MCID: DFN038
MIFTS: 30

Dfnb1 malady

Categories: Rare diseases, Ear diseases

Aliases & Classifications for Dfnb1

About this section

Aliases & Descriptions for Dfnb1:

Name: Dfnb1 45 47
Deafness Nonsyndromic, Connexin 26 Linked 45
 
Gjb2-Related Deafness 45
Connexin 26 Deafness 45

Classifications:



Summaries for Dfnb1

About this section
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 are Myometrial Relaxation and Contraction Pathways and Gap junction trafficking. Affiliated tissues include prostate, thyroid and breast, and related mouse phenotypes are no phenotypic analysis and integument.

Related Diseases for Dfnb1

About this section

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1nonsyndromic hearing loss and deafness, dfnb133.8GJB2, GJB6
2dfnb 1 nonsyndromic hearing loss and deafness10.9
3gjb2-related dfnb 1 nonsyndromic hearing loss and deafness10.9
4gjb6-related dfnb 1 nonsyndromic hearing loss and deafness10.9
5myocardial infarction 210.5GJB2, GJB6
6congenital deafness with vitiligo and achalasia10.4GJB2, GJB6
7charcot-marie-tooth disease, type 1a10.4GJB2, MYO7A
8deafness, autosomal dominant 1110.4GJB2, MYO7A
9pseudoaminopterin syndrome10.4GJB3, GJB6
10ectodermal dysplasia 2, clouston type10.4GJB2, GJB6
11spastic paraplegia 50, autosomal recessive10.2GJB2, GJB3
12deafness, autosomal recessive 210.2MYO7A, PCDH15
13deafness, autosomal dominant 3a10.1GJB2, GJB3, GJB6
14syndactyly, type iii10.1GJB2, GJB3
15kidney cancer, childhood10.1GJB2, GJB3, GJB6
16metagonimiasis10.1GJB2, GJB3, GJB6
17deafness, autosomal recessive 2310.1MYO7A, PCDH15
18erythrokeratodermia variabilis et progressiva10.1GJB2, GJB3, GJB6
19dihydrolipoamide dehydrogenase deficiency10.1GJB2, GJB3, GJB6
20amelogenesis imperfecta, type ig10.1MYO7A, PCDH15
21nonsyndromic deafness10.0
22palmoplantar keratoderma, epidermolytic10.0GJB2, GJB3
23small intestine lymphoma10.0GJB2, GJB3, GJB6
24auditory perceptual disorder10.0GJB2, GJB6, OTOF
25familial partial lipodystrophy10.0MYO7A, PCDH15
26acute hydrops keratoconus9.9GJB2, GJB6
27sensorineural hearing loss9.9
28limb-girdle muscular dystrophy9.9
29muscular dystrophy9.9
30nonsyndromic hearing loss and deafness9.9
31acral persistent papular mucinosis9.8GJB2, GJB3, GJB6, MYO7A
32pulmonary tuberculosis9.8GJB2, GJB3, GJB6, MYO7A
33nonsyndromic hearing loss and deafness, mitochondrial9.7GJB2, GJB3, GJB6, POU3F4
34nonsyndromic hearing loss and deafness, autosomal dominant9.7GJB2, GJB3, GJB6, POU3F4
35troyer syndrome9.5GJB2, GJB3, GJB6, TUBA3C
36thyroid lymphoma9.3GJB2, GJB3, GJB6, MYO7A, OTOF
37autosomal dominant nonsyndromic deafness8.9GJB2, GJB3, GJB6, MYO7A, PCDH15, POU3F4
38self-healing papular mucinosis8.8GJB2, GJB3, GJB6, MYO7A, OTOF, PCDH15
39pyeloureteritis cystica8.4GJB2, GJB3, GJB6, MYO7A, OTOF, PCDH15
40dhdds-cdg7.0DFNB33, GJB2, GJB3, GJB6, MYO7A, OTOF

Graphical network of the top 20 diseases related to Dfnb1:



Diseases related to dfnb1

Symptoms for Dfnb1

About this section

Drugs & Therapeutics for Dfnb1

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Prevalence of Hearing Loss Among Children With Congenital HypothyroidismWithdrawnNCT01223638

Search NIH Clinical Center for Dfnb1

Genetic Tests for Dfnb1

About this section

Anatomical Context for Dfnb1

About this section

MalaCards organs/tissues related to Dfnb1:

33
Prostate, Thyroid, Breast, Testes, Neutrophil, Endothelial, B cells

Animal Models for Dfnb1 or affiliated genes

About this section

MGI Mouse Phenotypes related to Dfnb1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.6GJB2, GJB3, GJB6, MYO7A, OTOF
2MP:00107718.6GJB2, GJB3, GJB6, MYO7A, POU3F4
3MP:00053777.9GJB2, GJB6, MYO7A, OTOF, PCDH15, POU3F4
4MP:00036317.8GJB2, GJB6, MYO7A, OTOF, PCDH15, POU3F4

Publications for Dfnb1

About this section

Articles related to Dfnb1:

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

Variations for Dfnb1

About this section

Expression for genes affiliated with Dfnb1

About this section
Search GEO for disease gene expression data for Dfnb1.

Pathways for genes affiliated with Dfnb1

About this section

GO Terms for genes affiliated with Dfnb1

About this section

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

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:00163249.8GJB6, MYO7A

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

idNameGO IDScoreTop Affiliating Genes
1cell communicationGO:000715410.0GJB2, GJB6
2sensory perception of soundGO:00076059.4GJB2, GJB3, GJB6

Sources for Dfnb1

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet