autosomal recessive thrombophilia due to protein S deficiency

info · Genetic

A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1.

Signs and symptoms

Cerebral hemorrhage
Disseminated intravascular coagulation
Seizure
Anemia
Purpura
Hypercoagulability
Reduced protein S activity
Arterial thrombosis
Blindness
Superficial thrombophlebitis

Also known as: THPH6; autosomal recessive thrombophilia due to congenital protein S deficiency; severe hereditary thrombophilia due to congenital protein S deficiency