MCID: DFN349
MIFTS: 26

Deafness, Nonsyndromic Sensorineural, Mitochondrial

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 75
Dfnm 75

Classifications:



External Ids:

OMIM 57 500008
MedGen 42 C3151897
MeSH 44 D006319

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 genetic recurrent myoglobinuria and periodic paralysis with later-onset distal motor neuropathy. An important gene associated with Deafness, Nonsyndromic Sensorineural, Mitochondrial is MT-RNR1 (Mitochondrially Encoded 12S RNA), 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 : 75 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 top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 genetic recurrent myoglobinuria 10.6 MT-CO1 MT-CO3
2 periodic paralysis with later-onset distal motor neuropathy 10.6 MT-ATP6 MT-ATP8
3 isolated atp synthase deficiency 10.6 MT-ATP6 MT-ATP8
4 mitochondrial complex v deficiency 10.5 MT-ATP6 MT-ATP8
5 coenurosis 10.5 MT-CO1 MT-ND1
6 epilepsy, familial temporal lobe, 2 10.5 MT-CO1 MT-CO3
7 taeniasis 10.4 MT-CO1 MT-ND1
8 myiasis 10.4 MT-CO1 MT-ND5
9 cysticercosis 10.4 MT-CO1 MT-ND1
10 sparganosis 10.4 MT-CO1 MT-ND4
11 alzheimer disease mitochondrial 10.3 MT-ND1 MT-ND2
12 myoglobinuria 10.3 MT-CO1 MT-CO3
13 leber optic atrophy and dystonia 10.3 MT-ND1 MT-ND4
14 cystic echinococcosis 10.3 MT-ATP6 MT-CO1 MT-ND1
15 myoglobinuria, recurrent 10.3 MT-CO1 MT-CO2 MT-ND2
16 mitochondrial complex iv deficiency 10.2 MT-CO1 MT-CO2 MT-CO3
17 echinococcosis 10.2 MT-ATP6 MT-CO1 MT-ND1
18 mitochondrial metabolism disease 10.2 MT-ATP6 MT-ND5
19 parasitic helminthiasis infectious disease 10.2 MT-CO1 MT-ND1
20 parasitic protozoa infectious disease 10.2 MT-CO1 MT-CO2
21 diphyllobothriasis 10.2 MT-ATP8 MT-CO1 MT-ND5
22 cercarial dermatitis 10.1 MT-ATP8 MT-CO1 MT-ND4
23 sideroblastic anemia acquired 10.1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2
24 cardiomyopathy, infantile hypertrophic 10.0 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3
25 mitochondrial dna depletion syndrome 1 9.9 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3
26 encephalomyopathy 9.8 MT-ND1 MT-ND4 MT-ND5
27 cranial nerve disease 9.7 MT-ND1 MT-ND4 MT-ND5
28 optic nerve disease 9.7 MT-ND1 MT-ND4 MT-ND5
29 striatonigral degeneration, infantile, mitochondrial 9.7 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
30 myopathy, lactic acidosis, and sideroblastic anemia 3 9.7 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
31 striatonigral degeneration, infantile 9.7 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
32 ataxia and polyneuropathy, adult-onset 9.7 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
33 myopathy, lactic acidosis, and sideroblastic anemia 9.7 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
34 3-methylglutaconic aciduria 9.7 MT-ND1 MT-ND2
35 neuropathy 9.7 MT-ATP6 MT-ND1 MT-ND4
36 hereditary hearing loss and deafness 9.4 MT-CO1 MT-RNR1 MT-TS1
37 lactic acidosis 9.1 MT-ATP6 MT-CO3 MT-ND1 MT-ND4 MT-ND5
38 mitochondrial complex i deficiency 9.0 MT-CO1 MT-ND1 MT-ND2 MT-ND4 MT-ND5
39 nonsyndromic deafness 9.0 MT-ND1 MT-RNR1 MT-TS1
40 mitochondrial non-syndromic sensorineural deafness 8.8 MT-CO1 MT-RNR1 MT-TH MT-TS1
41 deafness, aminoglycoside-induced 8.8 MT-CO1 MT-ND4 MT-RNR1 MT-TS1
42 retinitis pigmentosa 8.7 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 MT-ND4 MT-ND5
43 mitochondrial dna-associated leigh syndrome and narp 8.6 MT-ATP6 MT-CO3 MT-ND1 MT-ND2 MT-ND4 MT-ND5
44 familial colorectal cancer 8.5 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND4
45 kearns-sayre syndrome 8.5 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-ND1 MT-ND4
46 myopathy 8.4 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4
47 mitochondrial encephalomyopathy 8.3 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND4
48 leber hereditary optic neuropathy 8.3 MT-ATP6 MT-CO1 MT-CO3 MT-ND1 MT-ND2 MT-ND4
49 myoclonic epilepsy associated with ragged-red fibers 8.0 MT-ND4 MT-ND5 MT-RNR1 MT-TH MT-TS1
50 mitochondrial myopathy 7.6 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1

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-RNR1 MT-TS1

Anatomical Context for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Publications for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Variations for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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

6
(show all 31)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TS1 m.7445A> G single nucleotide variant Pathogenic rs199474818 GRCh37 Chromosome MT, 7445: 7445
2 MT-TS1 m.7445A> G single nucleotide variant Pathogenic rs199474818 GRCh38 Chromosome MT, 7445: 7445
3 MT-TS1 m.7510T> C single nucleotide variant Pathogenic rs199474820 GRCh37 Chromosome MT, 7510: 7510
4 MT-TS1 m.7510T> C single nucleotide variant Pathogenic rs199474820 GRCh38 Chromosome MT, 7510: 7510
5 MT-TS1 m.7511T> C single nucleotide variant Pathogenic rs199474821 GRCh37 Chromosome MT, 7511: 7511
6 MT-TS1 m.7511T> C single nucleotide variant Pathogenic rs199474821 GRCh38 Chromosome MT, 7511: 7511
7 MT-TS1 m.7445A> C single nucleotide variant Pathogenic rs199474818 GRCh37 Chromosome MT, 7445: 7445
8 MT-TS1 m.7445A> C single nucleotide variant Pathogenic rs199474818 GRCh38 Chromosome MT, 7445: 7445
9 MT-CO1; MT-RNR1 m.1555A> G single nucleotide variant drug response rs267606617 GRCh37 Chromosome MT, 1555: 1555
10 MT-CO1; MT-RNR1 m.1555A> G single nucleotide variant drug response rs267606617 GRCh38 Chromosome MT, 1555: 1555
11 MT-RNR1 m.1095T> C single nucleotide variant drug response rs267606618 GRCh37 Chromosome MT, 1095: 1095
12 MT-RNR1 m.1095T> C single nucleotide variant drug response rs267606618 GRCh38 Chromosome MT, 1095: 1095
13 MT-RNR1 m.1494C> T single nucleotide variant drug response rs267606619 GRCh37 Chromosome MT, 1494: 1494
14 MT-RNR1 m.1494C> T single nucleotide variant drug response rs267606619 GRCh38 Chromosome MT, 1494: 1494
15 MT-RNR1 m.827A> G single nucleotide variant Pathogenic rs28358569 GRCh37 Chromosome MT, 827: 827
16 MT-RNR1 m.827A> G single nucleotide variant Pathogenic rs28358569 GRCh38 Chromosome MT, 827: 827
17 MT-CO1; MT-TS1 m.7444G> A single nucleotide variant Pathogenic rs199474822 GRCh37 Chromosome MT, 7444: 7444
18 MT-CO1; MT-TS1 m.7444G> A single nucleotide variant Pathogenic rs199474822 GRCh38 Chromosome MT, 7444: 7444
19 MT-ND1 m.3388C> A single nucleotide variant Pathogenic rs387906730 GRCh38 Chromosome MT, 3388: 3388
20 MT-ND1 m.3388C> A single nucleotide variant Pathogenic rs387906730 GRCh37 Chromosome MT, 3388: 3388
21 MT-TH m.12201T> C single nucleotide variant Pathogenic rs387906733 GRCh38 Chromosome MT, 12201: 12201
22 MT-TH m.12201T> C single nucleotide variant Pathogenic rs387906733 GRCh37 Chromosome MT, 12201: 12201
23 MT-TS1 m.7443A> G single nucleotide variant Pathogenic rs397507452 GRCh38 Chromosome MT, 7443: 7443
24 MT-TS1 m.7443A> G single nucleotide variant Pathogenic rs397507452 GRCh37 Chromosome MT, 7443: 7443
25 MT-TS1 NC_012920.1: m.7505T> C single nucleotide variant Pathogenic rs724159989 GRCh37 Chromosome MT, 7505: 7505
26 MT-TS1 NC_012920.1: m.7505T> C single nucleotide variant Pathogenic rs724159989 GRCh38 Chromosome MT, 7505: 7505
27 MT-TS1 m.7471_7472insC duplication Pathogenic rs111033319 GRCh37 Chromosome MT, 7471: 7471
28 MT-TS1 m.7471_7472insC duplication Pathogenic rs111033319 GRCh38 Chromosome MT, 7471: 7471
29 m.961_962delTinsC(n) indel Pathogenic
30 MT-RNR1 NC_012920.1: m.1027A> G single nucleotide variant Likely pathogenic rs727504555 GRCh37 Chromosome MT, 1027: 1027
31 MT-RNR1 NC_012920.1: m.1027A> G single nucleotide variant Likely pathogenic rs727504555 GRCh38 Chromosome MT, 1027: 1027

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-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4
2 mitochondrial membrane GO:0031966 9.61 MT-ATP8 MT-ND1 MT-ND4
3 mitochondrial respiratory chain complex I GO:0005747 9.56 MT-ND1 MT-ND2 MT-ND4 MT-ND5
4 mitochondrial respiratory chain complex IV GO:0005751 9.5 MT-CO1 MT-CO2 MT-CO3
5 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.46 MT-ATP6 MT-ATP8
6 respiratory chain GO:0070469 9.43 MT-CO1 MT-CO2 MT-ND1 MT-ND2 MT-ND4 MT-ND5
7 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.4 MT-ATP6 MT-ATP8
8 respiratory chain complex IV GO:0045277 9.33 MT-CO1 MT-CO2 MT-CO3
9 mitochondrial inner membrane GO:0005743 9.28 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1
10 integral component of membrane GO:0016021 10.13 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.8 MT-CO1 MT-CO2 MT-ND1 MT-ND2 MT-ND4 MT-ND5
2 aging GO:0007568 9.69 MT-ATP6 MT-CO1 MT-ND4
3 proton transmembrane transport GO:1902600 9.61 MT-CO1 MT-CO2 MT-CO3
4 cerebellum development GO:0021549 9.55 MT-CO1 MT-ND4
5 ATP biosynthetic process GO:0006754 9.54 MT-ATP6 MT-ATP8
6 aerobic respiration GO:0009060 9.54 MT-CO1 MT-CO3 MT-ND4
7 cristae formation GO:0042407 9.52 MT-ATP6 MT-ATP8
8 ATP synthesis coupled proton transport GO:0015986 9.49 MT-ATP6 MT-ATP8
9 respiratory electron transport chain GO:0022904 9.48 MT-CO1 MT-CO3
10 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.46 MT-ATP6 MT-ATP8
11 mitochondrial respiratory chain complex I assembly GO:0032981 9.46 MT-ND1 MT-ND2 MT-ND4 MT-ND5
12 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.43 MT-CO1 MT-CO2 MT-CO3
13 electron transport coupled proton transport GO:0015990 9.4 MT-CO1 MT-ND4
14 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.26 MT-ND1 MT-ND2 MT-ND4 MT-ND5
15 ATP synthesis coupled electron transport GO:0042773 8.8 MT-CO2 MT-ND4 MT-ND5

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.63 MT-CO1 MT-CO2 MT-ND1 MT-ND2 MT-ND4 MT-ND5
2 cytochrome-c oxidase activity GO:0004129 9.43 MT-CO1 MT-CO2 MT-CO3
3 proton transmembrane transporter activity GO:0015078 9.32 MT-ATP6 MT-ATP8
4 NADH dehydrogenase activity GO:0003954 9.13 MT-ND1 MT-ND4 MT-ND5
5 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.92 MT-ND1 MT-ND2 MT-ND4 MT-ND5

Sources for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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