DFNB1
MCID: DFN038
MIFTS: 29

Dfnb1 (DFNB1) malady

Categories: Rare diseases, Ear diseases

Aliases & Classifications for Dfnb1

Aliases & Descriptions for Dfnb1:

Name: Dfnb1 50 52
Deafness Nonsyndromic, Connexin 26 Linked 50
Gjb2-Related Deafness 50
Connexin 26 Deafness 50

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 nonsyndromic hearing loss and deafness, dfnb1 and dfnb 1 nonsyndromic hearing loss and deafness. An important gene associated with Dfnb1 is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Development Slit-Robo signaling and Myometrial Relaxation and Contraction Pathways. 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 67)
id Related Disease Score Top Affiliating Genes
1 nonsyndromic hearing loss and deafness, dfnb1 11.9
2 dfnb 1 nonsyndromic hearing loss and deafness 10.8
3 gjb2-related dfnb 1 nonsyndromic hearing loss and deafness 10.8
4 gjb6-related dfnb 1 nonsyndromic hearing loss and deafness 10.8
5 dnase1-related susceptibility to systemic lupus erythematosus 10.3 GJB2 GJB6
6 down syndrome-related congenital heart disease 10.3 GJB2 GJB6
7 spastic ataxia, charlevoix-saguenay type 10.3 GJB2 GJB6
8 pik3ca-related segmental overgrowth 10.3 GJB2 GJB6
9 bietti crystalline corneoretinal dystrophy 10.3 GJB2 GJB6
10 ectodermal dysplasia 2, clouston type 10.2 GJB2 GJB6
11 hereditary thrombocytosis with transverse limb defect 10.2 GJB2 GJB3
12 troyer syndrome 10.2 GJB2 GJB6
13 congenital herpes simplex 10.2 GJB2 GJB6
14 mental retardation, autosomal dominant 34 10.2 GJB2 POU3F4
15 pigmented nodular adrenocortical disease, primary, 2 10.2 GJB2 OTOF
16 ehlers-danlos syndrome, type viib 10.2 GJB2 GJB3
17 preterm premature rupture of the membranes 10.2 GJB2 MYO7A
18 panic disorder 3 10.2 GJB2 OTOF
19 hirschsprung disease 2 10.2 GJB2 OTOF
20 xanthinuria, type i 10.2 GJB2 OTOF
21 leprosy 4 10.2 GJB2 GJB3
22 robinow syndrome, autosomal dominant 1 10.2 GJB2 MYO7A
23 omenn syndrome 10.1 GJB2 MYO7A
24 keratoderma, palmoplantar, with deafness 10.1 GJB2 GJB3 GJB6
25 klumpke paralysis 10.1 GJB2 GJB3 GJB6
26 pseudomyotonia 10.1 GJB2 GJB3 GJB6
27 molluscum contagiosum 10.1 GJB2 GJB3 GJB6
28 erythrokeratodermia variabilis et progressiva 10.1 GJB2 GJB3 GJB6
29 cardiomyopathy, dilated, 1kk 10.1 MYO7A PCDH15
30 autism susceptibility 17 10.1 GJB2 MYO7A
31 pierre robin syndrome 10.1 MYO7A PCDH15
32 manitoba oculotrichoanal syndrome 10.1 MYO7A OTOF
33 solitary bone cyst 10.1 GJB2 GJB3 GJB6
34 sjogren-larsson syndrome 10.1 MYO7A OTOF
35 usher syndrome, type 1f 10.1 MYO7A PCDH15
36 deafness, autosomal dominant 2a 10.1 GJB2 GJB6 PCDH15
37 autoimmune gastrointestinal dysmotility 10.1 GJB2 GJB6 OTOF
38 46xy sex reversal 3 10.0 MYO7A PCDH15
39 charcot-marie-tooth disease, type 1d 10.0 GJB2 MYO7A PCDH15
40 autosomal dominant nonsyndromic deafness 69 10.0 GJB2 MYO7A OTOF
41 autosomal recessive nonsyndromic deafness 97 10.0 GJB2 MYO7A OTOF
42 deafness, autosomal recessive 23 10.0 GJB2 MYO7A PCDH15
43 fibrochondrogenesis 2 10.0 GJB2 MYO7A OTOF
44 seckel syndrome 10.0 GJB2 MYO7A OTOF
45 deafness, autosomal recessive 10.0 GJB3 OTOF
46 dyskeratosis congenita, autosomal dominant 1 10.0 MYO7A PCDH15
47 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 10.0 MYO7A PCDH15
48 carotid artery thrombosis 10.0 GJB2 GJB3
49 usher syndrome, type ik 10.0 DFNB33 GJB2 PCDH15
50 cockayne syndrome 10.0 GJB2 GJB3 GJB6 MYO7A

Graphical network of the top 20 diseases related to Dfnb1:



Diseases related to Dfnb1

Symptoms & Phenotypes for Dfnb1

MGI Mouse Phenotypes related to Dfnb1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.43 PCDH15 POU3F4 GJB2 GJB6 MYO7A OTOF
2 no phenotypic analysis MP:0003012 9.02 GJB2 GJB3 GJB6 MYO7A OTOF

Drugs & Therapeutics for Dfnb1

Interventional clinical trials:


id Name Status NCT ID Phase
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:

39
Testes, Bone

Publications for Dfnb1

Articles related to Dfnb1:

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

GO Terms for Dfnb1

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

id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.56 GJB2 GJB3 GJB6 OTOF
2 photoreceptor outer segment GO:0001750 9.32 MYO7A PCDH15
3 stereocilium GO:0032420 9.16 MYO7A PCDH15
4 gap junction GO:0005921 9.13 GJB2 GJB3 GJB6
5 connexin complex GO:0005922 8.8 GJB2 GJB3 GJB6

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

id Name GO ID Score Top Affiliating Genes
1 inner ear receptor stereocilium organization GO:0060122 9.43 MYO7A PCDH15
2 auditory receptor cell stereocilium organization GO:0060088 9.4 MYO7A PCDH15
3 sensory perception of light stimulus GO:0050953 9.37 MYO7A PCDH15
4 inner ear development GO:0048839 9.35 GJB2 GJB6 MYO7A PCDH15 POU3F4
5 cell communication GO:0007154 9.33 GJB2 GJB3 GJB6
6 auditory receptor cell differentiation GO:0042491 9.32 MYO7A PCDH15
7 equilibrioception GO:0050957 9.26 MYO7A PCDH15
8 sensory perception of sound GO:0007605 9.1 GJB2 GJB6 MYO7A OTOF PCDH15 POU3F4

Molecular functions related to Dfnb1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJB2 GJB3

Sources for Dfnb1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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