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<!--
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UID=604
|
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ConceptID=C0005779
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the coagulation cascade</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>604</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.">C0005779</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>Bleeding tendency; Blood coagulation disease; coagulation defects</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Blood coagulation disorder (64779008); Coagulation disorder (64779008); Blood clotting disorder (64779008); Coagulopathy (64779008); Disorder of hemostatic system (362970003); Clotting disorder (64779008); Disorder of hemostasis (64779008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003256">HP:0003256</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0001531" target="_blank">MONDO:0001531</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">An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0005779[DISCUI]&test_type=Clinical" ref="ncbi_uid=604">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Abnormality of the coagulation cascade</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="TLline"><a href="/medgen/375979" ref="tree=MeSH" title="MedGen record for Abnormality of coagulation">Abnormality of coagulation</a></span><ul><li><span class="matched_ds">Abnormality of the coagulation cascade</span><ul><li><span class="TLline"><a href="/medgen/264316" ref="tree=MeSH" title="MedGen record for Abnormal bleeding">Abnormal bleeding</a></span><ul><li><span class="TLline"><a href="/medgen/894774" ref="tree=MeSH" title="MedGen record for Abnormal onset of bleeding">Abnormal onset of bleeding</a></span><ul><li><span class="TLline"><a href="/medgen/895284" ref="tree=MeSH" title="MedGen record for Delayed onset bleeding">Delayed onset bleeding</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868740" ref="tree=MeSH" title="MedGen record for Abnormal umbilical stump bleeding">Abnormal umbilical stump bleeding</a></span></li><li><span class="TLline"><a href="/medgen/868739" ref="tree=MeSH" title="MedGen record for Bleeding requiring red cell transfusion">Bleeding requiring red cell transfusion</a></span></li><li><span class="TLline"><a href="/medgen/868738" ref="tree=MeSH" title="MedGen record for Bleeding with minor or no trauma">Bleeding with minor or no trauma</a></span></li><li><span class="TLline"><a href="/medgen/2951" ref="tree=MeSH" title="MedGen record for Cephalohematoma">Cephalohematoma</a></span></li><li><span class="TLline"><a href="/medgen/4996" ref="tree=MeSH" title="MedGen record for Epistaxis">Epistaxis</a></span><ul><li><span class="TLline"><a href="/medgen/816045" ref="tree=MeSH" title="MedGen record for Spontaneous, recurrent epistaxis">Spontaneous, recurrent epistaxis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868217" ref="tree=MeSH" title="MedGen record for Excessive bleeding after a venipuncture">Excessive bleeding after a venipuncture</a></span></li><li><span class="TLline"><a href="/medgen/868218" ref="tree=MeSH" title="MedGen record for Excessive bleeding from superficial cuts">Excessive bleeding from superficial cuts</a></span></li><li><span class="TLline"><a href="/medgen/42218" ref="tree=MeSH" title="MedGen record for Gingival bleeding">Gingival bleeding</a></span></li><li><span class="TLline"><a href="/medgen/44358" ref="tree=MeSH" title="MedGen record for Menorrhagia">Menorrhagia</a></span></li><li><span class="TLline"><a href="/medgen/375403" ref="tree=MeSH" title="MedGen record for Persistent bleeding after trauma">Persistent bleeding after trauma</a></span></li><li><span class="TLline"><a href="/medgen/868737" ref="tree=MeSH" title="MedGen record for Prolonged bleeding following procedure">Prolonged bleeding following procedure</a></span><ul><li><span class="TLline"><a href="/medgen/18592" ref="tree=MeSH" title="MedGen record for Post-partum hemorrhage">Post-partum hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/369536" ref="tree=MeSH" title="MedGen record for Prolonged bleeding after dental extraction">Prolonged bleeding after dental extraction</a></span></li><li><span class="TLline"><a href="/medgen/867284" ref="tree=MeSH" title="MedGen record for Prolonged bleeding after surgery">Prolonged bleeding after surgery</a></span></li><li><span class="TLline"><a href="/medgen/868219" ref="tree=MeSH" title="MedGen record for Prolonged bleeding following circumcision">Prolonged bleeding following circumcision</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/56231" ref="tree=MeSH" title="MedGen record for Prolonged bleeding time">Prolonged bleeding time</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868606" ref="tree=MeSH" title="MedGen record for Abnormality of prothrombin">Abnormality of prothrombin</a></span><ul><li><span class="TLline"><a href="/medgen/663294" ref="tree=MeSH" title="MedGen record for Abnormal prothrombin time">Abnormal prothrombin time</a></span><ul><li><span class="TLline"><a href="/medgen/154375" ref="tree=MeSH" title="MedGen record for Decreased prothrombin time">Decreased prothrombin time</a></span></li><li><span class="TLline"><a href="/medgen/208879" ref="tree=MeSH" title="MedGen record for Prolonged prothrombin time">Prolonged prothrombin time</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/901989" ref="tree=MeSH" title="MedGen record for Reduced prothrombin antigen">Reduced prothrombin antigen</a></span></li><li><span class="TLline"><a href="/medgen/867367" ref="tree=MeSH" title="MedGen record for Reduced prothrombin consumption">Reduced prothrombin consumption</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869187" ref="tree=MeSH" title="MedGen record for Abnormality of the common coagulation pathway">Abnormality of the common coagulation pathway</a></span><ul><li><span class="TLline"><a href="/medgen/1633263" ref="tree=MeSH" title="MedGen record for Abnormal coagulation factor V activity">Abnormal coagulation factor V activity</a></span><ul><li><span class="TLline"><a href="/medgen/866756" ref="tree=MeSH" title="MedGen record for Elevated coagulation factor V activity">Elevated coagulation factor V activity</a></span></li><li><span class="TLline"><a href="/medgen/1369551" ref="tree=MeSH" title="MedGen record for Factor V deficiency">Factor V deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868734" ref="tree=MeSH" title="MedGen record for Abnormality of circulating fibrinogen">Abnormality of circulating fibrinogen</a></span><ul><li><span class="TLline"><a href="/medgen/7919" ref="tree=MeSH" title="MedGen record for Afibrinogenemia">Afibrinogenemia</a></span></li><li><span class="TLline"><a href="/medgen/78798" ref="tree=MeSH" title="MedGen record for Cryofibrinogenemia">Cryofibrinogenemia</a></span></li><li><span class="TLline"><a href="/medgen/226778" ref="tree=MeSH" title="MedGen record for Dysfibrinogenemia">Dysfibrinogenemia</a></span></li><li><span class="TLline"><a href="/medgen/488952" ref="tree=MeSH" title="MedGen record for Hyperfibrinogenemia">Hyperfibrinogenemia</a></span></li><li><span class="TLline"><a href="/medgen/107511" ref="tree=MeSH" title="MedGen record for Hypofibrinogenemia">Hypofibrinogenemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/909798" ref="tree=MeSH" title="MedGen record for Decreased level of heparin co-factor II">Decreased level of heparin co-factor II</a></span></li><li><span class="TLline"><a href="/medgen/907379" ref="tree=MeSH" title="MedGen record for Decreased level of histidine-rich glycoprotein">Decreased level of histidine-rich glycoprotein</a></span></li><li><span class="TLline"><a href="/medgen/904486" ref="tree=MeSH" title="MedGen record for Decreased level of thrombomodulin">Decreased level of thrombomodulin</a></span></li><li><span class="TLline"><a href="/medgen/903959" ref="tree=MeSH" title="MedGen record for Decreased level of tissue plasminogen activator">Decreased level of tissue plasminogen activator</a></span></li><li><span class="TLline"><a href="/medgen/909357" ref="tree=MeSH" title="MedGen record for Increased plasma vitamin K epoxide after vitamin K supplementation">Increased plasma vitamin K epoxide after vitamin K supplementation</a></span></li><li><span class="TLline"><a href="/medgen/896940" ref="tree=MeSH" title="MedGen record for Prolonged Russell viper venom time">Prolonged Russell viper venom time</a></span></li><li><span class="TLline"><a href="/medgen/904513" ref="tree=MeSH" title="MedGen record for Reduced alpha-2-antiplasmin activity">Reduced alpha-2-antiplasmin activity</a></span></li><li><span class="TLline"><a href="/medgen/906331" ref="tree=MeSH" title="MedGen record for Reduced antithrombin antigen">Reduced antithrombin antigen</a></span></li><li><span class="TLline"><a href="/medgen/892449" ref="tree=MeSH" title="MedGen record for Reduced factor X activity">Reduced factor X activity</a></span><ul><li><span class="TLline"><a href="/medgen/870255" ref="tree=MeSH" title="MedGen record for Factor X activation deficiency">Factor X activation deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870254" ref="tree=MeSH" title="MedGen record for Reduced factor XIII activity">Reduced factor XIII activity</a></span><ul><li><span class="TLline"><a href="/medgen/442497" ref="tree=MeSH" title="MedGen record for Factor XIII, A subunit, deficiency of">Factor XIII, A subunit, deficiency of</a></span></li><li><span class="TLline"><a href="/medgen/442490" ref="tree=MeSH" title="MedGen record for Factor XIII, b subunit, deficiency of">Factor XIII, b subunit, deficiency of</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/869189" ref="tree=MeSH" title="MedGen record for Abnormality of the extrinsic pathway">Abnormality of the extrinsic pathway</a></span><ul><li><span class="TLline"><a href="/medgen/892851" ref="tree=MeSH" title="MedGen record for Reduced factor VII activity">Reduced factor VII activity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869188" ref="tree=MeSH" title="MedGen record for Abnormality of the intrinsic pathway">Abnormality of the intrinsic pathway</a></span><ul><li><span class="TLline"><a href="/medgen/1765773" ref="tree=MeSH" title="MedGen record for Abnormal factor IX activity">Abnormal factor IX activity</a></span><ul><li><span class="TLline"><a href="/medgen/1768930" ref="tree=MeSH" title="MedGen record for Increased factor IX activity">Increased factor IX activity</a></span></li><li><span class="TLline"><a href="/medgen/868754" ref="tree=MeSH" title="MedGen record for Reduced factor IX activity">Reduced factor IX activity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1387304" ref="tree=MeSH" title="MedGen record for Abnormal factor VIII activity">Abnormal factor VIII activity</a></span><ul><li><span class="TLline"><a href="/medgen/1393349" ref="tree=MeSH" title="MedGen record for Increased factor VIII activity">Increased factor VIII activity</a></span></li><li><span class="TLline"><a href="/medgen/892907" ref="tree=MeSH" title="MedGen record for Reduced factor VIII activity">Reduced factor VIII activity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8772" ref="tree=MeSH" title="MedGen record for Factor XII deficiency disease">Factor XII deficiency disease</a></span><ul><li><span class="TLline"><a href="/medgen/1375914" ref="tree=MeSH" title="MedGen record for Acquired Factor XII Deficiency">Acquired Factor XII Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/543982" ref="tree=MeSH" title="MedGen record for Hereditary factor XII deficiency disease">Hereditary factor XII deficiency disease</a></span></li></ul></li><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/75780" ref="tree=MeSH" title="MedGen record for High molecular weight kininogen deficiency">High molecular weight kininogen deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1368629" ref="tree=MeSH" title="MedGen record for Reduced factor XI activity">Reduced factor XI activity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/894472" ref="tree=MeSH" title="MedGen record for Abnormality of the protein C anticoagulant pathway">Abnormality of the protein C anticoagulant pathway</a></span><ul><li><span class="TLline"><a href="/medgen/96016" ref="tree=MeSH" title="MedGen record for Reduced protein C activity">Reduced protein C activity</a></span></li><li><span class="TLline"><a href="/medgen/892328" ref="tree=MeSH" title="MedGen record for Reduced protein S activity">Reduced protein S activity</a></span></li><li><span class="TLline"><a href="/medgen/109068" ref="tree=MeSH" title="MedGen record for Resistance to activated protein C">Resistance to activated protein C</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868623" ref="tree=MeSH" title="MedGen record for Abnormality of von Willebrand factor">Abnormality of von Willebrand factor</a></span><ul><li><span class="TLline"><a href="/medgen/868225" ref="tree=MeSH" title="MedGen record for Abnormal von Willebrand factor multimer distribution">Abnormal von Willebrand factor multimer distribution</a></span><ul><li><span class="TLline"><a href="/medgen/868223" ref="tree=MeSH" title="MedGen record for Abnormal presence of ultra-large von Willebrand factor multimers">Abnormal presence of ultra-large von Willebrand factor multimers</a></span></li><li><span class="TLline"><a href="/medgen/1841523" ref="tree=MeSH" title="MedGen record for Absence of intermediate von Willebrand factor multimers">Absence of intermediate von Willebrand factor multimers</a></span></li><li><span class="TLline"><a href="/medgen/1841536" ref="tree=MeSH" title="MedGen record for Absence of large von Willebrand factor multimers">Absence of large von Willebrand factor multimers</a></span></li><li><span class="TLline"><a href="/medgen/896313" ref="tree=MeSH" title="MedGen record for Decrease in high molecular weight von Willebrand factor Multimers">Decrease in high molecular weight von Willebrand factor Multimers</a></span></li><li><span class="TLline"><a href="/medgen/868222" ref="tree=MeSH" title="MedGen record for Total absence von Willebrand factor multimers">Total absence von Willebrand factor multimers</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868220" ref="tree=MeSH" title="MedGen record for Enhanced ristocetin cofactor assay activity">Enhanced ristocetin cofactor assay activity</a></span></li><li><span class="TLline"><a href="/medgen/906846" ref="tree=MeSH" title="MedGen record for Impaired binding of factor VIII to VWF">Impaired binding of factor VIII to VWF</a></span></li><li><span class="TLline"><a href="/medgen/868227" ref="tree=MeSH" title="MedGen record for Impaired ristocetin cofactor assay activity">Impaired ristocetin cofactor assay activity</a></span></li><li><span class="TLline"><a href="/medgen/868749" ref="tree=MeSH" title="MedGen record for Impaired ristocetin-induced platelet aggregation">Impaired ristocetin-induced platelet aggregation</a></span></li><li><span class="TLline"><a href="/medgen/1841561" ref="tree=MeSH" title="MedGen record for Impaired von Willebrand factor collagen binding activity">Impaired von Willebrand factor collagen binding activity</a></span></li><li><span class="TLline"><a href="/medgen/894044" ref="tree=MeSH" title="MedGen record for Increased ratio of VWF propeptide to VWF antigen">Increased ratio of VWF propeptide to VWF antigen</a></span></li><li><span class="TLline"><a href="/medgen/893065" ref="tree=MeSH" title="MedGen record for Reduced quantity of Von Willebrand factor">Reduced quantity of Von Willebrand factor</a></span></li><li><span class="TLline"><a href="/medgen/870263" ref="tree=MeSH" title="MedGen record for Reduced von Willebrand factor activity">Reduced von Willebrand factor activity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/543936" ref="tree=MeSH" title="MedGen record for Blood coagulation disorder due to liver disease">Blood coagulation disorder due to liver disease</a></span></li><li><span class="TLline"><a href="/medgen/543969" ref="tree=MeSH" title="MedGen record for Coagulation factor deficiency syndrome">Coagulation factor deficiency syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/98" ref="tree=MeSH" title="MedGen record for Acquired coagulation factor deficiency">Acquired coagulation factor deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/1388183" ref="tree=MeSH" title="MedGen record for Acquired Factor I Deficiency">Acquired Factor I Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1383040" ref="tree=MeSH" title="MedGen record for Acquired Factor III Deficiency">Acquired Factor III Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1380582" ref="tree=MeSH" title="MedGen record for Acquired factor V deficiency">Acquired factor V deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1388639" ref="tree=MeSH" title="MedGen record for Acquired factor VII deficiency">Acquired factor VII deficiency</a></span></li><li><span class="TLline"><a href="/medgen/124426" ref="tree=MeSH" title="MedGen record for Acquired factor VIII deficiency disease">Acquired factor VIII deficiency disease</a></span></li><li><span class="TLline"><a href="/medgen/543977" ref="tree=MeSH" title="MedGen record for Acquired factor X deficiency">Acquired factor X deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1376431" ref="tree=MeSH" title="MedGen record for Acquired factor XI deficiency">Acquired factor XI deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1393253" ref="tree=MeSH" title="MedGen record for Acquired factor XIII deficiency">Acquired factor XIII deficiency</a></span></li><li><span class="TLline"><a href="/medgen/98305" ref="tree=MeSH" title="MedGen record for Acquired hemophilia B">Acquired hemophilia B</a></span></li><li><span class="TLline"><a href="/medgen/140275" ref="tree=MeSH" title="MedGen record for Acquired hypoprothrombinemia">Acquired hypoprothrombinemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8769" ref="tree=MeSH" title="MedGen record for Factor VII deficiency">Factor VII deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/473015" ref="tree=MeSH" title="MedGen record for Congenital factor VII deficiency">Congenital factor VII deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4635" ref="tree=MeSH" title="MedGen record for Factor X deficiency">Factor X deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/543976" ref="tree=MeSH" title="MedGen record for Hereditary factor X deficiency disease">Hereditary factor X deficiency disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1385982" ref="tree=MeSH" title="MedGen record for Factor XIII deficiency">Factor XIII deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/4639" ref="tree=MeSH" title="MedGen record for Hereditary factor XIII deficiency disease">Hereditary factor XIII deficiency disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1372663" ref="tree=MeSH" title="MedGen record for Fibrinogen deficiency">Fibrinogen deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/9230" ref="tree=MeSH" title="MedGen record for Hereditary factor I deficiency disease">Hereditary factor I deficiency disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/146334" ref="tree=MeSH" title="MedGen record for Hemophilia">Hemophilia</a></span><ul><li><span class="TLline"><a href="/medgen/1386956" ref="tree=MeSH" title="MedGen record for Factor XI deficiency">Factor XI deficiency</a></span></li><li><span class="TLline"><a href="/medgen/945" ref="tree=MeSH" title="MedGen record for Hereditary factor IX deficiency disease">Hereditary factor IX deficiency disease</a></span></li><li><span class="TLline"><a href="/medgen/5501" ref="tree=MeSH" title="MedGen record for Hereditary factor VIII deficiency disease">Hereditary factor VIII deficiency disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/473014" ref="tree=MeSH" title="MedGen record for Hereditary coagulation factor deficiency">Hereditary coagulation factor deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/4633" ref="tree=MeSH" title="MedGen record for Congenital factor V deficiency">Congenital factor V deficiency</a></span></li><li><span class="TLline"><a href="/medgen/124425" ref="tree=MeSH" title="MedGen record for Congenital prothrombin deficiency">Congenital prothrombin deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1393364" ref="tree=MeSH" title="MedGen record for Hereditary Factor III Deficiency">Hereditary Factor III Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/8770" ref="tree=MeSH" title="MedGen record for Hereditary factor XI deficiency disease">Hereditary factor XI deficiency disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1651913" ref="tree=MeSH" title="MedGen record for Prothrombin deficiency">Prothrombin deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1384774" ref="tree=MeSH" title="MedGen record for Tissue Factor Deficiency">Tissue Factor Deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/108723" ref="tree=MeSH" title="MedGen record for Coagulation protein disease">Coagulation protein disease</a></span><ul><li><span class="TLline"><a href="/medgen/22686" ref="tree=MeSH" title="MedGen record for von Willebrand disorder">von Willebrand disorder</a></span><ul><li><span class="TLline"><a href="/medgen/543999" ref="tree=MeSH" title="MedGen record for Acquired von willebrand syndrome">Acquired von willebrand syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1814986" ref="tree=MeSH" title="MedGen record for Hereditary von Willebrand disease">Hereditary von Willebrand disease</a></span></li><li><span class="TLline"><a href="/medgen/226914" ref="tree=MeSH" title="MedGen record for Pseudo von Willebrand disease">Pseudo von Willebrand disease</a></span></li><li><span class="TLline"><a href="/medgen/220393" ref="tree=MeSH" title="MedGen record for von Willebrand disease type 1">von Willebrand disease type 1</a></span></li><li><span class="TLline"><a href="/medgen/224736" ref="tree=MeSH" title="MedGen record for von Willebrand disease type 2">von Willebrand disease type 2</a></span></li><li><span class="TLline"><a href="/medgen/266075" ref="tree=MeSH" title="MedGen record for von Willebrand disease type 3">von Willebrand disease type 3</a></span></li><li><span class="TLline"><a href="/medgen/220920" ref="tree=MeSH" title="MedGen record for Von Willebrand disease type 2A">Von Willebrand disease type 2A</a></span></li><li><span class="TLline"><a href="/medgen/224831" ref="tree=MeSH" title="MedGen record for Von Willebrand disease type 2B">Von Willebrand disease type 2B</a></span></li><li><span class="TLline"><a href="/medgen/266186" ref="tree=MeSH" title="MedGen record for von Willebrand disease type 2M">von Willebrand disease type 2M</a></span></li><li><span class="TLline"><a href="/medgen/266187" ref="tree=MeSH" title="MedGen record for von Willebrand disease type 2N">von Willebrand disease type 2N</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/769746" ref="tree=MeSH" title="MedGen record for Congenital Bleeding Disorder">Congenital Bleeding Disorder</a></span></li><li><span class="TLline"><a href="/medgen/412870" ref="tree=MeSH" title="MedGen record for Congenital plasminogen activator inhibitor type 1 deficiency">Congenital plasminogen activator inhibitor type 1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1747147" ref="tree=MeSH" title="MedGen record for COVID-19-Associated Coagulation Disorder">COVID-19-Associated Coagulation Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/1742891" ref="tree=MeSH" title="MedGen record for COVID-19-Associated Thromboembolism">COVID-19-Associated Thromboembolism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41620" ref="tree=MeSH" title="MedGen record for Disseminated intravascular coagulation">Disseminated intravascular coagulation</a></span><ul><li><span class="TLline"><a href="/medgen/868744" ref="tree=MeSH" title="MedGen record for Acute disseminated intravascular coagulation">Acute disseminated intravascular coagulation</a></span></li><li><span class="TLline"><a href="/medgen/354681" ref="tree=MeSH" title="MedGen record for Chronic disseminated intravascular coagulation">Chronic disseminated intravascular coagulation</a></span></li><li><span class="TLline"><a href="/medgen/510687" ref="tree=MeSH" title="MedGen record for Disseminated intravascular coagulation in newborn">Disseminated intravascular coagulation in newborn</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8524" ref="tree=MeSH" title="MedGen record for Ecchymosis">Ecchymosis</a></span><ul><li><span class="TLline"><a href="/medgen/149268" ref="tree=MeSH" title="MedGen record for Battle sign">Battle sign</a></span></li><li><span class="TLline"><a href="/medgen/209002" ref="tree=MeSH" title="MedGen record for Conjunctival Ecchymosis">Conjunctival Ecchymosis</a></span></li><li><span class="TLline"><a href="/medgen/96609" ref="tree=MeSH" title="MedGen record for Ecchymosis of gingivae">Ecchymosis of gingivae</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11797" ref="tree=MeSH" title="MedGen record for Essential thrombocythemia">Essential thrombocythemia</a></span><ul><li><span class="TLline"><a href="/medgen/479301" ref="tree=MeSH" title="MedGen record for Thrombocythemia 1">Thrombocythemia 1</a></span></li><li><span class="TLline"><a href="/medgen/477629" ref="tree=MeSH" title="MedGen record for Thrombocythemia 2">Thrombocythemia 2</a></span></li><li><span class="TLline"><a href="/medgen/482755" ref="tree=MeSH" title="MedGen record for Thrombocythemia 3">Thrombocythemia 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1774231" ref="tree=MeSH" title="MedGen record for Fibrinolysis Shutdown">Fibrinolysis Shutdown</a></span></li><li><span class="TLline"><a href="/medgen/42403" ref="tree=MeSH" title="MedGen record for Hemolytic-uremic syndrome">Hemolytic-uremic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/444141" ref="tree=MeSH" title="MedGen record for Atypical hemolytic-uremic syndrome">Atypical hemolytic-uremic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842625" ref="tree=MeSH" title="MedGen record for Atypical hemolytic uremic syndrome with complement gene abnormality">Atypical hemolytic uremic syndrome with complement gene abnormality</a></span></li><li><span class="TLline"><a href="/medgen/1788163" ref="tree=MeSH" title="MedGen record for Atypical Hemolytic Uremic Syndrome-4">Atypical Hemolytic Uremic Syndrome-4</a></span></li><li><span class="TLline"><a href="/medgen/1825998" ref="tree=MeSH" title="MedGen record for Atypical hemolytic-uremic syndrome with anti-factor H antibodies">Atypical hemolytic-uremic syndrome with anti-factor H antibodies</a></span></li><li><span class="TLline"><a href="/medgen/416691" ref="tree=MeSH" title="MedGen record for Atypical hemolytic-uremic syndrome with B factor anomaly">Atypical hemolytic-uremic syndrome with B factor anomaly</a></span></li><li><span class="TLline"><a href="/medgen/442875" ref="tree=MeSH" title="MedGen record for Atypical hemolytic-uremic syndrome with C3 anomaly">Atypical hemolytic-uremic syndrome with C3 anomaly</a></span></li><li><span class="TLline"><a href="/medgen/414542" ref="tree=MeSH" title="MedGen record for Atypical hemolytic-uremic syndrome with I factor anomaly">Atypical hemolytic-uremic syndrome with I factor anomaly</a></span></li><li><span class="TLline"><a href="/medgen/414167" ref="tree=MeSH" title="MedGen record for Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly">Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly</a></span></li><li><span class="TLline"><a href="/medgen/414541" ref="tree=MeSH" title="MedGen record for Atypical hemolytic-uremic syndrome with thrombomodulin anomaly">Atypical hemolytic-uremic syndrome with thrombomodulin anomaly</a></span></li><li><span class="TLline"><a href="/medgen/885565" ref="tree=MeSH" title="MedGen record for Familial Atypical Hemolytic-Uremic Syndrome">Familial Atypical Hemolytic-Uremic Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/430731" ref="tree=MeSH" title="MedGen record for Hemolytic uremic syndrome, atypical, childhood">Hemolytic uremic syndrome, atypical, childhood</a></span></li><li><span class="TLline"><a href="/medgen/370773" ref="tree=MeSH" title="MedGen record for Hemolytic uremic syndrome, atypical, susceptibility to">Hemolytic uremic syndrome, atypical, susceptibility to</a></span></li><li><span class="TLline"><a href="/medgen/412743" ref="tree=MeSH" title="MedGen record for Hemolytic uremic syndrome, atypical, susceptibility to, 1">Hemolytic uremic syndrome, atypical, susceptibility to, 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1826167" ref="tree=MeSH" title="MedGen record for Atypical hemolytic-uremic syndrome with DGKE deficiency">Atypical hemolytic-uremic syndrome with DGKE deficiency</a></span></li><li><span class="TLline"><a href="/medgen/341256" ref="tree=MeSH" title="MedGen record for Cobalamin C disease">Cobalamin C disease</a></span></li><li><span class="TLline"><a href="/medgen/449003" ref="tree=MeSH" title="MedGen record for D-plus hemolytic uremic syndrome (D+HUS)">D-plus hemolytic uremic syndrome (D+HUS)</a></span></li><li><span class="TLline"><a href="/medgen/692756" ref="tree=MeSH" title="MedGen record for Diarrhea-associated hemolytic uremic syndrome">Diarrhea-associated hemolytic uremic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/692757" ref="tree=MeSH" title="MedGen record for Diarrhea-negative hemolytic uremic syndrome">Diarrhea-negative hemolytic uremic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1826072" ref="tree=MeSH" title="MedGen record for Infection-related hemolytic uremic syndrome">Infection-related hemolytic uremic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/383843" ref="tree=MeSH" title="MedGen record for Shiga toxin-associated hemolytic uremic syndrome">Shiga toxin-associated hemolytic uremic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1842720" ref="tree=MeSH" title="MedGen record for Streptococcus pneumoniae-associated hemolytic uremic syndrome">Streptococcus pneumoniae-associated hemolytic uremic syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1391199" ref="tree=MeSH" title="MedGen record for Immune-Mediated Coagulopathy">Immune-Mediated Coagulopathy</a></span></li><li><span class="TLline"><a href="/medgen/163105" ref="tree=MeSH" title="MedGen record for Inherited blood coagulation disorder">Inherited blood coagulation disorder</a></span><ul><li><span class="TLline"><a href="/medgen/2212" ref="tree=MeSH" title="MedGen record for Bernard Soulier syndrome">Bernard Soulier syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/344735" ref="tree=MeSH" title="MedGen record for Bernard-Soulier syndrome type C">Bernard-Soulier syndrome type C</a></span></li><li><span class="TLline"><a href="/medgen/479778" ref="tree=MeSH" title="MedGen record for Bernard-Soulier syndrome, type A1">Bernard-Soulier syndrome, type A1</a></span></li><li><span class="TLline"><a href="/medgen/942003" ref="tree=MeSH" title="MedGen record for Bernard-Soulier syndrome, type A1 (recessive)">Bernard-Soulier syndrome, type A1 (recessive)</a></span></li><li><span class="TLline"><a href="/medgen/341556" ref="tree=MeSH" title="MedGen record for Bernard-Soulier syndrome, type B">Bernard-Soulier syndrome, type B</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/52736" ref="tree=MeSH" title="MedGen record for Glanzmann thrombasthenia">Glanzmann thrombasthenia</a></span></li><li><span class="TLline"><a href="/medgen/82900" ref="tree=MeSH" title="MedGen record for Gray platelet syndrome">Gray platelet syndrome</a></span></li><li><span class="TLline"><a href="/medgen/36313" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome">Hermansky-Pudlak syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/419514" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 1">Hermansky-Pudlak syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/374912" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 2">Hermansky-Pudlak syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/854708" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 3">Hermansky-Pudlak syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/483344" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 4">Hermansky-Pudlak syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/854711" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 5">Hermansky-Pudlak syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/854714" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 6">Hermansky-Pudlak syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/481386" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 7">Hermansky-Pudlak syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/854728" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 8">Hermansky-Pudlak syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/481656" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 9">Hermansky-Pudlak syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/934713" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome 10">Hermansky-Pudlak syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/1843223" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome with pulmonary fibrosis">Hermansky-Pudlak syndrome with pulmonary fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/1842321" ref="tree=MeSH" title="MedGen record for Hermansky-Pudlak syndrome without pulmonary fibrosis">Hermansky-Pudlak syndrome without pulmonary fibrosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/224783" ref="tree=MeSH" title="MedGen record for Upshaw-Schulman syndrome">Upshaw-Schulman syndrome</a></span></li><li><span class="TLline"><a href="/medgen/21921" ref="tree=MeSH" title="MedGen record for Wiskott-Aldrich syndrome">Wiskott-Aldrich syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1387546" ref="tree=MeSH" title="MedGen record for Plasma Kallikrein Deficiency">Plasma Kallikrein Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/396078" ref="tree=MeSH" title="MedGen record for Platelet-type bleeding disorder 17">Platelet-type bleeding disorder 17</a></span></li><li><span class="TLline"><a href="/medgen/69229" ref="tree=MeSH" title="MedGen record for Protein S deficiency disease">Protein S deficiency disease</a></span></li><li><span class="TLline"><a href="/medgen/19584" ref="tree=MeSH" title="MedGen record for Purpura">Purpura</a></span><ul><li><span class="TLline"><a href="/medgen/19585" ref="tree=MeSH" title="MedGen record for Hyperglobulinemic purpura">Hyperglobulinemic purpura</a></span></li><li><span