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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
8 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
3-methylglutaconic aciduria type 3

APP OPA3
ZFP90


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP
3-methylglutaconic aciduria type 3
OPA3 ZFP90



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

Synonym(s):
- HCHWA, Flemish 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):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease

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

Epidemiological data:
(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

External references:
1 OMIM reference -
No MeSH references
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


Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)