vitamin K-dependent clotting factors, combined deficiency of, 2

(redirected from combined deficiency of vitamin K-dependent clotting factors type 2)

vitamin K-dependent clotting factors, combined deficiency of, 2

An autosomal recessive coagulopathy (OMIM:607473) caused by a deficiency of all vitamin K-dependent clotting factors, which usually responds to administration of vitamin K. 

Molecular pathology
Caused by defects of VKORC1, which encodes the catalytic subunit of the vitamin K epoxide reductase (VKOR) complex that reduces inactive vitamin K 2,3-epoxide to active vitamin K.
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