Details of Disease | DrugMAP

General Information of Disease (ID: DISSFUFN)

Disease Name	Congenital factor V deficiency
Synonyms	factor V deficiency; factor 5 deficiency; Owren Parahemophilia; labile Factor deficiency; hereditary factor V deficiency; labile factor deficiency; hereditary Factor V deficiency; hereditary hypoproaccelerinaemia; Parahemophilia; deficiency, labile; Proaccelerin deficiency; Owren disease; congenital factor V deficiency
Definition	Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.
Disease Hierarchy	DISDHTS2: Factor V deficiency DIS1DL2M: Inherited blood coagulation disorder DIS27CUA: Bleeding disorder DISSFUFN: Congenital factor V deficiency
Disease Identifiers	MONDO ID MONDO_0009210 MESH ID D005166 UMLS CUI C0015499 OMIM ID 227400 MedGen ID 4633 Orphanet ID 326 SNOMED CT ID 88776002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
F5	TT1O264	Strong	Genetic Variation	[1]
F5	TT1O264	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
F5	OTDMZ3LT	Definitive	Autosomal recessive	[2]
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References

1	Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192.
2	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.