Deafness, aminoglycoside-induced

Preferred Label : Deafness, aminoglycoside-induced;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Deafness, streptomycin-induced; Streptomycin ototoxicity;

Description : The mechanism of ototoxicity of aminoglycosides is thought to be interference with the production of ATP in the mitochondria of hair cells in the cochlea (Akiyoshoi et al., 1976). The aminoglycosides include kanamycin, gentamicin, tobramycin, and neomycin in addition to streptomycin.;

Inheritance : Mitochondrial;

Molecular basis : Caused by mutation in the mitochondrial 12S rRNA gene (MTRNR1, 561000.0001); Caused by mutation in the mitochondrial cytochrome c oxidase I gene (MTCO1, 516030.0001); Caused by mutation in the mitochondrial tRNA-ser 1 gene (MTTS1, 590080.0002);

Prefixed ID : #580000;

Details

Origin ID

580000;

UMLS CUI

C1838854;

Automatic exact mappings (from CISMeF team)
- aminoglycoside-induced deafness [DO Concept]
Currated CISMeF NLP mapping
- Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure [ORDO Disease]
- deafness, Aminoglycoside-Induced [MeSH concept]
- deafness, Aminoglycoside-Induced [MeSH Supplementary Concept]
DO Cross reference
- aminoglycoside-induced deafness [DO Concept]
Genes related to phenotype
- Trna 5-methylaminomethyl-2-thiouridylate methyltransferase [OMIM gene]
HPO term(s)
- Aminoglycoside-induced hearing loss [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Mitochondrial inheritance [HPO term]
ORDO concept(s)
- Mitochondrial non-syndromic sensorineural deafness [ORDO Disease]
- Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure [ORDO Disease]
- deafness, Aminoglycoside-Induced [MeSH Supplementary Concept]
- deafness, Aminoglycoside-Induced [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients