Details of Disease | DrugMAP

General Information of Disease (ID: DIS40TZ9)

Disease Name	Factor 5 and Factor VIII, combined deficiency of, 2
Synonyms	factor V and factor VIII, combined deficiency of, 2; F5F8D2; MCFD2 combined deficiency of factor V and factor VIII; factor 5 and Factor VIII, combined deficiency of, type 2; factor V and factor VIII, combined deficiency of; combined deficiency of factor V and factor VIII caused by mutation in MCFD2; factor 5 and Factor VIII, combined deficiency of, 2
Definition	Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene.
Disease Hierarchy	DISZM9BG: Combined deficiency of factor V and factor VIII DIS1DL2M: Inherited blood coagulation disorder DIS40TZ9: Factor 5 and Factor VIII, combined deficiency of, 2
Disease Identifiers	MONDO ID MONDO_0013331 UMLS CUI C3150889 OMIM ID 613625 MedGen ID 462239

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MCFD2	OTM0XU0U	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.