DFNI
MCID: DFN350
MIFTS: 31

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 deafness, nonsyndromic sensorineural, mitochondrial and cloacal exstrophy. 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:

(show all 47)
# Title Authors Year
1
The prevalence of mitochondrial mutations associated with aminoglycoside-induced deafness in ethnic Latvian population: the appraisal of the evidence. ( 30523288 )
2019
2
Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation. ( 28049726 )
2017
3
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. ( 24651602 )
2014
4
A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness. ( 19144107 )
2009
5
Co-segregation of the T1095C with the A1555G mutation of the mitochondrial 12S rRNA gene in a patient with non-syndromic hearing loss. ( 18983818 )
2008
6
A mutation in mitochondrial 12S rRNA, A827G, in Argentinean family with hearing loss after aminoglycoside treatment. ( 18261986 )
2008
7
Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss. ( 17659260 )
2007
8
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. ( 17341440 )
2007
9
Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation. ( 16380089 )
2006
10
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. ( 16826519 )
2006
11
Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family. ( 16650816 )
2006
12
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment. ( 16458854 )
2006
13
A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. ( 16528519 )
2006
14
Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity. ( 16782057 )
2006
15
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness. ( 16375862 )
2006
16
Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene. ( 16631122 )
2006
17
Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss. ( 16152638 )
2005
18
Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation. ( 15637703 )
2005
19
Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. ( 15708009 )
2005
20
Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. ( 14681830 )
2004
21
Audiovestibular findings in patients with mitochondrial A1555G mutation. ( 14755216 )
2004
22
Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation. ( 15555598 )
2004
23
Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation. ( 12939650 )
2003
24
Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. ( 12655418 )
2003
25
Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia. ( 12955586 )
2003
26
Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family. ( 12624722 )
2003
27
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. ( 12920080 )
2003
28
The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs. ( 12372057 )
2002
29
Maternally inherited deafness associated with a T1095C mutation in the mDNA. ( 11313749 )
2001
30
Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. ( 11388757 )
2001
31
Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies. ( 10661905 )
2000
32
Candidate locus for a nuclear modifier gene for maternally inherited deafness. ( 10788333 )
2000
33
A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. ( 11079536 )
2000
34
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. ( 10915767 )
2000
35
Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications. ( 10326749 )
1999
36
Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. ( 10577941 )
1999
37
Mitochondrial deafness mutations reviewed. ( 10220138 )
1999
38
Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. ( 9915970 )
1999
39
The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness. ( 10521300 )
1999
40
Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation. ( 9887373 )
1998
41
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. ( 9490575 )
1998
42
Hearing loss due to the mitochondrial A1555G mutation in Italian families. ( 9779807 )
1998
43
Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. ( 9039999 )
1997
44
Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder. ( 9391883 )
1997
45
Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. ( 8817331 )
1996
46
Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. ( 7550368 )
1995
47
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. ( 7689389 )
1993

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; MT-TS1 m.1494C> T single nucleotide variant drug response rs267606619 GRCh37 Chromosome MT, 1494: 1494
10 MT-RNR1; MT-TS1 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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