1038, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9877047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9877047</a>] [<a href="https://doi.org/10.1007/s004310050993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9877047">Ehrenforth et al. (1998)</a> described severe factor V deficiency presenting as a subdural hematoma in the newborn. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9877047" 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="#5" class="mim-tip-reference" title="Guasch, J. F., Cannegieter, S., Reitsma, P. H., van't Veer-Korthof, E. T., Bertina, R. M. <strong>Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene.</strong> Brit. J. Haemat. 101: 32-39, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9576178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9576178</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1998.00664.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9576178">Guasch et al. (1998)</a> reported a girl, born of consanguineous parents, who presented at age 3 years with prolonged bleeding from a cut in her upper lip after trauma. Routine clotting tests showed prolonged activated partial thromboplastin time (aPTT) and prothrombin time (PT). Essentially no plasma factor V activity or antigen could be detected in plasma. At age 7 years, she had never had a bleed that necessitated therapy, although minor injuries sometimes resulted in prolonged bleeding. Her only other symptom was easy bruising. The patient's father had undergone many surgical procedures without any bleeding complications, but her mother had excessive bleeding after tooth extractions and childbirth. aPTTs and PTs of the parents were within the normal range. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9576178" 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="#13" class="mim-tip-reference" title="van Wijk, R., Nieuwenhuis, K., van den Berg, M., Huizinga, E. G., van der Meijden, B. B., Kraaijenhagen, R. J., van Solinge, W. W. <strong>Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency.</strong> Blood 98: 358-367, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11435304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11435304</a>] [<a href="https://doi.org/10.1182/blood.v98.2.358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11435304">Van Wijk et al. (2001)</a> reported a 19-year-old Korean woman with severe factor V deficiency. She developed bleeding of the soft tissue of the mouth at the age of 19 months, experienced a large subdural hematoma at the age of 4 years, and suffered soft tissue bleeds of the mouth, epistaxis, and hematomas for which she received fresh frozen plasma once every 3 months. In recent years her bleeding pattern changed to spontaneous muscle bleedings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11435304" 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="#13" class="mim-tip-reference" title="van Wijk, R., Nieuwenhuis, K., van den Berg, M., Huizinga, E. G., van der Meijden, B. B., Kraaijenhagen, R. J., van Solinge, W. W. <strong>Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency.</strong> Blood 98: 358-367, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11435304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11435304</a>] [<a href="https://doi.org/10.1182/blood.v98.2.358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11435304">Van Wijk et al. (2001)</a> also reported a 15-year-old girl from Morocco, the daughter of first-cousin parents, with severe factor V deficiency with F5 activity less than 1%. The patient was identified in the course of family screening. A 23-year-old brother, previously described by <a href="#11" class="mim-tip-reference" title="Tanis, B. C., van der Meer, F. J., Bloem, R. M., Vlasveld, L. T. <strong>Successful excision of a pseudotumour in a congenitally factor V deficient patient.</strong> Brit. J. Haemat. 100: 380-382, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9488630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9488630</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1998.00570.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9488630">Tanis et al. (1998)</a>, also had severe factor V deficiency and prolonged bleeding after injuries. Both patients were homozygous for a mutation in the F5 gene (<a href="/entry/612309#0008">612309.0008</a>) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11435304+9488630" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of factor V deficiency in the families studied by <a href="#7" class="mim-tip-reference" title="Kingsley, C. S. <strong>Familial factor V deficiency: the pattern of heredity.</strong> Quart. J. Med. 23: 323-329, 1954.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13194849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13194849</a>]" pmid="13194849">Kingsley (1954)</a>, <a href="#10" class="mim-tip-reference" title="Seibert, R. H., Margolius, A., Jr., Ratnoff, O. D. <strong>Observations on hemophilia, parahemophilia and coexistent hemophilia and parahemophilia. Alterations in the platelets and the thromboplastin generation test.</strong> J. Lab. Clin. Med. 52: 449-462, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13575936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13575936</a>]" pmid="13575936">Seibert et al. (1958)</a>, <a href="#8" class="mim-tip-reference" title="Mitterstieler, G., Muller, W., Geir, W. <strong>Congenital factor V deficiency: a family study.