MCID: NNS007
MIFTS: 39

Nonsyndromic Deafness malady

Genetic diseases, Ear diseases, Neuronal diseases, Rare diseases, Cardiovascular diseases categories

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
Undifferentiated Deafness 68 23
Isolated Deafness 68 23
 
Nonsyndromic Hereditary Hearing Loss 10
Nonsyndromic Hearing Impairment 23
Deafness, Nonsyndromic 11


Classifications:



External Ids:

Disease Ontology10 DOID:0050563

Summaries for Nonsyndromic Deafness

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Genetics Home Reference:23 Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Different types of nonsyndromic deafness are named according to their inheritance patterns.

MalaCards based summary: Nonsyndromic Deafness, also known as nonsyndromic hearing loss, is related to nonsyndromic hearing loss and deafness, dfnb1 and x-linked nonsyndromic deafness. An important gene associated with Nonsyndromic Deafness is DCDC2 (Doublecortin Domain Containing 2), and among its related pathways is Gap junction trafficking. Related mouse phenotypes are behavior/neurological and nervous system.

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 Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness nonsyndromic deafness
Otof-Related Deafness

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

(show top 50)    (show all 133)
idRelated DiseaseScoreTop Affiliating Genes
1nonsyndromic hearing loss and deafness, dfnb131.1GJB2, GJB6
2x-linked nonsyndromic deafness30.7KCNQ4, TECTA
3nonsyndromic hearing loss and deafness, autosomal dominant30.6GJB2, GJB3, GJB6, POU3F4
4nonsyndromic hearing loss and deafness, mitochondrial30.0GJB2, GJB3, GJB6, POU3F4
5autosomal recessive nonsyndromic deafness10.7
6dfnx1 nonsyndromic hearing loss and deafness10.6
7nonsyndromic hearing loss and deafness10.6
8dfnb 7/11 nonsyndromic hearing loss and deafness10.6
9dfna2 nonsyndromic hearing loss10.6
10dfnb 8/10 nonsyndromic hearing loss and deafness10.6
11dfna 3 nonsyndromic hearing loss and deafness10.5
12autosomal dominant nonsyndromic deafness10.5
13nonsyndromic hearing loss and deafness, dfna310.5
14dfnb 1 nonsyndromic hearing loss and deafness10.5
15nonsyndromic hearing loss and deafness, autosomal recessive10.5
16dfna 1 nonsyndromic hearing loss and deafness10.5
17dfna 4 nonsyndromic hearing loss and deafness10.5
18dfna 5 nonsyndromic hearing loss and deafness10.5
19dfna 8/12 nonsyndromic hearing loss and deafness10.5
20dfna10 nonsyndromic hearing loss and deafness10.5
21dfna11 nonsyndromic hearing loss and deafness10.5
22dfna13 nonsyndromic hearing loss and deafness10.5
23dfna15 nonsyndromic hearing loss and deafness10.5
24dfna17 nonsyndromic hearing loss and deafness10.5
25dfna22 nonsyndromic hearing loss and deafness10.5
26dfna23 nonsyndromic hearing loss and deafness10.5
27dfna36 nonsyndromic hearing loss and deafness10.5
28dfna44 nonsyndromic hearing loss and deafness10.5
29dfnb 3 nonsyndromic hearing loss and deafness10.5
30dfnb 6 nonsyndromic hearing loss and deafness10.5
31dfnb12 nonsyndromic hearing loss and deafness10.5
32dfnb16 nonsyndromic hearing loss and deafness10.5
33dfnb18 nonsyndromic hearing loss and deafness10.5
34dfnb21 nonsyndromic hearing loss and deafness10.5
35dfnb22 nonsyndromic hearing loss and deafness10.5
36dfnb23 nonsyndromic hearing loss and deafness10.5
37dfnb24 nonsyndromic hearing loss and deafness10.5
38dfnb28 nonsyndromic hearing loss and deafness10.5
39dfnb29 nonsyndromic hearing loss and deafness10.5
40dfnb30 nonsyndromic hearing loss and deafness10.5
41dfnb31 nonsyndromic hearing loss and deafness10.5
42dfnb35 nonsyndromic hearing loss and deafness10.5
43dfnb36 nonsyndromic hearing loss and deafness10.5
44dfnb37 nonsyndromic hearing loss and deafness10.5
45dfnb39 nonsyndromic hearing loss and deafness10.5
46dfnb49 nonsyndromic hearing loss and deafness10.5
47dfnb59 nonsyndromic hearing loss and deafness10.5
48dfnb63 nonsyndromic hearing loss and deafness10.5
49dfnb67 nonsyndromic hearing loss and deafness10.5
50dfnb77 nonsyndromic hearing loss and deafness10.5

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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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:00053866.1CDH23, DCDC2, GJB6, LRTOMT, MYO15A, MYO7A
2MP:00036315.4CDH23, DCDC2, GJB2, GJB6, KCNQ4, LRTOMT
3MP:00053774.7CDH23, COCH, GJB2, GJB6, KCNQ4, LRTOMT

Publications for Nonsyndromic Deafness

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Articles related to Nonsyndromic Deafness:

(show top 50)    (show all 69)
idTitleAuthorsYear
1
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. (26173970)
2015
2
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. (26196677)
2015
3
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. (26226137)
2015
4
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
5
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
6
Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunnan, China. (24341454)
2013
7
Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1) in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing. (23901193)
2013
8
Taperin (c9orf75), a mutated gene in nonsyndromic deafness, encodes a vertebrate specific, nuclear localized protein phosphatase one alpha (PP1I+) docking protein. (23213405)
2012
9
Autosomal recessive nonsyndromic deafness genes: a review. (22652773)
2012
10
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
11
Mitochondrial DNA mutation screening in an ethnically diverse nonsyndromic deafness cohort. (22853457)
2012
12
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey. (21117948)
2011
13
Deleterious mutation in GPSM2 identified as cause for nonsyndromic deafness. (21029073)
2011
14
Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness. (20563649)
2011
15
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. (20170899)
2010
16
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. (19603065)
2010
17
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. (19646679)
2009
18
Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness. (19645626)
2009
19
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. (18181211)
2008
20
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. (18719945)
2008
21
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. (18674745)
2008
22
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. (18953341)
2008
23
Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan. (17033161)
2007
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
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness. (17473676)
2007
27
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan. (17259707)
2007
28
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. (17066295)
2007
29
Vestibular system in infants with hereditary nonsyndromic deafness. (17898670)
2007
30
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness. (16941638)
2006
31
A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12. (16158433)
2005
32
Sequence analysis of the mitochondrial genome from a large family with maternally inherited nonsyndromic deafness. (16086269)
2005
33
Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31. (15637723)
2005
34
Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness. (14960712)
2004
35
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
36
The genetic bases for syndromic and nonsyndromic deafness among Jews. (14604828)
2003
37
Making sense of nonsyndromic deafness. (12707186)
2003
38
Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues. (12471561)
2003
39
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. (11907649)
2002
40
Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness. (12064630)
2001
41
High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness. (11551103)
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
1DCDC2NM_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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7GJB2, 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
1connexon complexGO:000592210.2GJB2, GJB3, GJB6
2gap junctionGO:00059219.7GJB2, GJB3, GJB6
3apical plasma membraneGO:00163249.0GJB6, MYO7A, OTOG, SLC26A4
4stereociliumGO:00324208.8CDH23, MYO15A, MYO7A, PCDH15

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1auditory receptor cell developmentGO:006011710.5LRTOMT, TMC1
2auditory receptor cell stereocilium organizationGO:006008810.1MYO7A, PCDH15
3cell communicationGO:000715410.0GJB2, GJB3, GJB6
4detection of mechanical stimulus involved in sensory perception of soundGO:005091010.0PCDH15, TMC1
5inner ear receptor stereocilium organizationGO:00601229.8MYO7A, PCDH15
6auditory receptor cell differentiationGO:00424919.7MYO7A, PCDH15
7equilibrioceptionGO:00509579.5CDH23, MYO7A, PCDH15
8sensory perception of light stimulusGO:00509539.3CDH23, MYO7A, PCDH15
9inner ear developmentGO:00488399.0GJB6, MYO7A, PCDH15, POU3F4
10inner ear morphogenesisGO:00424729.0KCNQ4, MYO15A, MYO7A
11sensory perception of soundGO:00076055.1CDH23, COCH, GJB2, GJB3, GJB6, KCNQ4

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

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:00052439.9GJB2, GJB3

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