MCID: DFN038
MIFTS: 29

Dfnb1 malady

Categories: Rare diseases, Ear diseases

Aliases & Classifications for Dfnb1

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Aliases & Descriptions for Dfnb1:

Name: Dfnb1 48 50
Deafness Nonsyndromic, Connexin 26 Linked 48
 
Gjb2-Related Deafness 48
Connexin 26 Deafness 48

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 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 testes and bone, and related mouse phenotypes are hearing/vestibular/ear and nervous system.

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, dfnb111.9
2dfnb 1 nonsyndromic hearing loss and deafness10.8
3gjb2-related dfnb 1 nonsyndromic hearing loss and deafness10.8
4gjb6-related dfnb 1 nonsyndromic hearing loss and deafness10.8
5nonsyndromic hearing loss and deafness, mitochondrial10.4GJB2, GJB6
6myocardial infarction 210.4GJB2, GJB6
7thumb deformity, alopecia, pigmentation anomaly10.3GJB2, GJB6
8troyer syndrome10.3GJB2, GJB6
9ectodermal dysplasia 2, clouston type10.3GJB2, GJB6
10non-hypoproteinemic hypertrophic gastropathy10.2GJB2, GJB3
11deafness, autosomal recessive 2310.2MYO7A, PCDH15
12pierre robin syndrome10.2MYO7A, PCDH15
13deafness, autosomal recessive 210.1MYO7A, PCDH15
14spastic paraplegia 50, autosomal recessive10.1GJB2, GJB3
15cerebral artery occlusion10.0GJB2, GJB6
16porokeratosis 9, multiple types10.0MYO7A, PCDH15
17deafness, autosomal dominant 3a10.0GJB2, GJB3, GJB6
18pseudohermaphrodism anorectal anomalies10.0GJB2, GJB3, GJB6
19syndactyly, type iii10.0GJB2, GJB3
20punctate palmoplantar keratoderma type 210.0GJB2, GJB3, GJB6
21sublingual gland cancer10.0GJB2, GJB3, GJB6
22erythrokeratodermia variabilis et progressiva10.0GJB2, GJB3, GJB6
23dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia10.0GJB2, GJB6, OTOF
24dihydrolipoamide dehydrogenase deficiency10.0GJB2, GJB3, GJB6
25endometritis9.9GJB2, GJB6, OTOF
26small non-cleaved cell lymphoma9.9GJB2, GJB3, GJB6
27nonsyndromic deafness9.9
28sensorineural hearing loss9.9
29muscular dystrophy9.7
30limb-girdle muscular dystrophy9.7
31nonsyndromic hearing loss and deafness9.7
32self-healing papular mucinosis9.7GJB2, GJB3, GJB6, MYO7A
33hyperimmunoglobulin syndrome9.7GJB2, GJB3, GJB6, MYO7A
34noonan syndrome with multiple lentigines9.6GJB2, GJB3, GJB6, POU3F4
35nonsyndromic hearing loss and deafness, autosomal recessive9.6GJB2, GJB3, GJB6, POU3F4
36deafness, autosomal recessive9.5GJB3, OTOF
37dementia, familial british9.5GJB2, GJB3, GJB6, TUBA3C
38autosomal recessive nonsyndromic deafness8.9GJB2, GJB3, GJB6, MYO7A, PCDH15, POU3F4
39localized lichen myxedematosus with mixed features of different subtypes8.9GJB2, GJB3, GJB6, MYO7A, OTOF, PCDH15
40pyelitis8.5GJB2, GJB3, GJB6, MYO7A, OTOF, PCDH15
41continuous spike-wave during slow sleep syndrome7.7DFNB33, GJB2, GJB3, GJB6, MYO7A, PCDH15

Graphical network of the top 20 diseases related to Dfnb1:



Diseases related to dfnb1

Symptoms & Phenotypes for Dfnb1

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MGI Mouse Phenotypes related to Dfnb1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8GJB2, GJB6, MYO7A, OTOF, PCDH15, POU3F4
2MP:00036318.8GJB2, GJB6, MYO7A, OTOF, PCDH15, POU3F4
3MP:00030128.4GJB2, GJB3, GJB6, MYO7A, OTOF

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:

36
Testes, Bone

Publications for Dfnb1

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Articles related to Dfnb1:

(show all 46)
idTitleAuthorsYear
1
Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not? (27057829)
2016
2
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
3
Vestibular function and temporal bone imaging in DFNB1. (26188104)
2015
4
Connexin-Related (DFNB1) Hearing Loss: Is Routine Computed Tomography Imaging Necessary? (25583854)
2015
5
Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population. (26061264)
2015
6
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. (26444186)
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 DFNB1 mutations in Slovak patients with non-syndromic hearing loss. (22281373)
2012
10
Prevalence of mutations located at the dfnb1 locus in a population of cochlear implanted children in eastern Romania. (22070872)
2012
11
Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations. (21287563)
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
Vestibular dysfunction in DFNB1 deafness. (21465647)
2011
15
Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss. (21586435)
2011
16
Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2. (20022641)
2010
17
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. (20236118)
2010
18
Performance of speech perception after cochlear implantation in DFNB1 patients. (19051073)
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
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. (19375528)
2009
22
Imaging correlation of children with DFNB1 vs non-DFNB1 hearing loss. (19393408)
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
Relevance of connexin deafness (DFNB1) to human evolution. (15079193)
2004
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
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
Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT. (10903123)
2000
36
Mapping of the DFNB1 locus. (10868223)
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
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
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
The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population. (7668291)
1995
44
Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. (7573061)
1995
45
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
46
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:000175010.1MYO7A, PCDH15
2connexin complexGO:00059229.7GJB2, GJB3, GJB6
3gap junctionGO:00059219.7GJB2, GJB3, GJB6
4stereociliumGO:00324209.6MYO7A, PCDH15

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1auditory receptor cell differentiationGO:004249110.3MYO7A, PCDH15
2auditory receptor cell stereocilium organizationGO:006008810.3MYO7A, PCDH15
3equilibrioceptionGO:005095710.2MYO7A, PCDH15
4inner ear receptor stereocilium organizationGO:006012210.2MYO7A, PCDH15
5sensory perception of light stimulusGO:005095310.2MYO7A, PCDH15
6cell communicationGO:000715410.1GJB3, GJB6
7inner ear developmentGO:00488399.4GJB6, MYO7A, PCDH15, POU3F4
8sensory perception of soundGO:00076057.4GJB2, GJB3, GJB6, MYO7A, OTOF, PCDH15

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

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:000524310.1GJB2, GJB3
2protein complex bindingGO:00324039.2MYO7A, OTOF, PCDH15

Sources for Dfnb1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet