MCID: NNS007
MIFTS: 42

Nonsyndromic Deafness malady

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

Aliases & Classifications for Nonsyndromic Deafness

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Aliases & Descriptions for Nonsyndromic Deafness:

Name: Nonsyndromic Deafness 10 68 23 12 65
Nonsyndromic Hearing Loss 10 23
Deafness, Nonsyndromic 11 24
Isolated Deafness 68 23
 
Nonsyndromic Hearing Loss and Deafness 23
Nonsyndromic Hereditary Hearing Loss 10
Nonsyndromic Hearing Impairment 23
Undifferentiated Deafness 68

Classifications:



External Ids:

Disease Ontology10 DOID:0050563
UMLS65 C3711374

Summaries for Nonsyndromic Deafness

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Genetics Home Reference:23 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 autosomal recessive nonsyndromic deafness and x-linked nonsyndromic deafness. An important gene associated with Nonsyndromic Deafness is COL11A2 (Collagen Type XI Alpha 2), and among its related pathways is Gap junction trafficking. Affiliated tissues include breast, thyroid and prostate, and related mouse phenotypes are integument and behavior/neurological.

Disease Ontology:10 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:68 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 52)
idRelated DiseaseScoreTop Affiliating Genes
1autosomal recessive nonsyndromic deafness33.9COCH, TECTA
2x-linked nonsyndromic deafness33.7GJB2, LRTOMT, OTOG, TMPRSS3, TRIOBP
3nonsyndromic hearing loss and deafness, mitochondrial31.3GJB2, GJB3, GJB6, POU3F4
4deafness, autosomal recessive 1230.6CDH23, PCDH15
5autosomal dominant nonsyndromic deafness26.5CDH23, CIB2, COCH, COL11A2, DCDC2, GJB2
6dfnx1 nonsyndromic hearing loss and deafness12.3
7dfna2 nonsyndromic hearing loss12.3
8deafness, nonsyndromic, modifier 111.9
9pendred syndrome/dfnb411.1
10nonsyndromic hearing loss and deafness, dfnb110.7GJB2, GJB6
11myocardial infarction 210.7GJB2, GJB6
12congenital deafness with vitiligo and achalasia10.6GJB2, GJB6
13ectodermal dysplasia 2, clouston type10.6GJB2, GJB6
14charcot-marie-tooth disease, type 1a10.6GJB2, MYO15A, MYO7A
15usher syndrome type 1k10.5CIB2, MYO7A
16deafness, autosomal recessive 2310.4COCH, MYO7A, PCDH15
17pseudoaminopterin syndrome10.4GJB3, GJB6
18deafness, autosomal dominant 3a10.3GJB2, GJB3, GJB6
19deafness, autosomal dominant 1110.3GJB2, MYO15A, MYO7A, TECTA
20kidney cancer, childhood10.3GJB2, GJB3, GJB6
21erythrokeratodermia variabilis et progressiva10.3GJB2, GJB3, GJB6
22troyer syndrome10.3GJB2, GJB3, GJB6
23amelogenesis imperfecta, type ig10.3CDH23, MYO7A, PCDH15
24syndactyly, type iii10.2GJB2, GJB3
25deafness, autosomal recessive10.2CIB2, GJB3, LRTOMT
26usher syndrome10.2
27spastic paraplegia 50, autosomal recessive10.1GJB2, GJB3
28deafness, autosomal recessive 210.0CDH23, CIB2, MYO7A, PCDH15
29dysgraphia10.0COCH, SLC26A4
30small intestine lymphoma10.0GJB2, GJB3, GJB6
31dfnb110.0
32nonsyndromic hearing loss and deafness, autosomal dominant10.0GJB2, GJB3, GJB6, POU3F4
33familial partial lipodystrophy10.0CDH23, CIB2, MYO7A, PCDH15
34wolfram syndrome10.0
35deafness, autosomal recessive 9810.0
36fechtner syndrome10.0
37sebastian syndrome10.0
38epstein syndrome10.0
39leigh syndrome9.9
40pendred syndrome9.9
41sensorineural hearing loss9.9
42limb-girdle muscular dystrophy9.9
43muscular dystrophy9.9
44usher syndrome type 1j9.9
45dhdds-cdg9.6GJB2, GJB3, GJB6, MYO7A, PCDH15, POU3F4
46dihydrolipoamide dehydrogenase deficiency9.2CDH23, GJB2, GJB3, GJB6, MYO15A, SLC26A4
47thyroid lymphoma9.1COCH, GJB2, GJB3, GJB6, MYO7A, SLC26A4
48pulmonary tuberculosis9.0CDH23, COCH, GJB2, GJB3, GJB6, MYO7A
49metagonimiasis8.8COL11A2, GJB2, GJB3, GJB6, MYO15A, SLC26A4
50acral persistent papular mucinosis8.6COCH, COL11A2, GJB2, GJB3, GJB6, MYO7A

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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Anatomical Context for Nonsyndromic Deafness

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MalaCards organs/tissues related to Nonsyndromic Deafness:

33
Breast, Thyroid, Prostate, Heart, Endothelial, B cells, Myeloid

Animal Models for Nonsyndromic Deafness or affiliated genes

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MGI Mouse Phenotypes related to Nonsyndromic Deafness:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.9CDH23, GJB2, GJB3, GJB6, MYO7A, POU3F4
2MP:00053866.8CDH23, CIB2, DCDC2, GJB6, LRTOMT, MYO15A
3MP:00036316.2CDH23, CIB2, DCDC2, GJB2, GJB6, LRTOMT
4MP:00053776.1CDH23, CIB2, COCH, COL11A2, GJB2, GJB6

Publications for Nonsyndromic Deafness

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Articles related to Nonsyndromic Deafness:

(show top 50)    (show all 70)
idTitleAuthorsYear
1
A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9. (26631968)
2016
2
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. (26173970)
2015
3
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. (26196677)
2015
4
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. (26226137)
2015
5
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
6
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
7
Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunnan, China. (24341454)
2013
8
Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1) in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing. (23901193)
2013
9
Taperin (c9orf75), a mutated gene in nonsyndromic deafness, encodes a vertebrate specific, nuclear localized protein phosphatase one alpha (PP1I+) docking protein. (23213405)
2012
10
Autosomal recessive nonsyndromic deafness genes: a review. (22652773)
2012
11
Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness]. (22567861)
2012
12
Mitochondrial DNA mutation screening in an ethnically diverse nonsyndromic deafness cohort. (22853457)
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
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. (19646679)
2009
19
Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness. (19645626)
2009
20
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. (18181211)
2008
21
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. (18719945)
2008
22
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. (18674745)
2008
23
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. (18953341)
2008
24
Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan. (17033161)
2007
25
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. (17690910)
2007
26
GJB6 gene mutation analysis in Chinese nonsyndromic deaf population]. (17438853)
2007
27
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness. (17473676)
2007
28
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan. (17259707)
2007
29
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. (17066295)
2007
30
Vestibular system in infants with hereditary nonsyndromic deafness. (17898670)
2007
31
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness. (16941638)
2006
32
A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12. (16158433)
2005
33
Sequence analysis of the mitochondrial genome from a large family with maternally inherited nonsyndromic deafness. (16086269)
2005
34
Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31. (15637723)
2005
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
Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues. (12471561)
2003
40
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. (11907649)
2002
41
Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness. (12064630)
2001
42
Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness. (11810458)
2000
43
Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. (11074495)
2000
44
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
45
Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation. (9632174)
1998
46
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. (9806553)
1998
47
Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. (9360932)
1997
48
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. (8630497)
1996
49
Mitochondrial mutation associated with nonsyndromic deafness. (8572257)
1995
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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Biological processes related to Nonsyndromic Deafness according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell communicationGO:000715410.3GJB2, GJB6
2sensory perception of light stimulusGO:005095310.2CDH23, PCDH15
3photoreceptor cell maintenanceGO:004549410.2CDH23, PCDH15
4sensory perception of soundGO:00076059.3COL11A2, DCDC2, GJB2, GJB3, GJB6, LRTOMT

Sources for Nonsyndromic Deafness

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet