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1 OMIM reference -
2 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
3-methylglutaconic aciduria type 3
Hereditary cerebral hemorrhage with amyloidosis, Iowa type

OPA3 APP
ZFP90


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
OPA3 ZFP90
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
APP



3-methylglutaconic aciduria type 3
Hereditary cerebral hemorrhage with amyloidosis, Iowa 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, Iowa 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


COMMON
SIGNS
- Abnormal gait


3-methylglutaconic aciduria type 3
Hereditary cerebral hemorrhage with amyloidosis, Iowa 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



Very frequent
- Autosomal dominant inheritance
- Cerebral vascular anomalies
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Intracranial / cerebral / meningeal hemorrhage
- Myoclonus / fasciculations
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Transient cerebral ischemia / stroke
- Troubles of memory / amnesia / hypermnesia