</strong> Scand. J. Haemat. 21: 9-13, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/694421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">694421</a>]" pmid="694421">Mitterstieler et al. (1978)</a>, <a href="#3" class="mim-tip-reference" title="Fischer, R. R., Pereira, W. V., Pereira, D. V., Roisenberg, I. <strong>Inherited factor V deficiency: study of a Brazilian family.</strong> Hum. Hered. 34: 226-230, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6479988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6479988</a>] [<a href="https://doi.org/10.1159/000153468" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6479988">Fischer et al. (1984)</a>, <a href="#13" class="mim-tip-reference" title="van Wijk, R., Nieuwenhuis, K., van den Berg, M., Huizinga, E. G., van der Meijden, B. B., Kraaijenhagen, R. J., van Solinge, W. W. <strong>Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency.</strong> Blood 98: 358-367, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11435304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11435304</a>] [<a href="https://doi.org/10.1182/blood.v98.2.358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11435304">Van Wijk et al. (2001)</a>, and others was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6479988+11435304+13575936+694421+13194849" 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 a patient with factor V deficiency, <a href="#5" class="mim-tip-reference" title="Guasch, J. F., Cannegieter, S., Reitsma, P. H., van't Veer-Korthof, E. T., Bertina, R. M. <strong>Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene.</strong> Brit. J. Haemat. 101: 32-39, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9576178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9576178</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1998.00664.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9576178">Guasch et al. (1998)</a> identified a homozygous mutation in the F5 gene (<a href="/entry/612309#0004">612309.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9576178" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Korean woman with factor V deficiency, <a href="#13" class="mim-tip-reference" title="van Wijk, R., Nieuwenhuis, K., van den Berg, M., Huizinga, E. G., van der Meijden, B. B., Kraaijenhagen, R. J., van Solinge, W. W. <strong>Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency.</strong> Blood 98: 358-367, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11435304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11435304</a>] [<a href="https://doi.org/10.1182/blood.v98.2.358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11435304">van Wijk et al. (2001)</a> identified compound heterozygosity for 2 mutations in the F5 gene (<a href="/entry/612309#0006">612309.0006</a>; <a href="/entry/612309#0007">612309.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11435304" 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="#15" class="mim-tip-reference" title="Zehnder, J. L., Hiraki, D. D., Jones, C. D., Gross, N., Grumet, F. C. <strong>Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford.</strong> Thromb. Haemost. 82: 1097-1099, 1999. Note: Erratum: Thromb. Haemost. 82: XII, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10494770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10494770</a>]" pmid="10494770">Zehnder et al. (1999)</a> pointed out that homozygous factor V deficiency is rare, approximately 1 in a million. On this basis, heterozygotes should have a frequency of 1 in 1,000. Heterozygous deficiency states are generally unrecognized because of a lack of significant clotting time prolongation or bleeding risk. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10494770" 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="#6" class="mim-tip-reference" title="Hurtubise, P. E., Coots, M. C., Jacob, D. J., Muhleman, A. F., Glueck, I. <strong>A monoclonal IgG(4)-gamma with factor V inhibitory activity.</strong> J. Immun. 122: 2119-2221, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/109525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">109525</a>]" pmid="109525">Hurtubise et al. (1979)</a> isolated an immunoglobulin with the characteristics of a monoclonal antibody against factor V from the serum of a patient with a fatal hemorrhagic diathesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=109525" 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="#Friedman1961" class="mim-tip-reference" title="Friedman, I. A., Quick, A. J., Higgins, F., Hussey, C. V., Hickey, M. E. <strong>Hereditary labile factor (factor V) deficiency.</strong> JAMA 175: 370-374, 1961.">Friedman et al. (1961)</a>; <a href="#Tracy1984" class="mim-tip-reference" title="Tracy, P. B., Giles, A. R., Mann, K. G., Eide, L. L., Hoogendoorn, H., Rivard, G. E. <strong>Factor V (Quebec): a bleeding diathesis associated with a qualitative platelet factor V deficiency.</strong> J. Clin. Invest. 74: 1221-1228, 1984.">Tracy et al. (1984)</a>
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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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<a id="Chiu1983" class="mim-anchor"></a>
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<p class="mim-text-font">
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Chiu, H. C., Whitaker, E., Colman, R. W.
