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<meta name="keywords" content="C3160733, f13a1, f2, factor ii-related thrombophilia, factor v r2 mutation thrombophilia, finding, habp2, hyperprothrombinemia, mthfr, prothrombin 20210g>a thrombophilia, prothrombin g20210a thrombophilia, prothrombin thrombophilia, prothrombin-related thrombophilia, prothrombin-related thrombophilia (factor ii), thph1, thromboembolism, susceptibility to, thrombophilia 1 due to thrombin defect, thrombophilia due to factor 2 defect, thrombophilia due to thrombin defect, thrombosis susceptibility, thrombosis, protection against, venous thromboembolism, susceptibility to, venous thrombosis, venous thrombosis, protection against, 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="Prothrombin thrombophilia is characterized by venous thromboembolism (VTE) manifest most commonly in adults as deep-vein thrombosis (DVT) in the legs or pulmonary embolism. The clinical expression of prothrombin thrombophilia is variable; many individuals heterozygous or homozygous for the 20210G>A F2 variant never develop thrombosis, and while most heterozygotes who develop thrombotic complications remain asymptomatic until adulthood, some have recurrent thromboembolism before age 30 years. The relative risk for DVT in adults heterozygous for the 20210G>A variant is two- to fivefold increased; in children, the relative risk for thrombosis is three- to fourfold increased. Heterozygosity for 20210G>A has at most a modest effect on recurrence risk after a first episode. Although prothrombin thrombophilia may increase the risk for pregnancy loss, its association with preeclampsia and other complications of pregnancy such as intrauterine growth restriction and placental abruption remains controversial. Factors that predispose to thrombosis in prothrombin thrombophilia include: the number of 20210G>A alleles; presence of coexisting genetic abnormalities including factor V Leiden; and acquired thrombophilic disorders (e.g., antiphospholipid antibodies). Circumstantial risk factors for thrombosis include pregnancy and oral contraceptive use. Some evidence suggests that the risk for VTE in 20210G>A heterozygotes increases after air travel." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=463623
|
||
ConceptID=C3160733
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Thrombophilia due to thrombin defect<span class="h1sub">(THPH1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463623</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:">C3160733</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Factor V R2 Mutation Thrombophilia; Prothrombin-Related Thrombophilia; Prothrombin-Related Thrombophilia (Factor II); THPH1; THROMBOPHILIA DUE TO FACTOR 2 DEFECT; Thrombosis susceptibility</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="F13A1 - ID: 2162 - NCBI Gene" href="/gene/2162" class="medgenPMinfo">F13A1</a> (6p25.1); <a target="_blank" title="F2 - ID: 2147 - NCBI Gene" href="/gene/2147" class="medgenPMinfo">F2</a> (11p11.2); <a target="_blank" title="HABP2 - ID: 3026 - NCBI Gene" href="/gene/3026" class="medgenPMinfo">HABP2</a> (10q25.3); <a target="_blank" title="MTHFR - ID: 4524 - NCBI Gene" href="/gene/4524" class="medgenPMinfo">MTHFR</a> (1p36.22)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/5627">PROS1</a>, <a target="_blank" href="/gene/5624">PROC</a>, <a target="_blank" href="/gene/2153">F5</a>, <a target="_blank" href="/gene/462">SERPINC1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008559" target="_blank">MONDO:0008559</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/188050" target="_blank">188050</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">
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||
<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/NBK1148" target="_blank">Prothrombin Thrombophilia</a></div><div>Prothrombin thrombophilia is characterized by venous thromboembolism (VTE) manifest most commonly in adults as deep-vein thrombosis (DVT) in the legs or pulmonary embolism. The clinical expression of prothrombin thrombophilia is variable; many individuals heterozygous or homozygous for the 20210G>A F2 variant never develop thrombosis, and while most heterozygotes who develop thrombotic complications remain asymptomatic until adulthood, some have recurrent thromboembolism before age 30 years. The relative risk for DVT in adults heterozygous for the 20210G>A variant is two- to fivefold increased; in children, the relative risk for thrombosis is three- to fourfold increased. Heterozygosity for 20210G>A has at most a modest effect on recurrence risk after a first episode. Although prothrombin thrombophilia may increase the risk for pregnancy loss, its association with preeclampsia and other complications of pregnancy such as intrauterine growth restriction and placental abruption remains controversial. Factors that predispose to thrombosis in prothrombin thrombophilia include: the number of 20210G>A alleles; presence of coexisting genetic abnormalities including factor V Leiden; and acquired thrombophilic disorders (e.g., antiphospholipid antibodies). Circumstantial risk factors for thrombosis include pregnancy and oral contraceptive use. Some evidence suggests that the risk for VTE in 20210G>A heterozygotes increases after air travel. [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/NBK1148#ptt.Summary" target="NBK1148">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1148#ptt.Diagnosis" target="NBK1148">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1148#ptt.Clinical_Characteristics" target="NBK1148">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1148#ptt.Genetically_Related_Allelic_Disorder" target="NBK1148">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1148#ptt.Differential_Diagnosis" target="NBK1148">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1148#ptt.Management" target="NBK1148">Management</a> | <a class="medgenPMinfo" href="/books/NBK1148#ptt.Genetic_Counseling" target="NBK1148">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1148#ptt.Resources" target="NBK1148">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1148#ptt.Molecular_Genetics" target="NBK1148">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1148#ptt.Chapter_Notes" target="NBK1148">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1148#ptt.References" target="NBK1148">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Jody L Kujovich <a href="/books/NBK1148" target="NBK1148" title="NCBI Bookshelf: Prothrombin Thrombophilia">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Prothrombin thrombophilia is a disorder that increases the risk of developing blood clots. Thrombophilia is the term used to describe an increased tendency to form blood clots. After an injury, clots protect the body by sealing off damaged blood vessels and preventing further blood loss. People with thrombophilia can develop clots when they are not needed. These clots can block normal blood flow and cause harm.<br /><br />People who have prothrombin thrombophilia have a higher-than-average risk of developing a type of clot called a deep vein thrombosis, which typically occurs in the blood vessels of the arms or legs. People with prothrombin thrombophilia also have an increased risk of developing a pulmonary embolism, which is a clot that travels through the bloodstream and lodges in the lungs. <br /><br />Research suggests that pregnancy loss may be somewhat more likely in people with prothrombin thrombophilia than in those who do not have the condition. Some researchers have suggested that prothrombin thrombophilia may also increase the risk of other complications during pregnancy, though this remains controversial.<br /><br />While many people with prothrombin thrombophilia will never have clotting issues, several factors increase a person's risk of blood clots. Some risk factors that contribute to the development of harmful blood clots include surgery, injury or trauma, air travel, obesity, and a family history of blood clots. Additional risk factors include pregnancy, using contraceptives such as birth control pills or patches that contain estrogen, and receiving post-menopausal hormone replacement therapy. The combination of prothrombin thrombophilia and other clotting disorders may also increase a person's risk. <a target="_blank" href="https://medlineplus.gov/genetics/condition/prothrombin-thrombophilia">https://medlineplus.gov/genetics/condition/prothrombin-thrombophilia</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_11027"><div><strong>Pulmonary embolism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11027</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.">C0034065</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11027">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20embolism%22%5BClinical%20Features%5D%20OR%2011027%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21532"><div><strong>Thromboembolism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21532</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.">C0040038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21532">Feature record</a> | <a href="/medgen?term=%22Thromboembolism%22%5BClinical%20Features%5D%20OR%2021532%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57448"><div><strong>Deep venous thrombosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57448</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.">C0149871</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57448">Feature record</a> | <a href="/medgen?term=%22Deep%20venous%20thrombosis%22%5BClinical%20Features%5D%20OR%2057448%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57743"><div><strong>Cerebral venous thrombosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57743</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.">C0151945</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57743">Feature record</a> | <a href="/medgen?term=%22Cerebral%20venous%20thrombosis%22%5BClinical%20Features%5D%20OR%2057743%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_763064"><div><strong>Recurrent thrombophlebitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>763064</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.">C3550150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/763064">Feature record</a> | <a href="/medgen?term=%22Recurrent%20thrombophlebitis%22%5BClinical%20Features%5D%20OR%20763064%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57743" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral venous thrombosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57448" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deep venous thrombosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_763064" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent thrombophlebitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thromboembolism</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11027" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary embolism</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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=C3160733[DISCUI]&test_type=Clinical" ref="ncbi_uid=463623">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=463623" target="_blank" href="/omim/176930">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1148/" ref="ncbi_uid=463623">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=463623" ref="ncbi_uid=463623">V</a></span></span><span class="TLline">Thrombophilia due to thrombin defect</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0272375[DISCUI]&test_type=Clinical" ref="ncbi_uid=75781">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75781" target="_blank" href="/omim/107300">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75781" ref="ncbi_uid=75781">V</a></span></span><span class="TLline"><a href="/medgen/75781" ref="tree=GTR&ncbi_uid=75781&link_uid=75781" title="View MedGen record for 'Hereditary antithrombin deficiency'">Hereditary antithrombin deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1856059[DISCUI]&test_type=Clinical" ref="ncbi_uid=343468">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343468" target="_blank" href="/omim/236250">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343468" ref="ncbi_uid=343468">V</a></span></span><span class="TLline"><a href="/medgen/343468" ref="tree=GTR&ncbi_uid=343468&link_uid=343468" title="View MedGen record for 'MTHFR THERMOLABILE POLYMORPHISM'">MTHFR THERMOLABILE POLYMORPHISM</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1861171[DISCUI]&test_type=Clinical" ref="ncbi_uid=396074">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=396074" target="_blank" href="/omim/188055">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1368/" ref="ncbi_uid=396074">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=396074" ref="ncbi_uid=396074">V</a></span></span><span class="TLline"><a href="/medgen/396074" ref="tree=GTR&ncbi_uid=396074&link_uid=396074" title="View MedGen record for 'Thrombophilia due to activated protein C resistance'">Thrombophilia due to activated protein C resistance</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2674321[DISCUI]&test_type=Clinical" ref="ncbi_uid=436138">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436138" target="_blank" href="/omim/176860">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436138" ref="ncbi_uid=436138">V</a></span></span><span class="TLline"><a href="/medgen/436138" ref="tree=GTR&ncbi_uid=436138&link_uid=436138" title="View MedGen record for 'Thrombophilia due to protein C deficiency, autosomal dominant'">Thrombophilia due to protein C deficiency, autosomal dominant</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3278211[DISCUI]&test_type=Clinical" ref="ncbi_uid=479841">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=479841" target="_blank" href="/omim/176880">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=479841" ref="ncbi_uid=479841">V</a></span></span><span class="TLline"><a href="/medgen/479841" ref="tree=GTR&ncbi_uid=479841&link_uid=479841" title="View MedGen record for 'Thrombophilia due to protein S deficiency, autosomal dominant'">Thrombophilia due to protein S deficiency, autosomal dominant</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Thrombophilia due to thrombin defect</span><ul><li><span class="TLline"><a href="/medgen/75781" ref="tree=MeSH" title="MedGen record for Hereditary antithrombin deficiency">Hereditary antithrombin deficiency</a></span></li><li><span class="TLline"><a href="/medgen/343468" ref="tree=MeSH" title="MedGen record for MTHFR THERMOLABILE POLYMORPHISM">MTHFR THERMOLABILE POLYMORPHISM</a></span></li><li><span class="TLline"><a href="/medgen/396074" ref="tree=MeSH" title="MedGen record for Thrombophilia due to activated protein C resistance">Thrombophilia due to activated protein C resistance</a></span></li><li><span class="TLline"><a href="/medgen/436138" ref="tree=MeSH" title="MedGen record for Thrombophilia due to protein C deficiency, autosomal dominant">Thrombophilia due to protein C deficiency, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/479841" ref="tree=MeSH" title="MedGen record for Thrombophilia due to protein S deficiency, autosomal dominant">Thrombophilia due to protein S deficiency, autosomal dominant</a></span></li></ul></li></ul></div></div></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/30986390">AGA Clinical Practice Update: Coagulation in Cirrhosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Leary JG,
|
||
Greenberg CS,
|
||
Patton HM,
|
||
Caldwell SH</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2019 Jul;157(1):34-43.e1.
|
||
Epub 2019 Apr 12
|
||
doi: 10.1053/j.gastro.2019.03.070.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30986390" target="_blank">30986390</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19141155">Abnormalities of prothrombin: a review of the pathophysiology, diagnosis, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meeks SL,
|
||
Abshire TC</span><br />
|
||
<span class="medgenPMjournal">Haemophilia</span>
|
||
2008 Nov;14(6):1159-63.
|
||
doi: 10.1111/j.1365-2516.2008.01832.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19141155" target="_blank">19141155</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7740487">Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haverkate F,
|
||
Samama M</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
1995 Jan;73(1):151-61.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7740487" target="_blank">7740487</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(thrombophilia%20due%20to%20thrombin%20defect)%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 (12)</a></div></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_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/35733235">COVID-19 coagulopathy - what should we treat?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chowdary P</span><br />
|
||
<span class="medgenPMjournal">Exp Physiol</span>
|
||
2022 Jul;107(7):749-758.
|
||
Epub 2022 Jun 22
|
||
doi: 10.1113/EP089404.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35733235" target="_blank">35733235</a><a href="/pmc/articles/PMC9328279" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30986390">AGA Clinical Practice Update: Coagulation in Cirrhosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Leary JG,
|
||
Greenberg CS,
|
||
Patton HM,
|
||
Caldwell SH</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2019 Jul;157(1):34-43.e1.
|
||
Epub 2019 Apr 12
|
||
doi: 10.1053/j.gastro.2019.03.070.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30986390" target="_blank">30986390</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25971647">Adverse effects of glucocorticoids: coagulopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coelho MC,
|
||
Santos CV,
|
||
Vieira Neto L,
|
||
Gadelha MR</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2015 Oct;173(4):M11-21.
|
||
Epub 2015 May 13
|
||
doi: 10.1530/EJE-15-0198.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25971647" target="_blank">25971647</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23233637">Thrombotic disease in the myeloproliferative neoplasms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Falanga A,
|
||
Marchetti M</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2012;2012:571-81.
|
||
doi: 10.1182/asheducation-2012.1.571.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23233637" target="_blank">23233637</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11900586">Laboratory diagnosis of dysfibrinogenemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cunningham MT,
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Brandt JT,
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Laposata M,
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<span class="medgenPMjournal">Arch Pathol Lab Med</span>
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2002 Apr;126(4):499-505.
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<span class="bold">PMID: </span><a href="/pubmed/11900586" target="_blank">11900586</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombophilia%20due%20to%20thrombin%20defect%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 (114)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/28804827">Assessment of Hereditary Thrombophilia: Performance of Antithrombin (AT) Testing.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/23546728" target="_blank">23546728</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/18714742">Hemostasis abnormalities in liver cirrhosis: myth or reality?</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/9438374">Factor V.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rosing J,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombophilia%20due%20to%20thrombin%20defect%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 (95)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35733235">COVID-19 coagulopathy - what should we treat?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chowdary P</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/30986390">AGA Clinical Practice Update: Coagulation in Cirrhosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">O'Leary JG,
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Greenberg CS,
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Patton HM,
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Caldwell SH</span><br />
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<span class="medgenPMjournal">Gastroenterology</span>
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2019 Jul;157(1):34-43.e1.
