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<meta name="keywords" content="C2674321, disease or syndrome, proc, proc deficiency, autosomal dominant, protein c deficiency, protein c deficiency, acquired, protein c deficiency, autosomal dominant, thph3, thrombophilia 3 due to protein c deficiency, autosomal dominant, thrombophilia due to protein c deficiency, autosomal dominant, thrombophilia, hereditary, due to protein c deficiency, autosomal dominant, 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="Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic (Millar et al., 2000). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency (Bertina et al., 1984). Acquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. Clouse and Comp (1986) reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=436138
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ConceptID=C2674321
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Thrombophilia due to protein C deficiency, autosomal dominant<span class="h1sub">(THPH3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436138</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.">C2674321</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>PROC DEFICIENCY, AUTOSOMAL DOMINANT; Protein C Deficiency; PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant</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">Gene (location):<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="PROC - ID: 5624 - NCBI Gene" href="/gene/5624" class="medgenPMinfo">PROC</a> (2q14.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008316" target="_blank">MONDO:0008316</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/176860" target="_blank">176860</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_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic (Millar et al., 2000). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency (Bertina et al., 1984). Acquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. Clouse and Comp (1986) reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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||
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<div class="portlet mgSection" id="ID_117">
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<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 />Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe.<br /><br />Individuals with mild protein C deficiency are at risk of a type of blood clot known as a deep vein thrombosis (DVT). These clots occur in the deep veins of the arms or legs, away from the surface of the skin. A DVT can travel through the bloodstream and lodge in the lungs, causing a life-threatening blockage of blood flow known as a pulmonary embolism (PE). While most people with mild protein C deficiency never develop abnormal blood clots, certain factors can add to the risk of their development. These factors include increased age, surgery, inactivity, or pregnancy. Having another inherited disorder of blood clotting in addition to protein C deficiency can also influence the risk of abnormal blood clotting.<br /><br />In severe cases of protein C deficiency, infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. Purpura fulminans is characterized by the formation of blood clots in the small blood vessels throughout the body. These blood clots block normal blood flow and can lead to localized death of body tissue (necrosis). Widespread blood clotting uses up all available blood clotting proteins. As a result, abnormal bleeding occurs in various parts of the body, which can cause large, purple patches on the skin. Individuals who survive the newborn period may experience recurrent episodes of purpura fulminans. <a target="_blank" href="https://medlineplus.gov/genetics/condition/protein-c-deficiency">https://medlineplus.gov/genetics/condition/protein-c-deficiency</a></div></div>
|
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</div>
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||
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<div class="portlet mgSection" id="ID_102">
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||
<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_105425"><div><strong>Abnormality of the nervous system</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105425</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.">C0497552</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105425">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20nervous%20system%22%5BClinical%20Features%5D%20OR%20105425%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_98306"><div><strong>Thrombophilia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98306</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.">C0398623</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of coagulation associated with an increased risk of thrombosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98306">Feature record</a> | <a href="/medgen?term=%22Thrombophilia%22%5BClinical%20Features%5D%20OR%2098306%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96016"><div><strong>Reduced protein C activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96016</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.">C0398625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96016">Feature record</a> | <a href="/medgen?term=%22Reduced%20protein%20C%20activity%22%5BClinical%20Features%5D%20OR%2096016%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_266934"><div><strong>Superficial thrombophlebitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266934</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.">C1510431</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/266934">Feature record</a> | <a href="/medgen?term=%22Superficial%20thrombophlebitis%22%5BClinical%20Features%5D%20OR%20266934%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_356820"><div><strong>Warfarin-induced skin necrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356820</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.">C1867638</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356820">Feature record</a> | <a href="/medgen?term=%22Warfarin-induced%20skin%20necrosis%22%5BClinical%20Features%5D%20OR%20356820%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1370071"><div><strong>Abnormality of the eye</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1370071</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.">C4316870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any abnormality of the eye, including location, spacing, and intraocular abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1370071">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20eye%22%5BClinical%20Features%5D%20OR%201370071%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_96016" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced protein C activity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_266934" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Superficial thrombophlebitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98306" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombophilia</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><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1370071" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the eye</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356820" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Warfarin-induced skin necrosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105425" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the nervous system</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="TLclosed"><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"><a href="/medgen/463623" ref="tree=GTR&ncbi_uid=463623&link_uid=463623" title="View MedGen record for 'Thrombophilia due to thrombin defect'">Thrombophilia due to thrombin defect</a></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="matched_ds"><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">Thrombophilia due to protein C deficiency, autosomal dominant</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="TLline"><a href="/medgen/463623" ref="tree=MeSH" title="MedGen record for Thrombophilia due to thrombin defect">Thrombophilia due to thrombin defect</a></span><ul><li><span class="matched_ds">Thrombophilia due to protein C deficiency, autosomal dominant</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/22168450">Hereditary protein C deficiency and thrombosis risk: genotype and phenotype relation in a large Italian family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cafolla A,
