DFNM
MCID: DFN349
MIFTS: 33

Deafness, Nonsyndromic Sensorineural, Mitochondrial (DFNM)

Categories: Ear diseases

Aliases & Classifications for Deafness, Nonsyndromic Sensorineural, Mitochondrial

MalaCards integrated aliases for Deafness, Nonsyndromic Sensorineural, Mitochondrial:

Name: Deafness, Nonsyndromic Sensorineural, Mitochondrial 57 29 6 40
Deafness, Sensorineural, Mitochondrial 74
Dfnm 74

Classifications:



External Ids:

OMIM 57 500008
MeSH 44 D006319
MedGen 42 C3151897

Summaries for Deafness, Nonsyndromic Sensorineural, Mitochondrial

OMIM : 57 Mutations in mitochondrial DNA (mtDNA) have been found to be associated with nonsyndromic sensorineural hearing loss. Matrilineal relatives within and among families carrying certain pathogenic mitochondrial mutations exhibit a wide range of penetrance, severity, and age of onset of hearing loss, indicating that the mitochondrial mutations by themselves are not sufficient to produce a deafness phenotype. Modifier factors, such as nuclear and mitochondrial genes, or environmental factors, such as exposure to aminoglycosides, appear to modulate the phenotypic manifestations (summary by Tang et al., 2007). (500008)

MalaCards based summary : Deafness, Nonsyndromic Sensorineural, Mitochondrial, also known as deafness, sensorineural, mitochondrial, is related to sideroblastic anemia and periodic paralysis with later-onset distal motor neuropathy. An important gene associated with Deafness, Nonsyndromic Sensorineural, Mitochondrial is MT-TS1 (Mitochondrially Encoded TRNA-Ser (UCN) 1), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..

UniProtKB/Swiss-Prot : 74 Deafness, sensorineural, mitochondrial: A form of non-syndromic deafness with maternal inheritance. Affected individuals manifest progressive, postlingual, sensorineural hearing loss involving high frequencies.

Related Diseases for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Diseases in the Deafness, Nonsyndromic Sensorineural, Mitochondrial family:

Deafness, Sensorineural, Autosomal-Mitochondrial Type

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 sideroblastic anemia 10.6 MT-CO1 MT-ATP6
2 periodic paralysis with later-onset distal motor neuropathy 10.5 MT-ATP8 MT-ATP6
3 genetic recurrent myoglobinuria 10.5 MT-CO3 MT-CO1
4 myoglobinuria 10.4 MT-CO3 MT-CO1
5 isolated atp synthase deficiency 10.4 MT-ATP8 MT-ATP6
6 epilepsy, familial temporal lobe, 2 10.3 MT-CO3 MT-CO1
7 coenurosis 10.3 MT-ND1 MT-CO1
8 sparganosis 10.3 MT-ND4 MT-CO1
9 myasthenic syndrome, congenital, 10 10.3 MT-CO2 MT-CO1
10 taeniasis 10.3 MT-ND1 MT-CO1
11 leber optic atrophy and dystonia 10.2 MT-ND4 MT-ND1
12 myiasis 10.2 MT-ND5 MT-CO1
13 cystic echinococcosis 10.2 MT-ND1 MT-CO1 MT-ATP6
14 echinococcosis 10.2 MT-ND1 MT-CO1 MT-ATP6
15 alzheimer disease mitochondrial 10.2 MT-ND2 MT-ND1
16 cercarial dermatitis 10.1 MT-ND4 MT-CO1 MT-ATP8
17 gaucher disease, type iii 10.1 MT-CO3 MT-CO2
18 diphyllobothriasis 10.0 MT-ND5 MT-CO1 MT-ATP8
19 parasitic helminthiasis infectious disease 10.0 MT-ND1 MT-CO1
20 cardiomyopathy, infantile hypertrophic 9.9 MT-CO3 MT-CO2 MT-ATP8 MT-ATP6
21 mitochondrial dna depletion syndrome 1 9.9 MT-CO3 MT-CO2 MT-ATP8 MT-ATP6
22 parasitic protozoa infectious disease 9.9 MT-CO2 MT-CO1
23 striatonigral degeneration, infantile 9.8 MT-ND4 MT-CO3 MT-ATP8 MT-ATP6
24 striatonigral degeneration, infantile, mitochondrial 9.8 MT-ND4 MT-CO3 MT-ATP8 MT-ATP6
25 myopathy, lactic acidosis, and sideroblastic anemia 3 9.8 MT-ND4 MT-CO3 MT-ATP8 MT-ATP6
26 myopathy, lactic acidosis, and sideroblastic anemia 9.8 MT-ND4 MT-CO3 MT-ATP8 MT-ATP6
27 ataxia and polyneuropathy, adult-onset 9.8 MT-ND4 MT-CO3 MT-ATP8 MT-ATP6
28 mitochondrial complex iv deficiency 9.8 MT-ND4 MT-CO3 MT-CO2 MT-CO1
29 cranial nerve disease 9.7 MT-ND5 MT-ND4 MT-ND1
30 neuropathy 9.6 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
31 mitochondrial metabolism disease 9.6 MT-ND5 MT-ND4 MT-CO2 MT-ATP6
32 optic nerve disease 9.5 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
33 nonsyndromic deafness 9.4 MT-TS1 MT-RNR1 MT-ND1
34 deafness, aminoglycoside-induced 9.4 MT-TS1 MT-RNR1 MT-ND4 MT-CO1
35 lactic acidosis 9.0 MT-ND5 MT-ND4 MT-ND1 MT-CO3 MT-CO1 MT-ATP6
36 mitochondrial non-syndromic sensorineural deafness 9.0 MT-TS1 MT-TH MT-RNR1 MT-CO1
37 retinitis pigmentosa 8.9 MT-ND5 MT-ND4 MT-CO3 MT-CO2 MT-ATP8 MT-ATP6
38 familial colorectal cancer 8.8 MT-ND5 MT-ND4 MT-CO3 MT-CO2 MT-CO1 MT-ATP8
39 kearns-sayre syndrome 8.4 MT-ND5 MT-ND4 MT-ND2 MT-ND1 MT-CO2 MT-CO1
40 myoclonic epilepsy associated with ragged-red fibers 8.4 MT-TS1 MT-TH MT-RNR1 MT-ND5 MT-ND4
41 mitochondrial encephalomyopathy 8.4 MT-ND5 MT-ND4 MT-ND2 MT-ND1 MT-CO3 MT-CO2
42 leber optic atrophy 8.1 MT-ND5 MT-ND4 MT-ND2 MT-ND1 MT-CO3 MT-CO2
43 leigh syndrome 8.1 MT-ND5 MT-ND4 MT-ND2 MT-ND1 MT-CO3 MT-CO2
44 mitochondrial myopathy 7.5 MT-TS1 MT-ND5 MT-ND4 MT-ND2 MT-ND1 MT-CO3
45 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 7.4 MT-TS1 MT-TH MT-ND5 MT-ND4 MT-ND1 MT-CO3

Graphical network of the top 20 diseases related to Deafness, Nonsyndromic Sensorineural, Mitochondrial:



Diseases related to Deafness, Nonsyndromic Sensorineural, Mitochondrial

Symptoms & Phenotypes for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Clinical features from OMIM:

500008

Drugs & Therapeutics for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Search Clinical Trials , NIH Clinical Center for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Genetic Tests for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Genetic tests related to Deafness, Nonsyndromic Sensorineural, Mitochondrial:

# Genetic test Affiliating Genes
1 Deafness, Nonsyndromic Sensorineural, Mitochondrial 29 MT-CO1 MT-TS1

Anatomical Context for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Publications for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Articles related to Deafness, Nonsyndromic Sensorineural, Mitochondrial:

(show top 50) (show all 72)
# Title Authors PMID Year
1
Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene. 8 71
21931169 2011
2
A mutation in mitochondrial 12S rRNA, A827G, in Argentinean family with hearing loss after aminoglycoside treatment. 8 71
18261986 2008
3
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. 8 71
17341440 2007
4
Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene. 8 71
16631122 2006
5
Audiovestibular findings in patients with mitochondrial A1555G mutation. 8 71
14755216 2004
6
Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation. 8 71
11175301 2001
7
Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. 8 71
10577941 1999
8
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. 8 71
10371545 1999
9
Maternally inherited nonsyndromic hearing loss. 8 71
10340654 1999
10
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. 8 71
8019558 1994
11
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. 8 71
7689389 1993
12
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
13
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 71
24651602 2014
14
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. 71
22241583 2012
15
Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family. 71
20153673 2010
16
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
17
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip. 71
17637808 2007
18
Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss. 71
17659260 2007
19
Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity. 71
16782057 2006
20
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. 71
16826519 2006
21
A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. 71
16528519 2006
22
Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family. 71
16650816 2006
23
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment. 71
16458854 2006
24
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
25
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
26
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. 71
16152638 2005
27
Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. 71
15708009 2005
28
Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation. 71
15637703 2005
29
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
30
Nonsyndromic Hearing Loss and Deafness, Mitochondrial 71
20301595 2004
31
Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss. 71
15286157 2004
32
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
33
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
34
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. 71
12920080 2003
35
Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. 71
12655418 2003
36
Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family. 71
12624722 2003
37
Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia. 71
12955586 2003
38
Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor. 71
12461693 2002
39
The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs. 71
12372057 2002
40
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction. 71
11378827 2001
41
Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. 71
11388757 2001
42
Maternally inherited deafness associated with a T1095C mutation in the mDNA. 71
11313749 2001
43
A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. 71
11079536 2000
44
Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome. 71
11069477 2000
45
A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment. 71
10978361 2000
46
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. 71
10915767 2000
47
Candidate locus for a nuclear modifier gene for maternally inherited deafness. 71
10788333 2000
48
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
49
Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids. 71
10545608 1999
50
Hereditary Hearing Loss and Deafness Overview 71
20301607 1999

Variations for Deafness, Nonsyndromic Sensorineural, Mitochondrial

ClinVar genetic disease variations for Deafness, Nonsyndromic Sensorineural, Mitochondrial:

6 (show all 21)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MT-TS1 NC_012920.1: m.7445A> G single nucleotide variant Pathogenic rs199474818 MT:7445-7445 MT:7445-7445
2 MT-TS1 m.7510T> C single nucleotide variant Pathogenic rs199474820 MT:7510-7510 MT:7510-7510
3 MT-TS1 m.7511T> C single nucleotide variant Pathogenic rs199474821 MT:7511-7511 MT:7511-7511
4 MT-TS1 m.7445A> C single nucleotide variant Pathogenic rs199474818 MT:7445-7445 MT:7445-7445
5 MT-CO1 ; MT-TS1 NC_012920.1: m.7444G> A single nucleotide variant Pathogenic rs199474822 MT:7444-7444 MT:7444-7444
6 MT-TH m.12201T> C single nucleotide variant Pathogenic rs387906733 MT:12201-12201 MT:12201-12201
7 MT-ND1 m.3388C> A single nucleotide variant Pathogenic rs387906730 MT:3388-3388 MT:3388-3388
8 MT-TS1 NC_012920.1: m.7443A> G single nucleotide variant Pathogenic rs397507452 MT:7443-7443 MT:7443-7443
9 MT-TS1 NC_012920.1: m.7505T> C single nucleotide variant Pathogenic rs724159989 MT:7505-7505 MT:7505-7505
10 MT-TS1 m.7471_7472insC duplication Pathogenic rs111033319 MT:7471-7471 MT:7471-7471
11 MT-TS1 NC_012920.1: m.7445A> T single nucleotide variant Pathogenic MT:7445-7445 MT:7445-7445
12 MT-TS1 NC_012920.1: m.7462C> T single nucleotide variant Pathogenic MT:7462-7462 MT:7462-7462
13 MT-RNR1 m.827A> G single nucleotide variant drug response rs28358569 MT:827-827 MT:827-827
14 MT-RNR1 NC_012920.1: m.1027A> G single nucleotide variant Likely pathogenic rs727504555 MT:1027-1027 MT:1027-1027
15 MT-RNR1 NC_012920.1: m.1555A> G single nucleotide variant drug response rs267606617 MT:1555-1555 MT:1555-1555
16 MT-RNR1 m.1095T> C single nucleotide variant drug response rs267606618 MT:1095-1095 MT:1095-1095
17 MT-RNR1 ; MT-TS1 m.1494C> T single nucleotide variant drug response rs267606619 MT:1494-1494 MT:1494-1494
18 MT-TI m.4295A> G single nucleotide variant Uncertain significance rs121434467 MT:4295-4295 MT:4295-4295
19 MT-RNR1 m.961_962delTinsC(n) indel Uncertain significance MT:961-962 MT:961-962
20 MT-RNR1 m.961T> G single nucleotide variant Likely benign rs3888511 MT:961-961 MT:961-961
21 MT-RNR1 m.1291T> C single nucleotide variant Likely benign rs267606620 MT:1291-1291 MT:1291-1291

