Details of Disease

General Information of Disease (ID: DISEP4OP)

Disease Name 3-methylglutaconic aciduria type 5
Synonyms
3-METHYLGLUTACONIC aciduria, type V; 3 methylglutaconic aciduria type V; MGA V; 3-Methylglutaconic aciduria, type 5; Mga, type 5; cardiomyopathy, dilated, with ataxia; 3 alpha methylglutaconic aciduria type V; MGA 5; DCMA; MGA5; 3-methylglutaconic aciduria caused by mutation in DNAJC19; DCMA syndrome; DNAJC19 3-methylglutaconic aciduria; 3-methylglutaconic aciduria type V; 3-methylglutaconic aciduria type 5; dilated cardiomyopathy with ataxia; MGCA5
Definition
A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.
Disease Hierarchy
DIS8G1WP: 3-methylglutaconic aciduria
DISEP4OP: 3-methylglutaconic aciduria type 5
Disease Identifiers
MONDO ID
MONDO_0012435
MESH ID
C565706
UMLS CUI
C1857776
OMIM ID
610198
MedGen ID
347542
Orphanet ID
66634
SNOMED CT ID
711412004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SERAC1 OTWH1ULQ Strong Biomarker [1]
DNAJC19 OTLA1V91 Definitive Autosomal recessive [2]
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References

1 Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.J Inherit Metab Dis. 2013 Nov;36(6):923-8. doi: 10.1007/s10545-012-9580-0. Epub 2013 Jan 8.
2 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.