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[<a href="https://doi.org/10.1172/jci110997" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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[<a href="https://doi.org/10.1007/s004310050993" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Fischer1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Fischer, R. R., Pereira, W. V., Pereira, D. V., Roisenberg, I.
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<strong>Inherited factor V deficiency: study of a Brazilian family.</strong>
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Hum. Hered. 34: 226-230, 1984.
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[<a href="https://doi.org/10.1159/000153468" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Friedman1961" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Friedman, I. A., Quick, A. J., Higgins, F., Hussey, C. V., Hickey, M. E.
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<strong>Hereditary labile factor (factor V) deficiency.</strong>
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JAMA 175: 370-374, 1961.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13702009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13702009</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13702009" 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.1961.03040050026006" target="_blank">Full Text</a>]
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<a id="Guasch1998" class="mim-anchor"></a>
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<p class="mim-text-font">
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Guasch, J. F., Cannegieter, S., Reitsma, P. H., van't Veer-Korthof, E. T., Bertina, R. M.
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<strong>Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene.</strong>
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Brit. J. Haemat. 101: 32-39, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9576178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9576178</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9576178" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1365-2141.1998.00664.x" target="_blank">Full Text</a>]
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<a id="Hurtubise1979" class="mim-anchor"></a>
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Hurtubise, P. E., Coots, M. C., Jacob, D. J., Muhleman, A. F., Glueck, I.
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<strong>A monoclonal IgG(4)-gamma with factor V inhibitory activity.</strong>
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J. Immun. 122: 2119-2221, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/109525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">109525</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=109525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Kingsley1954" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kingsley, C. S.
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<strong>Familial factor V deficiency: the pattern of heredity.</strong>
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Quart. J. Med. 23: 323-329, 1954.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13194849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13194849</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13194849" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Mitterstieler1978" class="mim-anchor"></a>
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Mitterstieler, G., Muller, W., Geir, W.
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<strong>Congenital factor V deficiency: a family study.</strong>
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Scand. J. Haemat. 21: 9-13, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/694421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">694421</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=694421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Owren1947" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Owren, P.
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<strong>Parahaemophilia: haemorrhagic diathesis due to absence of a previously unknown clotting factor.</strong>
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Lancet 249: 446-448, 1947. Note: Originally Volume 1.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20293060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20293060</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20293060" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Seibert1958" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Seibert, R. H., Margolius, A., Jr., Ratnoff, O. D.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13575936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13575936</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13575936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9488630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9488630</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9488630" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1365-2141.1998.00570.x" target="_blank">Full Text</a>]
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<a id="Tracy1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tracy, P. B., Giles, A. R., Mann, K. G., Eide, L. L., Hoogendoorn, H., Rivard, G. E.
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<strong>Factor V (Quebec): a bleeding diathesis associated with a qualitative platelet factor V deficiency.</strong>
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J. Clin. Invest. 74: 1221-1228, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6480825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6480825</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6480825" 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/10.1172/JCI111531" target="_blank">Full Text</a>]
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<a id="van Wijk2001" class="mim-anchor"></a>
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van Wijk, R., Nieuwenhuis, K., van den Berg, M., Huizinga, E. G., van der Meijden, B. B., Kraaijenhagen, R. J., van Solinge, W. W.
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[<a href="https://doi.org/10.1182/blood.v98.2.358" target="_blank">Full Text</a>]
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<a id="Yoshioka1975" class="mim-anchor"></a>
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<p class="mim-text-font">
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Yoshioka, D., Fujimura, Y., Kitawaki, T., Sumida, H., Kawahara, K.
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<strong>A case of congenital factor V deficiency: report of case and review of 28 reported cases in Japan.</strong>
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<a id="Zehnder1999" class="mim-anchor"></a>
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Zehnder, J. L., Hiraki, D. D., Jones, C. D., Gross, N., Grumet, F. C.
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<strong>Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10494770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10494770</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10494770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 04/02/2020
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Cassandra L. Kniffin - reorganized : 10/8/2008<br>Cassandra L. Kniffin - updated : 9/24/2008<br>George E. Tiller - updated : 10/5/2006<br>Victor A. McKusick - updated : 9/28/2006<br>Victor A. McKusick - updated : 6/8/2006<br>Cassandra L. Kniffin - updated : 6/10/2005<br>Cassandra L. Kniffin - updated : 1/4/2005<br>Victor A. McKusick - updated : 8/24/2004<br>Marla J. F. O'Neill - updated : 4/30/2004<br>Marla J. F. O'Neill - updated : 3/11/2004<br>Victor A. McKusick - updated : 1/23/2004<br>Victor A. McKusick - updated : 12/23/2003<br>Victor A. McKusick - updated : 3/12/2003<br>Victor A. McKusick - updated : 3/7/2002<br>Victor A. McKusick - updated : 12/13/2001<br>Victor A. McKusick - updated : 10/9/2001<br>Victor A. McKusick - updated : 8/30/2001<br>Victor A. McKusick - updated : 2/14/2001<br>Victor A. McKusick - updated : 10/23/2000<br>Victor A. McKusick - updated : 2/15/2000<br>Victor A. McKusick - updated : 2/1/2000<br>Victor A. McKusick - updated : 1/19/2000<br>Ada Hamosh - updated : 12/15/1999<br>Victor A. McKusick - updated : 12/13/1999<br>George E. Tiller - updated : 11/16/1999<br>Victor A. McKusick - updated : 9/29/1999<br>Wilson H. Y. Lo - updated : 8/18/1999<br>Victor A. McKusick - updated : 6/17/1999<br>Ada Hamosh - updated : 5/18/1999<br>Ada Hamosh - updated : 5/10/1999<br>Victor A. McKusick - updated : 3/15/1999<br>Victor A. McKusick - updated : 3/2/1999<br>Victor A. McKusick - updated : 2/19/1999<br>Victor A. McKusick - updated : 1/13/1999<br>Victor A. McKusick - updated : 11/13/1998<br>Victor A. McKusick - updated : 7/7/1998<br>Paul Brennan - updated : 6/3/1998<br>Victor A. McKusick - updated : 5/12/1998<br>Paul Brennan - updated : 4/17/1998<br>Victor A. McKusick - updated : 2/13/1998<br>Paul Brennan - updated : 2/2/1998<br>Victor A. McKusick - updated : 12/30/1997<br>Paul Brennan - updated : 11/14/1997<br>Victor A. McKusick - updated : 9/16/1997<br>Victor A. McKusick - updated : 3/20/1997<br>Victor A. McKusick - updated : 3/4/1997
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 04/03/2020
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alopez : 04/02/2020<br>carol : 02/11/2019<br>carol : 05/23/2016<br>terry : 6/3/2009<br>terry : 5/4/2009<br>carol : 11/20/2008<br>carol : 10/8/2008<br>ckniffin : 9/24/2008<br>carol : 7/9/2008<br>terry : 6/6/2008<br>terry : 6/6/2008<br>terry : 9/17/2007<br>carol : 2/9/2007<br>alopez : 10/5/2006<br>carol : 10/3/2006<br>terry : 9/28/2006<br>alopez : 6/9/2006<br>terry : 6/8/2006<br>carol : 6/13/2005<br>ckniffin : 6/10/2005<br>tkritzer : 1/12/2005<br>ckniffin : 1/4/2005<br>tkritzer : 9/2/2004<br>terry : 8/24/2004<br>carol : 6/10/2004<br>carol : 4/30/2004<br>tkritzer : 3/22/2004<br>carol : 3/17/2004<br>tkritzer : 3/11/2004<br>tkritzer : 1/29/2004<br>terry : 1/23/2004<br>cwells : 12/24/2003<br>terry : 12/23/2003<br>carol : 3/21/2003<br>tkritzer : 3/17/2003<br>terry : 3/12/2003<br>cwells : 3/18/2002<br>cwells : 3/15/2002<br>terry : 3/7/2002<br>terry : 3/5/2002<br>carol : 2/19/2002<br>mcapotos : 12/18/2001<br>terry : 12/13/2001<br>carol : 11/14/2001<br>carol : 11/13/2001<br>mcapotos : 10/22/2001<br>terry : 10/9/2001<br>cwells : 9/20/2001<br>cwells : 9/13/2001<br>terry : 8/30/2001<br>alopez : 4/30/2001<br>cwells : 2/20/2001<br>terry : 2/14/2001<br>mcapotos : 2/13/2001<br>mcapotos : 11/6/2000<br>terry : 11/6/2000<br>terry : 10/23/2000<br>mcapotos : 2/18/2000<br>mcapotos : 2/18/2000<br>terry : 2/15/2000<br>mcapotos : 2/14/2000<br>terry : 2/1/2000<br>mcapotos : 1/27/2000<br>terry : 1/19/2000<br>alopez : 12/20/1999<br>mcapotos : 12/17/1999<br>terry : 12/15/1999<br>mcapotos : 12/14/1999<br>terry : 12/13/1999<br>alopez : 11/16/1999<br>mgross : 10/13/1999<br>terry : 9/29/1999<br>carol : 8/18/1999<br>jlewis : 6/23/1999<br>jlewis : 6/23/1999<br>terry : 6/17/1999<br>alopez : 5/24/1999<br>terry : 5/18/1999<br>terry : 5/10/1999<br>mgross : 4/8/1999<br>mgross : 3/31/1999<br>terry : 3/25/1999<br>carol : 3/18/1999<br>terry : 3/15/1999<br>carol : 3/7/1999<br>terry : 3/2/1999<br>carol : 2/22/1999<br>terry : 2/19/1999<br>carol : 1/13/1999<br>terry : 1/13/1999<br>psherman : 1/8/1999<br>carol : 11/13/1998<br>terry : 11/13/1998<br>dkim : 7/24/1998<br>carol : 7/10/1998<br>terry : 7/7/1998<br>carol : 6/3/1998<br>terry : 6/3/1998<br>terry : 6/3/1998<br>terry : 5/12/1998<br>carol : 4/17/1998<br>mark : 2/22/1998<br>terry : 2/13/1998<br>carol : 2/2/1998<br>dholmes : 12/30/1997<br>dholmes : 12/30/1997<br>alopez : 11/26/1997<br>alopez : 11/17/1997<br>alopez : 11/17/1997<br>alopez : 11/14/1997<br>jenny : 9/19/1997<br>terry : 9/16/1997<br>mark : 7/8/1997<br>mark : 3/20/1997<br>terry : 3/19/1997<br>terry : 3/12/1997<br>terry : 3/5/1997<br>mark : 3/4/1997<br>terry : 3/3/1997<br>mark : 12/12/1996<br>terry : 12/10/1996<br>mark : 10/24/1996<br>terry : 10/15/1996<br>mark : 10/3/1996<br>mark : 9/30/1996<br>terry : 9/20/1996<br>terry : 9/9/1996<br>carol : 8/23/1996<br>marlene : 8/2/1996<br>terry : 7/25/1996<br>mark : 2/16/1996<br>mark : 2/13/1996<br>mark : 2/5/1996<br>mark : 1/22/1996<br>joanna : 1/16/1996<br>mark : 1/8/1996<br>joanna : 1/7/1996<br>mark : 9/21/1995<br>carol : 12/20/1994<br>terry : 8/26/1994<br>jason : 6/16/1994<br>mimadm : 4/11/1994<br>carol : 11/12/1993
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<span class="mim-font">
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<strong>#</strong> 227400
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<h3>
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<span class="mim-font">
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FACTOR V DEFICIENCY
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<em>Alternative titles; symbols</em>
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PARAHEMOPHILIA<br />
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OWREN PARAHEMOPHILIA<br />
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LABILE FACTOR DEFICIENCY
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<strong>SNOMEDCT:</strong> 88776002;
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<strong>ICD10CM:</strong> D68.2;
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<strong>ORPHA:</strong> 326;
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<strong>DO:</strong> 2216;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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</th>
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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1q24.2
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<span class="mim-font">
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Factor V deficiency
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<td>
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<span class="mim-font">
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227400
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<td>
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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F5
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</td>
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<td>
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<span class="mim-font">
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612309
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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 factor V deficiency, also known as parahemophilia, is caused by homozygous or compound heterozygous mutation in the gene encoding coagulation factor V (F5; 612309) on chromosome 1q24.</p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</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>Factor V deficiency is a rare autosomal recessive bleeding disorder with variable phenotypic expression (summary by van Wijk et al., 2001). </p>
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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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<p>Owren (1947) described a haemorrhagic diathesis, which he referred to as 'parahemophilia,' due to the absence of a previously unknown clotting factor. </p><p>Kingsley (1954) and Seibert et al. (1958) reported familial factor V deficiency in a consanguineous kindreds, indicating autosomal recessive inheritance. Seibert et al. (1958) observed consistently prolonged bleeding and clotting times in affected individuals. </p><p>Yoshioka et al. (1975) stated that 28 cases of factor V deficiency had been recorded in Japan.</p><p>Mitterstieler et al. (1978) reported a 14-month-old girl with a tendency toward heavy bleeding caused by severe isolated congenital factor V deficiency. Ten of 56 examined family members had factor V levels ranging from 26 to 60% of normal; these were classified as heterozygotes. The case histories of the heterozygotes did not reveal a bleeding tendency. Mitterstieler et al. (1978) concluded that the inheritance of this factor V deficiency is autosomal recessive, with varying expressivity in heterozygotes. </p><p>Chiu et al. (1983) identified 4 individuals with factor V deficiency and a variant form of the factor V molecule that reacted with a polyclonal rabbit antibody, but not with the naturally occurring antibody. In all, 14 patients with congenital factor V deficiency were studied. In 10, factor V antigen and coagulant activity were both decreased compared to controls. </p><p>Fischer et al. (1984) found an inbred Brazilian kindred, located because 2 affected persons had the same surname, with multiple cases of isolated factor V deficiency. </p><p>Ehrenforth et al. (1998) described severe factor V deficiency presenting as a subdural hematoma in the newborn. </p><p>Guasch et al. (1998) reported a girl, born of consanguineous parents, who presented at age 3 years with prolonged bleeding from a cut in her upper lip after trauma. Routine clotting tests showed prolonged activated partial thromboplastin time (aPTT) and prothrombin time (PT). Essentially no plasma factor V activity or antigen could be detected in plasma. At age 7 years, she had never had a bleed that necessitated therapy, although minor injuries sometimes resulted in prolonged bleeding. Her only other symptom was easy bruising. The patient's father had undergone many surgical procedures without any bleeding complications, but her mother had excessive bleeding after tooth extractions and childbirth. aPTTs and PTs of the parents were within the normal range. </p><p>Van Wijk et al. (2001) reported a 19-year-old Korean woman with severe factor V deficiency. She developed bleeding of the soft tissue of the mouth at the age of 19 months, experienced a large subdural hematoma at the age of 4 years, and suffered soft tissue bleeds of the mouth, epistaxis, and hematomas for which she received fresh frozen plasma once every 3 months. In recent years her bleeding pattern changed to spontaneous muscle bleedings. </p><p>Van Wijk et al. (2001) also reported a 15-year-old girl from Morocco, the daughter of first-cousin parents, with severe factor V deficiency with F5 activity less than 1%. The patient was identified in the course of family screening. A 23-year-old brother, previously described by Tanis et al. (1998), also had severe factor V deficiency and prolonged bleeding after injuries. Both patients were homozygous for a mutation in the F5 gene (612309.0008) </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of factor V deficiency in the families studied by Kingsley (1954), Seibert et al. (1958), Mitterstieler et al. (1978), Fischer et al. (1984), Van Wijk et al. (2001), and others was consistent with autosomal recessive inheritance. </p>
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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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</h4>
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<span class="mim-text-font">
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<p>In a patient with factor V deficiency, Guasch et al. (1998) identified a homozygous mutation in the F5 gene (612309.0004). </p><p>In a Korean woman with factor V deficiency, van Wijk et al. (2001) identified compound heterozygosity for 2 mutations in the F5 gene (612309.0006; 612309.0007). </p>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</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>Zehnder et al. (1999) pointed out that homozygous factor V deficiency is rare, approximately 1 in a million. On this basis, heterozygotes should have a frequency of 1 in 1,000. Heterozygous deficiency states are generally unrecognized because of a lack of significant clotting time prolongation or bleeding risk. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hurtubise et al. (1979) isolated an immunoglobulin with the characteristics of a monoclonal antibody against factor V from the serum of a patient with a fatal hemorrhagic diathesis. </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>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
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Friedman et al. (1961); Tracy et al. (1984)
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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>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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Fischer, R. R., Pereira, W. V., Pereira, D. V., Roisenberg, I.
