Conditions / Genetic

autosomal dominant thrombophilia due to protein S deficiency

info ยท Genetic

A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1.

Signs and symptoms

  • Arterial thrombosis
  • Purpura
  • Hypercoagulability
  • Superficial thrombophlebitis
  • Warfarin-induced skin necrosis
  • Reduced protein S activity
  • Cerebral venous thrombosis
  • Pulmonary embolism

Also known as: THPH5