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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
4 OMIM references -
4 associated genes
No signs/symptoms info
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant Emery-Dreifuss muscular dystrophy

MFN2 LMNA
OPA1 SYNE1
SYNE2
TMEM43


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
OPA1
(0.63)
LMNA



Citations in the biomedical literature:


Autosomal dominant optic atrophy plus syndrome
MFN2 OPA1
Autosomal dominant Emery-Dreifuss muscular dystrophy
LMNA SYNE1 SYNE2 TMEM43



Autosomal dominant optic atrophy plus syndrome
Autosomal dominant Emery-Dreifuss muscular dystrophy

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- 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:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
4 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


Autosomal dominant Emery-Dreifuss muscular dystrophy

(no data available)