Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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.

external link
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.

external link
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.

external link
4.

OMIM.ORG article

Omim 607473 external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits