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2 OMIM references -
3 associated genes
No signs/symptoms info
COMMON GENES: 1
2 OMIM references -
10 associated genes
No signs/symptoms info
Familial infantile bilateral striatal necrosis
Leber hereditary optic neuropathy

ADAR MT-ATP6
MT-ATP6 MT-CO1
NUP62 MT-CO3
MT-CYB
MT-ND1
MT-ND2
MT-ND4
MT-ND4L
MT-ND5
MT-ND6


COMMON
GENES
MT-ATP6



Citations in the biomedical literature:


Familial infantile bilateral striatal necrosis
ADAR MT-ATP6 NUP62
Leber hereditary optic neuropathy
MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2
MT-ND4 MT-ND4L MT-ND5 MT-ND6



Familial infantile bilateral striatal necrosis
Leber hereditary optic neuropathy

Synonym(s):
- Familial IBSN
- Familial infantile striatonigral degeneration
- Familial infantile striatonigral necrosis

Synonym(s):
- LHON
- Leber optic atrophy

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: mitochondrial inheritance

External references:
2 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references

No signs/symptoms info available.