DFNI
MCID: DFN350
MIFTS: 27
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Deafness, Aminoglycoside-Induced (DFNI)
Categories:
Ear diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Deafness, Aminoglycoside-Induced:
Characteristics:Orphanet epidemiological data:59
mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Inheritance: Mitochondrial inheritance; Age of onset: All ages; HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Ear diseases Neuronal diseases |
OMIM
:
57
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. (580000)
MalaCards based summary : Deafness, Aminoglycoside-Induced, also known as deafness, mitochondrial, modifier of, is related to cloacal exstrophy and myelocystocele. An important gene associated with Deafness, Aminoglycoside-Induced is TRMU (TRNA 5-Methylaminomethyl-2-Thiouridylate Methyltransferase). Related phenotype is aminoglycoside-induced hearing loss. UniProtKB/Swiss-Prot : 75 Deafness, aminoglycoside-induced: A form of sensorineural deafness characterized by moderate-to-profound hearing loss and mitochondrial inheritance. It is induced by exposure to aminoglycosides. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:580000Human phenotypes related to Deafness, Aminoglycoside-Induced:32
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Articles related to Deafness, Aminoglycoside-Induced:
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ClinVar genetic disease variations for Deafness, Aminoglycoside-Induced:6 (show all 14)
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Search
GEO
for disease gene expression data for Deafness, Aminoglycoside-Induced.
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Cellular components related to Deafness, Aminoglycoside-Induced according to GeneCards Suite gene sharing:
Biological processes related to Deafness, Aminoglycoside-Induced according to GeneCards Suite gene sharing:
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