Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Disturbances of vitamin K metabolism

if vitamin K metabolism is disturbed a bleeding disorder similar to wafarin medication ensues. A combined factor II, VII, IX, and X deficiency is observed.

Systematic

Hereditary bleeding disorders
Afibrinogenemia
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
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
GGCX
Dysfibrinogenemia
Factor XII deficiency
Factor XIII A subunit deficiency
Factor XIII B subunit deficiency
Plasminogen activator inhibitor 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.

Garcia AA et al. (2008) VKORC1 and the vitamin K cycle.

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3.

Orphanet article

Orphanet ID 93442 [^]
Update: May 10, 2019