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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
2 associated genes
10 signs/symptoms
Hereditary motor and sensory neuropathy type 6
Autosomal dominant optic atrophy plus syndrome

MFN2 MFN2
OPA1


COMMON
GENES
MFN2



Citations in the biomedical literature:


Hereditary motor and sensory neuropathy type 6
MFN2
Autosomal dominant optic atrophy plus syndrome
OPA1



Hereditary motor and sensory neuropathy type 6
Autosomal dominant optic atrophy plus syndrome

Synonym(s):
- CMT6
- Charcot-Marie-Tooth disease type 6
- Peripheral neuropathy and optic atrophy

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

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the ear and mastoid process -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
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


Hereditary motor and sensory neuropathy type 6

(no data available)