Details of Disease

General Information of Disease (ID: DISOGOR1)

Disease Name Inborn disorder of branched-chain amino acid metabolism
Synonyms
branched chain amino acid metabolism disorder; disorder of branched chain amino acid metabolism; rare inborn error of branched-chain amino acid metabolic process; inborn disorder of branched-chain amino acid metabolism; inborn branched-chain amino acid metabolic process disorder; inborn error of branched-chain amino acid metabolic process; disorder of branched-chain amino acid metabolism
Definition An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.|Editor note: consider parent for non-inborn form
Disease Hierarchy
DISFWXCM: Inborn disorder of amino acid metabolism
DISO5FAY: Inborn error of metabolism
DISTVTFI: Disorder of organic acid metabolism
DISWE0E0: Inborn disorder of amino acid and other organic acid metabolism
DISOGOR1: Inborn disorder of branched-chain amino acid metabolism
Disease Identifiers
MONDO ID
MONDO_0019242
UMLS CUI
C0342712
MedGen ID
87452
Orphanet ID
79197
SNOMED CT ID
116020001

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 Strong Genetic Variation [1]
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References

1 Mutation of zebrafish dihydrolipoamide branched-chain transacylase E2 results in motor dysfunction and models maple syrup urine disease.Dis Model Mech. 2012 Mar;5(2):248-58. doi: 10.1242/dmm.008383. Epub 2011 Nov 1.