heparin cofactor II deficiency

info · Genetic

A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21.

Signs and symptoms

Recurrent deep vein thrombosis
Disseminated intravascular coagulation
Post-angioplasty coronary artery restenosis

Also known as: HCF 2 deficiency; HCF II deficiency; THPH10; thrombophilia due to heparin cofactor II deficiency