class="TLline"><a href="/medgen/48265" ref="tree=MeSH" title="MedGen record for Immunoglobulin A vasculitis">Immunoglobulin A vasculitis</a></span></li><li><span class="TLline"><a href="/medgen/1623789" ref="tree=MeSH" title="MedGen record for Macular purpura">Macular purpura</a></span><ul><li><span class="TLline"><a href="/medgen/10680" ref="tree=MeSH" title="MedGen record for Petechiae">Petechiae</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1623392" ref="tree=MeSH" title="MedGen record for Palpable purpura">Palpable purpura</a></span></li><li><span class="TLline"><a href="/medgen/88448" ref="tree=MeSH" title="MedGen record for Purpura fulminans">Purpura fulminans</a></span></li><li><span class="TLline"><a href="/medgen/208992" ref="tree=MeSH" title="MedGen record for Thrombocytopenic purpura">Thrombocytopenic purpura</a></span><ul><li><span class="TLline"><a href="/medgen/584986" ref="tree=MeSH" title="MedGen record for Autoimmune thrombocytopenic purpura">Autoimmune thrombocytopenic purpura</a></span></li><li><span class="TLline"><a href="/medgen/48266" ref="tree=MeSH" title="MedGen record for Thrombotic thrombocytopenic purpura">Thrombotic thrombocytopenic purpura</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/237145" ref="tree=MeSH" title="MedGen record for Vascular purpura">Vascular purpura</a></span></li><li><span class="TLline"><a href="/medgen/53065" ref="tree=MeSH" title="MedGen record for Waterhouse-Friderichsen Syndrome">Waterhouse-Friderichsen Syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/19351" ref="tree=MeSH" title="MedGen record for Storage pool disease of platelets">Storage pool disease of platelets</a></span></li><li><span class="TLline"><a href="/medgen/1785620" ref="tree=MeSH" title="MedGen record for Thromboinflammation">Thromboinflammation</a></span></li><li><span class="TLline"><a href="/medgen/98306" ref="tree=MeSH" title="MedGen record for Thrombophilia">Thrombophilia</a></span><ul><li><span class="TLline"><a href="/medgen/391721" ref="tree=MeSH" title="MedGen record for Hereditary thrombophilia">Hereditary thrombophilia</a></span><ul><li><span class="TLline"><a href="/medgen/416465" ref="tree=MeSH" title="MedGen record for Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency">Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency</a></span></li><li><span class="TLline"><a href="/medgen/671121" ref="tree=MeSH" title="MedGen record for Hereditary thrombophilia due to congenital protein C deficiency">Hereditary thrombophilia due to congenital protein C deficiency</a></span></li><li><span class="TLline"><a href="/medgen/748876" ref="tree=MeSH" title="MedGen record for Hereditary thrombophilia due to congenital protein S deficiency">Hereditary thrombophilia due to congenital protein S deficiency</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/403479" ref="tree=MeSH" title="MedGen record for Thrombotic microangiopathy">Thrombotic microangiopathy</a></span><ul><li><span class="TLline"><a href="/medgen/6146" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus">Systemic lupus erythematosus</a></span><ul><li><span class="TLline"><a href="/medgen/592738" ref="tree=MeSH" title="MedGen record for Bullous systemic lupus erythematosus">Bullous systemic lupus erythematosus</a></span></li><li><span class="TLline"><a href="/medgen/156265" ref="tree=MeSH" title="MedGen record for Central nervous system lupus">Central nervous system lupus</a></span></li><li><span class="TLline"><a href="/medgen/482373" ref="tree=MeSH" title="MedGen record for Childhood-Onset Systemic Lupus Erythematosus">Childhood-Onset Systemic Lupus Erythematosus</a></span></li><li><span class="TLline"><a href="/medgen/149262" ref="tree=MeSH" title="MedGen record for Lupus Encephalitis">Lupus Encephalitis</a></span></li><li><span class="TLline"><a href="/medgen/6147" ref="tree=MeSH" title="MedGen record for Lupus nephritis">Lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/101066" ref="tree=MeSH" title="MedGen record for Rash of systemic lupus erythematosus">Rash of systemic lupus erythematosus</a></span></li><li><span class="TLline"><a href="/medgen/355700" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 1">Systemic lupus erythematosus, susceptibility to, 1</a></span></li><li><span class="TLline"><a href="/medgen/343159" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 2">Systemic lupus erythematosus, susceptibility to, 2</a></span></li><li><span class="TLline"><a href="/medgen/381377" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 3">Systemic lupus erythematosus, susceptibility to, 3</a></span></li><li><span class="TLline"><a href="/medgen/374849" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 4">Systemic lupus erythematosus, susceptibility to, 4</a></span></li><li><span class="TLline"><a href="/medgen/322783" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 5">Systemic lupus erythematosus, susceptibility to, 5</a></span></li><li><span class="TLline"><a href="/medgen/332086" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 6">Systemic lupus erythematosus, susceptibility to, 6</a></span></li><li><span class="TLline"><a href="/medgen/355279" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 7">Systemic lupus erythematosus, susceptibility to, 7</a></span></li><li><span class="TLline"><a href="/medgen/355278" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 8">Systemic lupus erythematosus, susceptibility to, 8</a></span></li><li><span class="TLline"><a href="/medgen/369736" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 9">Systemic lupus erythematosus, susceptibility to, 9</a></span></li><li><span class="TLline"><a href="/medgen/436859" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 10">Systemic lupus erythematosus, susceptibility to, 10</a></span></li><li><span class="TLline"><a href="/medgen/393656" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 11">Systemic lupus erythematosus, susceptibility to, 11</a></span></li><li><span class="TLline"><a href="/medgen/436858" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 12">Systemic lupus erythematosus, susceptibility to, 12</a></span></li><li><span class="TLline"><a href="/medgen/382864" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 13">Systemic lupus erythematosus, susceptibility to, 13</a></span></li><li><span class="TLline"><a href="/medgen/413921" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 14">Systemic lupus erythematosus, susceptibility to, 14</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1758357" ref="tree=MeSH" title="MedGen record for Transplant-Associated Thrombotic Microangiopathy">Transplant-Associated Thrombotic Microangiopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1374188" ref="tree=MeSH" title="MedGen record for Tissue Kallikrein Deficiency">Tissue Kallikrein Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/22672" ref="tree=MeSH" title="MedGen record for Vitamin K deficiency">Vitamin K deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/439355" ref="tree=MeSH" title="MedGen record for Vitamin K Deficiency Bleeding">Vitamin K Deficiency Bleeding</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_322968"><div><strong>MPDU1-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322968</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.">C1836669</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a discussion of the classification of CDGs, see CDG Ia (212065).