MCID: NNS010
MIFTS: 13

Nonsyndromic Hearing Loss and Deafness, Mitochondrial

Categories: Ear diseases

Aliases & Classifications for Nonsyndromic Hearing Loss and Deafness, Mitochondrial

MalaCards integrated aliases for Nonsyndromic Hearing Loss and Deafness, Mitochondrial:

Name: Nonsyndromic Hearing Loss and Deafness, Mitochondrial 25

Characteristics:

GeneReviews:

25
Penetrance Mt-rnr1...

Classifications:



Summaries for Nonsyndromic Hearing Loss and Deafness, Mitochondrial

MalaCards based summary : Nonsyndromic Hearing Loss and Deafness, Mitochondrial is related to sensorineural hearing loss and branchiootic syndrome 1. An important gene associated with Nonsyndromic Hearing Loss and Deafness, Mitochondrial is MT-CO1 (Mitochondrially Encoded Cytochrome C Oxidase I).

GeneReviews: NBK1422

Related Diseases for Nonsyndromic Hearing Loss and Deafness, Mitochondrial

Diseases related to Nonsyndromic Hearing Loss and Deafness, Mitochondrial via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 32, show less)
# Related Disease Score Top Affiliating Genes
1 sensorineural hearing loss 29.7 MT-TS1 MT-RNR1 MT-CO1
2 branchiootic syndrome 1 10.2
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
4 keratosis 10.2
5 palmoplantar keratosis 10.2
6 nonsyndromic hearing loss 10.2
7 mitochondrial myopathy, infantile, transient 10.0 TRMU MT-CO1
8 diffuse palmoplantar keratoderma 9.9 MT-TS1 MT-CO1
9 keratoderma, palmoplantar, with deafness 9.9 MT-TS1 MT-CO1
10 pthirus pubis infestation 9.9 MT-TS1 MT-CO1
11 lice infestation 9.9 MT-TS1 MT-CO1
12 parasitic ectoparasitic infectious disease 9.9 MT-TS1 MT-CO1
13 x-linked nonsyndromic deafness 9.9 MT-TS1 MT-RNR1
14 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 9.9 MT-TS1 MT-CO1
15 kearns-sayre syndrome 9.8 TRMU MT-CO1
16 idiopathic bilateral vestibulopathy 9.8 RNR1 MT-RNR1
17 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.8 MT-TS1 MT-RNR1
18 congenital cytomegalovirus 9.8 RNR1 MT-RNR1
19 autosomal dominant nonsyndromic deafness 9.8 MT-TS1 MT-RNR1
20 rare genetic deafness 9.7 MT-TS1 MT-RNR1
21 myopathy 9.7 TRMU MT-TS1 MT-CO1
22 lactic acidosis 9.7 TRMU MT-TS1 MT-CO1
23 myoclonic epilepsy associated with ragged-red fibers 9.7 MT-TS1 MT-RNR1 MT-CO1
24 mitochondrial encephalomyopathy 9.7 TRMU MT-TS1 MT-CO1
25 drug-induced hearing loss 9.7 TRMU MT-TS1 MT-RNR1
26 usher syndrome, type i 9.6 TRMU MT-RNR1
27 leigh syndrome 9.6 TRMU MT-TS1 MT-CO1
28 deafness, nonsyndromic sensorineural, mitochondrial 9.4 TRMU MT-TS1 MT-RNR1 MT-CO1
29 deafness, aminoglycoside-induced 9.4 TRMU MT-TS1 MT-RNR1 MT-CO1
30 leber hereditary optic neuropathy, modifier of 9.4 TRMU MT-TS1 MT-RNR1 MT-CO1
31 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.4 TRMU MT-TS1 MT-RNR1 MT-CO1
32 mitochondrial myopathy 9.4 TRMU MT-TS1 MT-RNR1 MT-CO1

Graphical network of the top 20 diseases related to Nonsyndromic Hearing Loss and Deafness, Mitochondrial:



Diseases related to Nonsyndromic Hearing Loss and Deafness, Mitochondrial

Symptoms & Phenotypes for Nonsyndromic Hearing Loss and Deafness, Mitochondrial

Drugs & Therapeutics for Nonsyndromic Hearing Loss and Deafness, Mitochondrial

Search Clinical Trials , NIH Clinical Center for Nonsyndromic Hearing Loss and Deafness, Mitochondrial

Genetic Tests for Nonsyndromic Hearing Loss and Deafness, Mitochondrial

Anatomical Context for Nonsyndromic Hearing Loss and Deafness, Mitochondrial

Publications for Nonsyndromic Hearing Loss and Deafness, Mitochondrial

Articles related to Nonsyndromic Hearing Loss and Deafness, Mitochondrial:

(showing 98, show less)
# Title Authors PMID Year
1
Allele-specific PCR for detecting the deafness-associated mitochondrial 12S rRNA mutations. 25
27397648 2016
2
A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction. 25
27519417 2016
3
GJB2, SLC26A4, and mitochondrial DNA12S rRNA hot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, China. 25
27066914 2016
4
Genetic counseling for patients with nonsyndromic hearing impairment directed by gene analysis. 25
26783197 2016
5
Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients. 25
27627659 2016
6
Screening and analysis of mutation hot-spots in deafness-associated genes among adolescents with hearing loss. 25
26499821 2015
7
Mutations causing mitochondrial disease: What is new and what challenges remain? 25
26404827 2015
8
Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss. 25
25968158 2015
9
Maternally inherited diabetes is associated with a homoplasmic T10003C mutation in the mitochondrial tRNA(Gly) gene. 25
25615420 2015
10
Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences. 25
25744662 2015
11
Mitochondrial mutations associated with aminoglycoside ototoxicity and hearing loss susceptibility identified by meta-analysis. 25
25515069 2015
12
Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China. 25
26252218 2015
13
Analysis of common deafness gene mutations in deaf people from unique ethnic groups in Gansu Province, China. 25
24941117 2014
14
Mitochondrial mutation m.1555A>G as a risk factor for failed newborn hearing screening in a large cohort of preterm infants. 25
25155176 2014
15
Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum. 25
24612839 2014
16
Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening. 25
24401907 2014
17
Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation. 25
24533451 2014
18
Newborn hearing concurrent genetic screening for hearing impairment-a clinical practice in 58,397 neonates in Tianjin, China. 25
24100002 2013
19
Association between idiopathic hearing loss and mitochondrial DNA mutations: a study on 169 hearing-impaired subjects. 25
23969527 2013
20
Newborn genetic screening for high risk deafness-associated mutations with a new Tetra-primer ARMS PCR kit. 25
23815884 2013
21
Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China. 25
23826813 2013
22
The clinical and audiologic features of hearing loss due to mitochondrial mutations. 25
23525847 2013
23
Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study. 25
23301511 2013
24
Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs pediatric populations. 25
22785241 2012
25
Rapid screening for the mitochondrial DNA C1494T mutation in a deaf population in China using real-time quantitative PCR. 25
22497215 2012
26
Auditory screening concurrent deafness predisposing genes screening in 10,043 neonates in Gansu province, China. 25
22510577 2012
27
Mitochondrial tRNA mutations associated with deafness. 25
22538251 2012
28
Patients with CDH23 mutations and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS). 25
22443853 2012
29
Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study. 25
22384008 2012
30
Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene. 25
21931169 2011
31
The contribution of the mitochondrial COI/tRNA(Ser(UCN)) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients. 25
21621438 2011
32
The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population. 25
21495045 2011
33
Prevalence of A1555G mitochondrial mutation in Chinese newborns and the correlation with neonatal hearing screening. 25
21324532 2011
34
Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. 25
21047563 2011
35
Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China. 25
21162657 2011
36
Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics. 25
21205314 2011
37
Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center. 25
21811586 2011
38
Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss. 25
20722495 2010
39
Newborn hearing screening and genetic testing in 8974 Brazilian neonates. 25
20538352 2010
40
A neurological perspective on mitochondrial disease. 25
20650404 2010
41
Screening of a Greek deafness population for the A7445G mitochondrial DNA mutation. 25
20382059 2010
42
Should patients be screened for 12S rRNA mutations before treatment with aminoglycosides? 25
20302974 2010
43
Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss. 25
20100600 2010
44
Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family. 25
20153673 2010
45
Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss. 25
20353758 2010
46
Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation. 25
19818876 2010
47
The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss. 25
19835846 2009
48
Mitochondrial haplotype and phenotype of 13 Chinese families may suggest multi-original evolution of mitochondrial C1494T mutation. 25
19682603 2009
49
Mitochondrial tRNA(Glu) A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family. 25
19376484 2009
50
Prevalence of mitochondrial 1555A-->G mutation in European children. 25
19196684 2009
51
Prevalence of mitochondrial 1555A-->G mutation in adults of European descent. 25
19196685 2009
52
A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness. 25
19144107 2009
53
Genetic analysis of interactions with eukaryotic rRNA identify the mitoribosome as target in aminoglycoside ototoxicity. 25
19104050 2008
54
Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss. 25
18639500 2008
55
Mitochondrial deafness alleles confer misreading of the genetic code. 25
18308926 2008
56
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip. 25
17637808 2007
57
Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees. 25
17698299 2007
58
Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss. 25
17698030 2007
59
Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss. 25
17659260 2007
60
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. 25
17341440 2007
61
Carrier frequency of the 35delG and A1555G deafness mutations in the Argentinean population. Impact on the newborn hearing screening. 25
17276518 2007
62
Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene. 25
16631122 2006
63
Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes in two Chinese families. 25
16500624 2006
64
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment. 25
16458854 2006
65
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness. 25
16375862 2006
66
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. 25
16380089 2006
67
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. 25
16152638 2005
68
A7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma. 25
15987292 2005
69
Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. 25
15708009 2005
70
Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNASerUCN gene in a Japanese family. 25
15670746 2005
71
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. 25
15292920 2005
72
Molecular pathogenetic mechanism of maternally inherited deafness. 25
15126302 2004
73
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. 25
14681830 2004
74
Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness. 25
14960712 2004
75
A review of cochlear implantation in mitochondrial sensorineural hearing loss. 25
12806294 2003
76
Aminoglycoside ototoxicity. 25
12743643 2003
77
Clinical features of diabetes mellitus with the mitochondrial DNA 3243 (A-G) mutation in Japanese: maternal inheritance and mitochondria-related complications. 25
12590018 2003
78
Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene. 25
12471220 2002
79
Genetic susceptibility to aminoglycoside ototoxicity: how many are at risk? 25
12394346 2002
80
In vitro 3'-end endonucleolytic processing defect in a human mitochondrial tRNA(Ser(UCN)) precursor with the U7445C substitution, which causes non-syndromic deafness. 25
11691920 2001
81
Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family. 25
11437868 2001
82
Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome. 25
11069477 2000
83
A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment. 25
10978361 2000
84
Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies. 25
10661905 2000
85
Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. 25
10577941 1999
86
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. 25
10371545 1999
87
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene. 25
10094190 1999
88
The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression. 25
9742104 1998
89
Early-onset sensorineural hearing loss and late-onset neurologic complaints caused by a mitochondrial mutation at position 7472. 25
9708714 1998
90
Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation. 25
9632174 1998
91
Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes. 25
9571188 1998
92
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. 25
9490575 1998
93
Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. 25
9450881 1998
94
Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness. 25
9315872 1997
95
Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity. 25
9164619 1997
96
Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. 25
7581383 1995
97
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. 25
8019558 1994
98
Nonsyndromic Hearing Loss and Deafness, Mitochondrial 61
20301595 2004

Variations for Nonsyndromic Hearing Loss and Deafness, Mitochondrial

Expression for Nonsyndromic Hearing Loss and Deafness, Mitochondrial

Search GEO for disease gene expression data for Nonsyndromic Hearing Loss and Deafness, Mitochondrial.

Pathways for Nonsyndromic Hearing Loss and Deafness, Mitochondrial

GO Terms for Nonsyndromic Hearing Loss and Deafness, Mitochondrial

Sources for Nonsyndromic Hearing Loss and Deafness, Mitochondrial

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