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3-methylglutaconic aciduria type 3
1 OMIM reference -
2 associated genes
8 connected diseases
8 signs/symptoms
Disease Type of connection
Autosomal dominant optic atrophy and cataract
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- Autosomal recessive optic atrophy type 3
- Costeff optic atrophy syndrome
- Costeff syndrome
- Infantile optic atrophy with chorea and spastic paraplegia
- MGA3
- Optic atrophy plus syndrome
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C535311
Gene symbol UniProt reference OMIM reference
OPA3 Q9H6K4606580
ZFP90 Q8TF47609451
Very frequent
- Mild visual loss / impaired visual acuity
- Movement disorder

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Nystagmus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Occasional
- Abnormal gait