DFNB1
MCID: DFN038
MIFTS: 29

Dfnb1 (DFNB1)

Categories: Ear diseases, Rare diseases

Aliases & Classifications for Dfnb1

MalaCards integrated aliases for Dfnb1:

Name: Dfnb1 53 55
Deafness Nonsyndromic, Connexin 26 Linked 53
Gjb2-Related Deafness 53
Connexin 26 Deafness 53

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 sensorineural hearing loss and nonsyndromic deafness. 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 bone and testes, and related phenotypes are hearing/vestibular/ear and no phenotypic analysis

Wikipedia : 76 Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) �?? is a protein that in humans is... more...

Related Diseases for Dfnb1

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 sensorineural hearing loss 29.6 GJB2 GJB6 MYO7A OTOF PCDH15
2 nonsyndromic deafness 29.2 GJB2 GJB6 MYO7A OTOF PCDH15 TUBA3C
3 nonsyndromic hearing loss and deafness, dfnb1 12.2
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
5 deafness, autosomal dominant 24 10.2 GJB2 GJB6
6 kid syndrome 10.2 GJB2 GJB6
7 deafness, autosomal recessive 3 10.1 GJB2 MYO7A
8 pseudoainhum 10.1 GJB2 GJB6
9 knuckle pads 10.1 GJB2 GJB6
10 knuckle pads, leukonychia, and sensorineural deafness 10.1 GJB2 GJB6
11 deafness, x-linked 2 10.1 GJB2 GJB6
12 hodgkin's lymphoma, nodular sclerosis 10.1 GJB2 GJB6
13 autosomal recessive nonsyndromic deafness 10.1 GJB2 OTOF
14 vohwinkel syndrome 10.1 GJB2 GJB6
15 congenital cytomegalovirus 10.1 GJB2 GJB6
16 deafness, autosomal recessive 59 10.1 GJB2 OTOF
17 auditory neuropathy, autosomal dominant, 1 10.1 GJB2 OTOF
18 vestibular disease 10.1 GJB2 GJB6
19 auditory neuropathy spectrum disorder 10.1 MYO7A OTOF
20 deafness, autosomal recessive 9 10.1 GJB2 OTOF
21 retinitis pigmentosa-deafness syndrome 10.1 MYO7A PCDH15
22 erythrokeratodermia variabilis et progressiva 1 10.1 GJB2 GJB6
23 deafness, autosomal recessive 6 10.1 GJB2 MYO7A
24 usher syndrome, type i 10.1 MYO7A PCDH15
25 usher syndrome, type ig 10.1 MYO7A PCDH15
26 usher syndrome, type if 10.1 MYO7A PCDH15
27 deafness, autosomal recessive 26 10.1 GJB2 OTOF
28 deafness, autosomal recessive 30 10.0 GJB2 MYO7A
29 usher syndrome, type id 10.0 MYO7A PCDH15
30 deafness, autosomal recessive 85 10.0 MYO7A OTOF
31 deafness, autosomal recessive 83 10.0 MYO7A OTOF
32 muscular dystrophy, limb-girdle, autosomal recessive 5 10.0
33 muscular dystrophy 10.0
34 limb-girdle muscular dystrophy 10.0
35 keratitis, hereditary 10.0 GJB2 GJB6
36 inner ear disease 10.0 GJB2 GJB6 MYO7A
37 usher syndrome, type iid 10.0 MYO7A PCDH15
38 deafness, autosomal recessive 1a 10.0 GJB2 GJB6 OTOF
39 usher syndrome, type iiia 10.0 MYO7A PCDH15
40 deafness, autosomal dominant 2a 10.0 GJB2 GJB6 PCDH15
41 deafness, autosomal recessive 2 10.0 GJB2 MYO7A OTOF
42 usher syndrome, type iic 10.0 MYO7A PCDH15
43 deafness, autosomal recessive 12 10.0 GJB2 MYO7A PCDH15
44 autosomal recessive nonsyndromic deafness 3 9.9 GJB2 MYO7A OTOF
45 deafness, autosomal dominant 6 9.9 GJB2 MYO7A OTOF
46 branchiootic syndrome 1 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 deafness, autosomal recessive 33 9.9 DFNB33 GJB2 PCDH15

Graphical network of the top 20 diseases related to Dfnb1:



Diseases related to Dfnb1

Symptoms & Phenotypes for Dfnb1

MGI Mouse Phenotypes related to Dfnb1:

46
# 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:

41
Bone, Testes

Publications for Dfnb1

Articles related to Dfnb1:

(show top 50) (show all 62)
# Title Authors Year
1
Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India. ( 29921236 )
2018
2
Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions. ( 28405014 )
2017
3
DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes. ( 29311818 )
2017
4
Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not? ( 27057829 )
2016
5
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
6
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. ( 26444186 )
2015
7
Connexin-Related (DFNB1) Hearing Loss: Is Routine Computed Tomography Imaging Necessary? ( 25583854 )
2015
8
Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population. ( 26061264 )
2015
9
Vestibular function and temporal bone imaging in DFNB1. ( 26188104 )
2015
10
Speech Perception Outcomes after Cochlear Implantation in Children with GJB2/DFNB1 associated Deafness. ( 25207169 )
2014
11
Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications. ( 23700267 )
2013
12
EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus. ( 23695287 )
2013
13
Prevalence of mutations located at the dfnb1 locus in a population of cochlear implanted children in eastern Romania. ( 22070872 )
2012
14
Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss. ( 22281373 )
2012
15
The study of gene GJB2/DFNB1 causing deafness in humans by linkage analysis from district Peshawar. ( 23162298 )
2012
16
Influence of DFNB1 status on expressive language in deaf children with cochlear implants. ( 21956600 )
2011
17
Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations. ( 21287563 )
2011
18
Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss. ( 21586435 )
2011
19
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment. ( 21622233 )
2011
20
Vestibular dysfunction in DFNB1 deafness. ( 21465647 )
2011
21
DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome. ( 20650534 )
2010
22
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. ( 20236118 )
2010
23
Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2. ( 20022641 )
2010
24
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. ( 19375528 )
2009
25
Performance of speech perception after cochlear implantation in DFNB1 patients. ( 19051073 )
2009
26
Single nucleotide polymorphisms and haplotypes analysis of DFNB1 locus in Chinese sporadic hearing impairment population. ( 19719946 )
2009
27
Imaging correlation of children with DFNB1 vs non-DFNB1 hearing loss. ( 19393408 )
2009
28
Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients. ( 19715472 )
2009
29
A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss. ( 19101659 )
2009
30
Infrequency of two deletion mutations at the DFNB1 locus in patients and controls. ( 18324688 )
2008
31
Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity. ( 18758381 )
2008
32
Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree. ( 17661817 )
2007
33
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
34
Performance after cochlear implantation in DFNB1 patients. ( 17903576 )
2007
35
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness. ( 16941638 )
2006
36
Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. ( 16773579 )
2006
37
Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment. ( 16300957 )
2006
38
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
39
Cochlear implantation for children with GJB2-related deafness. ( 15280719 )
2004
40
Relevance of connexin deafness (DFNB1) to human evolution. ( 15079193 )
2004
41
Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations. ( 15274422 )
2004
42
Molecular epidemiology of DFNB1 deafness in France. ( 15070423 )
2004
43
Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States. ( 12925341 )
2003
44
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. ( 14571368 )
2003
45
Performance of cochlear implant recipients with GJB2-related deafness. ( 11977173 )
2002
46
Clinical presentation of DFNB1. ( 12408072 )
2002
47
Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations. ( 12080392 )
2002
48
Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT. ( 10903123 )
2000
49
Mapping of the DFNB1 locus. ( 10868223 )
2000
50
Pseudodominant inheritance of DFNB1 deafness due to the common 35delG mutation. ( 10782932 )
2000

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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