Combined deficiency of vitamin K-dependent clotting factors type 2
The disease with the acronyme VKCFD2 is characterized by an autosomal recessive combined deficiency of vitamin-k dependent coagulation factors (I, VII, IX, and X) which is caused by a mutations of subunit 1 vitamin K epoxide reductase complex (VKORC1) gene.
Rost S et al. (2004) Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.[^]
Oldenburg J et al. (2000) Congenital deficiency of vitamin K dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase-complex.[^]
Fregin A et al. (2002) Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16.[^]
OMIM.ORG articleOmim 607473 [^]