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GTR Home > Conditions/Phenotypes > Vitamin K-dependent clotting factors, combined deficiency of, type 1

Vitamin K-dependent clotting factors, combined deficiency of, type 1

Synonyms
FACTORS II, VII, IX, AND X, COMBINED DEFICIENCY OF; FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY III; FMFD III; GLUTAMIC ACID, DEFICIENT GAMMA-CARBOXYLATION OF; MULTIPLE COAGULATION FACTOR DEFICIENCY III; VITAMIN K-DEPENDENT COAGULATION DEFECT
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Acquired forms of the disorder can be caused by intestinal malabsorption of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome. The pathomechanism is based on a reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors, as well as the anticoagulant factors protein C (612283) and protein S (176880). Posttranslational gamma-carboxylation of proteins enables the calcium-dependent attachment of the proteins to the phospholipid bilayer of membranes, an essential prerequisite for blood coagulation. Vitamin K1 acts as a cofactor for the vitamin K-dependent carboxylase in liver microsomes, GGCX. Genetic Heterogeneity of Combined Deficiency of Vitamin K-Dependent Clotting Factors Combined deficiency of vitamin K-dependent clotting factors-2 (VKFCD2; 607473) is caused by mutation in the gene encoding vitamin K epoxide reductase (VKORC1; 608547) on chromosome 16p11. [from OMIM]

Available tests

24 tests are in the database for this condition.

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Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: VKCFD1, GGCX
    Summary: gamma-glutamyl carboxylase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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