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 24

Characteristics:

GeneReviews:

24
Penetrance Mt-rnr1...

Classifications:



Summaries for Nonsyndromic Hearing Loss and Deafness, Mitochondrial

MalaCards based summary : Nonsyndromic Hearing Loss and Deafness, Mitochondrial is related to deafness, nonsyndromic sensorineural, mitochondrial and nonsyndromic deafness. An important gene associated with Nonsyndromic Hearing Loss and Deafness, Mitochondrial is MT-CO1 (Mitochondrially Encoded Cytochrome C Oxidase I). Affiliated tissues include testes.

GeneReviews: NBK1422

Related Diseases for Nonsyndromic Hearing Loss and Deafness, Mitochondrial

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

MalaCards organs/tissues related to Nonsyndromic Hearing Loss and Deafness, Mitochondrial:

41
Testes

Publications for Nonsyndromic Hearing Loss and Deafness, Mitochondrial

Articles related to Nonsyndromic Hearing Loss and Deafness, Mitochondrial:

(show top 50) (show all 98)
# Title Authors PMID Year
1
Allele-specific PCR for detecting the deafness-associated mitochondrial 12S rRNA mutations. 4
27397648 2016
2
A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction. 4
27519417 2016
3
GJB2, SLC26A4, and mitochondrial DNA12S rRNA hot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, China. 4
27066914 2016
4
Genetic counseling for patients with nonsyndromic hearing impairment directed by gene analysis. 4
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. 4
27627659 2016
6
Screening and analysis of mutation hot-spots in deafness-associated genes among adolescents with hearing loss. 4
26499821 2015
7
Mutations causing mitochondrial disease: What is new and what challenges remain? 4
26404827 2015
8
Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss. 4
25968158 2015
9
Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences. 4
25744662 2015
10
Maternally inherited diabetes is associated with a homoplasmic T10003C mutation in the mitochondrial tRNA(Gly) gene. 4
25615420 2015
11
Mitochondrial mutations associated with aminoglycoside ototoxicity and hearing loss susceptibility identified by meta-analysis. 4
25515069 2015
12
Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China. 4
26252218 2015
13
Analysis of common deafness gene mutations in deaf people from unique ethnic groups in Gansu Province, China. 4
24941117 2014
14
Mitochondrial mutation m.1555A>G as a risk factor for failed newborn hearing screening in a large cohort of preterm infants. 4
25155176 2014
15
Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum. 4
24612839 2014
16
Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation. 4
24533451 2014
17
Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening. 4
24401907 2014
18
Newborn hearing concurrent genetic screening for hearing impairment-a clinical practice in 58,397 neonates in Tianjin, China. 4
24100002 2013
19
Association between idiopathic hearing loss and mitochondrial DNA mutations: a study on 169 hearing-impaired subjects. 4
23969527 2013
20
Newborn genetic screening for high risk deafness-associated mutations with a new Tetra-primer ARMS PCR kit. 4
23815884 2013
21
Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China. 4
23826813 2013
22
Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study. 4
23301511 2013
23
The clinical and audiologic features of hearing loss due to mitochondrial mutations. 4
23525847 2013
24
Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs pediatric populations. 4
22785241 2012
25
Rapid screening for the mitochondrial DNA C1494T mutation in a deaf population in China using real-time quantitative PCR. 4
22497215 2012
26
Auditory screening concurrent deafness predisposing genes screening in 10,043 neonates in Gansu province, China. 4
22510577 2012
27
Mitochondrial tRNA mutations associated with deafness. 4
22538251 2012
28
Patients with CDH23 mutations and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS). 4
22443853 2012
29
Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study. 4
22384008 2012
30
Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene. 4
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. 4
21621438 2011
32
The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population. 4
21495045 2011
33
Prevalence of A1555G mitochondrial mutation in Chinese newborns and the correlation with neonatal hearing screening. 4
21324532 2011
34
Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. 4
21047563 2011
35
Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China. 4
21162657 2011
36
Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center. 4
21811586 2011
37
Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics. 4
21205314 2011
38
Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss. 4
20722495 2010
39
Newborn hearing screening and genetic testing in 8974 Brazilian neonates. 4
20538352 2010
40
A neurological perspective on mitochondrial disease. 4
20650404 2010
41
Screening of a Greek deafness population for the A7445G mitochondrial DNA mutation. 4
20382059 2010
42
Should patients be screened for 12S rRNA mutations before treatment with aminoglycosides? 4
20302974 2010
43
Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss. 4
20100600 2010
44
Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family. 4
20153673 2010
45
Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss. 4
20353758 2010
46
Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation. 4
19818876 2010
47
The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss. 4
19835846 2009
48
Mitochondrial haplotype and phenotype of 13 Chinese families may suggest multi-original evolution of mitochondrial C1494T mutation. 4
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. 4
19376484 2009
50
Prevalence of mitochondrial 1555A-->G mutation in European children. 4
19196684 2009

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

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
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36 IUPHAR
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49 NCI
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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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