Thrombophilia due to activated protein C resistance

Common Name(s)

Thrombophilia due to activated protein C resistance

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 {2: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.
 

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