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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Autosomal dominant optic atrophy plus syndrome
Dilated cardiomyopathy - hypergonadotropic hypogonadism

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
Dilated cardiomyopathy - hypergonadotropic hypogonadism
LMNA



Autosomal dominant optic atrophy plus syndrome
Dilated cardiomyopathy - hypergonadotropic hypogonadism

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

Synonym(s):
- Cardiogenital syndrome
- Malouf syndrome
- Najjar syndrome

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

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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Autosomal dominant optic atrophy plus syndrome
Dilated cardiomyopathy - hypergonadotropic hypogonadism

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


Very frequent
- Abnormal / polycystic ovaries
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Cardiomyopathy / hypertrophic / dilated
- Decreased body hair / axillar / pubic hairlessness
- Late puberty / hypogonadism / hypogenitalism
- Precocious puberty
- Ptosis