Cytoscape Web
Click node...


1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant optic atrophy plus syndrome
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

MFN2 LMNA
OPA1


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
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
LMNA



Autosomal dominant optic atrophy plus syndrome
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

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

Classification (ICD10):
- Diseases of the ear and mastoid process -
Classification (ICD10):
(no data available)

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: -
Average age of death: -
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


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

(no data available)