Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷⁰ C2931770

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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).

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Related Diseases for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Diseases in the Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 family:

Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22	Deafness, Autosomal Dominant Nonsyndromic Sensorineural 23
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 24	Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53

Diseases related to Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)

#	Related Disease	Score
1	nonsyndromic hearing loss and deafness, dfna3	11.0
2	deafness, autosomal recessive 1a	11.0
3	deafness, autosomal recessive 1b	11.0
4	branchiootic syndrome 1	10.2
5	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.1
6	nonsyndromic hearing loss	10.0
7	autosomal dominant non-syndromic sensorineural deafness type dfna	10.0
8	rare genetic deafness	10.0
9	keratoderma, palmoplantar, with deafness	9.9
10	muscular dystrophy, limb-girdle, autosomal recessive 5	9.9
11	deafness, autosomal dominant 3a	9.9
12	deafness, autosomal dominant 3b	9.9
13	hearing loss, noise-induced	9.9
14	sensorineural hearing loss	9.9
15	palmoplantar keratosis	9.9
16	muscular dystrophy	9.9
17	limb-girdle muscular dystrophy	9.9
18	nonsyndromic deafness	9.9
19	dfnb1	9.9
20	progressive muscular dystrophy	9.9
21	non-syndromic genetic deafness	9.9
22	hereditary palmoplantar keratoderma	9.9

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

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Symptoms & Phenotypes for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

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Drugs & Therapeutics for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

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

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Genetic Tests for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

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Anatomical Context for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

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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	Chen D...Fang F	19707039	2009
2	The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. ⁶¹ ⁵⁴	Feldmann D...Marlin S	16059934	2005
3	Connexin26 gene ( GJB2): prevalence of mutations in the Chinese population. ⁵⁴ ⁶¹	Liu Y...Zhu P	12522692	2002
4	Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness. ⁵⁴ ⁶¹	Bruzzone R...White TW	12064630	2001
5	[Mutations in the connexin 26 gene in patients with nonsyndromic hearing impairment]. ⁶¹ ⁵⁴	Xiao Z...Xia J	12768774	2000
6	Prevalent connexin 26 gene (GJB2) mutations in Japanese. ⁶¹ ⁵⁴	Abe S...Kimberling WJ	10633133	2000
7	Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss. ⁶¹ ⁵⁴	Cohn ES...Kelley PM	10704187	1999
8	A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. ⁶¹ ⁵⁴	Maestrini E...Munro CS	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	Lench NJ...Van Camp G	9507396	1998
10	Sequence characterization of a newly identified human alpha-tubulin gene (TUBA2). ⁶¹ ⁵⁴	Dode C...Petit C	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	Maslova EA...Posukh OL	33466560	2021
12	A novel dominant GJB2 (DFNA3) mutation in a Chinese family. ⁶¹	Wang H...Wang Q	28102197	2017
13	Hair phenotype in non-syndromic deafness. ⁶¹	Volo T...Martini A	23751281	2013
14	The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study. ⁶¹	Bazazzadegan N...Najmabadi H	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	Ben Said M...Hmani-Aifa M	22429511	2012
16	GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss. ⁶¹	Iossa S...Franze A	22547955	2011
17	Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss. ⁶¹	Bazazzadegan N...Najmabadi H	21484990	2011
18	Phenotypes of two Dutch DFNA3 families with mutations in GJB2. ⁶¹	Weegerink NJ...Kunst HP	21510145	2011
19	Therapeutic regulation of gene expression in the inner ear using RNA interference. ⁶¹	Maeda Y...Smith RJH	19494570	2009
20	Cochlear expression of a dominant-negative GJB2R75W construct delivered through the round window membrane in mice. ⁶¹	Maeda Y...Smith RJ	17462767	2007
21	DFNA3. ⁶¹	Denoyelle F...Petit C	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	Hafner FM...Leal SM	10739769	2000
23	DFNA3. ⁶¹	Denoyelle F...Petit C	10868217	2000
24	Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. ⁶¹	Grifa A...Gasparini P	10471490	1999
25	Nonsyndromic Hearing Loss and Deafness, DFNA3 ⁶¹	Smith RJH...Ranum PT	20301708	1998
26	Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. ⁶¹	Kelley PM...Kimberling WJ	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	Tamagawa Y...Nishizawa M	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	Guilford P...Cohen D	8530067	1995

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Genes for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Genes related to Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GJB2	Gap Junction Protein Beta 2	Protein Coding	11.06	Novoseek inferred ⁵⁴	12064630 10633133 16059934 (more) 9507396 10369869 12768774 9465305 12522692 19707039 10704187

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Variations for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

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Expression for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

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

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Pathways for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

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GO Terms for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

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Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 (DFNA3)

Aliases & Classifications for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

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

Classifications:

External Ids:

Summaries for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Related Diseases for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Diseases in the Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 family:

Diseases related to Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 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

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:

Genes for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Genes related to Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 (0 elite genes):

Variations for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Expression 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