Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

Systematic

Disturbances of vitamin K metabolism
Combined deficiency of vitamin K-dependent clotting factors type 1
Combined deficiency of vitamin K-dependent clotting factors type 2
VKORC1
Coumarin resistance
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency

References:

1.

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

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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.

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3.

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.

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4.

OMIM.ORG article

Omim 607473 [^]
Update: April 29, 2019