Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Kombinierter Mangel an Vitamin-K-abhängigen Koagulationsfaktoren Typ 1

Die Krankheit mit der Kurzbezeichnung VKCFD1 ist durch ein autosomal rezessiver Mangel an allen Vitamin-K-abhängigen Koagulationsfaktoren (I, VII, IX und X), der durch eine Mutation der gamma-Glutamylcarboxylase (GGCX) bedingt ist.

Gliederung

Störungen des Vitamin K-Stoffwechsels
Coumarin-Resistenz
Kombinierter Mangel an Vitamin-K-abhängigen Koagulationsfaktoren Typ 1
GGCX
Kombinierter Mangel an Vitamin-K-abhängigen Koagulationsfaktoren Typ 2
Pseudoxanthoma elasticum-ähnliche Erkrankung mit komplexem Gerinnungsfaktorenmangel

Referenzen:

1.

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

external link
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.

external link
3.

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

external link
4.

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

external link
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.

external link
6.

None (1985) Vitamin K-dependent carboxylase.

external link
7.

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

external link
8.

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

external link
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.

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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

external link
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.

external link
15.

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

external link
16.

OMIM.ORG article

Omim 277450 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz