MCID: DFN038
MIFTS: 29

Dfnb1

Categories: Rare diseases, Ear diseases

Aliases & Classifications for Dfnb1

MalaCards integrated aliases for Dfnb1:

Name: Dfnb1 49 51
Deafness Nonsyndromic, Connexin 26 Linked 49
Gjb2-Related Deafness 49
Connexin 26 Deafness 49

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases


Summaries for Dfnb1

MalaCards based summary : Dfnb1, also known as deafness nonsyndromic, connexin 26 linked, is related to deafness, autosomal recessive 2 and sensorineural hearing loss. An important gene associated with Dfnb1 is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways is Gap junction trafficking. Affiliated tissues include testes and bone, and related phenotypes are hearing/vestibular/ear and no phenotypic analysis

Related Diseases for Dfnb1

Diseases related to Dfnb1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 2 29.6 GJB2 MYO7A OTOF
2 sensorineural hearing loss 29.4 GJB2 GJB6 MYO7A OTOF
3 nonsyndromic deafness 27.9 GJB2 GJB6 MYO7A OTOF PCDH15 TUBA3C
4 nonsyndromic hearing loss and deafness, dfnb1 12.0
5 branchiootic syndrome 1 10.5
6 deafness, autosomal recessive 1b 10.3 GJB2 GJB6
7 deafness, autosomal dominant 24 10.3 GJB2 GJB6
8 deafness, x-linked 2 10.3 GJB2 GJB6
9 kid syndrome 10.3 GJB2 GJB6
10 pseudoainhum 10.3 GJB2 GJB6
11 knuckle pads, leukonychia, and sensorineural deafness 10.3 GJB2 GJB6
12 deafness, autosomal recessive 1a 10.3 GJB2 GJB6
13 congenital cytomegalovirus 10.3 GJB2 GJB6
14 deafness, autosomal recessive 3 10.3 GJB2 MYO7A
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
16 hodgkin's lymphoma, nodular sclerosis 10.3 GJB2 GJB6
17 vohwinkel syndrome 10.3 GJB2 GJB6
18 knuckle pads 10.3 GJB2 GJB6
19 vestibular disease 10.2 GJB2 GJB6
20 deafness, autosomal recessive 59 10.2 GJB2 OTOF
21 erythrokeratodermia variabilis et progressiva 1 10.2 GJB2 GJB6
22 auditory neuropathy, autosomal dominant, 1 10.2 GJB2 OTOF
23 deafness, autosomal recessive 6 10.2 GJB2 MYO7A
24 deafness, autosomal recessive 30 10.2 GJB2 MYO7A
25 deafness, autosomal recessive 9 10.2 GJB2 OTOF
26 deafness, autosomal recessive 26 10.2 GJB2 OTOF
27 usher syndrome, type ig 10.2 MYO7A PCDH15
28 usher syndrome, type if 10.1 MYO7A PCDH15
29 deafness, autosomal recessive 63 10.1 GJB2 MYO7A
30 keratitis, hereditary 10.1 GJB2 GJB6
31 usher syndrome, type id 10.1 MYO7A PCDH15
32 deafness, autosomal recessive 85 10.1 MYO7A OTOF
33 deafness, autosomal recessive 83 10.1 MYO7A OTOF
34 autosomal recessive nonsyndromic deafness 10.1 GJB2 OTOF
35 usher syndrome, type iid 10.0 MYO7A PCDH15
36 usher syndrome, type iiia 10.0 MYO7A PCDH15
37 corneal disease 10.0 GJB2 GJB6
38 usher syndrome, type iic 10.0 MYO7A PCDH15
39 autosomal dominant non-syndromic sensorineural deafness type dfna 10.0 GJB2 GJB6 MYO7A
40 inner ear disease 10.0 GJB2 GJB6 MYO7A
41 non-syndromic genetic deafness 9.9 GJB2 GJB6 OTOF
42 usher syndrome type 2 9.9 MYO7A PCDH15
43 deafness, autosomal dominant 2a 9.9 GJB2 GJB6 PCDH15
44 deafness, autosomal recessive 23 9.9 GJB2 MYO7A PCDH15
45 autosomal recessive nonsyndromic deafness 3 9.9 GJB2 MYO7A OTOF
46 deafness, autosomal dominant 6 9.9 GJB2 MYO7A OTOF
47 deafness, autosomal dominant 13 9.9 GJB2 MYO7A OTOF
48 autosomal dominant nonsyndromic deafness 9.9 GJB2 MYO7A OTOF
49 usher syndrome 9.9 GJB2 MYO7A PCDH15
50 muscular dystrophy, limb-girdle, type 2c 9.8

Graphical network of the top 20 diseases related to Dfnb1:



Diseases related to Dfnb1

Symptoms & Phenotypes for Dfnb1

MGI Mouse Phenotypes related to Dfnb1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.35 GJB2 GJB6 MYO7A OTOF PCDH15
2 no phenotypic analysis MP:0003012 8.92 GJB2 GJB6 MYO7A OTOF

