DFNM
MCID: DFN349
MIFTS: 34

Deafness, Nonsyndromic Sensorineural, Mitochondrial (DFNM)

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Nonsyndromic Sensorineural, Mitochondrial

MalaCards integrated aliases for Deafness, Nonsyndromic Sensorineural, Mitochondrial:

Name: Deafness, Nonsyndromic Sensorineural, Mitochondrial 57 29 6 39
Mitochondrial Non-Syndromic Sensorineural Hearing Loss 58
Mitochondrial Non-Syndromic Neurosensory Hearing Loss 58
Mitochondrial Non-Syndromic Sensorineural Deafness 58
Mitochondrial Nonsyndromic Sensorineural Deafness 12
Isolated Mitochondrial Sensorineural Hearing Loss 58
Mitochondrial Non-Syndromic Neurosensory Deafness 58
Isolated Mitochondrial Neurosensory Hearing Loss 58
Isolated Mitochondrial Sensorineural Deafness 58
Isolated Mitochondrial Neurosensory Deafness 58
Deafness, Sensorineural, Mitochondrial 72
Dfnm 72

Characteristics:

Orphanet epidemiological data:

58
mitochondrial non-syndromic sensorineural deafness
Inheritance: Mitochondrial inheritance; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111751
OMIM® 57 500008
MeSH 44 D006319
ICD10 via Orphanet 33 H90.3
UMLS via Orphanet 71 C1857332
Orphanet 58 ORPHA90641
MedGen 41 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) (Updated 05-Apr-2021)

MalaCards based summary : Deafness, Nonsyndromic Sensorineural, Mitochondrial, also known as mitochondrial non-syndromic sensorineural hearing loss, is related to sensorineural hearing loss and diffuse palmoplantar keratoderma. An important gene associated with Deafness, Nonsyndromic Sensorineural, Mitochondrial is MT-TS1 (Mitochondrially Encoded TRNA-Ser (UCN) 1), and among its related pathways/superpathways is tRNA Aminoacylation.

Disease Ontology : 12 A sensorineural hearing loss that has material basis in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI.

UniProtKB/Swiss-Prot : 72 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 66)
# Related Disease Score Top Affiliating Genes
1 sensorineural hearing loss 29.9 POU3F4 MT-TS1 MT-RNR1 MT-CO1
2 diffuse palmoplantar keratoderma 10.2 MT-TS1 MT-CO1
3 keratoderma, palmoplantar, with deafness 10.2 MT-TS1 MT-CO1
4 branchiootic syndrome 1 10.2
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
6 diphyllobothriasis 10.2 MT-ND1 MT-CO1
7 polycystic echinococcosis 10.2 MT-ND1 MT-CO1
8 cystic echinococcosis 10.2 MT-ND1 MT-CO1
9 echinococcosis 10.2 MT-ND1 MT-CO1
10 dicrocoeliasis 10.2 MT-TS1 MT-ND1
11 myiasis 10.2 MT-ND1 MT-CO1
12 thelaziasis 10.2 MT-ND1 MT-CO1
13 taeniasis 10.1 MT-ND1 MT-CO1
14 myasthenic syndrome, congenital, 10 10.1 MT-TH MT-CO1
15 cysticercosis 10.1 MT-ND1 MT-CO1
16 endometrial stromal tumor 10.1 MT-TH MT-CO1
17 fascioliasis 10.1 MT-ND1 MT-CO1
18 retinitis pigmentosa 12 10.1 MT-TI MT-TH
19 noonan syndrome 2 10.1 MT-TI MT-TH
20 cercarial dermatitis 10.1 MT-ND4 MT-CO1
21 hereditary optic neuropathy 10.1 MT-ND4 MT-ND1
22 pediculus humanus corporis infestation 10.1 MT-ND4 MT-CO1
23 parasitic helminthiasis infectious disease 10.0 MT-ND1 MT-CO1
24 mitochondrial dna-associated leigh syndrome 10.0 MT-ND4 MT-ND1
25 mitochondrial dna-associated leigh syndrome and narp 10.0 MT-ND4 MT-ND1
26 leber optic atrophy and dystonia 10.0 MT-ND4 MT-ND1
27 x-linked nonsyndromic deafness 10.0 POU3F4 MT-TS1 MT-RNR1
28 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.0 POU3F4 MT-TS1 MT-RNR1
29 autosomal dominant nonsyndromic deafness 10.0 POU3F4 MT-TS1 MT-RNR1
30 deafness, autosomal recessive 26 9.9 TFB1M MT-RNR1
31 mitochondrial metabolism disease 9.9 MT-ND4 MT-ND1
32 pearson marrow-pancreas syndrome 9.9 TRMU MT-ND4
33 stuttering 9.9 MT-TH MT-CO1
34 mitochondrial dna depletion syndrome 4a 9.9 TRMU MT-ND1
35 cortical blindness 9.9 MT-ND4 MT-ND1
36 rare genetic deafness 9.9 POU3F4 MT-TS1 MT-RNR1
37 mitochondrial myopathy, infantile, transient 9.9 TRMU MT-ND1 MT-CO1
38 auditory system disease 9.9 POU3F4 MT-RNR1
39 coenurosis 9.9 MT-ND4 MT-ND1 MT-CO1
40 sparganosis 9.9 MT-ND4 MT-ND1 MT-CO1
41 baylisascariasis 9.9 MT-ND4 MT-ND1 MT-CO1
42 cranial nerve disease 9.8 MT-ND4 MT-ND1
43 optic nerve disease 9.8 MT-ND4 MT-ND1 MT-CO1
44 nonsyndromic hearing loss and deafness, mitochondrial 9.8 TRMU MT-TS1 MT-RNR1 MT-CO1
45 mitochondrial complex i deficiency, nuclear type 1 9.8 MT-ND4 MT-ND1 MT-CO1
46 pendred syndrome 9.7 POU3F4 MT-RNR1
47 3-methylglutaconic aciduria, type iii 9.7 MT-ND4 MT-ND1 MT-CO1
48 neuropathy 9.7 MT-RNR1 MT-ND4 MT-ND1 MT-CO1
49 leber plus disease 9.7 MT-TS1 MT-ND4 MT-ND1 MT-CO1
50 chronic progressive external ophthalmoplegia 9.6 MT-TI MT-ND4 MT-ND1 MT-CO1

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 (Updated 05-Apr-2021)

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. 6 57
21931169 2011
2
A mutation in mitochondrial 12S rRNA, A827G, in Argentinean family with hearing loss after aminoglycoside treatment. 6 57
18261986 2008
3
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. 6 57
17341440 2007
4
Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene. 6 57
16631122 2006
5
Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family. 57 6
16650816 2006
6
Audiovestibular findings in patients with mitochondrial A1555G mutation. 6 57
14755216 2004
7
Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation. 57 6
11175301 2001
8
Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. 6 57
10577941 1999
9
Maternally inherited nonsyndromic hearing loss. 57 6
10340654 1999
10
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. 6 57
10371545 1999
11
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. 57 6
8019558 1994
12
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. 6 57
7689389 1993
13
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. 6
28049726 2017
14
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. 6
22241583 2012
15
Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss. 6
20722495 2010
16
Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family. 6
20153673 2010
17
Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients. 6
18790089 2008
18
Co-segregation of the T1095C with the A1555G mutation of the mitochondrial 12S rRNA gene in a patient with non-syndromic hearing loss. 6
18983818 2008
19
Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss. 6
18639500 2008
20
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip. 6
17637808 2007
21
Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss. 6
17659260 2007
22
Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity. 6
16782057 2006
23
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. 6
16826519 2006
24
A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. 6
16528519 2006
25
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment. 6
16458854 2006
26
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness. 6
16375862 2006
27
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. 6
16380089 2006
28
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. 6
16152638 2005
29
Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. 6
15708009 2005
30
Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation. 6
15637703 2005
31
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. 6
15292920 2005
32
Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation. 6
15555598 2004
33
Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss. 6
15286157 2004
34
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. 6
14681830 2004
35
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. 6
12939650 2003
36
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. 6
12920080 2003
37
Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. 6
12655418 2003
38
Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family. 6
12624722 2003
39
Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia. 6
12955586 2003
40
Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor. 6
12461693 2002
41
Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene. 6
12471220 2002
42
The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs. 6
12372057 2002
43
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction. 6
11378827 2001
44
Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. 6
11388757 2001
45
Maternally inherited deafness associated with a T1095C mutation in the mDNA. 6
11313749 2001
46
A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. 6
11079536 2000
47
Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome. 6
11069477 2000
48
A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment. 6
10978361 2000
49
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. 6
10915767 2000
50
Candidate locus for a nuclear modifier gene for maternally inherited deafness. 6
10788333 2000

Variations for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-RNR1 m.1095T>C SNV Pathogenic 9631 rs267606618 GRCh37: MT:1095-1095
GRCh38: MT:1095-1095
2 MT-RNR1 NC_012920.1:m.827A>G SNV Pathogenic 9634 rs28358569 GRCh37: MT:827-827
GRCh38: MT:827-827
3 MT-TS1 , MT-CO1 NC_012920.1:m.7444G>A SNV Pathogenic 9663 rs199474822 GRCh37: MT:7444-7444
GRCh38: MT:7444-7444
4 MT-ND1 m.3388C>A SNV Pathogenic 29998 rs387906730 GRCh37: MT:3388-3388
GRCh38: MT:3388-3388
5 MT-TI m.4295A>G SNV Pathogenic 9603 rs121434467 GRCh37: MT:4295-4295
GRCh38: MT:4295-4295
6 MT-TS1 , MT-CO1 NC_012920.1:m.7445A>G SNV Pathogenic 9563 rs199474818 GRCh37: MT:7445-7445
GRCh38: MT:7445-7445
7 MT-TS1 m.7510T>C SNV Pathogenic 9565 rs199474820 GRCh37: MT:7510-7510
GRCh38: MT:7510-7510
8 MT-TS1 m.7511T>C SNV Pathogenic 9566 rs199474821 GRCh37: MT:7511-7511
GRCh38: MT:7511-7511
9 MT-RNR1 NC_012920.1:m.1555A>G SNV Pathogenic 9628 rs267606617 GRCh37: MT:1555-1555
GRCh38: MT:1555-1555
10 MT-TS1 , MT-RNR1 NC_012920.1:m.1494C>T SNV Pathogenic 9632 rs267606619 GRCh37: MT:1494-1494
GRCh38: MT:1494-1494
11 MT-RNR1 NC_012920.1:m.1555A>G SNV Pathogenic 9628 rs267606617 GRCh37: MT:1555-1555
GRCh38: MT:1555-1555
12 MT-TS1 NC_012920.1:m.7471dup Duplication Pathogenic 42226 rs111033319 GRCh37: MT:7465-7466
GRCh38: MT:7465-7466
13 MT-RNR1 m.1291T>C SNV Pathogenic 9630 rs267606620 GRCh37: MT:1291-1291
GRCh38: MT:1291-1291
14 MT-TS1 NC_012920.1:m.7505T>C SNV Pathogenic 40885 rs724159989 GRCh37: MT:7505-7505
GRCh38: MT:7505-7505
15 MT-TS1 NC_012920.1:m.7462C>T SNV Pathogenic 631470 rs1569484151 GRCh37: MT:7462-7462
GRCh38: MT:7462-7462
16 MT-TS1 , MT-CO1 m.7445A>C SNV Pathogenic 9568 rs199474818 GRCh37: MT:7445-7445
GRCh38: MT:7445-7445
17 MT-TS1 , MT-CO1 NC_012920.1:m.7445A>T SNV Pathogenic 631469 rs199474818 GRCh37: MT:7445-7445
GRCh38: MT:7445-7445
18 MT-TH m.12201T>C SNV Pathogenic 30004 rs387906733 GRCh37: MT:12201-12201
GRCh38: MT:12201-12201
19 MT-TS1 , MT-CO1 NC_012920.1:m.7443A>G SNV Pathogenic 40158 rs397507452 GRCh37: MT:7443-7443
GRCh38: MT:7443-7443
20 MT-RNR1 m.961T>G SNV Conflicting interpretations of pathogenicity 9633 rs3888511 GRCh37: MT:961-961
GRCh38: MT:961-961
21 MT-RNR1 m.961_962delTinsC(n) Indel Uncertain significance 139642 GRCh37: MT:961-962
GRCh38: MT:961-962

Expression for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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

Pathways for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.04 MT-TS1 MT-TI MT-TH

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 9.35 TRMU TFB1M MT-ND4 MT-ND1 MT-CO1
2 mitochondrial respiratory chain complex I GO:0005747 9.16 MT-ND4 MT-ND1
3 respiratory chain GO:0070469 8.8 MT-ND4 MT-ND1 MT-CO1

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex I assembly GO:0032981 9.32 MT-ND4 MT-ND1
2 cerebellum development GO:0021549 9.26 MT-ND4 MT-CO1
3 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.16 MT-ND4 MT-ND1
4 electron transport coupled proton transport GO:0015990 8.96 MT-ND4 MT-CO1
5 aerobic respiration GO:0009060 8.8 MT-ND4 MT-ND1 MT-CO1

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

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.96 MT-ND4 MT-ND1
2 NADH dehydrogenase activity GO:0003954 8.62 MT-ND4 MT-ND1

Sources for Deafness, Nonsyndromic Sensorineural, Mitochondrial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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