DFNM
MCID: DFN349
MIFTS: 27

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 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 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 Serine 1 (UCN)), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include temporal lobe.

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 all 48)
# Related Disease Score Top Affiliating Genes
1 sideroblastic anemia 10.2 MT-ATP6 MT-CO1
2 periodic paralysis with later-onset distal motor neuropathy 10.2 MT-ATP6 MT-ATP8
3 genetic recurrent myoglobinuria 10.2 MT-CO1 MT-CO3
4 myoglobinuria 10.2 MT-CO1 MT-CO3
5 isolated atp synthase deficiency 10.2 MT-ATP6 MT-ATP8
6 epilepsy, familial temporal lobe, 2 10.1 MT-CO1 MT-CO3
7 coenurosis 10.1 MT-CO1 MT-ND1
8 sparganosis 10.1 MT-CO1 MT-ND4
9 myasthenic syndrome, congenital, 10 10.1 MT-CO1 MT-CO2
10 taeniasis 10.1 MT-CO1 MT-ND1
11 leber optic atrophy and dystonia 10.1 MT-ND1 MT-ND4
12 myiasis 10.1 MT-CO1 MT-ND5
13 cystic echinococcosis 10.1 MT-ATP6 MT-CO1 MT-ND1
14 echinococcosis 10.1 MT-ATP6 MT-CO1 MT-ND1
15 alzheimer disease mitochondrial 10.1 MT-ND1 MT-ND2
16 cercarial dermatitis 10.0 MT-ATP8 MT-CO1 MT-ND4
17 gaucher disease, type iii 10.0 MT-CO2 MT-CO3
18 diphyllobothriasis 10.0 MT-ATP8 MT-CO1 MT-ND5
19 parasitic helminthiasis infectious disease 10.0 MT-CO1 MT-ND1
20 sideroblastic anemia acquired 10.0 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2
21 cardiomyopathy, infantile hypertrophic 10.0 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3
22 mitochondrial dna depletion syndrome 1 10.0 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3
23 parasitic protozoa infectious disease 10.0 MT-CO1 MT-CO2
24 striatonigral degeneration, infantile 9.9 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
25 striatonigral degeneration, infantile, mitochondrial 9.9 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
26 myopathy, lactic acidosis, and sideroblastic anemia 3 9.9 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
27 myopathy, lactic acidosis, and sideroblastic anemia 9.9 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
28 ataxia and polyneuropathy, adult-onset 9.9 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
29 mitochondrial complex iv deficiency 9.9 MT-CO1 MT-CO2 MT-CO3 MT-ND4
30 cranial nerve disease 9.9 MT-ND1 MT-ND4 MT-ND5
31 neuropathy 9.8 MT-ATP6 MT-ND1 MT-ND4 MT-ND5
32 mitochondrial metabolism disease 9.8 MT-ATP6 MT-CO2 MT-ND4 MT-ND5
33 optic nerve disease 9.8 MT-ATP6 MT-ND1 MT-ND4 MT-ND5
34 mitochondrial complex i deficiency 9.7 MT-CO1 MT-ND1 MT-ND2 MT-ND4 MT-ND5
35 nonsyndromic deafness 9.6 MT-ND1 MT-RNR1 MT-TS1
36 deafness, aminoglycoside-induced 9.6 MT-CO1 MT-ND4 MT-RNR1 MT-TS1
37 lactic acidosis 9.6 MT-ATP6 MT-CO1 MT-CO3 MT-ND1 MT-ND4 MT-ND5
38 mitochondrial non-syndromic sensorineural deafness 9.6 MT-CO1 MT-RNR1 MT-TH MT-TS1
39 retinitis pigmentosa 9.6 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 MT-ND4 MT-ND5
40 familial colorectal cancer 9.5 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND4
41 leber hereditary optic neuropathy 9.5 MT-ATP6 MT-CO1 MT-CO3 MT-ND1 MT-ND2 MT-ND4
42 kearns-sayre syndrome 9.4 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-ND1 MT-ND2
43 myoclonic epilepsy associated with ragged-red fibers 9.3 MT-ND4 MT-ND5 MT-RNR1 MT-TH MT-TS1
44 mitochondrial encephalomyopathy 9.3 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2
45 leber optic atrophy 9.2 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1
46 leigh syndrome 9.2 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1
47 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4
48 mitochondrial myopathy 9.0 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-TS1

Anatomical Context for Deafness, Nonsyndromic Sensorineural, Mitochondrial

MalaCards organs/tissues related to Deafness, Nonsyndromic Sensorineural, Mitochondrial:

41
Temporal Lobe

Publications for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Variations for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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

6 (show all 36)
# 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-TI m.4295A> G single nucleotide variant Uncertain significance rs121434467 GRCh37 Chromosome MT, 4295: 4295
10 MT-TI m.4295A> G single nucleotide variant Uncertain significance rs121434467 GRCh38 Chromosome MT, 4295: 4295
11 MT-CO1; MT-RNR1 m.1555A> G single nucleotide variant drug response rs267606617 GRCh37 Chromosome MT, 1555: 1555
12 MT-CO1; MT-RNR1 m.1555A> G single nucleotide variant drug response rs267606617 GRCh38 Chromosome MT, 1555: 1555
13 MT-RNR1 m.1291T> C single nucleotide variant Likely benign rs267606620 GRCh37 Chromosome MT, 1291: 1291
14 MT-RNR1 m.1291T> C single nucleotide variant Likely benign rs267606620 GRCh38 Chromosome MT, 1291: 1291
15 MT-RNR1 m.1095T> C single nucleotide variant drug response rs267606618 GRCh37 Chromosome MT, 1095: 1095
16 MT-RNR1 m.1095T> C single nucleotide variant drug response rs267606618 GRCh38 Chromosome MT, 1095: 1095
17 MT-RNR1 m.1494C> T single nucleotide variant drug response rs267606619 GRCh37 Chromosome MT, 1494: 1494
18 MT-RNR1 m.1494C> T single nucleotide variant drug response rs267606619 GRCh38 Chromosome MT, 1494: 1494
19 MT-RNR1 m.961T> G single nucleotide variant Likely benign rs3888511 GRCh37 Chromosome MT, 961: 961
20 MT-RNR1 m.961T> G single nucleotide variant Likely benign rs3888511 GRCh38 Chromosome MT, 961: 961
21 MT-RNR1 m.827A> G single nucleotide variant Pathogenic rs28358569 GRCh37 Chromosome MT, 827: 827
22 MT-RNR1 m.827A> G single nucleotide variant Pathogenic rs28358569 GRCh38 Chromosome MT, 827: 827
23 MT-CO1; MT-TS1 m.7444G> A single nucleotide variant Pathogenic rs199474822 GRCh37 Chromosome MT, 7444: 7444
24 MT-CO1; MT-TS1 m.7444G> A single nucleotide variant Pathogenic rs199474822 GRCh38 Chromosome MT, 7444: 7444
25 MT-ND1 m.3388C> A single nucleotide variant Pathogenic rs387906730 GRCh38 Chromosome MT, 3388: 3388
26 MT-ND1 m.3388C> A single nucleotide variant Pathogenic rs387906730 GRCh37 Chromosome MT, 3388: 3388
27 MT-TH m.12201T> C single nucleotide variant Pathogenic rs387906733 GRCh38 Chromosome MT, 12201: 12201
28 MT-TH m.12201T> C single nucleotide variant Pathogenic rs387906733 GRCh37 Chromosome MT, 12201: 12201
29 MT-TS1 m.7443A> G single nucleotide variant Pathogenic rs397507452 GRCh38 Chromosome MT, 7443: 7443
30 MT-TS1 m.7443A> G single nucleotide variant Pathogenic rs397507452 GRCh37 Chromosome MT, 7443: 7443
31 MT-TS1 NC_012920.1: m.7505T> C single nucleotide variant Pathogenic rs724159989 GRCh37 Chromosome MT, 7505: 7505
32 MT-TS1 NC_012920.1: m.7505T> C single nucleotide variant Pathogenic rs724159989 GRCh38 Chromosome MT, 7505: 7505
33 MT-TS1 m.7471_7472insC duplication Pathogenic rs111033319 GRCh37 Chromosome MT, 7471: 7471
34 MT-TS1 m.7471_7472insC duplication Pathogenic rs111033319 GRCh38 Chromosome MT, 7471: 7471
35 MT-RNR1 NC_012920.1: m.1027A> G single nucleotide variant Likely pathogenic rs727504555 GRCh38 Chromosome MT, 1027: 1027
36 MT-RNR1 NC_012920.1: m.1027A> G single nucleotide variant Likely pathogenic rs727504555 GRCh37 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 9.63 MT-ATP8 MT-ND1 MT-ND4
3 mitochondrial respiratory chain complex IV GO:0005751 9.5 MT-CO1 MT-CO2 MT-CO3
4 mitochondrial respiratory chain complex I GO:0005747 9.46 MT-ND1 MT-ND2 MT-ND4 MT-ND5
5 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.43 MT-ATP6 MT-ATP8
6 respiratory chain complex IV GO:0045277 9.43 MT-CO1 MT-CO2 MT-CO3
7 respiratory chain GO:0070469 9.43 MT-CO1 MT-CO2 MT-ND1 MT-ND2 MT-ND4 MT-ND5
8 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.4 MT-ATP6 MT-ATP8
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 14)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.85 MT-CO1 MT-CO2 MT-ND1 MT-ND2 MT-ND4 MT-ND5
2 aging GO:0007568 9.67 MT-ATP6 MT-CO1 MT-ND4
3 proton transmembrane transport GO:1902600 9.61 MT-CO1 MT-CO2 MT-CO3
4 mitochondrial respiratory chain complex I assembly GO:0032981 9.56 MT-ND1 MT-ND2 MT-ND4 MT-ND5
5 cerebellum development GO:0021549 9.54 MT-CO1 MT-ND4
6 cristae formation GO:0042407 9.52 MT-ATP6 MT-ATP8
7 ATP biosynthetic process GO:0006754 9.51 MT-ATP6 MT-ATP8
8 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.5 MT-CO1 MT-CO2 MT-CO3
9 ATP synthesis coupled proton transport GO:0015986 9.48 MT-ATP6 MT-ATP8
10 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.46 MT-ATP6 MT-ATP8
11 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.46 MT-ND1 MT-ND2 MT-ND4 MT-ND5
12 electron transport coupled proton transport GO:0015990 9.4 MT-CO1 MT-ND4
13 ATP synthesis coupled electron transport GO:0042773 9.13 MT-CO2 MT-ND4 MT-ND5
14 aerobic respiration GO:0009060 8.92 MT-CO1 MT-CO3 MT-ND1 MT-ND4

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....