DFNI
MCID: DFN350
MIFTS: 33

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 57 74 40 72
Deafness, Mitochondrial, Modifier of 57 13 6
Aminoglycoside-Induced Deafness 29 6
Deafness, Streptomycin-Induced 57 74
Streptomycin Ototoxicity 57 74
Mitochondrial Non-Syndromic Sensorineural Hearing Loss with Susceptibility to Aminoglycoside Exposure 59
Mitochondrial Non-Syndromic Neurosensory Hearing Loss with Susceptibility to Aminoglycoside Exposure 59
Mitochondrial Non-Syndromic Sensorineural Deafness with Susceptibility to Aminoglycoside Exposure 59
Mitochondrial Isolated Sensorineural Hearing Loss with Susceptibility to Aminoglycoside Exposure 59
Mitochondrial Non-Syndromic Neurosensory Deafness with Susceptibility to Aminoglycoside Exposure 59
Mitochondrial Isolated Neurosensory Hearing Loss with Susceptibility to Aminoglycoside Exposure 59
Mitochondrial Isolated Sensorineural Deafness with Susceptibility to Aminoglycoside Exposure 59
Mitochondrial Isolated Neurosensory Deafness with Susceptibility to Aminoglycoside Exposure 59
Dfni 74

Characteristics:

Orphanet epidemiological data:

59
mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Inheritance: Mitochondrial inheritance; Age of onset: All ages;

OMIM:

57
Inheritance:
mitochondrial


HPO:

32
deafness, aminoglycoside-induced:
Inheritance mitochondrial inheritance


Classifications:



External Ids:

OMIM 57 580000
MeSH 44 D006319
Orphanet 59 ORPHA168609
MedGen 42 C1838854
UMLS 72 C1838854

Summaries for Deafness, Aminoglycoside-Induced

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 mitochondrial non-syndromic sensorineural deafness and deafness, nonsyndromic sensorineural, mitochondrial. An important gene associated with Deafness, Aminoglycoside-Induced is MT-RNR1 (Mitochondrially Encoded 12S RRNA). Affiliated tissues include bone, and related phenotype is aminoglycoside-induced hearing loss.

UniProtKB/Swiss-Prot : 74 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

Diseases related to Deafness, Aminoglycoside-Induced via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 mitochondrial non-syndromic sensorineural deafness 28.2 TRMU MT-TS1 MT-RNR1 MT-CO1
2 deafness, nonsyndromic sensorineural, mitochondrial 28.1 MT-TS1 MT-RNR1 MT-ND4 MT-CO1
3 nonsyndromic hearing loss and deafness, mitochondrial 10.3
4 multidrug-resistant tuberculosis 10.2
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
6 catatrichy 10.0
7 neural tube defects 10.0
8 telecanthus 10.0
9 branchiootic syndrome 1 10.0
10 scoliosis 10.0
11 cloacal exstrophy 10.0
12 allergic hypersensitivity disease 10.0
13 waardenburg's syndrome 10.0
14 age-related hearing loss 10.0
15 myelocystocele 10.0
16 restrictive cardiomyopathy 10.0
17 mutism 10.0
18 myopathy, lactic acidosis, and sideroblastic anemia 10.0 TRMU MT-ND4
19 lactic acidosis 9.9 MT-ND4 MT-CO1
20 sparganosis 9.9 MT-ND4 MT-CO1
21 cercarial dermatitis 9.8 MT-ND4 MT-CO1
22 leber optic atrophy 9.8 MT-ND4 MT-CO1
23 familial colorectal cancer 9.7 MT-ND4 MT-CO1
24 kearns-sayre syndrome 9.7 MT-ND4 MT-CO1
25 mitochondrial encephalomyopathy 9.6 MT-ND4 MT-CO1
26 mitochondrial complex iv deficiency 9.4 MT-ND4 MT-CO1
27 myoclonic epilepsy associated with ragged-red fibers 9.2 MT-TS1 MT-RNR1 MT-ND4
28 nonsyndromic deafness 9.2 TRMU MT-TS1 MT-RNR1
29 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.1 MT-TS1 MT-ND4 MT-CO1
30 mitochondrial myopathy 9.1 MT-TS1 MT-ND4 MT-CO1

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:

32
# Description HPO Frequency HPO Source Accession
1 aminoglycoside-induced hearing loss 32 HP:0011975

Symptoms via clinical synopsis from OMIM:

57
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 29 MT-TS1 TRMU

Anatomical Context for Deafness, Aminoglycoside-Induced

MalaCards organs/tissues related to Deafness, Aminoglycoside-Induced:

