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thrombophilia due to protein S deficiency, autosomal dominant

Disease Summary
Associated Targets (1)


Mondo Description Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency.
Uniprot Description A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Based on the plasma levels of total and free PROS1 as well as the serine protease-activated protein C cofactor activity, three types of THPH5 have been described: type I, characterized by reduced total and free PROS1 levels together with reduced anticoagulant activity; type III, in which only free PROS1 antigen and PROS1 activity levels are reduced; and the rare type II which is characterized by normal concentrations of both total and free PROS1 antigen, but low cofactor activity.
Mondo Term and Equivalent IDs
MONDO:0012868:  thrombophilia due to protein S deficiency, autosomal dominant