autosomal dominant thrombophilia due to protein C deficiency

info · Genetic

A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3.

Signs and symptoms

Reduced protein C activity
Abnormality of the nervous system
Hypercoagulability
Superficial thrombophlebitis
Deep venous thrombosis
Warfarin-induced skin necrosis
Abnormality of the eye
Pulmonary embolism
Cerebral venous thrombosis

Also known as: THPH3; autosomal dominant PROC deficiency; autosomal dominant protein C deficiency