41
Bone

Publications for Deafness, Aminoglycoside-Induced

Articles related to Deafness, Aminoglycoside-Induced:

(show top 50) (show all 79)
# Title Authors PMID Year
1
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. 8 71
16152638 2005
2
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. 8 71
7689389 1993
3
Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder. 38 71
9391883 1997
4
Familial aggregation of streptomycin ototoxicity: autosomal dominant inheritance? 38 8
6644766 1983
5
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. 71
28049726 2017
6
Co-segregation of the T1095C with the A1555G mutation of the mitochondrial 12S rRNA gene in a patient with non-syndromic hearing loss. 71
18983818 2008
7
A mutation in mitochondrial 12S rRNA, A827G, in Argentinean family with hearing loss after aminoglycoside treatment. 71
18261986 2008
8
Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss. 71
17659260 2007
9
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. 71
17341440 2007
10
Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity. 71
16782057 2006
11
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. 71
16826519 2006
12
Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family. 71
16650816 2006
13
A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. 71
16528519 2006
14
Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene. 71
16631122 2006
15
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment. 71
16458854 2006
16
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. 71
16380089 2006
17
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness. 71
16375862 2006
18
Pivotal role of Harakiri in the induction and prevention of gentamicin-induced hearing loss. 8
16239342 2005
19
Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. 71
15708009 2005
20
Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation. 71
15637703 2005
21
Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation. 71
15555598 2004
22
Nonsyndromic Hearing Loss and Deafness, Mitochondrial 71
20301595 2004
23
Audiovestibular findings in patients with mitochondrial A1555G mutation. 71
14755216 2004
24
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. 71
14681830 2004
25
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. 71
12939650 2003
26
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. 71
12920080 2003
27
Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. 71
12655418 2003
28
Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family. 71
12624722 2003
29
Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia. 71
12955586 2003
30
The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs. 71
12372057 2002
31
Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. 71
11388757 2001
32
Maternally inherited deafness associated with a T1095C mutation in the mDNA. 71
11313749 2001
33
A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. 71
11079536 2000
34
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. 71
10915767 2000
35
Candidate locus for a nuclear modifier gene for maternally inherited deafness. 71
10788333 2000
36
Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. 71
10577941 1999
37
The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness. 71
10521300 1999
38
Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications. 71
10326749 1999
39
Hereditary Hearing Loss and Deafness Overview 71
20301607 1999
40
Mitochondrial deafness mutations reviewed. 71
10220138 1999
41
Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. 71
9915970 1999
42
Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation. 71
9887373 1998
43
Hearing loss due to the mitochondrial A1555G mutation in Italian families. 71
9779807 1998
44
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. 71
9490575 1998
45
Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. 71
9039999 1997
46
Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. 71
8817331 1996
47
Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. 71
7550368 1995
48
Sensorineural deafness inherited as a tissue specific mitochondrial disorder. 8
1613771 1992
49
Genetic aspects of antibiotic induced deafness: mitochondrial inheritance. 8
2002491 1991
50
Unique inheritance of streptomycin-induced deafness. 8
2736791 1989

Variations for Deafness, Aminoglycoside-Induced

ClinVar genetic disease variations for Deafness, Aminoglycoside-Induced:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MT-RNR1 m.961delTinsC(2_7) indel Pathogenic rs1556422499 MT:961-961 MT:961-961
2 MT-CO1 ; MT-TS1 NC_012920.1: m.7444G> A single nucleotide variant Pathogenic rs199474822 MT:7444-7444 MT:7444-7444
3 MT-RNR1 NC_012920.1: m.1555A> G single nucleotide variant drug response rs267606617 MT:1555-1555 MT:1555-1555
4 MT-RNR1 m.1095T> C single nucleotide variant drug response rs267606618 MT:1095-1095 MT:1095-1095
5 MT-RNR1 ; MT-TS1 m.1494C> T single nucleotide variant drug response rs267606619 MT:1494-1494 MT:1494-1494
6 MT-RNR1 m.827A> G single nucleotide variant drug response rs28358569 MT:827-827 MT:827-827
7 TRMU NM_018006.5(TRMU): c.28G> T (p.Ala10Ser) single nucleotide variant Benign rs11090865 22:46731689-46731689 22:46335792-46335792

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-ND4 MT-CO1

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-ND4 MT-CO1
2 cerebellum development GO:0021549 9.16 MT-ND4 MT-CO1
3 aerobic respiration GO:0009060 8.96 MT-ND4 MT-CO1
4 electron transport coupled proton transport GO:0015990 8.62 MT-ND4 MT-CO1

Sources for Deafness, Aminoglycoside-Induced

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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