MCID: NNS008
MIFTS: 18

Nonsyndromic Hearing Loss and Deafness, Dfna3

Categories: Ear diseases

Aliases & Classifications for Nonsyndromic Hearing Loss and Deafness, Dfna3

MalaCards integrated aliases for Nonsyndromic Hearing Loss and Deafness, Dfna3:

Name: Nonsyndromic Hearing Loss and Deafness, Dfna3 24

Characteristics:

GeneReviews:

24
Penetrance Gjb2 and gjb6 pathogenic variants that cause dfna3 are fully penetrant.

Classifications:



Summaries for Nonsyndromic Hearing Loss and Deafness, Dfna3

MalaCards based summary : Nonsyndromic Hearing Loss and Deafness, Dfna3 is related to nonsyndromic deafness and deafness, autosomal dominant 3a. An important gene associated with Nonsyndromic Hearing Loss and Deafness, Dfna3 is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are G-Beta Gamma Signaling and Myometrial Relaxation and Contraction Pathways. Affiliated tissues include skin and testes.

GeneReviews: NBK1536

Related Diseases for Nonsyndromic Hearing Loss and Deafness, Dfna3

Diseases related to Nonsyndromic Hearing Loss and Deafness, Dfna3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 29.6 GJB6 GJB2
2 deafness, autosomal dominant 3a 10.3
3 branchiootic syndrome 1 10.3
4 deafness, autosomal dominant 3b 10.3
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
6 deafness, autosomal dominant nonsyndromic sensorineural 3 10.3
7 autosomal dominant non-syndromic sensorineural deafness type dfna 10.3
8 deafness, autosomal dominant 24 9.8 GJB6 GJB2
9 kid syndrome 9.8 GJB6 GJB2
10 pseudoainhum 9.8 GJB6 GJB2
11 knuckle pads 9.8 GJB6 GJB2
12 knuckle pads, leukonychia, and sensorineural deafness 9.8 GJB6 GJB2
13 deafness, x-linked 2 9.8 GJB6 GJB2
14 dfnb1 9.8 GJB6 GJB2
15 hodgkin's lymphoma, nodular sclerosis 9.8 GJB6 GJB2
16 vohwinkel syndrome 9.8 GJB6 GJB2
17 congenital cytomegalovirus 9.8 GJB6 GJB2
18 deafness, autosomal recessive 23 9.8 GJB6 GJB2
19 deafness, autosomal recessive 1a 9.8 GJB6 GJB2
20 vestibular disease 9.7 GJB6 GJB2
21 erythrokeratodermia variabilis et progressiva 1 9.7 GJB6 GJB2
22 deafness, autosomal recessive 16 9.7 GJB6 GJB2
23 deafness, autosomal dominant 2a 9.7 GJB6 GJB2
24 clouston syndrome 9.7 GJB6 GJB2
25 inner ear disease 9.7 GJB6 GJB2
26 auditory system disease 9.7 GJB6 GJB2
27 keratitis, hereditary 9.6 GJB6 GJB2
28 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 GJB6 GJB2
29 corneal disease 9.6 GJB6 GJB2
30 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.5 GJB6 GJB2
31 ectodermal dysplasia 9.5 GJB6 GJB2
32 skin disease 9.5 GJB6 GJB2
33 sensorineural hearing loss 9.2 GJB6 GJB2

Graphical network of the top 20 diseases related to Nonsyndromic Hearing Loss and Deafness, Dfna3:



Diseases related to Nonsyndromic Hearing Loss and Deafness, Dfna3

Symptoms & Phenotypes for Nonsyndromic Hearing Loss and Deafness, Dfna3

Drugs & Therapeutics for Nonsyndromic Hearing Loss and Deafness, Dfna3

Search Clinical Trials , NIH Clinical Center for Nonsyndromic Hearing Loss and Deafness, Dfna3

Genetic Tests for Nonsyndromic Hearing Loss and Deafness, Dfna3

Anatomical Context for Nonsyndromic Hearing Loss and Deafness, Dfna3

MalaCards organs/tissues related to Nonsyndromic Hearing Loss and Deafness, Dfna3:

41
Skin, Testes

Publications for Nonsyndromic Hearing Loss and Deafness, Dfna3

Articles related to Nonsyndromic Hearing Loss and Deafness, Dfna3:

(show top 50) (show all 56)
# Title Authors PMID Year
1
Audioprofile Surfaces: The 21st Century Audiogram. 4
26530094 2016
2
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 4
26969326 2016
3
Outcomes of Adolescents With a Short Electrode Cochlear Implant With Preserved Residual Hearing. 4
26756143 2016
4
Sensorineural Hearing Loss: A Changing Paradigm for Its Evaluation. 4
26216887 2015
5
Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care. 4
26084827 2015
6
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. 4
25262649 2014
7
Copy number variants are a common cause of non-syndromic hearing loss. 4
24963352 2014
8
Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26. 4
21040787 2011
9
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss. 4
21484990 2011
10
Phenotypes of two Dutch DFNA3 families with mutations in GJB2. 4
21510145 2011
11
A novel missense mutation in the connexin30 causes nonsyndromic hearing loss. 4
21731760 2011
12
The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice. 4
20858605 2010
13
Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30. 4
20096356 2010
14
Structure of the connexin 26 gap junction channel at 3.5 A resolution. 4
19340074 2009
15
Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss. 4
18941476 2009
16
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? 4
18804553 2009
17
Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31. 4
19050930 2009
18
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. 4
18787097 2008
19
A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. 4
18472371 2008
20
Gap junction channel structure in the early 21st century: facts and fantasies. 4
17945477 2007
21
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness. 4
17473676 2007
22
Molecular modeling and mutagenesis of gap junction channels. 4
17524457 2007
23
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan. 4
17259707 2007
24
Isoelectric points and post-translational modifications of connexin26 and connexin32. 4
16645047 2006
25
Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss. 4
16226720 2005
26
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. 4
16059934 2005
27
Functional consequences of heterogeneous gap junction channel formation and its influence in health and disease. 4
15955298 2005
28
Connexin phosphorylation as a regulatory event linked to channel gating. 4
15955301 2005
29
In vitro and in vivo suppression of GJB2 expression by RNA interference. 4
15857852 2005
30
Sensorineural hearing loss in children. 4
15752533 2005
31
GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation. 4
15603707 2004
32
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. 4
15146463 2004
33
A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. 4
12786758 2003
34
Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness. 4
12700168 2003
35
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. 4
12668604 2003
36
Human nonsyndromic sensorineural deafness. 4
14527306 2003
37
HID and KID syndromes are associated with the same connexin 26 mutation. 4
12072059 2002
38
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. 4
11912510 2002
39
A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. 4
11918723 2002
40
Gap junctions: structure and function (Review). 4
12126230 2002
41
A novel connexin 30 mutation in Clouston syndrome. 4
11874494 2002
42
DFNA3. 4
12408062 2002
43
Connexin26 gene ( GJB2): prevalence of mutations in the Chinese population. 4
12522692 2002
44
W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness. 4
11298683 2001
45
De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss. 4
11354642 2001
46
Connexin mutations in skin disease and hearing loss. 4
11179004 2001
47
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 4
11313763 2001
48
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. 4
11439000 2001
49
Exploring hemichannel permeability in vitro. 4
11218659 2001
50
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. 4
10807696 2000

Variations for Nonsyndromic Hearing Loss and Deafness, Dfna3

Expression for Nonsyndromic Hearing Loss and Deafness, Dfna3

Search GEO for disease gene expression data for Nonsyndromic Hearing Loss and Deafness, Dfna3.

Pathways for Nonsyndromic Hearing Loss and Deafness, Dfna3

Pathways related to Nonsyndromic Hearing Loss and Deafness, Dfna3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.02 GJB6 GJB2
2
Show member pathways
11.45 GJB6 GJB2
3
Show member pathways
10.61 GJB6 GJB2

GO Terms for Nonsyndromic Hearing Loss and Deafness, Dfna3

Cellular components related to Nonsyndromic Hearing Loss and Deafness, Dfna3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 8.96 GJB6 GJB2
2 connexin complex GO:0005922 8.62 GJB6 GJB2

Biological processes related to Nonsyndromic Hearing Loss and Deafness, Dfna3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.32 GJB6 GJB2
2 response to lipopolysaccharide GO:0032496 9.26 GJB6 GJB2
3 sensory perception of sound GO:0007605 9.16 GJB6 GJB2
4 inner ear development GO:0048839 8.96 GJB6 GJB2
5 cell communication GO:0007154 8.62 GJB6 GJB2

Sources for Nonsyndromic Hearing Loss and Deafness, Dfna3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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