DFNM
MCID: DFN349
MIFTS: 32

Deafness, Nonsyndromic Sensorineural, Mitochondrial (DFNM)

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Deafness, Nonsyndromic Sensorineural, Mitochondrial

MalaCards integrated aliases for Deafness, Nonsyndromic Sensorineural, Mitochondrial:

Name: Deafness, Nonsyndromic Sensorineural, Mitochondrial 57 38
Mitochondrial Non-Syndromic Sensorineural Hearing Loss 58 28 5
Mitochondrial Non-Syndromic Neurosensory Hearing Loss 58
Mitochondrial Non-Syndromic Sensorineural Deafness 58
Mitochondrial Nonsyndromic Sensorineural Deafness 11
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 73
Dfnm 73

Characteristics:


Inheritance:

Mitochondrial Non-Syndromic Sensorineural Deafness: Mitochondrial inheritance 58

Age Of Onset:

Mitochondrial Non-Syndromic Sensorineural Deafness: Childhood,Infancy 58

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 11 DOID:0111751
OMIM® 57 500008
MeSH 43 D006319
ICD10 via Orphanet 32 H90.3
UMLS via Orphanet 72 C1857332
Orphanet 58 ORPHA90641
MedGen 40 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 08-Dec-2022)

MalaCards based summary: Deafness, Nonsyndromic Sensorineural, Mitochondrial, also known as mitochondrial non-syndromic sensorineural hearing loss, is related to sensorineural hearing loss and mesocestoidiasis. An important gene associated with Deafness, Nonsyndromic Sensorineural, Mitochondrial is MT-CO1 (Mitochondrially Encoded Cytochrome C Oxidase I).

UniProtKB/Swiss-Prot: 73 A form of non-syndromic deafness with maternal inheritance. Affected individuals manifest progressive, postlingual, sensorineural hearing loss involving high frequencies.

Disease Ontology: 11 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.

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 61)
# Related Disease Score Top Affiliating Genes
1 sensorineural hearing loss 29.9 POU3F4 MT-TS1 MT-RNR1 MT-CO1
2 mesocestoidiasis 10.2 MT-ND1 MT-CO1
3 keratoderma, palmoplantar, with deafness 10.2 MT-TS1 MT-CO1
4 echinostomiasis 10.2 MT-ND1 MT-CO1
5 diphyllobothriasis 10.2 MT-ND1 MT-CO1
6 polycystic echinococcosis 10.2 MT-ND1 MT-CO1
7 cystic echinococcosis 10.2 MT-ND1 MT-CO1
8 parathyroid oncocytic adenoma 10.1 MT-ND1 MT-CO1
9 myiasis 10.1 MT-ND1 MT-CO1
10 alveolar echinococcosis 10.1 MT-ND1 MT-CO1
11 dicrocoeliasis 10.1 MT-TS1 MT-ND1
12 taeniasis 10.1 MT-ND1 MT-CO1
13 cysticercosis 10.1 MT-ND1 MT-CO1
14 fascioliasis 10.1 MT-ND1 MT-CO1
15 pediculus humanus capitis infestation 10.1 MT-ND4 MT-CO1
16 pediculus humanus corporis infestation 10.0 MT-ND4 MT-CO1
17 parasitic helminthiasis infectious disease 10.0 MT-ND1 MT-CO1
18 toxascariasis 10.0 MT-ND4 MT-ND1
19 vestibular disease 10.0 POU3F4 MT-RNR1
20 mitochondrial dna-associated leigh syndrome 10.0 MT-ND4 MT-ND1
21 waardenburg syndrome, type 1 10.0 POU3F4 MT-RNR1
22 stuttering 10.0 MT-TH MT-CO1
23 mitochondrial complex i deficiency, nuclear type 16 10.0 MT-ND4 MT-ND1
24 pontocerebellar hypoplasia, type 1e 10.0 MT-RNR1 MT-ND1
25 leber optic atrophy and dystonia 10.0 MT-ND4 MT-ND1
26 pearson marrow-pancreas syndrome 9.9 MT-ND4 MT-ND1
27 scotoma 9.9 MT-ND4 MT-ND1
28 x-linked nonsyndromic deafness 9.9 POU3F4 MT-TS1 MT-RNR1
29 pendred syndrome 9.9 POU3F4 MT-TS1 MT-RNR1
30 mitochondrial myopathy, infantile, transient 9.9 TRMU MT-ND1 MT-CO1
31 autosomal dominant nonsyndromic deafness 9.9 POU3F4 MT-TS1 MT-RNR1
32 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.9 POU3F4 MT-TS1 MT-RNR1
33 cortical blindness 9.9 MT-ND4 MT-ND1
34 neuropathy 9.9 MT-ND4 MT-ND1 MT-CO1
35 coenurosis 9.9 MT-ND4 MT-ND1 MT-CO1
36 ancylostomiasis 9.9 MT-ND4 MT-ND1 MT-CO1
37 mitochondrial metabolism disease 9.9 MT-ND4 MT-ND1
38 sparganosis 9.9 MT-ND4 MT-ND1 MT-CO1
39 chronic progressive external ophthalmoplegia 9.9 MT-ND4 MT-ND1 MT-CO1
40 mitochondrial dna depletion syndrome 9.8 MT-ND4 MT-ND1 MT-CO1
41 optic nerve disease 9.8 MT-ND4 MT-ND1 MT-CO1
42 cranial nerve disease 9.7 MT-ND4 MT-ND1
43 mitochondrial dna depletion syndrome 4a 9.7 TRMU MT-ND4 MT-ND1
44 rare genetic deafness 9.7 POU3F4 MT-TS1 MT-RNR1 MT-ND1
45 auditory system disease 9.7 POU3F4 MT-RNR1
46 mitochondrial dna depletion syndrome 4b 9.7 TRMU TFB1M
47 leber plus disease 9.7 MT-TS1 MT-ND4 MT-ND1 MT-CO1
48 lactic acidosis 9.6 TRMU MT-ND4 MT-ND1 MT-CO1
49 mitochondrial complex i deficiency, nuclear type 1 9.6 TRMU MT-ND4 MT-ND1 MT-CO1
50 early myoclonic encephalopathy 9.6 TRMU MT-TS1 MT-ND4 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 (Updated 08-Dec-2022)

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 Mitochondrial Non-Syndromic Sensorineural Hearing Loss 28 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 71)
# 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. 57 5
21931169 2011
2
A mutation in mitochondrial 12S rRNA, A827G, in Argentinean family with hearing loss after aminoglycoside treatment. 57 5
18261986 2008
3
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. 57 5
17341440 2007
4
Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene. 57 5
16631122 2006
5
Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family. 57 5
16650816 2006
6
Audiovestibular findings in patients with mitochondrial A1555G mutation. 57 5
14755216 2004
7
Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation. 57 5
11175301 2001
8
Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. 57 5
10577941 1999
9
Maternally inherited nonsyndromic hearing loss. 57 5
10340654 1999
10
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. 57 5
10371545 1999
11
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. 57 5
8019558 1994
12
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. 57 5
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. 5
28049726 2017
14
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. 5
22241583 2012
15
Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family. 5
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. 5
18983818 2008
17
Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients. 5
18790089 2008
18
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip. 5
17637808 2007
19
Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss. 5
17659260 2007
20
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. 5
16826519 2006
21
Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity. 5
16782057 2006
22
A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. 5
16528519 2006
23
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment. 5
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. 5
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. 5
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. 5
16152638 2005
27
Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. 5
15708009 2005
28
Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation. 5
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. 5
15555598 2004
30
Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss. 5
15286157 2004
31
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. 5
14681830 2004
32
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. 5
12939650 2003
33
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. 5
12920080 2003
34
Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. 5
12655418 2003
35
Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family. 5
12624722 2003
36
Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia. 5
12955586 2003
37
Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor. 5
12461693 2002
38
The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs. 5
12372057 2002
39
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction. 5
11378827 2001
40
Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. 5
11388757 2001
41
Maternally inherited deafness associated with a T1095C mutation in the mDNA. 5
11313749 2001
42
A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. 5
11079536 2000
43
Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome. 5
11069477 2000
44
A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment. 5
10978361 2000
45
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. 5
10915767 2000
46
Candidate locus for a nuclear modifier gene for maternally inherited deafness. 5
10788333 2000
47
Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids. 5
10545608 1999
48
The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness. 5
10521300 1999
49
Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. 5
9915970 1999
50
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene. 5
10094190 1999

Variations for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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

5 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-ND1 m.3388C>A SNV Pathogenic
29998 rs387906730 GRCh37: MT:3388-3388
GRCh38: MT:3388-3388
2 MT-TH m.12201T>C SNV Pathogenic
30004 rs387906733 GRCh37: MT:12201-12201
GRCh38: MT:12201-12201
3 MT-RNR1 NC_012920.1:m.827A>G SNV Pathogenic
9634 rs28358569 GRCh37: MT:827-827
GRCh38: MT:827-827
4 MT-TS1, MT-CO1 m.7445A>C SNV Pathogenic
9568 rs199474818 GRCh37: MT:7445-7445
GRCh38: MT:7445-7445
5 MT-TS1, MT-CO1 NC_012920.1:m.7443A>G SNV Pathogenic
40158 rs397507452 GRCh37: MT:7443-7443
GRCh38: MT:7443-7443
6 MT-TS1, MT-CO1 NC_012920.1:m.7445A>T SNV Pathogenic
631469 rs199474818 GRCh37: MT:7445-7445
GRCh38: MT:7445-7445
7 MT-TS1, MT-CO1 NC_012920.1:m.7444G>A SNV Pathogenic
9663 rs199474822 GRCh37: MT:7444-7444
GRCh38: MT:7444-7444
8 MT-TS1 NC_012920.1:m.7505T>C SNV Pathogenic
40885 rs724159989 GRCh37: MT:7505-7505
GRCh38: MT:7505-7505
9 MT-TS1, MT-CO1 NC_012920.1:m.7445A>G SNV Pathogenic
9563 rs199474818 GRCh37: MT:7445-7445
GRCh38: MT:7445-7445
10 MT-TS1 m.7510T>C SNV Pathogenic
9565 rs199474820 GRCh37: MT:7510-7510
GRCh38: MT:7510-7510
11 MT-TS1 m.7511T>C SNV Pathogenic
9566 rs199474821 GRCh37: MT:7511-7511
GRCh38: MT:7511-7511
12 MT-ND1, MT-RNR1 NC_012920.1:m.1555A>G SNV Pathogenic
Pathogenic
9628 rs267606617 GRCh37: MT:1555-1555
GRCh38: MT:1555-1555
13 MT-RNR1 m.1095T>C SNV Pathogenic
9631 rs267606618 GRCh37: MT:1095-1095
GRCh38: MT:1095-1095
14 MT-TS1, MT-RNR1 NC_012920.1:m.1494C>T SNV Pathogenic
9632 rs267606619 GRCh37: MT:1494-1494
GRCh38: MT:1494-1494
15 MT-TI m.4295A>G SNV Pathogenic
9603 rs121434467 GRCh37: MT:4295-4295
GRCh38: MT:4295-4295
16 MT-TS1 NC_012920.1:m.7471dup DUP Pathogenic
42226 rs111033319 GRCh37: MT:7465-7466
GRCh38: MT:7465-7466
17 MT-RNR1 m.1291T>C SNV Pathogenic
9630 rs267606620 GRCh37: MT:1291-1291
GRCh38: MT:1291-1291
18 MT-RNR1 m.961T>G SNV Conflicting Interpretations Of Pathogenicity
9633 rs3888511 GRCh37: MT:961-961
GRCh38: MT:961-961
19 MT-RNR1 m.961_962delTinsC(n) INDEL Uncertain Significance
139642 GRCh37: MT:961-962
GRCh38: MT:961-962
20 MT-TS1 NC_012920.1:m.7462C>T SNV Not Provided
631470 rs1569484151 GRCh37: MT:7462-7462
GRCh38: MT:7462-7462

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 mitochondrial membrane GO:0031966 9.26 MT-ND4 MT-ND1 MT-CO1
2 respirasome 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 aerobic respiration GO:0009060 9.43 MT-ND4 MT-ND1 MT-CO1
2 electron transport coupled proton transport GO:0015990 8.92 MT-ND4 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 9.46 MT-ND4 MT-ND1
2 triplet codon-amino acid adaptor activity GO:0030533 8.96 MT-TS1 MT-TH
3 NADH dehydrogenase activity GO:0003954 8.92 MT-ND4 MT-ND1

Sources for Deafness, Nonsyndromic Sensorineural, Mitochondrial

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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