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3-methylglutaconic aciduria type 5 - Clinical Profile, Genes & Research | Kisho | Kisho
Rare Disease
3-methylglutaconic aciduria type 5
MONDO:0012435
Also known as:3-methylglutaconic aciduria caused by mutation in DNAJC193-methylglutaconic aciduria type VDCMA
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.
Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.
Features include always present findings: Failure to thrive, Postnatal growth retardation, 3-Methylglutaric aciduria, and 3-Methylglutaconic aciduria; and very common findings: Cryptorchidism. 25 total HPO annotations.
Muscle weakness, Damage to the optic nerve (optic atrophy)
Blood and immune system
1
Normochromic microcytic anemia
Eyes
1
Damage to the optic nerve (optic atrophy)
Digestive system
1
Microvesicular hepatic steatosis
Explore clinical features
Genetic Landscape
Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.
DNAJC19 encodes DnaJ heat shock protein family (Hsp40) member C19 (116 aa). Mitochondrial co-chaperone which forms a complex with prohibitins to regulate cardiolipin remodeling. Highest expression in Artery Tibial (46.4 TPM) and Adrenal Gland (46.0 TPM).
3-methylglutaconic aciduria type 5 is caused by mutations in the DNAJC19 gene on chromosome 3.
DNAJC19 is classified as a druggable target with score 0.0.
Diagnosis
Genetic testing for DNAJC19 is available. Testing is considered confirmatory for diagnosis.
Prognosis
Phenotype severity distribution: 4 always present features, 1 very common feature, 9 common features.
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
3 publications have been identified in PubMed for 3-methylglutaconic aciduria type 5. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).
Recent Publications
King MA (2025). [PMID: 40033659](https://pubmed.ncbi.nlm.nih.gov/40033659/). *J Inherit Metab Dis*. [Basic Science / Preclinical]
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.
