Details of Disease | DrugMAP

General Information of Disease (ID: DIS1K6SD)

Disease Name	Factor V and factor VIII, combined deficiency of, type 1
Synonyms	FMFD 1; F5F8D1; multiple coagulation Factor deficiency 1; factor V and factor VIII, combined deficiency of, 1; familial multiple coagulation Factor deficiency 1; factor 5 and Factor VIII, combined deficiency of, 1; LMAN1 combined deficiency of factor V and factor VIII; combined deficiency of factor V and factor VIII caused by mutation in LMAN1; factor V and factor VIII, combined deficiency of, type 1; combined factor V and VIII deficiency
Definition	Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene.
Disease Hierarchy	DISZM9BG: Combined deficiency of factor V and factor VIII DIS1DL2M: Inherited blood coagulation disorder DIS1K6SD: Factor V and factor VIII, combined deficiency of, type 1
Disease Identifiers	MONDO ID MONDO_0009206 MESH ID C565577 UMLS CUI C4551981 OMIM ID 227300 MedGen ID 1637212

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MCFD2	OTM0XU0U	Strong	Genetic Variation	[1]
LMAN1	OTYHKDEO	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.