combined deficiency of vitamin K-dependent clotting factors 1

info · Genetic

A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2.

Signs and symptoms

Reduced factor IX activity
Prolonged prothrombin time
Reduced factor X activity
Reduced factor VII activity
Reduced protein S activity
Abnormal bleeding
Short nose
Epiphyseal stippling
Short distal phalanx of finger
Bruising susceptibility

Also known as: VKCFD1