MCID: DFN038
MIFTS: 34

Dfnb1 malady

Rare diseases, Ear diseases categories

Summaries for Dfnb1

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MalaCards based summary: Dfnb1, also known as deafness nonsyndromic, connexin 26 linked, is related to nonsyndromic deafness and sensorineural hearing loss. An important gene associated with Dfnb1 is GJB2 (gap junction protein, beta 2, 26kDa), and among its related pathways are Gap junction trafficking and Myometrial Relaxation and Contraction Pathways. The compounds 10panx and gap 27 have been mentioned in the context of this disorder. Affiliated tissues include testes, and related mouse phenotypes are nervous system and hearing/vestibular/ear.

Aliases & Classifications for Dfnb1

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Sources:
43NIH Rare Diseases, 45Novoseek, 62UMLS
See all sources

Dfnb1, Aliases & Descriptions:

Name: Dfnb1 43 45
Deafness Nonsyndromic, Connexin 26 Linked 43
Gjb2-Related Deafness 43
 
Complete Hearing Loss 62
Connexin 26 Deafness 43


Classifications:

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


Related Diseases for Dfnb1

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Graphical network of the top 20 diseases related to Dfnb1:



Diseases related to dfnb1

Symptoms for Dfnb1

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Drugs & Therapeutics for Dfnb1

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Drug clinical trials:

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Genetic Tests for Dfnb1

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Anatomical Context for Dfnb1

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MalaCards organs/tissues related to Dfnb1:

33
Testes

Animal Models for Dfnb1 or affiliated genes

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MGI Mouse Phenotypes related to Dfnb1:

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

Publications for Dfnb1

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Articles related to Dfnb1:

(show all 41)
idTitleAuthorsYear
1
Connexin-Related (DFNB1) Hearing Loss: Is Routine Computed Tomography Imaging Necessary? (25583854)
2015
2
Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications. (23700267)
2013
3
EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus. (23695287)
2013
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
Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations. (21287563)
2011
7
Vestibular dysfunction in DFNB1 deafness. (21465647)
2011
8
Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss. (21586435)
2011
9
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment. (21622233)
2011
10
Influence of DFNB1 status on expressive language in deaf children with cochlear implants. (21956600)
2011
11
Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2. (20022641)
2010
12
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. (20236118)
2010
13
Performance of speech perception after cochlear implantation in DFNB1 patients. (19051073)
2009
14
A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss. (19101659)
2009
15
Single nucleotide polymorphisms and haplotypes analysis of DFNB1 locus in Chinese sporadic hearing impairment population. (19719946)
2009
16
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. (19375528)
2009
17
Imaging correlation of children with DFNB1 vs non-DFNB1 hearing loss. (19393408)
2009
18
Infrequency of two deletion mutations at the DFNB1 locus in patients and controls. (18324688)
2008
19
Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity. (18758381)
2008
20
Performance after cochlear implantation in DFNB1 patients. (17903576)
2007
21
Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. (16773579)
2006
22
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness. (16941638)
2006
23
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. (15994881)
2005
24
Relevance of connexin deafness (DFNB1) to human evolution. (15079193)
2004
25
Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations. (15274422)
2004
26
Molecular epidemiology of DFNB1 deafness in France. (15070423)
2004
27
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. (14571368)
2003
28
Clinical presentation of DFNB1. (12408072)
2002
29
Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations. (12080392)
2002
30
Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT. (10903123)
2000
31
Mapping of the DFNB1 locus. (10868223)
2000
32
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. (10218527)
1999
33
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. (9529365)
1998
34
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. (9285800)
1997
35
Contribution of DFNB1 and DFNB2 loci to neurosensory deafness in affected Tunisian families. (15945170)
1997
36
Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families. (9195157)
1997
37
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
38
The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population. (7668291)
1995
39
Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. (7573061)
1995
40
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
41
Nonsyndromic Hearing Loss and Deafness, DFNB1 (20301449)
1993

Variations for Dfnb1

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Expression for genes affiliated with Dfnb1

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Search GEO for disease gene expression data for Dfnb1.

Pathways for genes affiliated with Dfnb1

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Compounds for genes affiliated with Dfnb1

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Compounds related to Dfnb1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
110panx619.4GJB3, GJB6, GJB2
2gap 27619.4GJB6, GJB2, GJB3
3carbenoxolone disodium619.3GJB6, GJB2, GJB3
4scrambled 10panx619.3GJB6, GJB2, GJB3
5octanol30 2610.2GJB6, GJB2, GJB3
6flufenamic acid30 45 3 1312.2GJB3, GJB2, GJB6
7carbenoxolone45 30 1311.1GJB3, GJB2, GJB6
8ca2+308.9GJB6, GJB2, GJB3

GO Terms for genes affiliated with Dfnb1

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Cellular components related to Dfnb1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1stereociliumGO:00324209.4PCDH15, MYO7A
2synapseGO:00452029.4PCDH15, MYO7A
3photoreceptor outer segmentGO:00017509.3PCDH15, MYO7A
4connexon complexGO:00059229.3GJB3, GJB2, GJB6
5integral component of membraneGO:00160217.9PCDH15, GJB6, GJB2, GJB3, OTOF

Biological processes related to Dfnb1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell communicationGO:00071549.6GJB3, GJB6
2equilibrioceptionGO:00509579.3MYO7A, PCDH15
3sensory perception of light stimulusGO:00509539.1PCDH15, MYO7A
4sensory perception of soundGO:00076057.7OTOF, GJB3, GJB2, GJB6, PCDH15, MYO7A

Molecular functions related to Dfnb1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:00052439.6GJB3, GJB2

Products for genes affiliated with Dfnb1

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Sources for Dfnb1

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet