Deafness, Nonsyndromic Sensorineural, Mitochondrial disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

DFNM MCID: DFN349 MIFTS: 34	Deafness, Nonsyndromic Sensorineural, Mitochondrial (DFNM) Categories: Ear diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Expand all tables

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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 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:

MalaCards categories:
Global: Metabolic diseases Rare diseases Genetic diseases
Anatomical: Ear diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the ear and mastoid process

Other disorders of ear

Conductive and sensorineural hearing loss

Sensorineural hearing loss, bilateral

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

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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.

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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:

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Symptoms & Phenotypes for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Clinical features from OMIM®:

500008 (Updated 05-Apr-2021)

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Drugs & Therapeutics for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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

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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

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Anatomical Context for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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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	Yan X...Guan MX	21931169	2011
2	A mutation in mitochondrial 12S rRNA, A827G, in Argentinean family with hearing loss after aminoglycoside treatment. ⁶ ⁵⁷	Chaig MR...Gerez NM	18261986	2008
3	Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. ⁶ ⁵⁷	Tang X...Guan MX	17341440	2007
4	Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene. ⁶ ⁵⁷	Bravo O...Estivill X	16631122	2006
5	Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family. ⁵⁷ ⁶	Xing G...Cao X	16650816	2006
6	Audiovestibular findings in patients with mitochondrial A1555G mutation. ⁶ ⁵⁷	Noguchi Y...Kitamura K	14755216	2004
7	Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation. ⁵⁷ ⁶	Hutchin TP...Mueller RF	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	Pandya A...Nance WE	10577941	1999
9	Maternally inherited nonsyndromic hearing loss. ⁵⁷ ⁶	Friedman RA...Fischel-Ghodsian N	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	Sue CM...Friedman R	10371545	1999
11	A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. ⁵⁷ ⁶	Reid FM...Jacobs HT	8019558	1994
12	Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. ⁶ ⁵⁷	Prezant TR...Rotter JI	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	Meng F...Guan MX	28049726	2017
14	Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. ⁶	Gutierrez Cortes N...Rocher C	22241583	2012
15	Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss. ⁶	Uehara DT...Mingroni-Netto RC	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	Tang X...Guan MX	20153673	2010
17	Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients. ⁶	Konings A...Van Laer L	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	Dai D...Xing G	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	Chen J...Guan MX	18639500	2008
20	Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip. ⁶	Leveque M...Denoyelle F	17637808	2007
21	Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss. ⁶	Jin L...Guan MX	17659260	2007
22	Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity. ⁶	Xing G...Cao X	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	Guan MX...Fischel-Ghodsian N	16826519	2006
24	A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. ⁶	Yao YG...Bandelt HJ	16528519	2006
25	Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment. ⁶	Ballana E...Estivill X	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	Dai P...Guan MX	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	Wang Q...Guan MX	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	Yuan H...Guan MX	16152638	2005
29	Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. ⁶	Young WY...Guan MX	15708009	2005
30	Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation. ⁶	Wang Q...Guan MX	15637703	2005
31	Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. ⁶	Jacobs HT...Mueller RF	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	Zhao L...Guan MX	15555598	2004
33	Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss. ⁶	Li R...Guan MX	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	Zhao H...Guan MX	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	Finnila S...Majamaa K	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	del Castillo FJ...del Castillo I	12920080	2003
37	Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. ⁶	Tekin M...Akar N	12655418	2003
38	Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family. ⁶	Malik S...Marzuki S	12624722	2003
39	Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia. ⁶	Malik SG...Marzuki S	12955586	2003
40	Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor. ⁶	Chapiro E...Marlin S	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	del Castillo FJ...del Castillo I	12471220	2002
42	The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs. ⁶	OStergaard E...Brondum-Nielsen K	12372057	2002
43	Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction. ⁶	Hutchin TP...Mueller RF	11378827	2001
44	Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. ⁶	Bykhovskaya Y...Fischel-Ghodsian N	11388757	2001
45	Maternally inherited deafness associated with a T1095C mutation in the mDNA. ⁶	Tessa A...Santorelli FM	11313749	2001
46	A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. ⁶	Thyagarajan D...DiMauro S	11079536	2000
47	Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome. ⁶	Martin L...Vaillant L	11069477	2000
48	A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment. ⁶	Hutchin TP...Mueller RF	10978361	2000
49	A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. ⁶	Guan MX...Attardi G	10915767	2000
50	Candidate locus for a nuclear modifier gene for maternally inherited deafness. ⁶	Bykhovskaya Y...Fischel-Ghodsian N	10788333	2000

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Genes for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Genes related to Deafness, Nonsyndromic Sensorineural, Mitochondrial (10 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MT-TS1	Mitochondrially Encoded TRNA-Ser (UCN) 1	RNA Gene	858.53	Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	20153673 20301607 24148127
2	MT-CO1	Mitochondrially Encoded Cytochrome C Oxidase I	Protein Coding	858.13	Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	17659260 10577941 18639500 (more) 20301607
3	MT-RNR1	Mitochondrially Encoded 12S RRNA	RNA Gene	758.22	Pathogenic ⁶ Causative germline mutation ⁵⁸ GeneCards inferred via : Variants (show sections)	16458854 20301607 24148127
4	MT-TH	Mitochondrially Encoded TRNA-His (CAU/C)	RNA Gene	757.33	Pathogenic ⁶ Causative germline mutation ⁵⁸ GeneCards inferred via : Variants (show sections)	21931169
5	MT-ND1	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1	Protein Coding	407.33	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	17637808 22241583
6	MT-TI	Mitochondrially Encoded TRNA-Ile (AUU/C)	RNA Gene	407.33	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	8889580
7	POU3F4	POU Class 3 Homeobox 4	Protein Coding	350	Causative germline mutation ⁵⁸	19930154
8	MT-ND4	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4	Protein Coding	25	Candidate gene tested ⁵⁸	17723226
9	TFB1M	Transcription Factor B1, Mitochondrial	Protein Coding	25	Modifying germline mutation ⁵⁸	23510774
10	TRMU	TRNA Mitochondrial 2-Thiouridylase	Protein Coding	25	Modifying germline mutation ⁵⁸	23510774

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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

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Expression for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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

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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	tRNA Aminoacylation ⁶⁵ Show member pathways Aminoacyl-tRNA biosynthesis ³⁶ Cytosolic tRNA aminoacylation ⁶⁵ Mitochondrial tRNA aminoacylation ⁶⁵ Pyrophosphate hydrolysis ⁶⁵ SeMet incorporation into proteins ⁶⁵	11.04	MT-TS1 MT-TI MT-TH

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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

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Sources for Deafness, Nonsyndromic Sensorineural, Mitochondrial

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

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Deafness, Nonsyndromic Sensorineural, Mitochondrial (DFNM)

Aliases & Classifications for Deafness, Nonsyndromic Sensorineural, Mitochondrial

MalaCards integrated aliases for Deafness, Nonsyndromic Sensorineural, Mitochondrial:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Related Diseases for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Diseases in the Deafness, Nonsyndromic Sensorineural, Mitochondrial family:

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

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

Symptoms & Phenotypes for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Clinical features from OMIM®:

Drugs & Therapeutics for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Genetic Tests for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Genetic tests related to Deafness, Nonsyndromic Sensorineural, Mitochondrial:

Anatomical Context for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Publications for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Articles related to Deafness, Nonsyndromic Sensorineural, Mitochondrial:

Genes for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Genes related to Deafness, Nonsyndromic Sensorineural, Mitochondrial (10 elite genes):

Variations for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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

Expression for Deafness, Nonsyndromic Sensorineural, Mitochondrial

Pathways for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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

GO Terms for Deafness, Nonsyndromic Sensorineural, Mitochondrial

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

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

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

Sources for Deafness, Nonsyndromic Sensorineural, Mitochondrial