DFNI
MCID: DFN350
MIFTS: 26

Deafness, Aminoglycoside-Induced (DFNI)

Categories: Ear diseases, Genetic diseases

Aliases & Classifications for Deafness, Aminoglycoside-Induced

MalaCards integrated aliases for Deafness, Aminoglycoside-Induced:

Name: Deafness, Aminoglycoside-Induced 56 73 39 71
Deafness, Mitochondrial, Modifier of 56 13 6
Aminoglycoside-Induced Deafness 29 6
Deafness, Streptomycin-Induced 56 73
Streptomycin Ototoxicity 56 73
Dfni 73

Characteristics:

OMIM:

56
Inheritance:
mitochondrial


HPO:

31
deafness, aminoglycoside-induced:
Inheritance mitochondrial inheritance


Classifications:



External Ids:

OMIM 56 580000
MeSH 43 D006319
MedGen 41 C1838854
UMLS 71 C1838854

Summaries for Deafness, Aminoglycoside-Induced

OMIM : 56 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 nonsyndromic hearing loss and deafness, mitochondrial. An important gene associated with Deafness, Aminoglycoside-Induced is TRMU (TRNA 5-Methylaminomethyl-2-Thiouridylate Methyltransferase). Affiliated tissues include bone, and related phenotype is aminoglycoside-induced hearing loss.

UniProtKB/Swiss-Prot : 73 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 31)
# Related Disease Score Top Affiliating Genes
1 deafness, nonsyndromic sensorineural, mitochondrial 29.5 MT-TS1 MT-RNR1
2 nonsyndromic hearing loss and deafness, mitochondrial 29.3 TRMU MT-TS1 MT-RNR1
3 mitochondrial non-syndromic sensorineural deafness 28.9 TRMU MT-TS1 MT-RNR1
4 multidrug-resistant tuberculosis 10.2
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
6 catatrichy 10.1
7 neural tube defects 10.1
8 telecanthus 10.1
9 branchiootic syndrome 1 10.1
10 scoliosis 10.1
11 cloacal exstrophy 10.1
12 allergic hypersensitivity disease 10.1
13 waardenburg's syndrome 10.1
14 age-related hearing loss 10.1
15 myelocystocele 10.1
16 restrictive cardiomyopathy 10.0
17 mutism 10.0
18 lactic acidosis 9.8 TRMU MT-TS1
19 deafness, autosomal dominant 51 9.6 MT-TS1 MT-RNR1
20 x-linked nonsyndromic deafness 9.6 MT-TS1 MT-RNR1
21 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 MT-TS1 MT-RNR1
22 myoclonic epilepsy associated with ragged-red fibers 9.6 MT-TS1 MT-RNR1
23 autosomal dominant nonsyndromic deafness 9.6 MT-TS1 MT-RNR1
24 rare genetic deafness 9.5 MT-TS1 MT-RNR1
25 leber optic atrophy 9.5 MT-TS1 MT-RNR1
26 leigh syndrome 9.4 TRMU MT-TS1
27 sensorineural hearing loss 9.4 MT-TS1 MT-RNR1
28 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.2 TRMU MT-TS1 MT-RNR1
29 mitochondrial myopathy 9.2 TRMU MT-TS1 MT-RNR1
30 mitochondrial encephalomyopathy 9.2 TRMU MT-TS1 MT-RNR1
31 nonsyndromic deafness 9.2 TRMU MT-TS1 MT-RNR1

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:

31
# Description HPO Frequency HPO Source Accession
1 aminoglycoside-induced hearing loss 31 HP:0011975

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56 6
16152638 2005
2
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. 56 6
7689389 1993
3
Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder. 61 6
9391883 1997
4
Familial aggregation of streptomycin ototoxicity: autosomal dominant inheritance? 61 56
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. 6
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. 6
18983818 2008
7
A mutation in mitochondrial 12S rRNA, A827G, in Argentinean family with hearing loss after aminoglycoside treatment. 6
18261986 2008
8
Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss. 6
17659260 2007
9
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. 6
17341440 2007
10
Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity. 6
16782057 2006
11
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. 6
16826519 2006
12
A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. 6
16528519 2006
13
Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene. 6
16631122 2006
14
Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family. 6
16650816 2006
15
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment. 6
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. 6
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. 6
16375862 2006
18
Pivotal role of Harakiri in the induction and prevention of gentamicin-induced hearing loss. 56
16239342 2005
19
Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. 6
15708009 2005
20
Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation. 6
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. 6
15555598 2004
22
Nonsyndromic Hearing Loss and Deafness, Mitochondrial 6
20301595 2004
23
Audiovestibular findings in patients with mitochondrial A1555G mutation. 6
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. 6
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. 6
12939650 2003
26
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. 6
12920080 2003
27
Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. 6
12655418 2003
28
Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family. 6
12624722 2003
29
Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia. 6
12955586 2003
30
The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs. 6
12372057 2002
31
Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. 6
11388757 2001
32
Maternally inherited deafness associated with a T1095C mutation in the mDNA. 6
11313749 2001
33
A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. 6
11079536 2000
34
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. 6
10915767 2000
35
Candidate locus for a nuclear modifier gene for maternally inherited deafness. 6
10788333 2000
36
Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. 6
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. 6
10521300 1999
38
Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications. 6
10326749 1999
39
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
40
Mitochondrial deafness mutations reviewed. 6
10220138 1999
41
Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. 6
9915970 1999
42
Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation. 6
9887373 1998
43
Hearing loss due to the mitochondrial A1555G mutation in Italian families. 6
9779807 1998
44
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. 6
9490575 1998
45
Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. 6
9039999 1997
46
Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. 6
8817331 1996
47
Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. 6
7550368 1995
48
Sensorineural deafness inherited as a tissue specific mitochondrial disorder. 56
1613771 1992
49
Genetic aspects of antibiotic induced deafness: mitochondrial inheritance. 56
2002491 1991
50
Unique inheritance of streptomycin-induced deafness. 56
2736791 1989

Variations for Deafness, Aminoglycoside-Induced

ClinVar genetic disease variations for Deafness, Aminoglycoside-Induced:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MT-RNR1 m.961delTinsC(2_7)indel Pathogenic 9629 rs1556422499 MT:961-961 MT:961-961
2 MT-RNR1 m.1095T>CSNV drug response 9631 rs267606618 MT:1095-1095 MT:1095-1095
3 MT-RNR1 , MT-TS1 m.1494C>TSNV drug response 9632 rs267606619 MT:1494-1494 MT:1494-1494
4 MT-RNR1 m.827A>GSNV drug response 9634 rs28358569 MT:827-827 MT:827-827
5 MT-RNR1 NC_012920.1:m.1555A>GSNV drug response 9628 rs267606617 MT:1555-1555 MT:1555-1555
6 TRMU NM_018006.5(TRMU):c.28G>T (p.Ala10Ser)SNV Benign 1290 rs11090865 22:46731689-46731689 22:46335792-46335792
7 MT-CO1 , MT-TS1 NC_012920.1:m.7444G>ASNV Benign 9663 rs199474822 MT:7444-7444 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

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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