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<!--
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||
UID=375979
|
||
ConceptID=C1846821
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of coagulation</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375979</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.">C1846821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Coagulation abnormalities</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:0001928">HP:0001928</a></td></tr>
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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 process of blood coagulation. That is, altered ability or inability of the blood to clot. [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 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>
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<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=C1846821[DISCUI]&test_type=Clinical" ref="ncbi_uid=375979">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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=375979" ref="ncbi_uid=375979">V</a></span></span><span class="TLline">Abnormality of coagulation</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="matched_ds">Abnormality of coagulation</span><ul><li><span class="TLline"><a href="/medgen/898209" ref="tree=MeSH" title="MedGen record for Abnormality of fibrinolysis">Abnormality of fibrinolysis</a></span><ul><li><span class="TLline"><a href="/medgen/1863790" ref="tree=MeSH" title="MedGen record for Abnormal circulating plasminogen activator inhibitor 1 activity">Abnormal circulating plasminogen activator inhibitor 1 activity</a></span><ul><li><span class="TLline"><a href="/medgen/1863917" ref="tree=MeSH" title="MedGen record for Elevated circulating plasminogen activator inhibitor 1 activity">Elevated circulating plasminogen activator inhibitor 1 activity</a></span></li><li><span class="TLline"><a href="/medgen/906749" ref="tree=MeSH" title="MedGen record for Reduced plasminogen activator inhibitor 1 activity">Reduced plasminogen activator inhibitor 1 activity</a></span></li><li><span class="TLline"><a href="/medgen/897922" ref="tree=MeSH" title="MedGen record for Reduced plasminogen activator inhibitor 1 antigen">Reduced plasminogen activator inhibitor 1 antigen</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/677042" ref="tree=MeSH" title="MedGen record for Elevated circulating D-dimer concentration">Elevated circulating D-dimer concentration</a></span></li><li><span class="TLline"><a href="/medgen/882781" ref="tree=MeSH" title="MedGen record for Hyperfibrinolysis">Hyperfibrinolysis</a></span></li><li><span class="TLline"><a href="/medgen/898698" ref="tree=MeSH" title="MedGen record for Prolonged euglobulin clot lysis time">Prolonged euglobulin clot lysis time</a></span></li><li><span class="TLline"><a href="/medgen/908297" ref="tree=MeSH" title="MedGen record for Reduced euglobulin clot lysis time">Reduced euglobulin clot lysis time</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/604" ref="tree=MeSH" title="MedGen record for Abnormality of the coagulation cascade">Abnormality of the coagulation cascade</a></span><ul><li><span class="TLline"><a href="/medgen/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></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></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></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></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></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></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></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></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></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></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></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></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></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><li><span class="TLline"><a href="/medgen/8769" ref="tree=MeSH" title="MedGen record for Factor VII deficiency">Factor VII deficiency</a></span></li><li><span class="TLline"><a href="/medgen/4635" ref="tree=MeSH" title="MedGen record for Factor X deficiency">Factor X deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1385982" ref="tree=MeSH" title="MedGen record for Factor XIII deficiency">Factor XIII deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1372663" ref="tree=MeSH" title="MedGen record for Fibrinogen deficiency">Fibrinogen deficiency</a></span></li><li><span class="TLline"><a href="/medgen/146334" ref="tree=MeSH" title="MedGen record for Hemophilia">Hemophilia</a></span></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></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/7919" ref="tree=MeSH" title="MedGen record for Afibrinogenemia">Afibrinogenemia</a></span></li><li><span class="TLline"><a href="/medgen/4633" ref="tree=MeSH" title="MedGen record for Congenital factor V deficiency">Congenital factor V deficiency</a></span></li><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><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><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><li><span class="TLline"><a href="/medgen/22686" ref="tree=MeSH" title="MedGen record for von Willebrand disorder">von Willebrand disorder</a></span></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/226778" ref="tree=MeSH" title="MedGen record for Dysfibrinogenemia">Dysfibrinogenemia</a></span></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></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></li></ul></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/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></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></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></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></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></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/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></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><li><span class="TLline"><a href="/medgen/66815" ref="tree=MeSH" title="MedGen record for Prolonged partial thromboplastin time">Prolonged partial thromboplastin time</a></span></li><li><span class="TLline"><a href="/medgen/1687820" ref="tree=MeSH" title="MedGen record for Prolonged reptilase time">Prolonged reptilase time</a></span></li><li><span class="TLline"><a href="/medgen/488780" ref="tree=MeSH" title="MedGen record for Prolonged whole-blood clotting time">Prolonged whole-blood clotting time</a></span></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_344290"><div><strong>Noonan syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344290</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.">C1854469</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/344290">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_860832"><div><strong>SSR4-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>860832</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.">C4012395</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 disorder of glycosylation type Iy (CDG1Y) is an X-linked disorder characterized by developmental delay, speech delay, impaired intellectual development, muscular hypotonia, microcephaly, and distinctive facial features (summary by Johnsen et al., 2024).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/860832">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1379805"><div><strong>Noonan syndrome-like disorder with loose anagen hair 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1379805</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.">C4478716</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (163950), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see 139250) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Reviews Komatsuzaki et al. (2010) reviewed the clinical manifestations of patients with Noonan syndrome, Costello syndrome (218040), and cardiofaciocutaneous syndrome (CFC; see 115150) compared to patients with mutations in the SHOC2 gene. They noted that although there is phenotypic overlap among the disorders, loose anagen/easily pluckable hair had not been reported in mutation-positive patients with Noonan, CFC, or Costello syndrome, and appeared to be a distinctive feature of SHOC2 mutation-positive patients. Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen Hair NSLH2 (617506) is caused by mutation in the PPP1CB gene (600590) on chromosome 2p23.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1379805">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1719382"><div><strong>Mitochondrial complex 3 deficiency, nuclear type 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1719382</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.">C5394051</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/1719382">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1823968"><div><strong>Liver disease, severe congenital</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823968</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.">C5774195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Severe congenital liver disease (SCOLIV) is an autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Affected individuals show feeding difficulties with failure to thrive and features such as jaundice, hepatomegaly, and abdominal distension. Laboratory workup is consistent with hepatic insufficiency and may also show coagulation defects, anemia, or metabolic disturbances. Cirrhosis and hypernodularity are commonly observed on liver biopsy. Many patients die of liver failure in early childhood (Moreno Traspas et al., 2022).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1823968">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Liver disease, severe congenital</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1719382" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 3 deficiency, nuclear type 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344290" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1379805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome-like disorder with loose anagen hair 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_860832" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">SSR4-congenital disorder of glycosylation</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32208840">Clinical observation and management of COVID-19 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li T,
|
||
Lu H,
|
||
Zhang W</span><br />
|
||
<span class="medgenPMjournal">Emerg Microbes Infect</span>
|
||
2020 Dec;9(1):687-690.
|
||
doi: 10.1080/22221751.2020.1741327.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32208840" target="_blank">32208840</a><a href="/pmc/articles/PMC7103696" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27913486">Heavy menstrual bleeding: work-up and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">James AH</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2016 Dec 2;2016(1):236-242.
|
||
doi: 10.1182/asheducation-2016.1.236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27913486" target="_blank">27913486</a><a href="/pmc/articles/PMC6142441" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7181527">Effects of fresh frozen plasma infusions on coagulation screening tests in neonates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson CA,
|
||
Snyder MS,
|
||
Weaver RL</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
1982 Dec;57(12):950-2.
|
||
doi: 10.1136/adc.57.12.950.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7181527" target="_blank">7181527</a><a href="/pmc/articles/PMC1628077" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22abnormality%20of%20coagulation%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3)</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">
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||
<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%20coagulation%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">
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||
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</div>
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||
<div class=" bottom">
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||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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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 mgSection" id="ID_106">
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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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1846821%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (40)</a></li>
|
||
<li><a href="/gtr/tests?term=C1846821%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (41)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1846821%5bDISCUI%5d" target="_blank">See all (41)</a></total></li>
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</ul></div>
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</div>
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<div class="portlet mgSection" id="ID_119">
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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%20coagulation" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
||
|
||
<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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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22abnormality%20of%20coagulation%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Abnormality%20of%20coagulation%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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</div>
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<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Abnormality%20of%20coagulation" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
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<div class="portlet_title">
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<h3>Reviews</h3>
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</div>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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<div class="portlet_content">
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<ul>
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<li>
|
||
<a href="/pubmed/clinical?term=Abnormality%20of%20coagulation" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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</li>
|
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<li>
|
||
<a href="/pubmed?term=Abnormality%20of%20coagulation%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
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</li>
|
||
</ul>
|
||
</div>
|
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</div>
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|
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<!-- MedGen supplemental column ends here -->
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<div class="portlet brieflink">
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<div class="portlet_head">
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<div class="portlet_title">
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<h3>Related information</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
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<div class="portlet_content DiscoveryDbLinks">
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<ul>
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<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=375979" ref="log$=recordlinks">ClinVar</a>
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||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1846821[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1846821[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=375979" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=375979" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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||
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||
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
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|
||
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||
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||
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