MCID: NNS009
MIFTS: 22

Nonsyndromic Hearing Loss and Deafness, Dfnb1

Categories: Ear diseases

Aliases & Classifications for Nonsyndromic Hearing Loss and Deafness, Dfnb1

MalaCards integrated aliases for Nonsyndromic Hearing Loss and Deafness, Dfnb1:

Name: Nonsyndromic Hearing Loss and Deafness, Dfnb1 24
Gjb2-Related Dfnb 1 Nonsyndromic Hearing Loss Deafness 24

Classifications:



Summaries for Nonsyndromic Hearing Loss and Deafness, Dfnb1

MalaCards based summary : Nonsyndromic Hearing Loss and Deafness, Dfnb1, also known as gjb2-related dfnb 1 nonsyndromic hearing loss deafness, is related to dfnb1 and deafness, autosomal recessive 1a. An important gene associated with Nonsyndromic Hearing Loss and Deafness, Dfnb1 is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Vesicle-mediated transport and G-Beta Gamma Signaling. Affiliated tissues include skin and testes, and related phenotypes are hearing/vestibular/ear and integument

GeneReviews: NBK1272

Related Diseases for Nonsyndromic Hearing Loss and Deafness, Dfnb1

Diseases related to Nonsyndromic Hearing Loss and Deafness, Dfnb1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 dfnb1 29.5 GJB6 GJB3 GJB2
2 deafness, autosomal recessive 1a 29.5 GJB6 GJB3 GJB2
3 autosomal recessive non-syndromic sensorineural deafness type dfnb 29.4 GJB6 GJB3 GJB2
4 nonsyndromic deafness 29.4 GJB6 GJB3 GJB2
5 branchiootic syndrome 1 10.3
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
7 nonsyndromic hearing loss and deafness, dfna3 9.9 GJB6 GJB2
8 deafness, autosomal dominant 24 9.9 GJB6 GJB2
9 purulent labyrinthitis 9.9 GJB6 GJB2
10 labyrinthitis 9.9 GJB6 GJB2
11 viral labyrinthitis 9.9 GJB6 GJB2
12 congenital cytomegalovirus 9.9 GJB6 GJB2
13 deafness, x-linked 2 9.9 GJB6 GJB2
14 keratitis-ichthyosis-deafness syndrome, autosomal dominant 9.9 GJB6 GJB2
15 ichthyosis 9.9 GJB6 GJB2
16 deafness, autosomal dominant 64 9.9 GJB6 GJB2
17 deafness, autosomal dominant 59 9.9 GJB6 GJB2
18 vohwinkel syndrome 9.9 GJB6 GJB2
19 x-linked nonsyndromic deafness 9.8 GJB6 GJB2
20 deafness, autosomal recessive 12 9.8 GJB6 GJB2
21 branchiootorenal syndrome 9.8 GJB6 GJB2
22 keratitis, hereditary 9.7 GJB6 GJB2
23 hypotrichosis 9.7 GJB3 GJB2
24 hypotrichosis-deafness syndrome 9.7 GJB3 GJB2
25 pendred syndrome 9.7 GJB6 GJB2
26 erythrokeratoderma 9.7 GJB3 GJB2
27 deafness, autosomal dominant 2b 9.7 GJB3 GJB2
28 otosclerosis 9.6 GJB6 GJB2
29 deafness, autosomal recessive 91 9.6 GJB3 GJB2
30 hereditary lymphedema ic 9.6 GJB3 GJB2
31 deafness, autosomal dominant 4b 9.6 GJB3 GJB2
32 ectodermal dysplasia 9.5 GJB6 GJB2
33 usher syndrome 9.4 GJB6 GJB2
34 pseudoainhum 9.3 GJB6 GJB3 GJB2
35 deafness, autosomal recessive 1b 9.3 GJB6 GJB3 GJB2
36 deafness, autosomal dominant 3b 9.3 GJB6 GJB3 GJB2
37 deafness, autosomal dominant 3a 9.3 GJB6 GJB3 GJB2
38 knuckle pads 9.3 GJB6 GJB3 GJB2
39 knuckle pads, leukonychia, and sensorineural deafness 9.3 GJB6 GJB3 GJB2
40 hodgkin's lymphoma, nodular sclerosis 9.3 GJB6 GJB3 GJB2
41 clouston syndrome 9.3 GJB6 GJB3 GJB2
42 vestibular disease 9.3 GJB6 GJB3 GJB2
43 oculodentodigital dysplasia 9.3 GJB6 GJB3 GJB2
44 autosomal dominant non-syndromic sensorineural deafness type dfna 9.3 GJB6 GJB3 GJB2
45 erythrokeratodermia variabilis et progressiva 1 9.3 GJB6 GJB3 GJB2
46 palmoplantar keratosis 9.3 GJB6 GJB3 GJB2
47 auditory system disease 9.3 GJB6 GJB3 GJB2
48 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.3 GJB6 GJB3 GJB2
49 inner ear disease 9.3 GJB6 GJB3 GJB2
50 autosomal dominant nonsyndromic deafness 9.3 GJB6 GJB3 GJB2

Graphical network of the top 20 diseases related to Nonsyndromic Hearing Loss and Deafness, Dfnb1:



Diseases related to Nonsyndromic Hearing Loss and Deafness, Dfnb1

Symptoms & Phenotypes for Nonsyndromic Hearing Loss and Deafness, Dfnb1

MGI Mouse Phenotypes related to Nonsyndromic Hearing Loss and Deafness, Dfnb1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.33 GJB2 GJB3 GJB6
2 integument MP:0010771 9.13 GJB2 GJB3 GJB6
3 no phenotypic analysis MP:0003012 8.8 GJB2 GJB3 GJB6