Drugs & Therapeutics for Dfnb1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism Withdrawn NCT01223638

Search NIH Clinical Center for Dfnb1

Genetic Tests for Dfnb1

Anatomical Context for Dfnb1

MalaCards organs/tissues related to Dfnb1:

38
Testes, Bone

Publications for Dfnb1

Articles related to Dfnb1:

(show all 47)
# Title Authors Year
1
DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes. ( 29311818 )
2017
2
Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not? ( 27057829 )
2016
3
Genetic Basis of Nonsyndromic Sensorineural Hearing Loss in the Sub-Saharan African Island Population of SALo TomAc and PrA-ncipe: The Role of the DFNB1 Locus? ( 27501294 )
2016
4
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. ( 26444186 )
2015
5
Vestibular function and temporal bone imaging in DFNB1. ( 26188104 )
2015
6
Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population. ( 26061264 )
2015
7
Connexin-Related (DFNB1) Hearing Loss: Is Routine Computed Tomography Imaging Necessary? ( 25583854 )
2015
8
Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications. ( 23700267 )
2013
9
EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus. ( 23695287 )
2013
10
Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss. ( 22281373 )
2012
11
Prevalence of mutations located at the dfnb1 locus in a population of cochlear implanted children in eastern Romania. ( 22070872 )
2012
12
Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations. ( 21287563 )
2011
13
Vestibular dysfunction in DFNB1 deafness. ( 21465647 )
2011
14
Influence of DFNB1 status on expressive language in deaf children with cochlear implants. ( 21956600 )
2011
15
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment. ( 21622233 )
2011
16
Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss. ( 21586435 )
2011
17
Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2. ( 20022641 )
2010
18
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. ( 20236118 )
2010
19
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. ( 19375528 )
2009
20
Performance of speech perception after cochlear implantation in DFNB1 patients. ( 19051073 )
2009
21
A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss. ( 19101659 )
2009
22
Single nucleotide polymorphisms and haplotypes analysis of DFNB1 locus in Chinese sporadic hearing impairment population. ( 19719946 )
2009
23
Imaging correlation of children with DFNB1 vs non-DFNB1 hearing loss. ( 19393408 )
2009
24
Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity. ( 18758381 )
2008
25
Infrequency of two deletion mutations at the DFNB1 locus in patients and controls. ( 18324688 )
2008
26
Performance after cochlear implantation in DFNB1 patients. ( 17903576 )
2007
27
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness. ( 16941638 )
2006
28
Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. ( 16773579 )
2006
29
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
30
Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations. ( 15274422 )
2004
31
Molecular epidemiology of DFNB1 deafness in France. ( 15070423 )
2004
32
Relevance of connexin deafness (DFNB1) to human evolution. ( 15079193 )
2004
33
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. ( 14571368 )
2003
34
Clinical presentation of DFNB1. ( 12408072 )
2002
35
Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations. ( 12080392 )
2002
36
Mapping of the DFNB1 locus. ( 10868223 )
2000
37
Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT. ( 10903123 )
2000
38
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. ( 10218527 )
1999
39
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. ( 9529365 )
1998
40
Contribution of DFNB1 and DFNB2 loci to neurosensory deafness in affected Tunisian families. ( 15945170 )
1997
41
Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families. ( 9195157 )
1997
42
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. ( 9285800 )
1997
43
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
44
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
45
The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population. ( 7668291 )
1995
46
Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. ( 7573061 )
1995
47
Nonsyndromic Hearing Loss and Deafness, DFNB1 ( 20301449 )
1993

Variations for Dfnb1

Expression for Dfnb1

Search GEO for disease gene expression data for Dfnb1.

Pathways for Dfnb1

Pathways related to Dfnb1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.61 GJB2 GJB6

GO Terms for Dfnb1

Cellular components related to Dfnb1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.5 MYO7A OTOF PCDH15
2 photoreceptor outer segment GO:0001750 9.26 MYO7A PCDH15
3 stereocilium GO:0032420 9.16 MYO7A PCDH15
4 gap junction GO:0005921 8.96 GJB2 GJB6
5 connexin complex GO:0005922 8.62 GJB2 GJB6

Biological processes related to Dfnb1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell communication GO:0007154 9.43 GJB2 GJB6
2 inner ear receptor cell stereocilium organization GO:0060122 9.4 MYO7A PCDH15
3 auditory receptor cell stereocilium organization GO:0060088 9.37 MYO7A PCDH15
4 sensory perception of light stimulus GO:0050953 9.32 MYO7A PCDH15
5 inner ear auditory receptor cell differentiation GO:0042491 9.26 MYO7A PCDH15
6 inner ear development GO:0048839 9.26 GJB2 GJB6 MYO7A PCDH15
7 equilibrioception GO:0050957 9.16 MYO7A PCDH15
8 sensory perception of sound GO:0007605 9.02 GJB2 GJB6 MYO7A OTOF PCDH15

Sources for Dfnb1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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