DFNA3
MCID: DFN027
MIFTS: 14

Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 (DFNA3)

Categories: Ear diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

MalaCards integrated aliases for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3:

Name: Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 20 70
Dfna3 20 54
Neurosensory Nonsyndromic Dominant Deafness 1 20
Nsrd1 20

Classifications:



External Ids:

UMLS 70 C2931770

Summaries for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

MalaCards based summary : Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3, also known as dfna3, is related to nonsyndromic hearing loss and deafness, dfna3 and deafness, autosomal recessive 1a. An important gene associated with Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 is GJB2 (Gap Junction Protein Beta 2).

Related Diseases for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3:



Diseases related to Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Symptoms & Phenotypes for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Drugs & Therapeutics for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Genetic Tests for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Anatomical Context for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Publications for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Articles related to Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3:

(show all 28)
# Title Authors PMID Year
1
High prevalence of the connexin 26 (GJB2) mutation in Chinese cochlear implant recipients. 61 54
19707039 2009
2
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. 61 54
16059934 2005
3
Connexin26 gene ( GJB2): prevalence of mutations in the Chinese population. 54 61
12522692 2002
4
Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness. 54 61
12064630 2001
5
[Mutations in the connexin 26 gene in patients with nonsyndromic hearing impairment]. 61 54
12768774 2000
6
Prevalent connexin 26 gene (GJB2) mutations in Japanese. 61 54
10633133 2000
7
Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss. 61 54
10704187 1999
8
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. 61 54
10369869 1999
9
A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2). 54 61
9507396 1998
10
Sequence characterization of a newly identified human alpha-tubulin gene (TUBA2). 61 54
9465305 1998
11
Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss. 61
33466560 2021
12
A novel dominant GJB2 (DFNA3) mutation in a Chinese family. 61
28102197 2017
13
Hair phenotype in non-syndromic deafness. 61
23751281 2013
14
The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study. 61
22695344 2012
15
Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome. 61
22429511 2012
16
GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss. 61
22547955 2011
17
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss. 61
21484990 2011
18
Phenotypes of two Dutch DFNA3 families with mutations in GJB2. 61
21510145 2011
19
Therapeutic regulation of gene expression in the inner ear using RNA interference. 61
19494570 2009
20
Cochlear expression of a dominant-negative GJB2R75W construct delivered through the round window membrane in mice. 61
17462767 2007
21
DFNA3. 61
12408062 2002
22
A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred. 61
10739769 2000
23
DFNA3. 61
10868217 2000
24
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. 61
10471490 1999
25
Nonsyndromic Hearing Loss and Deafness, DFNA3 61
20301708 1998
26
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. 61
9529365 1998
27
A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. 61
8776602 1996
28
A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C). 61
8530067 1995

Variations for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Expression for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Search GEO for disease gene expression data for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3.

Pathways for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

GO Terms for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Sources for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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