Details of Disease | DrugMAP

General Information of Disease (ID: DISRB3E6)

Disease Name	Maple syrup urine disease type 2
Synonyms	MSUD type 2; MSUD2; maple syrup urine disease type 2
Definition	A maple syrup urine disease caused by mutations in DBT.
Disease Hierarchy	DIS61XRH: Maple syrup urine disease DISRB3E6: Maple syrup urine disease type 2
Disease Identifiers	MONDO ID MONDO_0023693 MESH ID C535712 UMLS CUI C1855371 MedGen ID 343337

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
DBT	OT4KZ5R9	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.