MCID: NNS007
MIFTS: 38

Nonsyndromic Deafness malady

Categories: Genetic diseases, Ear diseases, Neuronal diseases, Rare diseases, Fetal diseases, Cardiovascular diseases

Aliases & Classifications for Nonsyndromic Deafness

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Aliases & Descriptions for Nonsyndromic Deafness:

Name: Nonsyndromic Deafness 11 69 24 13 25 66
Nonsyndromic Hearing Loss 11 24
Nonsyndromic Hearing Loss and Deafness 24
Nonsyndromic Hereditary Hearing Loss 11
 
Nonsyndromic Hearing Impairment 24
Deafness, Nonsyndromic 12
Isolated Deafness 24

Classifications:



External Ids:

Disease Ontology11 DOID:0050563

Summaries for Nonsyndromic Deafness

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Genetics Home Reference:24 Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body.

MalaCards based summary: Nonsyndromic Deafness, also known as nonsyndromic hearing loss, is related to x-linked nonsyndromic deafness and nonsyndromic hearing loss and deafness, mitochondrial. An important gene associated with Nonsyndromic Deafness is COL11A2 (Collagen Type XI Alpha 2 Chain), and among its related pathways is Gap junction trafficking. Related mouse phenotypes are behavior/neurological and hearing/vestibular/ear.

Disease Ontology:11 An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.

Wikipedia:69 Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast,... more...

Related Diseases for Nonsyndromic Deafness

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Diseases in the Familial Deafness family:

Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 32
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Recessive 42 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 6/14/38
Deafness, Autosomal Recessive 25 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 55 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 24 Deafness, Autosomal Recessive 49
Deafness, Autosomal Dominant 1 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 15 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 104
Deafness, Autosomal Recessive 66 Deafness, Autosomal Dominant 13
Deafness, Autosomal Recessive 53 Deafness, Autosomal Dominant 31
Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 10 Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 39 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 17
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness, Autosomal Recessive 18b
Deafness, Autosomal Dominant 59 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 63
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 8/12 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 20
Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 102
Deafness, Autosomal Dominant 48 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 48 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 20/26
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 4b
Deafness, Autosomal Dominant 4a Deafness, Autosomal Dominant 67
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 29
Deafness, Autosomal Recessive 8/10 Deafness, Autosomal Recessive 98
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 28 nonsyndromic deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Otof-Related Deafness Deafness, Autosomal Dominant, 68
Deafness, Autosomal Recessive, 97

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

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1x-linked nonsyndromic deafness33.2COCH, TECTA
2nonsyndromic hearing loss and deafness, mitochondrial32.4GJB2, GJB6
3deafness, autosomal recessive 1230.7CDH23, PCDH15
4autosomal recessive nonsyndromic deafness26.9CDH23, CIB2, COCH, COL11A2, DCDC2, GJB2
5dfnx1 nonsyndromic hearing loss and deafness12.3
6dfna2 nonsyndromic hearing loss12.3
7autosomal dominant nonsyndromic deafness12.1
8deafness, nonsyndromic, modifier 111.9
9pendred syndrome/dfnb411.1
10deafness, x-linked 410.8
11myocardial infarction 210.7GJB2, GJB6
12vapb-related amyotrophic lateral sclerosis10.6CIB2, MYO7A
13thumb deformity, alopecia, pigmentation anomaly10.6GJB2, GJB6
14troyer syndrome10.5GJB2, GJB6
15usher syndrome, type 1f10.5CDH23, GJB2
16deafness, autosomal recessive 2310.5COCH, MYO7A, PCDH15
17non-hypoproteinemic hypertrophic gastropathy10.5GJB2, GJB3
18deafness, autosomal dominant 3a10.4GJB2, GJB3, GJB6
19pierre robin syndrome10.4CDH23, MYO7A, PCDH15
20pseudohermaphrodism anorectal anomalies10.4GJB2, GJB3, GJB6
21punctate palmoplantar keratoderma type 210.4GJB2, GJB3, GJB6
22ectodermal dysplasia 2, clouston type10.4GJB2, GJB6
23erythrokeratodermia variabilis et progressiva10.4GJB2, GJB3, GJB6
24dementia, familial british10.4GJB2, GJB3, GJB6
25diabetes mellitus, 6q24-related transient neonatal10.3CDH23, GJB2
26orofacial cleft10.3GJB2, LRTOMT, OTOG, TMPRSS3, TRIOBP
27deafness, autosomal recessive10.3CIB2, GJB3, LRTOMT
28deafness, autosomal recessive 210.3CDH23, CIB2, MYO7A, PCDH15
29spastic paraplegia 50, autosomal recessive10.3GJB2, GJB3
30x-linked hypophosphatemic rickets10.2CDH23, CIB2, MYO7A, PCDH15
31small non-cleaved cell lymphoma10.2GJB2, GJB3, GJB6
32usher syndrome10.2
33noonan syndrome with multiple lentigines10.1GJB2, GJB3, GJB6, POU3F4
34nonsyndromic hearing loss and deafness, autosomal recessive10.1GJB2, GJB3, GJB6, POU3F4
35endometritis10.0GJB2, GJB6, SLC26A4, TECTA, TMC1
36dfnb110.0
37wolfram syndrome9.9
38deafness, autosomal recessive 989.9
39fechtner syndrome9.9
40sebastian syndrome9.9
41epstein syndrome9.9
42leigh syndrome9.9
43pendred syndrome9.9
44sensorineural hearing loss9.9
45limb-girdle muscular dystrophy9.9
46epilepsy9.9
47muscular dystrophy9.9
48usher syndrome type 1j9.9
49sublingual gland cancer9.8GJB2, GJB3, GJB6, MYO15A, SLC26A4, TMC1
50dihydrolipoamide dehydrogenase deficiency9.7CDH23, GJB2, GJB3, GJB6, MYO15A, SLC26A4

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



Diseases related to nonsyndromic deafness

Symptoms for Nonsyndromic Deafness

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Drugs & Therapeutics for Nonsyndromic Deafness

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Epidemiology of Non-syndromic Dominant DeafnessCompletedNCT01150305
2Non-Syndrome Hereditary Hearing Impairment - Gene Mapping: India/Pakistan ProtocolRecruitingNCT00341874
3Clinical and Genetic Analysis of Enlarged Vestibular AqueductsRecruitingNCT00023036
4Genetic Analysis of Human Hereditary Hearing ImpairmentTerminatedNCT00001606

Search NIH Clinical Center for Nonsyndromic Deafness

Genetic Tests for Nonsyndromic Deafness

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Genetic tests related to Nonsyndromic Deafness:

id Genetic test Affiliating Genes
1 Nonsyndromic Deafness25

Anatomical Context for Nonsyndromic Deafness

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Animal Models for Nonsyndromic Deafness or affiliated genes

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MGI Mouse Phenotypes related to Nonsyndromic Deafness:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.0CDH23, CIB2, DCDC2, GJB6, LRTOMT, MYO15A
2MP:00053776.8CDH23, CIB2, COCH, COL11A2, GJB2, GJB6
3MP:00036316.3CDH23, CIB2, DCDC2, GJB2, GJB6, LRTOMT

Publications for Nonsyndromic Deafness

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Articles related to Nonsyndromic Deafness:

(show top 50)    (show all 71)
idTitleAuthorsYear
1
CORRIGENDUM: Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. (27494218)
2016
2
A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9. (26631968)
2016
3
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. (26173970)
2015
4
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. (25807530)
2015
5
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. (26196677)
2015
6
Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86. (24387994)
2014
7
In search of genetic markers for nonsyndromic deafness in Africa: a study in Cameroonians and Black South Africans with the GJB6 and GJA1 candidate genes. (24785695)
2014
8
Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans. (25162826)
2014
9
Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1) in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing. (23901193)
2013
10
Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunnan, China. (24341454)
2013
11
Mitochondrial DNA mutation screening in an ethnically diverse nonsyndromic deafness cohort. (22853457)
2012
12
Taperin (c9orf75), a mutated gene in nonsyndromic deafness, encodes a vertebrate specific, nuclear localized protein phosphatase one alpha (PP1I+) docking protein. (23213405)
2012
13
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey. (21117948)
2011
14
Deleterious mutation in GPSM2 identified as cause for nonsyndromic deafness. (21029073)
2011
15
Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness. (20563649)
2011
16
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. (20170899)
2010
17
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. (19603065)
2010
18
Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness. (19645626)
2009
19
Function and expression pattern of nonsyndromic deafness genes. (19601806)
2009
20
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. (19107147)
2009
21
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. (18719945)
2008
22
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. (18953341)
2008
23
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. (18181211)
2008
24
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. (17690910)
2007
25
GJB6 gene mutation analysis in Chinese nonsyndromic deaf population]. (17438853)
2007
26
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan. (17259707)
2007
27
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. (17066295)
2007
28
Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan. (17033161)
2007
29
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness. (17473676)
2007
30
Sequence analysis of the mitochondrial genome from a large family with maternally inherited nonsyndromic deafness. (16086269)
2005
31
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. (15605408)
2005
32
Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness. (16365218)
2005
33
A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12. (16158433)
2005
34
Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness. (14735592)
2004
35
Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness. (14960712)
2004
36
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. (14681830)
2004
37
The genetic bases for syndromic and nonsyndromic deafness among Jews. (14604828)
2003
38
Making sense of nonsyndromic deafness. (12707186)
2003
39
Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness. (12064630)
2001
40
MYO1F as a candidate gene for nonsyndromic deafness, DFNB15. (11493199)
2001
41
Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. (11074495)
2000
42
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region. (10950923)
2000
43
Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness. (11810458)
2000
44
Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness. (10464101)
1999
45
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. (9806553)
1998
46
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. (9603736)
1998
47
Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness. (9503015)
1998
48
Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. (9360932)
1997
49
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. (8630497)
1996
50
Nonsyndromic deafness. (7011439)
1980

Variations for Nonsyndromic Deafness

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Clinvar genetic disease variations for Nonsyndromic Deafness:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL11A2NM_080680.2(COL11A2): c.109G> T (p.Ala37Ser)single nucleotide variantPathogenicrs606231410GRCh38Chr 6, 33189443: 33189443
2DCDC2NM_001195610.1(DCDC2): c.1271A> C (p.Gln424Pro)single nucleotide variantPathogenicrs794729665GRCh38Chr 6, 24178385: 24178385

Expression for genes affiliated with Nonsyndromic Deafness

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Search GEO for disease gene expression data for Nonsyndromic Deafness.

Pathways for genes affiliated with Nonsyndromic Deafness

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Pathways related to Nonsyndromic Deafness according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8GJB2, GJB3, GJB6

GO Terms for genes affiliated with Nonsyndromic Deafness

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

idNameGO IDScoreTop Affiliating Genes
1connexin complexGO:000592210.5GJB2, GJB3, GJB6
2stereocilium bundleGO:003242110.2MYO15A, PCDH15
3photoreceptor outer segmentGO:000175010.0CIB2, MYO7A, PCDH15
4gap junctionGO:00059219.9GJB2, GJB3, GJB6
5apical plasma membraneGO:00163249.7GJB6, MYO7A, OTOG, SLC26A4
6stereociliumGO:00324209.0CDH23, CIB2, MYO15A, MYO7A, PCDH15, TPRN

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1auditory receptor cell developmentGO:006011710.6LRTOMT, TMC1
2auditory receptor cell differentiationGO:004249110.5MYO7A, PCDH15
3auditory receptor cell stereocilium organizationGO:006008810.4MYO7A, PCDH15
4detection of mechanical stimulus involved in sensory perception of soundGO:005091010.3PCDH15, TMC1
5sensory perception of light stimulusGO:005095310.1CDH23, MYO7A, PCDH15
6equilibrioceptionGO:005095710.1CDH23, MYO7A, PCDH15
7inner ear receptor stereocilium organizationGO:006012210.0CDH23, MYO7A, PCDH15
8locomotory behaviorGO:00076269.7CDH23, MYO15A, PCDH15
9inner ear developmentGO:00488399.7GJB6, MYO7A, PCDH15, POU3F4
10photoreceptor cell maintenanceGO:00454949.3CDH23, CIB2, PCDH15
11sensory perception of soundGO:00076056.7CDH23, COCH, COL11A2, DCDC2, GJB2, GJB3

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

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:000524310.0GJB2, GJB3

Sources for Nonsyndromic Deafness

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet