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GTR Home > Conditions/Phenotypes > Vitamin K-dependent clotting factors, combined deficiency of, type 2

Vitamin K-dependent clotting factors, combined deficiency of, type 2

Summary

Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration 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 (Fregin et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of combined deficiency of vitamin K-dependent clotting factors, see VKCFD1 (277450). [from OMIM]

Available tests

18 tests are in the database for this condition.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EDTP308, MST134, MST576, VKCFD2, VKOR, VKORC1
    Summary: vitamin K epoxide reductase complex subunit 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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