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<span class="bold">PMID: </span><a href="/pubmed/30986390" target="_blank">30986390</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25971647">Adverse effects of glucocorticoids: coagulopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Coelho MC,
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<div class="portlet_content ln"><span class="medgenPMauthor">Falanga A,
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<span class="bold">PMID: </span><a href="/pubmed/23233637" target="_blank">23233637</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/9579631">Hemostasis and malignancy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Francis JL,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombophilia%20due%20to%20thrombin%20defect%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 (63)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/24792730">Disseminated intravascular coagulation: testing and diagnosis.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24415858">Inflammatory bowel disease: epidemiology, pathology and risk factors for hypercoagulability.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23233637">Thrombotic disease in the myeloproliferative neoplasms.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Falanga A,
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<span class="bold">PMID: </span><a href="/pubmed/23233637" target="_blank">23233637</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11007190">Pathophysiology of disseminated intravascular coagulation in sepsis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">ten Cate H</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/8578447">New molecular insights into the genetics of thrombophilia. Resistance to activated protein C caused by Arg506 to Gln mutation in factor V as a pathogenic risk factor for venous thrombosis.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombophilia%20due%20to%20thrombin%20defect%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 (42)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37387486">Clot Waveform Analysis for Hemostatic Abnormalities.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wada H,
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Shiraki K,
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Matsumoto T,
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Shimpo H,
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Shimaoka M</span><br />
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|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30986390">AGA Clinical Practice Update: Coagulation in Cirrhosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Leary JG,
|
||
Greenberg CS,
|
||
Patton HM,
|
||
Caldwell SH</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2019 Jul;157(1):34-43.e1.
|
||
Epub 2019 Apr 12
|
||
doi: 10.1053/j.gastro.2019.03.070.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30986390" target="_blank">30986390</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24792730">Disseminated intravascular coagulation: testing and diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wada H,
|
||
Matsumoto T,
|
||
Yamashita Y,
|
||
Hatada T</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2014 Sep 25;436:130-4.
|
||
Epub 2014 Apr 30
|
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doi: 10.1016/j.cca.2014.04.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24792730" target="_blank">24792730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24415858">Inflammatory bowel disease: epidemiology, pathology and risk factors for hypercoagulability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Owczarek D,
|
||
Cibor D,
|
||
Głowacki MK,
|
||
Rodacki T,
|
||
Mach T</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2014 Jan 7;20(1):53-63.
|
||
doi: 10.3748/wjg.v20.i1.53.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24415858" target="_blank">24415858</a><a href="/pmc/articles/PMC3886032" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23233637">Thrombotic disease in the myeloproliferative neoplasms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Falanga A,
|
||
Marchetti M</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2012;2012:571-81.
|
||
doi: 10.1182/asheducation-2012.1.571.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23233637" target="_blank">23233637</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombophilia%20due%20to%20thrombin%20defect%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 (70)</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">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=C3160733%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3160733%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (30)</a></li>
|
||
<li><a href="/gtr/tests?term=C3160733%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C3160733%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (41)</a></li>
|
||
<li><a href="/gtr/tests?term=C3160733%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (39)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3160733%5bDISCUI%5d" target="_blank">See all (80)</a></total></li>
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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=(thrombophilia%20due%20to%20thrombin%20defect)%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></div>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=134570%20176930%20603924%20607093" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2147[geneid]" target="_blank">View F2 variations in ClinVar</a></li><li><a href="/clinvar/?term=2162[geneid]" target="_blank">View F13A1 variations in ClinVar</a></li><li><a href="/clinvar/?term=3026[geneid]" target="_blank">View HABP2 variations in ClinVar</a></li><li><a href="/clinvar/?term=4524[geneid]" target="_blank">View MTHFR variations in ClinVar</a></li><li><a href="/nuccore/193211391,212549704,212549707,262331545" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=188050" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/thrombophilia_due_to_thrombin_defect" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Thrombophilia%20due%20to%20thrombin%20defect" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/prothrombin-thrombophilia" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10815/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/20301327" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<a href="/pubmed?term=Thrombophilia%20due%20to%20thrombin%20defect%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=463623" ref="log$=recordlinks">PubMed (OMIM)</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb60f6b15b832ebc4f9504">Thrombophilia due to thrombin defect</a>
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<div class="ralinkpop offscreen_noflow">Thrombophilia due to thrombin defect<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb60f5a68b6b5afcbf1637">C3160733[conceptid] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb60f4a68b6b5afcbf1251">C3278211[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(79)</span></a>
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<div class="ralinkpop offscreen_noflow">C3278211[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cb60f3f4a390645e84e133">Thrombophilia due to protein S deficiency, autosomal dominant</a>
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