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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
6 associated genes
No signs/symptoms info
Autosomal dominant optic atrophy plus syndrome
Behavioral variant of frontotemporal dementia

MFN2 C9ORF72
OPA1 CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MFN2
(0.63)
VCP



Citations in the biomedical literature:


Autosomal dominant optic atrophy plus syndrome
MFN2 OPA1
Behavioral variant of frontotemporal dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP



Autosomal dominant optic atrophy plus syndrome
Behavioral variant of frontotemporal dementia

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

Synonym(s):
- bv-FTD

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: unknown
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant

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


Behavioral variant of frontotemporal dementia

(no data available)