Drugs & Therapeutics for Nonsyndromic Hearing Loss and Deafness, Dfnb1

Search Clinical Trials , NIH Clinical Center for Nonsyndromic Hearing Loss and Deafness, Dfnb1

Genetic Tests for Nonsyndromic Hearing Loss and Deafness, Dfnb1

Anatomical Context for Nonsyndromic Hearing Loss and Deafness, Dfnb1

MalaCards organs/tissues related to Nonsyndromic Hearing Loss and Deafness, Dfnb1:

40
Skin, Testes

Publications for Nonsyndromic Hearing Loss and Deafness, Dfnb1

Articles related to Nonsyndromic Hearing Loss and Deafness, Dfnb1:

(show all 43)
# Title Authors PMID Year
1
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 24
26969326 2016
2
Sensorineural Hearing Loss: A Changing Paradigm for Its Evaluation. 24
26216887 2015
3
Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care. 24
26084827 2015
4
Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics. 24
25575739 2015
5
Common molecular etiology of nonsyndromic hearing loss in 484 patients of 3 ethnicities in northwest China. 24
25761933 2015
6
Copy number variants are a common cause of non-syndromic hearing loss. 24
24963352 2014
7
The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study. 24
22695344 2012
8
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. 24
20236118 2010
9
A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss. 24
19101659 2009
10
Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity. 24
18758381 2008
11
Genotype-phenotype correlations for SLC26A4-related deafness. 24
17690912 2007
12
Connexin 26 deafness is not always congenital. 24
17222463 2007
13
Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness. 24
17086082 2006
14
GJB2 mutations and degree of hearing loss: a multicenter study. 24
16380907 2005
15
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. 24
15994881 2005
16
Sensorineural hearing loss in children. 24
15752533 2005
17
First molecular screening of deafness in the Altai Republic population. 24
15790391 2005
18
GJB2: the spectrum of deafness-causing allele variants and their phenotype. 24
15365987 2004
19
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. 24
14571368 2003
20
Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness. 24
12792423 2003
21
Connexin-30 deletion analysis in connexin-26 heterozygotes. 24
12885339 2003
22
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. 24
12172394 2002
23
HID and KID syndromes are associated with the same connexin 26 mutation. 24
12072059 2002
24
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. 24
11912510 2002
25
A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. 24
11918723 2002
26
Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. 24
11935342 2002
27
Connexin 26 studies in patients with sensorineural hearing loss. 24
11556849 2001
28
Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. 24
11493200 2001
29
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 24
11313763 2001
30
Exploring hemichannel permeability in vitro. 24
11218659 2001
31
Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2). 24
11438992 2001
32
High frequency hearing loss correlated with mutations in the GJB2 gene. 24
10830906 2000
33
Prevalent connexin 26 gene (GJB2) mutations in Japanese. 24
10633133 2000
34
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. 24
10607953 2000
35
A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). 24
10633135 2000
36
Molecular genetics applied to clinical practice: the Cx26 hearing impairment. 24
10890143 1999
37
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. 24
10369869 1999
38
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. 24
10376574 1999
39
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. 24
9819448 1998
40
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. 24
9856479 1998
41
Genetic counseling of the deaf. Medical and cultural considerations. 24
1952592 1991
42
Update of spectrum c.35delG and c.-23+1G>A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss. 61
30175840 2019
43
Nonsyndromic Hearing Loss and Deafness, DFNB1 61
20301449 1998

Variations for Nonsyndromic Hearing Loss and Deafness, Dfnb1

Expression for Nonsyndromic Hearing Loss and Deafness, Dfnb1

Search GEO for disease gene expression data for Nonsyndromic Hearing Loss and Deafness, Dfnb1.

Pathways for Nonsyndromic Hearing Loss and Deafness, Dfnb1

Pathways related to Nonsyndromic Hearing Loss and Deafness, Dfnb1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 GJB6 GJB3 GJB2
2
Show member pathways
12.2 GJB6 GJB3 GJB2
3
Show member pathways
11.73 GJB3 GJB2
4
Show member pathways
11.62 GJB6 GJB3 GJB2
5
Show member pathways
10.79 GJB6 GJB3 GJB2

GO Terms for Nonsyndromic Hearing Loss and Deafness, Dfnb1

Cellular components related to Nonsyndromic Hearing Loss and Deafness, Dfnb1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.33 GJB6 GJB3 GJB2
2 gap junction GO:0005921 9.13 GJB6 GJB3 GJB2
3 connexin complex GO:0005922 8.8 GJB6 GJB3 GJB2

Biological processes related to Nonsyndromic Hearing Loss and Deafness, Dfnb1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.54 GJB6 GJB3 GJB2
2 aging GO:0007568 9.46 GJB6 GJB2
3 response to lipopolysaccharide GO:0032496 9.43 GJB6 GJB2
4 sensory perception of sound GO:0007605 9.4 GJB6 GJB2
5 inner ear development GO:0048839 9.32 GJB6 GJB2
6 gap junction assembly GO:0016264 9.26 GJB6 GJB2
7 cell communication by electrical coupling GO:0010644 9.16 GJB6 GJB2
8 gap junction-mediated intercellular transport GO:1990349 8.96 GJB6 GJB2
9 cell communication GO:0007154 8.8 GJB6 GJB3 GJB2

Molecular functions related to Nonsyndromic Hearing Loss and Deafness, Dfnb1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.96 GJB6 GJB2
2 gap junction channel activity GO:0005243 8.8 GJB6 GJB3 GJB2

Sources for Nonsyndromic Hearing Loss and Deafness, Dfnb1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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