3-methylglutaconic aciduria type 3
Findings
No curated finding names 3-methylglutaconic aciduria type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterized by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.
Definition from the Mondo Disease Ontology (MONDO:0009787), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
13 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
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- 3-Methylglutaric aciduriaHPOHP:0003344
- 10 of 10 reported patients
- Optic atrophyHPOHP:0000648
- 10 of 10 reported patients
- ChoreoathetosisHPOHP:0001266
- Very frequent (80% to 99% of cases)
- Visual impairmentHPOHP:0000505
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
Show the remaining 1
- SpasticityHPOHP:0001257
Genes
2 genes
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.
- OPA3HGNC:8142
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- MICOS13HGNC:33702
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
8 names
Resolves to: 3-methylglutaconic aciduria type 3
- Also called
- 3-methylglutaconic aciduria caused by mutation in OPA3autosomal recessive optic atrophy plus syndromeautosomal recessive optic atrophy type 3Costeff optic atrophy syndromeCosteff syndromeinfantile optic atrophy with chorea and spastic paraplegiaMGA3OPA3 3-methylglutaconic aciduria