MCID: DFN038
MIFTS: 27

Dfnb1 malady

Rare diseases, Ear diseases categories

Aliases & Classifications for Dfnb1

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Sources:
45NIH Rare Diseases, 47Novoseek
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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

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MalaCards based summary: Dfnb1, also known as deafness nonsyndromic, connexin 26 linked, is related to nonsyndromic hearing loss and deafness, dfnb1 and nonsyndromic deafness. An important gene associated with Dfnb1 is GJB2 (Gap Junction Protein, Beta 2, 26kDa), and among its related pathways are Myometrial Relaxation and Contraction Pathways and Gap junction trafficking. Affiliated tissues include testes and bone, and related mouse phenotypes are no phenotypic analysis and hearing/vestibular/ear.

Related Diseases for Dfnb1

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

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1nonsyndromic hearing loss and deafness, dfnb131.0GJB2, GJB6
2nonsyndromic deafness10.2
3congenital deafness with vitiligo and achalasia10.2GJB2, GJB6
4ectodermal dysplasia 2, clouston type10.2GJB2, GJB6
5bart-pumphrey syndrome10.2GJB2, GJB6
6usher syndrome, type 1f10.1MYO7A, PCDH15
7amelogenesis imperfecta, type ig10.1MYO7A, PCDH15
8lethal encephalopathy due to mitochondrial and peroxisomal fission defect10.1GJB2, GJB3
9usher syndrome, type 1b10.1MYO7A, PCDH15
10sensorineural hearing loss10.1
11limb-girdle muscular dystrophy10.1
12muscular dystrophy10.1
13dfnb 1 nonsyndromic hearing loss and deafness10.1
14nonsyndromic hearing loss and deafness10.1
15gjb2-related dfnb 1 nonsyndromic hearing loss and deafness10.1
16gjb6-related dfnb 1 nonsyndromic hearing loss and deafness10.1
17walker-warburg syndrome10.0GJB2, GJB3
18inosine triphosphate pyrophosphohydrolase deficiency10.0MYO7A, PCDH15
19deafness, autosomal recessive 1a10.0GJB2, GJB3, GJB6
20hemangioma, hereditary10.0GJB2, GJB3, GJB6
21oculodentodigital dysplasia10.0GJB2, GJB3
22pseudoaminopterin syndrome10.0GJB2, GJB3, GJB6
23kienbock's disease10.0GJB2, GJB3, GJB6
24colon carcinoma in situ10.0GJB2, GJB3, GJB6
25deafness, autosomal recessive 4, with enlarged vestibular aqueduct10.0GJB2, GJB3, GJB6
26erythrokeratodermia variabilis et progressiva10.0GJB2, GJB3, GJB6
27auditory perceptual disorder10.0GJB2, GJB6, OTOF
28palmoplantar keratoderma, nonepidermolytic10.0GJB2, GJB3
29small intestine lymphoma9.9GJB2, GJB3, GJB6
30pancoast tumor9.9GJB2, GJB3
31arrhythmogenic right ventricular cardiomyopathy9.9GJB2, GJB6, MYO7A, PCDH15
32intermediate uveitis9.9GJB2, GJB3, GJB6, MYO7A
33acral persistent papular mucinosis9.9GJB2, GJB3, GJB6, MYO7A
34nonsyndromic hearing loss and deafness, mitochondrial9.8GJB2, GJB3, GJB6, POU3F4
35nonsyndromic hearing loss and deafness, autosomal dominant9.8GJB2, GJB3, GJB6, POU3F4
36troyer syndrome9.7GJB2, GJB3, GJB6, TUBA3C
37acoustic neuroma9.7GJB2, GJB3, GJB6, MYO7A, OTOF
38nose disease9.5GJB2, GJB3, GJB6, MYO7A, PCDH15, POU3F4
39self-healing papular mucinosis9.5GJB2, GJB3, GJB6, MYO7A, OTOF, PCDH15
40autism spectrum disorder9.3GJB2, GJB3, GJB6, MYO7A, OTOF, PCDH15
41dhdds-cdg8.7DFNB33, GJB2, GJB3, GJB6, MYO7A, OTOF

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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Interventional clinical trials:

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

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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, Bone

Animal Models for Dfnb1 or affiliated genes

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MGI Mouse Phenotypes related to Dfnb1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.1GJB2, GJB3, GJB6, MYO7A, OTOF
2MP:00053778.0GJB2, GJB6, MYO7A, OTOF, PCDH15, POU3F4

Publications for Dfnb1

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Articles related to Dfnb1:

(show all 44)
idTitleAuthorsYear
1
Vestibular function and temporal bone imaging in DFNB1. (26188104)
2015
2
Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population. (26061264)
2015
3
Connexin-Related (DFNB1) Hearing Loss: Is Routine Computed Tomography Imaging Necessary? (25583854)
2015
4
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. (26444186)
2015
5
Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications. (23700267)
2013
6
EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus. (23695287)
2013
7
Prevalence of mutations located at the dfnb1 locus in a population of cochlear implanted children in eastern Romania. (22070872)
2012
8
Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss. (22281373)
2012
9
Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations. (21287563)
2011
10
Vestibular dysfunction in DFNB1 deafness. (21465647)
2011
11
Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss. (21586435)
2011
12
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment. (21622233)
2011
13
Influence of DFNB1 status on expressive language in deaf children with cochlear implants. (21956600)
2011
14
Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2. (20022641)
2010
15
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. (20236118)
2010
16
Performance of speech perception after cochlear implantation in DFNB1 patients. (19051073)
2009
17
A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss. (19101659)
2009
18
Single nucleotide polymorphisms and haplotypes analysis of DFNB1 locus in Chinese sporadic hearing impairment population. (19719946)
2009
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
Imaging correlation of children with DFNB1 vs non-DFNB1 hearing loss. (19393408)
2009
21
Infrequency of two deletion mutations at the DFNB1 locus in patients and controls. (18324688)
2008
22
Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity. (18758381)
2008
23
Performance after cochlear implantation in DFNB1 patients. (17903576)
2007
24
Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. (16773579)
2006
25
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness. (16941638)
2006
26
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
27
Relevance of connexin deafness (DFNB1) to human evolution. (15079193)
2004
28
Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations. (15274422)
2004
29
Molecular epidemiology of DFNB1 deafness in France. (15070423)
2004
30
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. (14571368)
2003
31
Clinical presentation of DFNB1. (12408072)
2002
32
Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations. (12080392)
2002
33
Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT. (10903123)
2000
34
Mapping of the DFNB1 locus. (10868223)
2000
35
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. (10218527)
1999
36
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. (9529365)
1998
37
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. (9285800)
1997
38
Contribution of DFNB1 and DFNB2 loci to neurosensory deafness in affected Tunisian families. (15945170)
1997
39
Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families. (9195157)
1997
40
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
41
The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population. (7668291)
1995
42
Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. (7573061)
1995
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
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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GO Terms for genes affiliated with Dfnb1

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:00017509.8MYO7A, PCDH15
2stereociliumGO:00324209.6MYO7A, PCDH15
3connexon complexGO:00059229.6GJB2, GJB3, GJB6
4gap junctionGO:00059218.9GJB2, GJB3, GJB6

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1auditory receptor cell stereocilium organizationGO:006008810.1MYO7A, PCDH15
2equilibrioceptionGO:005095710.0MYO7A, PCDH15
3sensory perception of light stimulusGO:00509539.8MYO7A, PCDH15
4inner ear receptor stereocilium organizationGO:00601229.8MYO7A, PCDH15
5auditory receptor cell differentiationGO:00424919.7MYO7A, PCDH15
6cell communicationGO:00071549.5GJB2, GJB3, GJB6
7inner ear developmentGO:00488398.8GJB6, MYO7A, PCDH15, POU3F4
8sensory perception of soundGO:00076057.1GJB2, GJB3, GJB6, MYO7A, OTOF, PCDH15

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

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:00052439.5GJB2, GJB3

Sources for Dfnb1

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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