ODCs

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1 OMIM reference -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

3-methylglutaconic aciduria type 3

Hereditary cerebral hemorrhage with amyloidosis, Italian type

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	OPA3	(0.56)	APP

Citations in the biomedical literature:

3-methylglutaconic aciduria type 3		Hereditary cerebral hemorrhage with amyloidosis, Italian 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		Synonym(s): - HCHWA, Italian type

	Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: C535311		External references: 1 OMIM reference - No MeSH references

3-methylglutaconic aciduria type 3		Hereditary cerebral hemorrhage with amyloidosis, Italian type
	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		Very frequent - Autosomal dominant inheritance - Facial pain / cephalalgia / migraine - Intracranial / cerebral / meningeal hemorrhage - Transient cerebral ischemia / stroke Frequent - Obnubilation / coma / lethargia / desorientation - Psychic / psychomotor regression / dementia / intellectual decline - Seizures / epilepsy / absences / spasms / status epilepticus