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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
16 OMIM references -
26 associated genes
No signs/symptoms info
Autosomal dominant optic atrophy plus syndrome
Amyotrophic lateral sclerosis

MFN2 ANG
OPA1 ATXN2
C9ORF72
CHMP2B
DAO
DCTN1
DPYSL3
ERBB4
FIG4
FUS
HNRNPA1
NEFH
OPTN
PFN1
PON1
PON2
PON3
PPARGC1A
PRPH
SOD1
SQSTM1
TAF15
TARDBP
UBQLN2
VAPB
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
Amyotrophic lateral sclerosis
ANG ATXN2 C9ORF72 CHMP2B DAO DCTN1
DPYSL3 ERBB4 FIG4 FUS HNRNPA1 NEFH
OPTN PFN1 PON1 PON2 PON3 PPARGC1A
PRPH SOD1 SQSTM1 TAF15 TARDBP UBQLN2
VAPB VCP



Autosomal dominant optic atrophy plus syndrome
Amyotrophic lateral sclerosis

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

Synonym(s):
- ALS
- Charcot disease
- Lou Gehrig disease

Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- 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: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
16 OMIM references -
1 MeSH reference: D000690

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


Amyotrophic lateral sclerosis

(no data available)