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Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
1 OMIM reference -
5 associated genes
27 connected diseases
No signs/symptoms info
Disease Type of connection
Mitochondrial nonsyndromic sensorineural deafness
MELAS syndrome
Maternally-inherited Leigh syndrome
Leber hereditary optic neuropathy
Isolated cytochrome C oxidase deficiency
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Genetic recurrent myoglobinuria
Leber 'plus' disease
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
LIG4 syndrome
Omenn syndrome
Isolated NADH-CoQ reductase deficiency
APC-related attenuated familial adenomatous polyposis
Desmoid tumor
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial pancreatic carcinoma
Gardner syndrome
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Myhre syndrome
Turcot syndrome with polyposis
Leigh syndrome with leukodystrophy
Autosomal dominant spastic paraplegia type 13
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Parkinsonian-pyramidal syndrome
Young adult-onset Parkinsonism
Synonym(s):
- Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure
- Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure
- Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure
- Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure
- Mitochondrial nonsyndromic neurosensory deafness with susceptibility to aminoglycoside exposure
- Mitochondrial nonsyndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure
- Mitochondrial nonsyndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: mitochondrial inheritance
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MT-CO1 P00395516030
MT-ND4 P03905516003
MT-RNR1 561000
MT-TS1 590080
TRMU O75648610230
No signs/symptoms info available.