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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 6
14 OMIM references -
13 associated genes
No signs/symptoms info
Autosomal dominant optic atrophy plus syndrome
Young adult-onset Parkinsonism

MFN2 EIF4G1
OPA1 GBA
GIGYF2
HTRA2
LRRK2
NR4A2
PACRG
PARK2
PARK7
PINK1
SNCA
UCHL1
VPS35


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MFN2
MFN2
OPA1
OPA1
OPA1
OPA1
(0.74)
(0.65)
(0.65)
(0.63)
(0.49)
(0.49)
PARK2
LRRK2
LRRK2
PARK2
HTRA2
NR4A2



Citations in the biomedical literature:


Autosomal dominant optic atrophy plus syndrome
MFN2 OPA1
Young adult-onset Parkinsonism
EIF4G1 GBA GIGYF2 HTRA2 LRRK2 NR4A2
PACRG PARK2 PARK7 PINK1 SNCA UCHL1
VPS35



Autosomal dominant optic atrophy plus syndrome
Young adult-onset Parkinsonism

Synonym(s):
- DOA+
- Optic atrophy - deafness- polyneuropathy - myopathy

Synonym(s):
- Early-onset Parkinson disease
- Familial Parkinson disease
- Hereditary Parkinson disease
- Young-onset Parkinson disease

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

Classification (ICD10):
- Diseases of the ear and mastoid process -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant

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

Autosomal dominant optic atrophy plus syndrome

Very frequent
- Autosomal dominant inheritance
- Insensitivity to pain
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Sensorineural deafness / hearing loss

Frequent
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision
- Areflexia / hyporeflexia
- Mild visual loss / impaired visual acuity

Occasional
- Abnormal VEP / Visual evoked potential
- Nerve conduction abnormality
- Strabismus / squint


Young adult-onset Parkinsonism

(no data available)