DFNI
MCID: DFN350
MIFTS: 27

Deafness, Aminoglycoside-Induced (DFNI)

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Aminoglycoside-Induced

MalaCards integrated aliases for Deafness, Aminoglycoside-Induced:

Name: Deafness, Aminoglycoside-Induced 58 76 41 74
Deafness, Mitochondrial, Modifier of 58 13 6
Aminoglycoside-Induced Deafness 30 6
Deafness, Streptomycin-Induced 58 76
Streptomycin Ototoxicity 58 76
Mitochondrial Non-Syndromic Sensorineural Hearing Loss with Susceptibility to Aminoglycoside Exposure 60
Mitochondrial Non-Syndromic Neurosensory Hearing Loss with Susceptibility to Aminoglycoside Exposure 60
Mitochondrial Non-Syndromic Sensorineural Deafness with Susceptibility to Aminoglycoside Exposure 60
Mitochondrial Isolated Sensorineural Hearing Loss with Susceptibility to Aminoglycoside Exposure 60
Mitochondrial Non-Syndromic Neurosensory Deafness with Susceptibility to Aminoglycoside Exposure 60
Mitochondrial Isolated Neurosensory Hearing Loss with Susceptibility to Aminoglycoside Exposure 60
Mitochondrial Isolated Sensorineural Deafness with Susceptibility to Aminoglycoside Exposure 60
Mitochondrial Isolated Neurosensory Deafness with Susceptibility to Aminoglycoside Exposure 60
Dfni 76

Characteristics:

Orphanet epidemiological data:

60
mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Inheritance: Mitochondrial inheritance; Age of onset: All ages;

OMIM:

58
Inheritance:
mitochondrial


HPO:

33
deafness, aminoglycoside-induced:
Inheritance mitochondrial inheritance


Classifications:



External Ids:

OMIM 58 580000
MeSH 45 D006319
Orphanet 60 ORPHA168609
MedGen 43 C1838854
UMLS 74 C1838854

Summaries for Deafness, Aminoglycoside-Induced

OMIM : 58 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 : 76 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.

Related Diseases for Deafness, Aminoglycoside-Induced

Graphical network of the top 20 diseases related to Deafness, Aminoglycoside-Induced:



Diseases related to Deafness, Aminoglycoside-Induced

Symptoms & Phenotypes for Deafness, Aminoglycoside-Induced

Human phenotypes related to Deafness, Aminoglycoside-Induced:

33
# Description HPO Frequency HPO Source Accession
1 aminoglycoside-induced hearing loss 33 HP:0011975

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
hearing loss, aminoglycoside-induced

Metabolic Features:
streptomycin ototoxicity

Clinical features from OMIM:

580000

Drugs & Therapeutics for Deafness, Aminoglycoside-Induced

Search Clinical Trials , NIH Clinical Center for Deafness, Aminoglycoside-Induced

Genetic Tests for Deafness, Aminoglycoside-Induced

Genetic tests related to Deafness, Aminoglycoside-Induced:

# Genetic test Affiliating Genes
1 Aminoglycoside-Induced Deafness 30 MT-TS1 TRMU

Anatomical Context for Deafness, Aminoglycoside-Induced

Publications for Deafness, Aminoglycoside-Induced

Articles related to Deafness, Aminoglycoside-Induced:

# Title Authors Year
1
A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness. ( 19144107 )
2009
2
Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies. ( 10661905 )
2000

Variations for Deafness, Aminoglycoside-Induced

ClinVar genetic disease variations for Deafness, Aminoglycoside-Induced:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRMU NM_018006.4(TRMU): c.28G> T (p.Ala10Ser) single nucleotide variant Benign rs11090865 GRCh37 Chromosome 22, 46731689: 46731689
2 TRMU NM_018006.4(TRMU): c.28G> T (p.Ala10Ser) single nucleotide variant Benign rs11090865 GRCh38 Chromosome 22, 46335792: 46335792
3 MT-CO1; MT-RNR1 m.1555A> G single nucleotide variant drug response rs267606617 GRCh37 Chromosome MT, 1555: 1555
4 MT-CO1; MT-RNR1 m.1555A> G single nucleotide variant drug response rs267606617 GRCh38 Chromosome MT, 1555: 1555
5 MT-RNR1 m.961delTinsC(2_7) indel Pathogenic rs1556422499 GRCh37 Chromosome MT, 961: 961
6 MT-RNR1 m.961delTinsC(2_7) indel Pathogenic rs1556422499 GRCh38 Chromosome MT, 961: 961
7 MT-RNR1 m.1095T> C single nucleotide variant drug response rs267606618 GRCh37 Chromosome MT, 1095: 1095
8 MT-RNR1 m.1095T> C single nucleotide variant drug response rs267606618 GRCh38 Chromosome MT, 1095: 1095
9 MT-RNR1 m.1494C> T single nucleotide variant drug response rs267606619 GRCh37 Chromosome MT, 1494: 1494
10 MT-RNR1 m.1494C> T single nucleotide variant drug response rs267606619 GRCh38 Chromosome MT, 1494: 1494
11 MT-RNR1 m.827A> G single nucleotide variant drug response rs28358569 GRCh37 Chromosome MT, 827: 827
12 MT-RNR1 m.827A> G single nucleotide variant drug response rs28358569 GRCh38 Chromosome MT, 827: 827
13 MT-CO1; MT-TS1 m.7444G> A single nucleotide variant Pathogenic rs199474822 GRCh37 Chromosome MT, 7444: 7444
14 MT-CO1; MT-TS1 m.7444G> A single nucleotide variant Pathogenic rs199474822 GRCh38 Chromosome MT, 7444: 7444

Expression for Deafness, Aminoglycoside-Induced

Search GEO for disease gene expression data for Deafness, Aminoglycoside-Induced.

Pathways for Deafness, Aminoglycoside-Induced

GO Terms for Deafness, Aminoglycoside-Induced

Cellular components related to Deafness, Aminoglycoside-Induced according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 respiratory chain GO:0070469 8.62 MT-CO1 MT-ND4

Biological processes related to Deafness, Aminoglycoside-Induced according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.26 MT-CO1 MT-ND4
2 cerebellum development GO:0021549 9.16 MT-CO1 MT-ND4
3 aerobic respiration GO:0009060 8.96 MT-CO1 MT-ND4
4 electron transport coupled proton transport GO:0015990 8.62 MT-CO1 MT-ND4

Sources for Deafness, Aminoglycoside-Induced

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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