autosomal recessive thrombophilia due to protein C deficiency

info · Genetic

A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3.

Signs and symptoms

Reduced protein C activity
Vitreous hemorrhage
Seizure
Global developmental delay
Cerebral palsy
Purpura
Hypercoagulability
Superficial thrombophlebitis
Pulmonary embolism
Recurrent deep vein thrombosis

Also known as: THPH4; autosomal recessive PROC deficiency; autosomal recessive protein C deficiency