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GTR Home > Conditions/Phenotypes > Factor V and factor VIII, combined deficiency of, type 1

Factor V and factor VIII, combined deficiency of, type 1

Synonyms
Combined factor V and VIII deficiency; FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY I; FMFD I; MULTIPLE COAGULATION FACTOR DEFICIENCY I

Summary

Combined deficiency of factor V and factor VIII (F5F8D1) is characterized by bleeding symptoms similar to those in hemophilia (306700) or parahemophilia (227400), caused by single deficiency of factor V (612309) or factor VIII (300840), respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by Zhang and Ginsburg, 2004). Genetic Heterogeneity of Combined Deficiency of Factor V and Factor VIII Another form of combined deficiency of factor V and factor VIII (F5F8D2; 613625) is caused by mutation in the MCFD2 gene (607788) on chromosome 2p21. [from OMIM]

Available tests

19 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ERGIC-53, ERGIC53, F5F8D, FMFD1, MCFD1, MR60, gp58, LMAN1
    Summary: lectin, mannose binding 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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