DISEASE: Combined deficiency of vitamin K-dependent clotting factors
Entry
H00995 Disease
Name
Combined deficiency of vitamin K-dependent clotting factors
Description
Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a rare congenital bleeding disorder consisting of a deficiency of clotting factors II, VII, IX, and X , as well as the coagulation inhibitors protein C, protein S, and protein Z. VKCFD leads to a bleeding tendency with a variegate clinical picture. Two subtypes have been identified, deriving from mutations of two enzymes of the vitamin K cycle. VKCFD type1 is defined by defective GGCX activity, while VKCFD type 2 derives from functional deficiency of VKORC.
Category
Cardiovascular disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Coagulation defects, purpura or other haemorrhagic or related conditions
Coagulation defects
Congenital or constitutional haemorrhagic condition
3B14 Other inherited coagulation factor deficiency with bleeding tendency
H00995 Combined deficiency of vitamin K-dependent clotting factors
