ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

COMMON GENES: 1

1 OMIM reference -
2 associated genes
8 signs/symptoms

Autosomal dominant optic atrophy and cataract

3-methylglutaconic aciduria type 3

OPA3	(UniProt - OMIM)		OPA3	(UniProt - OMIM)
			ZFP90	(UniProt - OMIM)

Citations in the biomedical literature:

Autosomal dominant optic atrophy and cataract		3-methylglutaconic aciduria type 3
	Synonym(s): - Autosomal dominant optic atrophy type 3 - OPA3, autosomal dominant		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 (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Diseases of the eye and adnexa -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal dominant		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: C537128		External references: 1 OMIM reference - 1 MeSH reference: C535311

3-methylglutaconic aciduria type 3
	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
Autosomal dominant optic atrophy and cataract
(no data available)