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Combined deficiency of vitamin K-dependent clotting factors type 2
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Combined deficiency of vitamin K-dependent clotting factors type 2

Clinical feature: 

Definition: 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.

Systematic link table: 

Disturbances of vitamin K metabolism
Combined deficiency of vitamin K-dependent clotting factors type 1
GGCX
Combined deficiency of vitamin K-dependent clotting factors type 2
VKORC1
Coumarin resistance
CYP2A6
CYP2C9
CYP4F2
VKORC1

Literature: 

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.
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.
Rost S et al. (2004) Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.