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GTR Home > Conditions/Phenotypes > Factor 5 and Factor VIII, combined deficiency of, 2

Factor 5 and Factor VIII, combined deficiency of, 2

Synonyms
Factor v and factor viii, combined deficiency of, 2

Summary

Combined deficiency of factor V and factor VIII type 2 (F5F8D2) is characterized by bleeding symptoms similar to those in hemophilia (306700) or parahemophilia (227400), caused by single deficiency of FV (612309) or FVIII (300841), 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 F5F8D2 is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by Zhang and Ginsburg, 2004). For a general phenotypic description and a discussion of genetic heterogeneity of F5F8D, see 227300. [from OMIM]

Available tests

16 tests are in the database for this condition.

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Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: F5F8D, F5F8D2, LMAN1IP, SDNSF, MCFD2
    Summary: multiple coagulation factor deficiency 2, ER cargo receptor complex subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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