|
||
D'Andrea G,
|
||
Baldacci E,
|
||
Margaglione M,
|
||
Mazzucconi MG,
|
||
Foà R</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
2012 Apr;88(4):336-9.
|
||
Epub 2012 Jan 10
|
||
doi: 10.1111/j.1600-0609.2011.01742.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22168450" target="_blank">22168450</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(thrombophilia%20due%20to%20protein%20c%20deficiency%2C%20autosomal%20dominant)%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 (1)</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/39501745">Clinical implications of genetic testing for congenital protein C deficiency in pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maehana T,
|
||
Nishikubo T,
|
||
Maekawa R,
|
||
Hotta T,
|
||
Nishikawa K,
|
||
Waki K,
|
||
Makino Y,
|
||
Akasaka J,
|
||
Kawaguchi R,
|
||
Kimura F</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol Res</span>
|
||
2024 Dec;50(12):2367-2371.
|
||
Epub 2024 Nov 5
|
||
doi: 10.1111/jog.16138.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39501745" target="_blank">39501745</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27745619">Hypercoagulable States: What the Oral Surgeon Needs to Know.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bona R</span><br />
|
||
<span class="medgenPMjournal">Oral Maxillofac Surg Clin North Am</span>
|
||
2016 Nov;28(4):491-495.
|
||
doi: 10.1016/j.coms.2016.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27745619" target="_blank">27745619</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23986205">Protein C and protein S deficiency - practical diagnostic issues.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wypasek E,
|
||
Undas A</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Exp Med</span>
|
||
2013 Jul-Aug;22(4):459-67.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23986205" target="_blank">23986205</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22168450">Hereditary protein C deficiency and thrombosis risk: genotype and phenotype relation in a large Italian family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cafolla A,
|
||
D'Andrea G,
|
||
Baldacci E,
|
||
Margaglione M,
|
||
Mazzucconi MG,
|
||
Foà R</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
2012 Apr;88(4):336-9.
|
||
Epub 2012 Jan 10
|
||
doi: 10.1111/j.1600-0609.2011.01742.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22168450" target="_blank">22168450</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16418978">Thrombophilias and recurrent pregnancy loss.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kutteh WH,
|
||
Triplett DA</span><br />
|
||
<span class="medgenPMjournal">Semin Reprod Med</span>
|
||
2006 Feb;24(1):54-66.
|
||
doi: 10.1055/s-2006-931801.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16418978" target="_blank">16418978</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombophilia%20due%20to%20protein%20C%20deficiency%2C%20autosomal%20dominant%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 (12)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39501745">Clinical implications of genetic testing for congenital protein C deficiency in pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maehana T,
|
||
Nishikubo T,
|
||
Maekawa R,
|
||
Hotta T,
|
||
Nishikawa K,
|
||
Waki K,
|
||
Makino Y,
|
||
Akasaka J,
|
||
Kawaguchi R,
|
||
Kimura F</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol Res</span>
|
||
2024 Dec;50(12):2367-2371.
|
||
Epub 2024 Nov 5
|
||
doi: 10.1111/jog.16138.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39501745" target="_blank">39501745</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34958066">Sagittal sinus thrombosis in a patient with familial Protein C deficiency: Highlighting the impact of thrombophilia testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wan Ab Rahman WS,
|
||
Abdullah WZ,
|
||
Hassan MN,
|
||
Ahmed S,
|
||
Zulkafli Z,
|
||
Wan Ahmed WA,
|
||
Iberahim S,
|
||
Mohd Noor NH</span><br />
|
||
<span class="medgenPMjournal">Malays J Pathol</span>
|
||
2021 Dec;43(3):449-452.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34958066" target="_blank">34958066</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30883460">A Study of Congenital Protein C Deficiency With Infancy Onset of CADASIL in a Chinese Baby.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan X,
|
||
Li C,
|
||
Chen X,
|
||
Liu L,
|
||
Liu G,
|
||
Wen F</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
|
||
2019 May;41(4):e210-e215.
|
||
doi: 10.1097/MPH.0000000000001436.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30883460" target="_blank">30883460</a><a href="/pmc/articles/PMC6493701" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23986205">Protein C and protein S deficiency - practical diagnostic issues.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wypasek E,
|
||
Undas A</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Exp Med</span>
|
||
2013 Jul-Aug;22(4):459-67.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23986205" target="_blank">23986205</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22168450">Hereditary protein C deficiency and thrombosis risk: genotype and phenotype relation in a large Italian family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cafolla A,
|
||
D'Andrea G,
|
||
Baldacci E,
|
||
Margaglione M,
|
||
Mazzucconi MG,
|
||
Foà R</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
2012 Apr;88(4):336-9.
|
||
Epub 2012 Jan 10
|
||
doi: 10.1111/j.1600-0609.2011.01742.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22168450" target="_blank">22168450</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombophilia%20due%20to%20protein%20C%20deficiency%2C%20autosomal%20dominant%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 (10)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29270858">Homozygous protein C deficiency presenting as neonatal purpura fulminans: management with fresh frozen plasma, low molecular weight heparin and protein C concentrate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kizilocak H,
