Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Combined deficiency of vitamin K-dependent clotting factors type 1

The disease with the acronyme VKCFD1 is characterized by an autosomal recessive combined deficiency of vitamin-k dependent coagulation factors (I, VII, IX, and X) which is caused by loss-of-function mutations of the gamma-glutamyl carboxylase (GGCX) gene.

Systematic

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
Coumarin resistance
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
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