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<meta name="keywords" content="C4317320, disease or syndrome, factor v deficiency, reduced coagulation factor v activity, reduced factor v activity, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Factor V Leiden thrombophilia is characterized by venous thromboembolism (VTE) manifesting most commonly in adults as deep vein thrombosis (DVT) in the legs or pulmonary embolism. Thrombosis in unusual locations is less common. Factors that predispose to VTE in factor V Leiden thrombophilia include: the number of factor V Leiden variant alleles (homozygotes have a much greater thrombotic risk); family history of VTE; presence of coexisting genetic thrombophilic disorders; acquired thrombophilic disorders (e.g., antiphospholipid antibody syndrome, paroxysmal nocturnal hemoglobinuria, myeloproliferative disorders); and circumstantial risk factors (e.g., pregnancy, malignancy, central venous catheters, travel, combined oral contraceptive use and other combined contraceptives, oral hormone replacement therapy [HRT], obesity, leg injury, and advancing age)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1369551
|
||
ConceptID=C4317320
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Factor V deficiency</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1369551</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4317320</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Reduced coagulation factor V activity</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Factor V deficiency (4320005)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003225">HP:0003225</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0020586" target="_blank">MONDO:0020586</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/612309" target="_blank">612309</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
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<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1368" target="_blank">Factor V Leiden Thrombophilia</a></div><div>Factor V Leiden thrombophilia is characterized by venous thromboembolism (VTE) manifesting most commonly in adults as deep vein thrombosis (DVT) in the legs or pulmonary embolism. Thrombosis in unusual locations is less common. Factors that predispose to VTE in factor V Leiden thrombophilia include: the number of factor V Leiden variant alleles (homozygotes have a much greater thrombotic risk); family history of VTE; presence of coexisting genetic thrombophilic disorders; acquired thrombophilic disorders (e.g., antiphospholipid antibody syndrome, paroxysmal nocturnal hemoglobinuria, myeloproliferative disorders); and circumstantial risk factors (e.g., pregnancy, malignancy, central venous catheters, travel, combined oral contraceptive use and other combined contraceptives, oral hormone replacement therapy [HRT], obesity, leg injury, and advancing age). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1368#factor-v-leiden.Summary" target="NBK1368">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1368#factor-v-leiden.Diagnosis" target="NBK1368">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1368#factor-v-leiden.Clinical_Characteristics" target="NBK1368">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1368#factor-v-leiden.Differential_Diagnosis" target="NBK1368">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1368#factor-v-leiden.Management" target="NBK1368">Management</a> | <a class="medgenPMinfo" href="/books/NBK1368#factor-v-leiden.Genetic_Counseling" target="NBK1368">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1368#factor-v-leiden.Resources" target="NBK1368">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1368#factor-v-leiden.Molecular_Genetics" target="NBK1368">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1368#factor-v-leiden.Chapter_Notes" target="NBK1368">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1368#factor-v-leiden.References" target="NBK1368">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Daniele Pastori | Danilo Menichelli | Emanuele Valeriani<i>, et. al.</i> <a href="/books/NBK1368" target="NBK1368" title="NCBI Bookshelf: Factor V Leiden Thrombophilia">view full author information</a></div></div>
|
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</div>
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|
||
<div class="portlet mgSection" id="ID_118">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4317320[DISCUI]&test_type=Clinical" ref="ncbi_uid=1369551">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1369551" target="_blank" href="/omim/612309">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1368/" ref="ncbi_uid=1369551">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1369551" ref="ncbi_uid=1369551">V</a></span></span><span class="TLline">Factor V deficiency</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="TLline"><a href="/medgen/375979" ref="tree=MeSH" title="MedGen record for Abnormality of coagulation">Abnormality of coagulation</a></span><ul><li><span class="TLline"><a href="/medgen/604" ref="tree=MeSH" title="MedGen record for Abnormality of the coagulation cascade">Abnormality of the coagulation cascade</a></span><ul><li><span class="TLline"><a href="/medgen/869187" ref="tree=MeSH" title="MedGen record for Abnormality of the common coagulation pathway">Abnormality of the common coagulation pathway</a></span><ul><li><span class="TLline"><a href="/medgen/1633263" ref="tree=MeSH" title="MedGen record for Abnormal coagulation factor V activity">Abnormal coagulation factor V activity</a></span><ul><li><span class="matched_ds">Factor V deficiency</span><ul><li><span class="TLline"><a href="/medgen/1380582" ref="tree=MeSH" title="MedGen record for Acquired factor V deficiency">Acquired factor V deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/1378842" ref="tree=MeSH" title="MedGen record for Factor V Inactivation">Factor V Inactivation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4633" ref="tree=MeSH" title="MedGen record for Congenital factor V deficiency">Congenital factor V deficiency</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_4633"><div><strong>Congenital factor V deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4633</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0015499</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Factor V deficiency is a rare autosomal recessive bleeding disorder with variable phenotypic expression (summary by van Wijk et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4633">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346462"><div><strong>Factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346462</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1856882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346462">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462239"><div><strong>Factor 5 and Factor VIII, combined deficiency of, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462239</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3150889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined deficiency of factor V and factor VIII type 2 (F5F8D2) is characterized by bleeding symptoms similar to those in hemophilia (306700) or parahemophilia (227400), caused by single deficiency of FV (612309) or FVIII (300841), respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D2 is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by Zhang and Ginsburg, 2004). For a general phenotypic description and a discussion of genetic heterogeneity of F5F8D, see 227300.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462239">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1637212"><div><strong>Factor V and factor VIII, combined deficiency of, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1637212</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined deficiency of factor V and factor VIII (F5F8D1) is characterized by bleeding symptoms similar to those in hemophilia (306700) or parahemophilia (227400), caused by single deficiency of factor V (612309) or factor VIII (300840), respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by Zhang and Ginsburg, 2004). Genetic Heterogeneity of Combined Deficiency of Factor V and Factor VIII Another form of combined deficiency of factor V and factor VIII (F5F8D2; 613625) is caused by mutation in the MCFD2 gene (607788) on chromosome 2p21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1637212">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794196"><div><strong>Congenital disorder of glycosylation, type IIw</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794196</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5561986</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorder of glycosylation type IIw (CDG2W) is an autosomal dominant metabolic disorder characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins. All reported patients carry the same mutation (602671.0017) (summary by Ng et al., 2021). For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794196">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794196" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of glycosylation, type IIw</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_4633" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital factor V deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462239" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Factor 5 and Factor VIII, combined deficiency of, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1637212" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Factor V and factor VIII, combined deficiency of, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346462" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37839151">Treatment of congenital coagulopathies, from biologic to biotechnological drugs: The relevance of gene editing (CRISPR/Cas).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Pablo-Moreno JA,
|
||
Miguel-Batuecas A,
|
||
Rodríguez-Merchán EC,
|
||
Liras A</span><br />
|
||
<span class="medgenPMjournal">Thromb Res</span>
|
||
2023 Nov;231:99-111.
|
||
Epub 2023 Oct 6
|
||
doi: 10.1016/j.thromres.2023.10.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37839151" target="_blank">37839151</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35181237">Perioperative Management of Hereditary Factor V Deficiency: Timing of Plasma Administration is Critical in Maximizing Hemostatic Potency of Transfused Factor V.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tanaka KA,
|
||
VanDyck K,
|
||
Shettar SS,
|
||
Gomes M</span><br />
|
||
<span class="medgenPMjournal">J Cardiothorac Vasc Anesth</span>
|
||
2022 Jun;36(6):1811-1812.
|
||
Epub 2022 Jan 19
|
||
doi: 10.1053/j.jvca.2022.01.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35181237" target="_blank">35181237</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21647534">Molecular basis of hereditary factor V deficiency in India: identification of four novel mutations and their genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chapla A,
|
||
Jayandharan GR,
|
||
Sumitha E,
|
||
Sankari Devi G,
|
||
Shenbagapriya P,
|
||
Nair SC,
|
||
Viswabandya A,
|
||
George B,
|
||
Mathews V,
|
||
Srivastava A</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
2011 Jun;105(6):1120-3.
|
||
Epub 2011 Apr 20
|
||
doi: 10.1160/TH10-11-0767.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21647534" target="_blank">21647534</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22factor%20v%20deficiency%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (13)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.nice.org.uk/guidance/ng158" target="_blank">UK NICE Guideline NG158, Venous thromboembolic diseases: diagnosis, management and thrombophilia testing, 2023</a></h3>
|
||
</div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_114">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33674767">Addendum: American College of Medical Genetics consensus statement on factor V Leiden mutation testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhatt S,
|
||
Taylor AK,
|
||
Lozano R,
|
||
Grody WW,
|
||
Griffin JH;
|
||
ACMG Professional Practice and Guidelines Committee</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2021 Dec;23(12):2463.
|
||
Epub 2021 Mar 5
|
||
doi: 10.1038/s41436-021-01108-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33674767" target="_blank">33674767</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36524891">Combined Liver-Kidney Transplant for Juvenile Polycystic Kidney Disease and Concomitant Hereditary Factor V Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu V,
|
||
Ebrahimi N,
|
||
Cachalia T,
|
||
Jacques A,
|
||
Wyburn K,
|
||
McCaughan GW,
|
||
Dunkley S,
|
||
Crawford MD,
|
||
Pulitano C,
|
||
Laurence JM</span><br />
|
||
<span class="medgenPMjournal">Exp Clin Transplant</span>
|
||
2022 Nov;20(11):1043-1045.
|
||
doi: 10.6002/ect.2022.0229.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36524891" target="_blank">36524891</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29667457">Management of combined factor V and factor VIII deficiency in pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fogarty H,
|
||
Doyle MM,
|
||
Campbell R,
|
||
Keenan C,
|
||
White B,
|
||
Ryan K,
|
||
O'Donnell JS,
|
||
Slevin J,
|
||
O'Keeffe D,
|
||
O'Connell NM,
|
||
Lavin M</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol</span>
|
||
2019 Feb;39(2):271-272.
|
||
Epub 2018 Apr 18
|
||
doi: 10.1080/01443615.2018.1448766.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29667457" target="_blank">29667457</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22102275">Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blavignac J,
|
||
Bunimov N,
|
||
Rivard GE,
|
||
Hayward CP</span><br />
|
||
<span class="medgenPMjournal">Semin Thromb Hemost</span>
|
||
2011 Sep;37(6):713-20.
|
||
Epub 2011 Nov 18
|
||
doi: 10.1055/s-0031-1291382.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22102275" target="_blank">22102275</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8950768">Inherited thrombophilia: Part 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lane DA,
|
||
Mannucci PM,
|
||
Bauer KA,
|
||
Bertina RM,
|
||
Bochkov NP,
|
||
Boulyjenkov V,
|
||
Chandy M,
|
||
Dahlbäck B,
|
||
Ginter EK,
|
||
Miletich JP,
|
||
Rosendaal FR,
|
||
Seligsohn U</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
1996 Nov;76(5):651-62.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8950768" target="_blank">8950768</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7482395">Resistance to activate protein C, the Arg506 to Gln mutation in the factor V gene, and venous thrombosis. Functional tests and DNA-based assays, pros and cons.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dahlbäck B</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
1995 May;73(5):739-42.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7482395" target="_blank">7482395</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Factor%20V%20deficiency%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (128)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36125894">Congenital coagulation factor V deficiency with intracranial hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang J,
|
||
Mao H,
|
||
Sun L</span><br />
|
||
<span class="medgenPMjournal">J Clin Lab Anal</span>
|
||
2022 Nov;36(11):e24705.
|
||
Epub 2022 Sep 20
|
||
doi: 10.1002/jcla.24705.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36125894" target="_blank">36125894</a><a href="/pmc/articles/PMC9701843" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22895292">Combined factor V and factor VIII deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soff GA</span><br />
|
||
<span class="medgenPMjournal">Clin Adv Hematol Oncol</span>
|
||
2012 Jul;10(7):474-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22895292" target="_blank">22895292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21495923">Quebec platelet disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hayward CP,
|
||
Rivard GE</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Hematol</span>
|
||
2011 Apr;4(2):137-41.
|
||
doi: 10.1586/ehm.11.5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21495923" target="_blank">21495923</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3921304">Hereditary coagulopathies in pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caldwell DC,
|
||
Williamson RA,
|
||
Goldsmith JC</span><br />
|
||
<span class="medgenPMjournal">Clin Obstet Gynecol</span>
|
||
1985 Mar;28(1):53-72.
|
||
doi: 10.1097/00003081-198528010-00008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3921304" target="_blank">3921304</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4550185">Parahemophilia. Factor V deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seeler RA</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
1972 Jan;56(1):119-25.
|
||
doi: 10.1016/s0025-7125(16)32427-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4550185" target="_blank">4550185</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Factor%20V%20deficiency%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (195)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38970909">EGFR-TKI-induced Factor V deficiency in a patient with advanced non-small cell lung cancer: The first case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshizaki C,
|
||
Yoshida Y,
|
||
Nohmi S,
|
||
Go Y,
|
||
Kusakado R,
|
||
Kawamura S,
|
||
Inoue D,
|
||
Kabasawa N,
|
||
Yamaguchi F</span><br />
|
||
<span class="medgenPMjournal">Lung Cancer</span>
|
||
2024 Aug;194:107869.
|
||
Epub 2024 Jul 1
|
||
doi: 10.1016/j.lungcan.2024.107869.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38970909" target="_blank">38970909</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36524891">Combined Liver-Kidney Transplant for Juvenile Polycystic Kidney Disease and Concomitant Hereditary Factor V Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu V,
|
||
Ebrahimi N,
|
||
Cachalia T,
|
||
Jacques A,
|
||
Wyburn K,
|
||
McCaughan GW,
|
||
Dunkley S,
|
||
Crawford MD,
|
||
Pulitano C,
|
||
Laurence JM</span><br />
|
||
<span class="medgenPMjournal">Exp Clin Transplant</span>
|
||
2022 Nov;20(11):1043-1045.
|
||
doi: 10.6002/ect.2022.0229.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36524891" target="_blank">36524891</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22102275">Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blavignac J,
|
||
Bunimov N,
|
||
Rivard GE,
|
||
Hayward CP</span><br />
|
||
<span class="medgenPMjournal">Semin Thromb Hemost</span>
|
||
2011 Sep;37(6):713-20.
|
||
Epub 2011 Nov 18
|
||
doi: 10.1055/s-0031-1291382.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22102275" target="_blank">22102275</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/335513">Diffuse intravascular coagulation in liver disease?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Straub PW</span><br />
|
||
<span class="medgenPMjournal">Semin Thromb Hemost</span>
|
||
1977 Summer;4(1):29-39.
|
||
doi: 10.1055/s-0028-1087126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/335513" target="_blank">335513</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14239431">PLASMA PROTHROMBIN ACTIVATION IN HEMORRHAGIC DISORDERS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PENNER JA</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Pathol</span>
|
||
1964 Dec;42:561-71.
|
||
doi: 10.1093/ajcp/42.6.561.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14239431" target="_blank">14239431</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Factor%20V%20deficiency%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (140)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34942668">A Review of Coagulation Abnormalities of Autoimmune Acquired Factor V Deficiency with a Focus on Japan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ichinose A,
|
||
Osaki T,
|
||
Souri M</span><br />
|
||
<span class="medgenPMjournal">Semin Thromb Hemost</span>
|
||
2022 Mar;48(2):206-218.
|
||
Epub 2021 Dec 23
|
||
doi: 10.1055/s-0041-1740149.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34942668" target="_blank">34942668</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15357793">Acquired inhibitor of factor V: first report in China and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu L,
|
||
Liu Y,
|
||
Wei J,
|
||
Zhang L,
|
||
Zhang L,
|
||
Yang R</span><br />
|
||
<span class="medgenPMjournal">Haemophilia</span>
|
||
2004 Sep;10(5):661-4.
|
||
doi: 10.1111/j.1365-2516.2004.01014.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15357793" target="_blank">15357793</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11896308">Acquired FV inhibitors: a needless iatrogenic complication of bovine thrombin exposure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Streiff MB,
|
||
Ness PM</span><br />
|
||
<span class="medgenPMjournal">Transfusion</span>
|
||
2002 Jan;42(1):18-26.
|
||
doi: 10.1046/j.1537-2995.2002.00011.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11896308" target="_blank">11896308</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10097809">Acquired factor V inhibitors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Knöbl P,
|
||
Lechner K</span><br />
|
||
<span class="medgenPMjournal">Baillieres Clin Haematol</span>
|
||
1998 Jun;11(2):305-18.
|
||
doi: 10.1016/s0950-3536(98)80050-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10097809" target="_blank">10097809</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8950768">Inherited thrombophilia: Part 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lane DA,
|
||
Mannucci PM,
|
||
Bauer KA,
|
||
Bertina RM,
|
||
Bochkov NP,
|
||
Boulyjenkov V,
|
||
Chandy M,
|
||
Dahlbäck B,
|
||
Ginter EK,
|
||
Miletich JP,
|
||
Rosendaal FR,
|
||
Seligsohn U</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
1996 Nov;76(5):651-62.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8950768" target="_blank">8950768</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Factor%20V%20deficiency%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (63)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31121608">A Comprehensive Overview of Coagulation Factor V and Congenital Factor V Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tabibian S,
|
||
Shiravand Y,
|
||
Shams M,
|
||
Safa M,
|
||
Gholami MS,
|
||
Heydari F,
|
||
Ahmadi A,
|
||
Rashidpanah J,
|
||
Dorgalaleh A</span><br />
|
||
<span class="medgenPMjournal">Semin Thromb Hemost</span>
|
||
2019 Jul;45(5):523-543.
|
||
Epub 2019 May 23
|
||
doi: 10.1055/s-0039-1687906.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31121608" target="_blank">31121608</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19598067">Combined Factor V and Factor VIII Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spreafico M,
|
||
Peyvandi F</span><br />
|
||
<span class="medgenPMjournal">Semin Thromb Hemost</span>
|
||
2009 Jun;35(4):390-9.
|
||
Epub 2009 Jul 13
|
||
doi: 10.1055/s-0029-1225761.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19598067" target="_blank">19598067</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15357793">Acquired inhibitor of factor V: first report in China and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu L,
|
||
Liu Y,
|
||
Wei J,
|
||
Zhang L,
|
||
Zhang L,
|
||
Yang R</span><br />
|
||
<span class="medgenPMjournal">Haemophilia</span>
|
||
2004 Sep;10(5):661-4.
|
||
doi: 10.1111/j.1365-2516.2004.01014.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15357793" target="_blank">15357793</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6348471">Thrombosis or myocardial infarction in congenital clotting factor abnormalities and chronic thrombocytopenias: a report of 21 patients and a review of 50 previously reported cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goodnough LT,
|
||
Saito H,
|
||
Ratnoff OD</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
1983 Jul;62(4):248-55.
|
||
doi: 10.1097/00005792-198307000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6348471" target="_blank">6348471</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14888058">Idiopathic hypoprothrombinemia; observation on labile factor deficiency. [English summary].</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">VRIES AD,
|
||
RISS E</span><br />
|
||
<span class="medgenPMjournal">Harefuah</span>
|
||
1951 Nov 1;41(9):159-63.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14888058" target="_blank">14888058</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Factor%20V%20deficiency%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (96)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/26376169">Congenital factor V and VIII deficiency in women: a systematic review of literature and report of two new cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spiliopoulos D,
|
||
Kadir RA</span><br />
|
||
<span class="medgenPMjournal">Blood Coagul Fibrinolysis</span>
|
||
2016 Apr;27(3):237-41.
|
||
doi: 10.1097/MBC.0000000000000407.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26376169" target="_blank">26376169</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25275492">Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kulkarni BP,
|
||
Nair SB,
|
||
Vijapurkar M,
|
||
Mota L,
|
||
Shanbhag S,
|
||
Ali S,
|
||
Shetty SD,
|
||
Ghosh K</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2014;9(9):e108683.
|
||
Epub 2014 Oct 2
|
||
doi: 10.1371/journal.pone.0108683.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25275492" target="_blank">25275492</a><a href="/pmc/articles/PMC4183524" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11896308">Acquired FV inhibitors: a needless iatrogenic complication of bovine thrombin exposure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Streiff MB,
|
||
Ness PM</span><br />
|
||
<span class="medgenPMjournal">Transfusion</span>
|
||
2002 Jan;42(1):18-26.
|
||
doi: 10.1046/j.1537-2995.2002.00011.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11896308" target="_blank">11896308</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Factor%20V%20deficiency%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4317320%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (20)</a></li>
|
||
<li><a href="/gtr/tests?term=C4317320%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C4317320%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4317320%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (24)</a></li>
|
||
<li><a href="/gtr/tests?term=C4317320%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4317320%5bDISCUI%5d" target="_blank">See all (34)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Factor%20V%20deficiency" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22factor%20v%20deficiency%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.nice.org.uk/guidance/ng158">NICE, 2023</a><div>UK NICE Guideline NG158, Venous thromboembolic diseases: diagnosis, management and thrombophilia testing, 2023</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Factor%20V%20deficiency" target="_blank">MedlinePlus</a></li></ul></div>
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