DFNB1
MCID: DFN038
MIFTS: 31

Dfnb1 (DFNB1) malady

Ear category

Summaries for Dfnb1

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33MalaCards
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MalaCards: Dfnb1, also known as deafness nonsyndromic, connexin 26 linked, is related to sensorineural hearing loss and nonsyndromic hearing loss and deafness, dfnb1. An important gene associated with Dfnb1 is GJB2 (gap junction protein, beta 2, 26kDa), and among its related pathways are Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane and Calcium Regulation in the Cardiac Cell. The compounds gap 27 and carbenoxolone disodium have been mentioned in the context of this disorder. Related mouse phenotypes are nervous system and hearing/vestibular/ear.

Aliases & Classifications for Dfnb1

Sources:
43NIH Rare Diseases, 45Novoseek, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Ear


Aliases & Descriptions:

dfnb1 43 45
deafness nonsyndromic, connexin 26 linked 43
gjb2-related deafness 43
complete hearing loss 61
connexin 26 deafness 43


Related Diseases for Dfnb1

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Dfnb1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1sensorineural hearing loss30.0GJB3, GJB2
2nonsyndromic hearing loss and deafness, dfnb110.3
3familial deafness10.2
4autosomal recessive nonsyndromic deafness10.2
5x-linked nonsyndromic deafness10.1
6pendred syndrome10.1
7congenital deafness with labyrinthine aplasia, microtia, and microdontia10.1
8otof-related deafness10.1
9deafness with labyrinthine aplasia microtia and microdontia10.1
10deafness, x-linked 210.1
11keratoderma palmoplantar deafness10.1
12osteochondroma10.1
13renal tubular acidosis with deafness10.1
14deafness, autosomal recessive 9810.1
15deafness, x-linked 410.1
16deafness, x-linked 310.1
17deafness, x-linked 110.1
18deafness, x-linked 510.1
19deafness, y-linked 110.1
20rare deafness10.1
21limb-girdle muscular dystrophy10.0
22deafness, neurosensory nonsyndromic recessive, dfn10.0
23deafness, autosomal recessive 1610.0
24ectodermal dysplasia10.0GJB2
25keratoderma10.0GJB2
26keratosis10.0GJB2
27keratitis10.0GJB2
28palmoplantar keratosis10.0GJB6
29neuropathy10.0OTOF
30dfnb 1 nonsyndromic hearing loss and deafness10.0GJB2, GJB6
31dfna 3 nonsyndromic hearing loss and deafness10.0GJB2, GJB6
32bart-pumphrey syndrome10.0GJB6, GJB2
33erythrokeratodermia variabilis10.0GJB2, GJB3
34usher syndrome type i10.0PCDH15, MYO7A
35hodgkin's lymphoma, nodular sclerosis10.0GJB6, GJB3
36nonepidermolytic palmoplantar keratoderma10.0GJB3, GJB2
37skin disease10.0GJB3
38usher syndrome10.0MYO7A, PCDH15, GJB2
39clouston syndrome10.0GJB2, GJB3, GJB6
40enlarged vestibular aqueduct10.0GJB3, GJB2, GJB6
41rhyns syndrome10.0MYO7A, PCDH15
42hidrotic ectodermal dysplasia 210.0GJB6, GJB2, TUBA3C
43nonsyndromic deafness10.0MYO7A, GJB2, GJB6, OTOF, GJB3, PCDH15

Graphical network of the top 20 diseases related to Dfnb1:



Diseases related to dfnb1

Clinical Features for Dfnb1

Drugs & Therapeutics for Dfnb1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Dfnb1

Anatomical Context for Dfnb1

Animal Models for Dfnb1 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Dfnb1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.3MYO7A, PCDH15, GJB6, GJB2, OTOF
2MP:00053778.2MYO7A, PCDH15, GJB6, GJB2, OTOF
3MP:00030128.1MYO7A, GJB6, GJB3, GJB2, OTOF

Publications for Dfnb1

Sources:
51PubMed
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Articles related to Dfnb1:

(show top 50)    (show all 74)
idTitleAuthorsYear
1
Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications. (23700267)
2013
2
EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus. (23695287)
2013
3
The study of gene GJB2/DFNB1 causing deafness in humans by linkage analysis from district Peshawar. (23162298)
2012
4
Prevalence of mutations located at the dfnb1 locus in a population of cochlear implanted children in eastern Romania. (22070872)
2012
5
Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss. (22281373)
2012
6
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. (21940737)
2011
7
Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations. (21287563)
2011
8
Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss. (21586435)
2011
9
Influence of DFNB1 status on expressive language in deaf children with cochlear implants. (21956600)
2011
10
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect. (21776002)
2011
11
DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome. (20650534)
2010
12
Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2. (20022641)
2010
13
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. (20236118)
2010
14
Performance of speech perception after cochlear implantation in DFNB1 patients. (19051073)
2009
15
A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss. (19101659)
2009
16
Single nucleotide polymorphisms and haplotypes analysis of DFNB1 locus in Chinese sporadic hearing impairment population. (19719946)
2009
17
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. (19375528)
2009
18
Imaging correlation of children with DFNB1 vs non-DFNB1 hearing loss. (19393408)
2009
19
A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. (19270079)
2009
20
Infrequency of two deletion mutations at the DFNB1 locus in patients and controls. (18324688)
2008
21
A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15]. (18066515)
2008
22
Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity. (18758381)
2008
23
Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness. (17368814)
2007
24
Performance after cochlear implantation in DFNB1 patients. (17903576)
2007
25
Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment. (16300957)
2006
26
Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. (16773579)
2006
27
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness. (16941638)
2006
28
Relevance of connexin deafness (DFNB1) to human evolution. (15079193)
2004
29
Molecular epidemiology of DFNB1 deafness in France. (15070423)
2004
30
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. (14571368)
2003
31
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. (12107438)
2002
32
Clinical presentation of DFNB1. (12408072)
2002
33
Clinical presentation of DFNB12 and Usher syndrome type 1D. (12408077)
2002
34
Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations. (12080392)
2002
35
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. (11090341)
2001
36
Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2. (10767548)
2000
37
Mapping of the otogelin gene (OTGN) to mouse chromosome 7 and human chromosome 11p14.3: a candidate for human autosomal recessive nonsyndromic deafness DFNB18. (10337628)
1999
38
Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132. (10090914)
1999
39
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. (10218527)
1999
40
Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness. (9887371)
1998
41
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. (9529365)
1998
42
Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31. (9674898)
1998
43
A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36. (9781028)
1998
44
A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22. (9429146)
1997
45
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. (9285800)
1997
46
Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families. (9195157)
1997
47
Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. (8789457)
1996
48
Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. (8651303)
1996
49
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
50
Nonsyndromic Hearing Loss and Deafness, DFNB1 (20301449)
1993

Genetic Variations for Dfnb1

Expression for genes affiliated with Dfnb1

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dfnb1

Search GEO for disease gene expression data for Dfnb1.

Pathways for genes affiliated with Dfnb1

Sources:
54Reactome, 38NCBI BioSystems Database, 12EMD Millipore, 52QIAGEN, 30KEGG
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Compounds for genes affiliated with Dfnb1

Sources:
60Tocris Bioscience, 29IUPHAR, 24HMDB, 45Novoseek, 2BitterDB, 11DrugBank
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Compounds related to Dfnb1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gap 27609.4GJB2, GJB6, GJB3
2carbenoxolone disodium609.4GJB6, GJB3, GJB2
3scrambled 10panx609.3GJB6, GJB3, GJB2
410panx609.3GJB6, GJB3, GJB2
5octanol29 2410.2GJB2, GJB3, GJB6
6flufenamic acid45 29 2 1112.2GJB6, GJB3, GJB2
7carbenoxolone29 45 1111.1GJB2, GJB3, GJB6
8ca2+298.9GJB2, GJB3, GJB6

GO Terms for genes affiliated with Dfnb1

Sources:
16Gene Ontology
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Cellular components related to Dfnb1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:0017509.4PCDH15, MYO7A
2stereociliumGO:0324209.1PCDH15, MYO7A
3connexon complexGO:0059229.1GJB2, GJB3, GJB6

Biological processes related to Dfnb1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell communicationGO:0071549.6GJB6, GJB3
2equilibrioceptionGO:0509579.3PCDH15, MYO7A
3sensory perception of light stimulusGO:0509539.1PCDH15, MYO7A
4sensory perception of soundGO:0076057.7PCDH15, OTOF, GJB2, GJB3, GJB6, MYO7A

Molecular functions related to Dfnb1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:0052439.6GJB2, GJB3

Products for genes affiliated with Dfnb1

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Sources for Dfnb1

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet