Details of Disease

General Information of Disease (ID: DISB39M5)

Disease Name 3-methylglutaconic aciduria type 9
Synonyms
3-METHYLGLUTACONIC aciduria, type IX; 3-Methylglutaconic aciduria, type 9; 3-methylglutaconic acuduria type IX; MGCA9; 3-methylglutaconic acuduria type IX, MGCA9; MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome
Disease Hierarchy
DIS8G1WP: 3-methylglutaconic aciduria
DISB39M5: 3-methylglutaconic aciduria type 9
Disease Identifiers
MONDO ID
MONDO_0044724
UMLS CUI
C4540171
OMIM ID
617698
MedGen ID
1622927
Orphanet ID
505216
SNOMED CT ID
1222672002

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
TIMM50 OTWJNUQL 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.