Factor V and factor VIII, combined deficiency of, 1

Preferred Label : Factor V and factor VIII, combined deficiency of, 1;

Symbol : F5F8D1;

CISMeF acronym : FMFD1; F5F8D1; MCFD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FMFD1; Fmfd I; Multiple coagulation factor deficiency I; Familial multiple coagulation factor deficiency I; MCFD1;

Description : Combined deficiency of factor V (612309) and factor VIII (300841) is characterized by bleeding symptoms similar to those in hemophilia (306700) or parahemophilia (227400), caused by single deficiency of FV or FVIII, 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 VII (F5F8D2; 613625) is caused by mutation in the MCFD2 gene (607788) on chromosome 2.;

Inheritance : Autosomal recessive;

Prefixed ID : #227300;

Détails

Origin ID

227300;

UMLS CUI

C4551981;

Automatic exact mappings (from CISMeF team)
- familial multiple coagulation factor deficiency I [MeSH concept]
- lectin, mannose binding 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Combined deficiency of factor V and factor VIII [ORDO Disease]
- Combined deficiency of factor V and factor VIII (disorder) [SNOMED CT concept]
- familial multiple coagulation factor deficiency I [MeSH Supplementary Concept]
Genes related to phenotype
- Lectin, mannose-binding 1 [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Autosomal recessive inheritance [HPO term]
- Reduced coagulation factor V activity [HPO term]
- Reduced factor VIII activity [HPO term]
ORDO concept(s)
- Combined deficiency of factor V and factor VIII [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined deficiency of factor V and factor VIII [ORDO Disease]
- Combined deficiency of factor V and factor VIII (disorder) [SNOMED CT concept]
- familial multiple coagulation factor deficiency I [MeSH concept]
- familial multiple coagulation factor deficiency I [MeSH Supplementary Concept]

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