Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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

References:

1.

Brenner B et al. (1990) Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants.

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2.

Brenner B et al. (1998) A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors.

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3.

NEWCOMB T et al. (1956) Congenital hemorrhagic diathesis of the prothrombin complex.

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4.

Furie B et al. (1990) Molecular basis of vitamin K-dependent gamma-carboxylation.

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5.

Pauli RM et al. (1987) Association of congenital deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of the warfarin embryopathy: clues to the mechanism of teratogenicity of coumarin derivatives.

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6.

None (1985) Vitamin K-dependent carboxylase.

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7.

Chung KS et al. (1979) Congenital deficiency of blood clotting factors II, VII, IX, and X.

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8.

McMillan CW et al. (1966) Congenital combined deficiency of coagulation factors II, VII, IX and X. Report of a case.

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9.

Soff GA et al. (1981) Familial multiple coagulation factor deficiencies. I. Review of the literature: Differentiation of single hereditary disorders associated with multiple factor deficiencies from coincidental concurrence of single factor deficiency states.

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10.

Hall JG et al. (1980) Maternal and fetal sequelae of anticoagulation during pregnancy.

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11.

Goldsmith GH et al. (1982) Studies on a family with combined functional deficiencies of vitamin K-dependent coagulation factors.

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12.

Johnson CA et al. (1980) Characterization of a variant prothrombin in a patient congenitally deficient in factors II, VII, IX and X.

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13.

Howe AM et al. (1997) Severe cervical dysplasia and nasal cartilage calcification following prenatal warfarin exposure.

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14.

Menger H et al. (1997) Vitamin K deficiency embryopathy: a phenocopy of the warfarin embryopathy due to a disorder of embryonic vitamin K metabolism.

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15.

Khau Van Kien P et al. (1998) Vitamin K deficiency embryopathy.

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16.

OMIM.ORG article

Omim 277450 [^]
Update: April 29, 2019