MCID: DFN027
MIFTS: 13

Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

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 54 74
Dfna3 54 56
Neurosensory Nonsyndromic Dominant Deafness 1 54
Nsrd1 54

Classifications:



External Ids:

UMLS 74 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:

# Title Authors Year
1
A novel dominant GJB2 (DFNA3) mutation in a Chinese family. ( 28102197 )
2017
2
Phenotypes of two Dutch DFNA3 families with mutations in GJB2. ( 21510145 )
2011
3
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. ( 16059934 )
2005
4
DFNA3. ( 12408062 )
2002
5
DFNA3. ( 10868217 )
2000
6
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. ( 10471490 )
1999
7
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). ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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