3-methylglutaconic aciduria type 5
Findings
No curated finding names 3-methylglutaconic aciduria type 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0012435), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
46 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- 3-Methylglutaconic aciduriaHPOHP:0003535
- 18 of 18 reported patients
- Very frequent (80% to 99% of cases)
- 3-Methylglutaric aciduriaHPOHP:0003344
- 18 of 18 reported patients
- Failure to thriveHPOHP:0001508
- 18 of 18 reported patients
- Postnatal growth retardationHPOHP:0008897
- 18 of 18 reported patients
- CryptorchidismHPOHP:0000028
- 9 of 11 reported patients
- AtaxiaHPOHP:0001251
- 10 of 18 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 34
- Hypochromic microcytic anemiaHPOHP:0004840
- Frequent (30% to 79% of cases)
- Increased circulating lactate concentrationHPOHP:0002151
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- 8 of 18 reported patients
- Frequent (30% to 79% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Frequent (30% to 79% of cases)
- Prolonged QT intervalHPOHP:0001657
- 6 of 18 reported patients
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DNAJC19HGNC:30528
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
8 names
Resolves to: 3-methylglutaconic aciduria type 5
- Also called
- 3-methylglutaconic aciduria caused by mutation in DNAJC193-methylglutaconic aciduria type VDCMADCMA syndromedilated cardiomyopathy with ataxiaDNAJC19 3-methylglutaconic aciduriaMGA5MGCA5