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/322968">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_330741"><div><strong>Globulin anomaly involving beta (2A)-globulin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330741</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.">C1842009</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/330741">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_335883"><div><strong>Congenital bile acid synthesis defect 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335883</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.">C1843116</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract resulting from a primary failure to synthesize bile acids. Affected infants show failure to thrive and secondary coagulopathy. In most forms of the disorder, there is a favorable response to oral bile acid therapy (summary by Cheng et al., 2003). Genetic Heterogeneity of Congenital Defects in Bile Acid Synthesis There are several disorders that result from defects in bile acid synthesis. See CBAS2 (235555), caused by mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1; 604741) on chromosome 7q33; CBAS3 (613812), caused by mutation in the 7-alpha hydroxylase gene (CYP7B1; 603711) on chromosome 8q12; CBAS4 (214950), caused by mutation in the AMACR gene (604489) on chromosome 5p13; CBAS5 (616278), caused by mutation in the ABCD3 gene (170995) on chromosome 1p21; and CBAS6 (617308), caused by mutation in the ACOX2 gene (601641) on chromosome 3p14. See also progressive familial intrahepatic cholestasis (PFIC1; 211600), which has a similar phenotype.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/335883">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_376309"><div><strong>Heterotopia, periventricular, X-linked dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376309</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.">C1848213</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">FLNA deficiency is associated with a phenotypic spectrum that includes FLNA-related periventricular nodular heterotopia (Huttenlocher syndrome), congenital heart disease (patent ductus arteriosus, atrial and ventricular septal defects), valvular dystrophy, dilatation and rupture of the thoracic aorta, pulmonary disease (pulmonary hypertension, alveolar hypoplasia, emphysema, asthma, chronic bronchitis), gastrointestinal dysmotility and obstruction, joint hypermobility, and macrothrombocytopenia.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/376309">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_338045"><div><strong>Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338045</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.">C1850406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/338045">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_383840"><div><strong>Congenital bile acid synthesis defect 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383840</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.">C1856127</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Bile is used during digestion to absorb fats and fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 2 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced.\n\nThe signs and symptoms of congenital bile acid synthesis defect type 2 often develop in infancy. Affected infants usually have a failure to gain weight and grow at the expected rate (failure to thrive) and yellowing of the skin and eyes (jaundice) due to impaired bile flow and a buildup of partially formed bile. Excess fat in the feces (steatorrhea) is another feature of congenital bile acid synthesis defect type 2. As the condition progresses, affected individuals can develop liver abnormalities including inflammation or chronic liver disease (cirrhosis). Some individuals with congenital bile acid synthesis defect type 2 cannot absorb certain fat-soluble vitamins, which can result in softening and weakening of the bones (rickets) or problems with blood clotting that lead to prolonged bleeding.\n\nIf left untreated, congenital bile acid synthesis defect type 2 typically leads to cirrhosis and death in childhood.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/383840">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_395227"><div><strong>Celiac disease, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395227</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.">C1859310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, malabsorption, abdominal pain and distension, bloating, vomiting, and weight loss) and/or highly variable non-gastrointestinal findings (dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, iron deficiency anemia, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than non-classic celiac disease, characterized by absence of gastrointestinal symptoms.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/395227">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_409627"><div><strong>Autosomal recessive osteopetrosis 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409627</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.">C1968603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal recessive osteopetrosis-5 (OPTB5) is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (summary by Quarello et al., 2004).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/409627">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_383145"><div><strong>RFT1-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383145</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.">C2677590</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006). For a discussion of the classification of CDGs, see CDG1A (212065).