Expression for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Search GEO for disease gene expression data for Deafness, Nonsyndromic Sensorineural, Mitochondrial.

Pathways for Deafness, Nonsyndromic Sensorineural, Mitochondrial

GO Terms for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Cellular components related to Deafness, Nonsyndromic Sensorineural, Mitochondrial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.91 MT-ND5 MT-ND4 MT-ND1 MT-CO3 MT-CO2 MT-CO1
2 mitochondrial membrane GO:0031966 9.63 MT-ND4 MT-ND1 MT-ATP8
3 mitochondrial respiratory chain complex I GO:0005747 9.46 MT-ND5 MT-ND4 MT-ND2 MT-ND1
4 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.43 MT-ATP8 MT-ATP6
5 respiratory chain complex IV GO:0045277 9.43 MT-CO3 MT-CO2 MT-CO1
6 respiratory chain GO:0070469 9.43 MT-ND5 MT-ND4 MT-ND2 MT-ND1 MT-CO2 MT-CO1
7 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.4 MT-ATP8 MT-ATP6
8 mitochondrial inner membrane GO:0005743 9.28 MT-ND5 MT-ND4 MT-ND2 MT-ND1 MT-CO3 MT-CO2
9 mitochondrial respiratory chain complex IV GO:0005751 9.02 MT-CO1
10 integral component of membrane GO:0016021 10.13 MT-ND5 MT-ND4 MT-ND2 MT-ND1 MT-CO3 MT-CO2

Biological processes related to Deafness, Nonsyndromic Sensorineural, Mitochondrial according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.85 MT-ND5 MT-ND4 MT-ND2 MT-ND1 MT-CO2 MT-CO1
2 aging GO:0007568 9.67 MT-ND4 MT-CO1 MT-ATP6
3 proton transmembrane transport GO:1902600 9.61 MT-CO3 MT-CO2 MT-CO1
4 mitochondrial respiratory chain complex I assembly GO:0032981 9.56 MT-ND5 MT-ND4 MT-ND2 MT-ND1
5 cerebellum development GO:0021549 9.54 MT-ND4 MT-CO1
6 cristae formation GO:0042407 9.52 MT-ATP8 MT-ATP6
7 ATP biosynthetic process GO:0006754 9.51 MT-ATP8 MT-ATP6
8 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.5 MT-CO3 MT-CO2 MT-CO1
9 ATP synthesis coupled proton transport GO:0015986 9.48 MT-ATP8 MT-ATP6
10 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.46 MT-ATP8 MT-ATP6
11 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.46 MT-ND5 MT-ND4 MT-ND2 MT-ND1
12 electron transport coupled proton transport GO:0015990 9.4 MT-ND4 MT-CO1
13 ATP synthesis coupled electron transport GO:0042773 9.13 MT-ND5 MT-ND4 MT-CO2
14 aerobic respiration GO:0009060 8.92 MT-ND4 MT-ND1 MT-CO3 MT-CO1

Molecular functions related to Deafness, Nonsyndromic Sensorineural, Mitochondrial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytochrome-c oxidase activity GO:0004129 9.43 MT-CO3 MT-CO2 MT-CO1
2 oxidoreductase activity GO:0016491 9.33 MT-ND2 MT-CO2 MT-CO1
3 proton transmembrane transporter activity GO:0015078 9.32 MT-ATP8 MT-ATP6
4 NADH dehydrogenase activity GO:0003954 9.13 MT-ND5 MT-ND4 MT-ND1
5 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.92 MT-ND5 MT-ND4 MT-ND2 MT-ND1

Sources for Deafness, Nonsyndromic Sensorineural, 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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
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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
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73 UMLS via Orphanet
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