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Maternally-inherited Leigh syndrome
2 OMIM references -
14 associated genes
73 connected diseases
No signs/symptoms info
Disease Type of connection
MELAS syndrome
Leber hereditary optic neuropathy
Isolated cytochrome C oxidase deficiency
Leber 'plus' disease
Sporadic Leigh syndrome
MERRF syndrome
Genetic recurrent myoglobinuria
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Isolated NADH-CoQ reductase deficiency
Mitochondrial nonsyndromic sensorineural deafness
Familial infantile bilateral striatal necrosis
Maternally-inherited spastic paraplegia
NARP syndrome
LIG4 syndrome
Omenn syndrome
Leigh syndrome with leukodystrophy
Familial pancreatic carcinoma
Young adult-onset Parkinsonism
Huntington disease
Juvenile Huntington disease
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
Citrullinemia type II
Neonatal intrahepatic cholestasis due to citrin deficiency
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Autosomal dominant nonsyndromic intellectual deficit
Fibronectin glomerulopathy
17p13.3 microduplication syndrome
APC-related attenuated familial adenomatous polyposis
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Boomerang dysplasia
Congenital brain dysgenesis due to glutamine synthetase deficiency
Cornelia de Lange syndrome
Desmoid tumor
Distal 17p13.3 microdeletion syndrome
Early infantile epileptic encephalopathy
Estrogen resistance syndrome
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
Miller-Dieker syndrome
Primary peritoneal carcinoma
Retinitis pigmentosa
Spondylocarpotarsal synostosis
Turcot syndrome with polyposis
Acyl-CoA dehydrogenase 9 deficiency
Leigh syndrome with cardiomyopathy
Autosomal dominant spastic paraplegia type 13
Giant cell glioblastoma
Gliosarcoma
Pelizaeus-Merzbacher-like due to HSPD1 mutation
CADDS
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Synonym(s):
- MILS
- Maternally-inherited Leigh disease
- Maternally-inherited infantile subacute necrotizing encephalopathy
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: mitochondrial inheritance
External references:
2 OMIM references -
No MeSH references
No signs/symptoms info available.