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Friedman, I. A., Quick, A. J., Higgins, F., Hussey, C. V., Hickey, M. E.
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Owren, P.
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<strong>Parahaemophilia: haemorrhagic diathesis due to absence of a previously unknown clotting factor.</strong>
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Seibert, R. H., Margolius, A., Jr., Ratnoff, O. D.
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Yoshioka, D., Fujimura, Y., Kitawaki, T., Sumida, H., Kawahara, K.
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<strong>A case of congenital factor V deficiency: report of case and review of 28 reported cases in Japan.</strong>
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Zehnder, J. L., Hiraki, D. D., Jones, C. D., Gross, N., Grumet, F. C.
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Anne M. Stumpf - updated : 04/02/2020<br>Cassandra L. Kniffin - reorganized : 10/8/2008<br>Cassandra L. Kniffin - updated : 9/24/2008<br>George E. Tiller - updated : 10/5/2006<br>Victor A. McKusick - updated : 9/28/2006<br>Victor A. McKusick - updated : 6/8/2006<br>Cassandra L. Kniffin - updated : 6/10/2005<br>Cassandra L. Kniffin - updated : 1/4/2005<br>Victor A. McKusick - updated : 8/24/2004<br>Marla J. F. O'Neill - updated : 4/30/2004<br>Marla J. F. O'Neill - updated : 3/11/2004<br>Victor A. McKusick - updated : 1/23/2004<br>Victor A. McKusick - updated : 12/23/2003<br>Victor A. McKusick - updated : 3/12/2003<br>Victor A. McKusick - updated : 3/7/2002<br>Victor A. McKusick - updated : 12/13/2001<br>Victor A. McKusick - updated : 10/9/2001<br>Victor A. McKusick - updated : 8/30/2001<br>Victor A. McKusick - updated : 2/14/2001<br>Victor A. McKusick - updated : 10/23/2000<br>Victor A. McKusick - updated : 2/15/2000<br>Victor A. McKusick - updated : 2/1/2000<br>Victor A. McKusick - updated : 1/19/2000<br>Ada Hamosh - updated : 12/15/1999<br>Victor A. McKusick - updated : 12/13/1999<br>George E. Tiller - updated : 11/16/1999<br>Victor A. McKusick - updated : 9/29/1999<br>Wilson H. Y. Lo - updated : 8/18/1999<br>Victor A. McKusick - updated : 6/17/1999<br>Ada Hamosh - updated : 5/18/1999<br>Ada Hamosh - updated : 5/10/1999<br>Victor A. McKusick - updated : 3/15/1999<br>Victor A. McKusick - updated : 3/2/1999<br>Victor A. McKusick - updated : 2/19/1999<br>Victor A. McKusick - updated : 1/13/1999<br>Victor A. McKusick - updated : 11/13/1998<br>Victor A. McKusick - updated : 7/7/1998<br>Paul Brennan - updated : 6/3/1998<br>Victor A. McKusick - updated : 5/12/1998<br>Paul Brennan - updated : 4/17/1998<br>Victor A. McKusick - updated : 2/13/1998<br>Paul Brennan - updated : 2/2/1998<br>Victor A. McKusick - updated : 12/30/1997<br>Paul Brennan - updated : 11/14/1997<br>Victor A. McKusick - updated : 9/16/1997<br>Victor A. McKusick - updated : 3/20/1997<br>Victor A. McKusick - updated : 3/4/1997
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Victor A. McKusick : 6/3/1986
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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