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Leber hereditary optic neuropathy
2 OMIM references -
10 associated genes
54 connected diseases
No signs/symptoms info
Disease Type of connection
Maternally-inherited Leigh syndrome
MELAS syndrome
Isolated cytochrome C oxidase deficiency
Genetic recurrent myoglobinuria
Leber 'plus' disease
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Sporadic Leigh syndrome
Isolated NADH-CoQ reductase deficiency
Isolated CoQ-cytochrome C reductase deficiency
Familial infantile bilateral striatal necrosis
Histiocytoid cardiomyopathy
MERRF syndrome
Maternally-inherited spastic paraplegia
Mitochondrial nonsyndromic sensorineural deafness
NARP syndrome
LIG4 syndrome
Omenn syndrome
Leigh syndrome with leukodystrophy
Familial pancreatic carcinoma
Young adult-onset Parkinsonism
Distal myopathy with posterior leg and anterior hand involvement
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary breast and ovarian cancer syndrome
Hereditary hemorrhagic telangiectasia
Muscle filaminopathy
Myhre syndrome
Parkinsonian-pyramidal syndrome
Autosomal dominant nonsyndromic intellectual deficit
Huntington disease
Juvenile Huntington disease
APC-related attenuated familial adenomatous polyposis
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Chronic mucocutaneous candidiasis
Congenital brain dysgenesis due to glutamine synthetase deficiency
Desmoid tumor
Early infantile epileptic encephalopathy
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial prostate cancer
Fanconi anemia
Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
Gardner syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Primary peritoneal carcinoma
Retinitis pigmentosa
Susceptibility to viral and mycobacterial infections
Turcot syndrome with polyposis
Acyl-CoA dehydrogenase 9 deficiency
Citrullinemia type II
Neonatal intrahepatic cholestasis due to citrin deficiency
Autosomal dominant spastic paraplegia type 13
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Synonym(s):
- LHON
- Leber optic atrophy
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
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
No signs/symptoms info available.