IEMbase 0060: OPA3-related Costeff syndrome / MGA3
Scope
| Field | Value |
|---|---|
| IEMbase ID | 60 |
| Nosology | 19.2.02.01 |
| Gene | OPA3 |
| External IDs | OMIM:258501 |
| Generated mapping | UNMAPPED; best fuzzy candidate Glutaryl-CoA_Dehydrogenase_Deficiency.yaml |
| Candidate DisMech targets | No valid local target found |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as OPA3-related methylglutaconic aciduria type 3, also called Costeff syndrome or MGA3. Inheritance is listed as autosomal dominant and autosomal recessive, treatability is marked unknown, and prevalence is listed as 1:10,000 in the Iraqi-Jewish population.
The biochemical signal is increased or normal-high urinary 3-methylglutaconic acid and increased urinary 3-methylglutaric acid. The characteristic clinical signal is ocular and movement-disorder centered: ataxia, chorea, extrapyramidal movement disorder, complex or paroxysmal movement disorder, nystagmus, optic atrophy, and visual impairment. Additional features include cataract, centrocecal scotoma, cerebellar or cerebral atrophy, developmental delay, glaucoma, hearing loss, mild intellectual disability, neurological regression, neuropathy, spasticity, and white-matter lesions. No treatment rows are present in the cached record.
DisMech phenotype coverage
No valid local DisMech target was found. The fuzzy candidate
Glutaryl-CoA_Dehydrogenase_Deficiency.yaml is a false neighbor. GA1/GCDH is a
lysine/hydroxylysine/tryptophan catabolic disorder with glutaric acid,
3-hydroxyglutaric acid, C5DC, and striatal crises, not an OPA3 optic-atrophy
and 3-methylglutaconic aciduria syndrome.
Other local entries with methylglutaconic aciduria signal, such as Barth syndrome, HMGCLD, and HSD10 mitochondrial disease, are mechanistically distinct and do not cover OPA3/Costeff syndrome.
Concordance and completeness
Judgement: true local gap; do not map to GA1/GCDH.
IEMbase provides a compact but clear seed profile for future OPA3/MGA3 curation, especially the optic atrophy, visual impairment, nystagmus, movement disorder, ataxia, spasticity, neuropathy, hearing loss, cataract/glaucoma, and 3-methylglutaconic/3-methylglutaric acid signal.
Curation actions
- Keep this record unmapped until a standalone OPA3-related Costeff syndrome or methylglutaconic aciduria type 3 entry exists.
- Mark
Glutaryl-CoA_Dehydrogenase_Deficiency.yamlas a false-positive fuzzy candidate for this record. - Consider OPA3/Costeff syndrome as a future mitochondrial/optic-atrophy curation target.