Details of Disease

General Information of Disease (ID: DISGPKK3)

Disease Name Maple syrup urine disease type 1B
Synonyms MSUD type IB; MSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex; MSUD type 3 (formerly); maple syrup urine disease type 1B
Definition A maple syrup urine disease caused by mutations in BCKDHB.
Disease Hierarchy
DIS61XRH: Maple syrup urine disease
DISGPKK3: Maple syrup urine disease type 1B
Disease Identifiers
MONDO ID
MONDO_0023692
MESH ID
C535711
UMLS CUI
C2930990
MedGen ID
443951

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
BCKDHB OT8OSVYU 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.