" /> Thrombophilia due to activated protein C resistance - CISMeF





Preferred Label : Thrombophilia due to activated protein C resistance;

Symbol : THPH2;

CISMeF acronym : THPH2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Activated protein C resistance; Apc resistance; Thrombophilia due to deficiency of activated protein C cofactor; Proc cofactor deficiency; Pccf deficiency; Thrombophilia V;

Included titles and symbols : Thrombophilia due to factor V leiden;

Description : Thrombophilia due to activated protein C resistance is due to a mutation in the F5 gene that renders factor V resistant to cleavage and inactivation by activated protein C (PROC; 612283) and results in a tendency to thrombosis. See also factor V deficiency (227400), an allelic disorder resulting in a hemorrhagic diathesis due to lack of factor V. The most common mutation that causes this disorder is referred to as factor V Leiden (R506Q; 612309.0001), named after the town in the Netherlands where Bertina et al. (1994) discovered the defect. Homozygosity increases the risk of thrombotic complications to a greater extent that heterozygosity. However, heterozygous presence of the mutation may be combined with defects in other genes in the clotting pathway to contribute to the disorder. Expressivity is variable and influenced by environment.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the coagulation factor V gene (F5, 612309.0001);

Laboratory abnormalities : Resistance to activated protein C; Poor anticoagulant response to exogenous activated protein C as measured by the activated partial thromboplastin time (APTT);

Prefixed ID : #188055;

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29/04/2025


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