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/383145">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_443948"><div><strong>Malignant hyperthermia, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>443948</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.">C2930980</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/443948">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815852"><div><strong>Infantile liver failure syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815852</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.">C3809522</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815852">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_873604"><div><strong>3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>873604</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.">C4040739</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of SERAC1 deficiency comprises MEGD(H)EL syndrome (3-methylglutaconic aciduria with deafness-dystonia, [hepatopathy], encephalopathy, and Leigh-like syndrome), juvenile-onset complicated hereditary spastic paraplegia (in 1 consanguineous family), and adult-onset generalized dystonia (in 1 adult male). MEGD(H)EL syndrome is characterized in neonates by hypoglycemia and a sepsis-like clinical picture for which no infectious agent can be found. During the first year of life feeding problems, failure to thrive, and/or truncal hypotonia become evident; many infants experience (transient) liver involvement ranging from undulating transaminases to prolonged hyperbilirubinemia and near-fatal liver failure. By age two years progressive deafness, dystonia, and spasticity prevent further psychomotor development and/or result in loss of acquired skills. Affected children are completely dependent on care for all activities of daily living; speech is absent.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/873604">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1786100"><div><strong>Mitochondrial complex IV deficiency, nuclear type 22</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1786100</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.">C5543491</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 22 (MC4DN22) is an autosomal recessive metabolic disorder characterized by neonatal hypertrophic cardiomyopathy, encephalopathy, and severe lactic acidosis with fatal outcome (Wintjes et al., 2021). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1786100">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_873604" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_409627" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive osteopetrosis 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395227" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Celiac disease, susceptibility to, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital bile acid synthesis defect 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383840" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital bile acid synthesis defect 2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_330741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Globulin anomaly involving beta (2A)-globulin</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376309" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotopia, periventricular, X-linked dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815852" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile liver failure syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_443948" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malignant hyperthermia, susceptibility to, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1786100" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex IV deficiency, nuclear type 22</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MPDU1-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">RFT1-congenital disorder of glycosylation</a></div></span></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/34437785">Heparin Resistance - Clinical Perspectives and Management Strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levy JH,
|
||
Connors JM</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2021 Aug 26;385(9):826-832.
|
||
doi: 10.1056/NEJMra2104091.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34437785" target="_blank">34437785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31770441">Updated international consensus report on the investigation and management of primary immune thrombocytopenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Provan D,
|
||
Arnold DM,
|
||
Bussel JB,
|
||
Chong BH,
|
||
Cooper N,
|
||
Gernsheimer T,
|
||
Ghanima W,
|
||
Godeau B,
|
||
González-López TJ,
|
||
Grainger J,
|
||
Hou M,
|
||
Kruse C,
|
||
McDonald V,
|
||
Michel M,
|
||
Newland AC,
|
||
Pavord S,
|
||
Rodeghiero F,
|
||
Scully M,
|
||
Tomiyama Y,
|
||
Wong RS,
|
||
Zaja F,
|
||
Kuter DJ</span><br />
|
||
<span class="medgenPMjournal">Blood Adv</span>
|
||
2019 Nov 26;3(22):3780-3817.
|
||
doi: 10.1182/bloodadvances.2019000812.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31770441" target="_blank">31770441</a><a href="/pmc/articles/PMC6880896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30879080">European consensus-based recommendations for diagnosis and treatment of immunoglobulin A vasculitis-the SHARE initiative.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ozen S,
|
||
Marks SD,
|
||
Brogan P,
|
||
Groot N,
|
||
de Graeff N,
|
||
Avcin T,
|
||
Bader-Meunier B,
|
||
Dolezalova P,
|
||
Feldman BM,
|
||
Kone-Paut I,
|
||
Lahdenne P,
|
||
McCann L,
|
||
Pilkington C,
|
||
Ravelli A,
|
||
van Royen A,
|
||
Uziel Y,
|
||
Vastert B,
|
||
Wulffraat N,
|
||
Kamphuis S,
|
||
Beresford MW</span><br />
|
||
<span class="medgenPMjournal">Rheumatology (Oxford)</span>
|
||
2019 Sep 1;58(9):1607-1616.
|
||
doi: 10.1093/rheumatology/kez041.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30879080" target="_blank">30879080</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20coagulation%20cascade)%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 (6040)</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/37252892">A focus on dominant negative variants in a series of 170 heterozygous FXI-deficient patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Mazancourt P,
|
||
Quélin F,
|
||
Flaujac C,
|
||
de Raucourt E,
|
||
Guillet B,
|
||
Bauduer F,
|
||
Ernest V,
|
||
Beurrier P,
|
||
Avril A,
|
||
d'Oiron R,
|
||
Biron-Andréani C,
|
||
Meunier S,
|
||
Dargaud Y</span><br />
|
||
<span class="medgenPMjournal">Haemophilia</span>
|
||
2023 Jul;29(4):1113-1120.
|
||
Epub 2023 May 30
|
||
doi: 10.1111/hae.14802.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37252892" target="_blank">37252892</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20coagulation%20cascade%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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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=C0005779%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
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<li><a href="/gtr/tests?term=C0005779%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0005779%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
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</ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Abnormality%20of%20the%20coagulation%20cascade" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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