|
||
Ozdemir N,
|
||
Dikme G,
|
||
Koc B,
|
||
Celkan T</span><br />
|
||
<span class="medgenPMjournal">J Thromb Thrombolysis</span>
|
||
2018 Feb;45(2):315-318.
|
||
doi: 10.1007/s11239-017-1606-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29270858" target="_blank">29270858</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23986205">Protein C and protein S deficiency - practical diagnostic issues.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wypasek E,
|
||
Undas A</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Exp Med</span>
|
||
2013 Jul-Aug;22(4):459-67.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23986205" target="_blank">23986205</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7546154">Heterozygous protein C deficiency and dysfibrinogenemia acquired by liver transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cransac M,
|
||
Carles J,
|
||
Bernard PH,
|
||
Malavialle P,
|
||
Freyburger G,
|
||
Winnock S,
|
||
Saric J</span><br />
|
||
<span class="medgenPMjournal">Transpl Int</span>
|
||
1995;8(4):307-11.
|
||
doi: 10.1007/BF00346885.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7546154" target="_blank">7546154</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1286225">Inherited heterozygous protein C deficiency and dysfunctional protein S with recurrent venous thrombotic diseases: a study of three generations of a Japanese family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hashizume T,
|
||
Tsushima N,
|
||
Matsuo H,
|
||
Ito A,
|
||
Oozono K,
|
||
Sakata T</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
1992 Oct;31(10):1197-200.
|
||
doi: 10.2169/internalmedicine.31.1197.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1286225" target="_blank">1286225</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2961308">Coumarin necrosis, neonatal purpura fulminans, and protein C deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gladson CL,
|
||
Groncy P,
|
||
Griffin JH</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
1987 Dec;123(12):1701a-1706a.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2961308" target="_blank">2961308</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombophilia%20due%20to%20protein%20C%20deficiency%2C%20autosomal%20dominant%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33761690">Pathogenic variants of PROC gene caused type II activity deficiency in a Chinese family: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu H,
|
||
Liu H,
|
||
Liu J</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2021 Mar 26;100(12):e25160.
|
||
doi: 10.1097/MD.0000000000025160.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33761690" target="_blank">33761690</a><a href="/pmc/articles/PMC9282035" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23986205">Protein C and protein S deficiency - practical diagnostic issues.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wypasek E,
|
||
Undas A</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Exp Med</span>
|
||
2013 Jul-Aug;22(4):459-67.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23986205" target="_blank">23986205</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1826407">Incidence and clinical characteristics of hereditary disorders associated with venous thrombosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tabernero MD,
|
||
Tomas JF,
|
||
Alberca I,
|
||
Orfao A,
|
||
Lopez Borrasca A,
|
||
Vicente V</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
1991 Apr;36(4):249-54.
|
||
doi: 10.1002/ajh.2830360405.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1826407" target="_blank">1826407</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombophilia%20due%20to%20protein%20C%20deficiency%2C%20autosomal%20dominant%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23986205">Protein C and protein S deficiency - practical diagnostic issues.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wypasek E,
|
||
Undas A</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Exp Med</span>
|
||
2013 Jul-Aug;22(4):459-67.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23986205" target="_blank">23986205</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8302317">Resistance to activated protein C as a basis for venous thrombosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Svensson PJ,
|
||
Dahlbäck B</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1994 Feb 24;330(8):517-22.
|
||
doi: 10.1056/NEJM199402243300801.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8302317" target="_blank">8302317</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1509404">Beta 2-glycoprotein I deficiency and the risk of thrombosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bancsi LF,
|
||
van der Linden IK,
|
||
Bertina RM</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
1992 Jun 1;67(6):649-53.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1509404" target="_blank">1509404</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1826407">Incidence and clinical characteristics of hereditary disorders associated with venous thrombosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tabernero MD,
|
||
Tomas JF,
|
||
Alberca I,
|
||
Orfao A,
|
||
Lopez Borrasca A,
|
||
Vicente V</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
1991 Apr;36(4):249-54.
|
||
doi: 10.1002/ajh.2830360405.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1826407" target="_blank">1826407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2195715">Ischemic stroke due to protein C deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kohler J,
|
||
Kasper J,
|
||
Witt I,
|
||
von Reutern GM</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
1990 Jul;21(7):1077-80.
|
||
doi: 10.1161/01.str.21.7.1077.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2195715" target="_blank">2195715</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombophilia%20due%20to%20protein%20C%20deficiency%2C%20autosomal%20dominant%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 (5)</a></div></div>
|
||
</div>
|
||
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|
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2674321%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (25)</a></li>
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<li><a href="/gtr/tests?term=C2674321%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (28)</a></li>
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<li><a href="/gtr/tests?term=C2674321%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2674321%5bDISCUI%5d" target="_blank">See all (34)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Thrombophilia%2C+hereditary%2C+due+to+protein+c+deficiency%2C+autosomal+dominant/9396" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/thrombophilia_due_to_protein_c_deficiency_autosomal_dominant" 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%20protein%20C%20deficiency,%20autosomal%20dominant" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/protein-c-deficiency" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18574/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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