Details of Disease | DrugMAP

General Information of Disease (ID: DIS0P5DC)

Disease Name	Maple syrup urine disease type 1A
Synonyms	MSUD type 1A; maple syrup urine disease, type IA; maple syrup urine disease type 1A
Definition	A maple syrup urine disease caused by mutations in BCKDHA.
Disease Hierarchy	DIS61XRH: Maple syrup urine disease DIS0P5DC: Maple syrup urine disease type 1A
Disease Identifiers	MONDO ID MONDO_0023691 MESH ID C535710 UMLS CUI C2930989 MedGen ID 443950

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
BCKDHA	OT0LHOZB	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.