DFNB1A
MCID: DFN097
MIFTS: 47

Deafness, Autosomal Recessive 1a (DFNB1A)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Recessive 1a

MalaCards integrated aliases for Deafness, Autosomal Recessive 1a:

Name: Deafness, Autosomal Recessive 1a 56 29 13 6 71
Deafness, Digenic, Gjb2/gjb3 56 29 6
Dfnb1a 56 12 73
Autosomal Recessive Nonsyndromic Deafness 1a 12 15
Deafness, Digenic, Gjb2/gjb6 29 6
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1 73
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1 73
Deafness Neurosensory Autosomal Recessive 1 73
Deafness, Autosomal Recessive, Type 1a 39
Deafness, Autosomal Recessive, 1a 73
Autosomal Recessive Deafness 1a 12
Deafness, Digenic Gjb2/gjb6 56
Deafness Digenic Gjb2/gjb3 73
Deafness Digenic Gjb2/gjb6 73
Nsrd1 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive
digenic dominant (see miscellaneous)

Miscellaneous:
about half of patients report vestibular symptoms
digenic form caused by simultaneous heterozygous mutations in gjb2 and either gjb3 or gjb6


HPO:

31
deafness, autosomal recessive 1a:
Inheritance autosomal recessive inheritance digenic inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110475
OMIM 56 220290
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
SNOMED-CT via HPO 68 258211005 60700002
UMLS 71 C2673759

Summaries for Deafness, Autosomal Recessive 1a

UniProtKB/Swiss-Prot : 73 Deafness, autosomal recessive, 1A: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Recessive 1a, also known as deafness, digenic, gjb2/gjb3, is related to deafness, autosomal recessive 1b and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Recessive 1a is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are G-Beta Gamma Signaling and Myometrial Relaxation and Contraction Pathways. Affiliated tissues include brain and testes, and related phenotypes are vestibular dysfunction and sensorineural hearing impairment

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has material basis in mutation in the GJB2 gene on chromosome 13q12.

More information from OMIM: 220290 PS220290

Related Diseases for Deafness, Autosomal Recessive 1a

Diseases in the Rare Deafness family:

Deafness, Autosomal Dominant 1 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5 Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8 Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35 Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 48 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 42 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 53 Deafness, Autosomal Recessive 28
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 47
Deafness, Autosomal Recessive 55 Deafness, Autosomal Dominant 53
Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 49
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 66
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 63
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 45
Deafness, Autosomal Dominant 59 Deafness, Autosomal Dominant 3b
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 50
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 25
Deafness, Autosomal Recessive 79 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Recessive 85 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 83
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 29
Deafness, Autosomal Dominant 64 Deafness, Autosomal Dominant 33
Deafness, Autosomal Recessive 96 Deafness, Autosomal Dominant 4b
Deafness, Autosomal Recessive 86 Deafness, Autosomal Recessive 98
Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 70
Deafness, Autosomal Recessive 84b Deafness, Autosomal Recessive 18b
Deafness, Autosomal Recessive 88 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 56 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 102 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 65 Deafness, Autosomal Dominant 67
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 104
Deafness, Autosomal Dominant 69 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
Deafness, Autosomal Dominant 75 Deafness, Autosomal Dominant 76
Deafness, Autosomal Dominant 77 Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 106
Autosomal Recessive Nonsyndromic Deafness 107 Autosomal Recessive Nonsyndromic Deafness 108
Autosomal Dominant Nonsyndromic Deafness 71 Autosomal Dominant Nonsyndromic Deafness 72
Autosomal Dominant Nonsyndromic Deafness 73 Autosomal Dominant Nonsyndromic Deafness 34
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 32
Autosomal Recessive Nonsyndromic Deafness 36 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Recessive 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 1b 31.5 STRC GJB6 GJB3 GJB2 GJA3 CRYL1
2 branchiootic syndrome 1 29.9 TMC1 SLC26A4 PJVK OTOF MYO7A GJB2
3 deafness, autosomal dominant 3a 29.6 GSDME GJB6 GJB4 GJB3 GJB2 CRYM
4 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.1 TMC1 STRC SLC26A4 PJVK OTOF OTOA
5 deafness, autosomal dominant nonsyndromic sensorineural 3 11.2
6 nonsyndromic hearing loss and deafness, dfna3 10.5 GJB6 GJB2
7 purulent labyrinthitis 10.5 GJB6 GJB2
8 viral labyrinthitis 10.5 GJB6 GJB2
9 congenital cytomegalovirus 10.5 GJB6 GJB2
10 nonsyndromic deafness 10.5 KCNQ4 GJB2
11 keratitis-ichthyosis-deafness syndrome, autosomal dominant 10.5 GJB6 GJB2
12 deafness, autosomal recessive 27 10.4 TMC1 PJVK
13 deafness, autosomal recessive 13 10.4 TMC1 PJVK
14 nonsyndromic hearing loss and deafness, dfnb1 10.4 GJB6 GJB3 GJB2
15 deafness, autosomal dominant 67 10.4 OTOF GJB2
16 hypotrichosis-deafness syndrome 10.4 GJB4 GJB3 GJB2
17 palmoplantar keratoderma and congenital alopecia 1 10.4 GJB4 GJB3 GJB2
18 erythrokeratoderma 10.4 GJB4 GJB3 GJB2
19 deafness, autosomal recessive 59 10.4 PJVK OTOF
20 deafness, autosomal recessive 79 10.4 TMC1 GJB2
21 ear malformation 10.4 SLC26A4 GJB2
22 deafness, x-linked 5, with peripheral neuropathy 10.4 PJVK OTOF
23 nevus, epidermal 10.4 GJB4 GJB3 GJB2
24 deafness, autosomal dominant 40 10.4 OTOA CRYM
25 cogan syndrome 10.3 GJB2 COCH
26 deafness, autosomal recessive 28 10.3 OTOF OTOA
27 serous labyrinthitis 10.3 SLC26A4 GJB2
28 deafness, autosomal recessive 89 10.3 OTOA CRYM
29 deafness, autosomal recessive 66 10.3 STRC OTOA
30 deafness, autosomal dominant 64 10.3 KCNQ4 GJB2
31 deafness, autosomal recessive 35 10.3 PJVK OTOA
32 branchiootorenal syndrome 10.3 SLC26A4 OTOF GJB2
33 auditory neuropathy, autosomal dominant, 1 10.3 PJVK OTOF GJB2
34 deafness, autosomal recessive 77 10.3 SLC26A4 PJVK GJB2
35 deafness, autosomal recessive 6 10.3 TMC1 PJVK OTOA
36 pseudoainhum 10.3 GJB6 GJB4 GJB3 GJB2
37 bart-pumphrey syndrome 10.3 GJB6 GJB4 GJB3 GJB2
38 deafness, autosomal recessive 21 10.3 PJVK OTOA GJB2
39 knuckle pads 10.3 GJB6 GJB4 GJB3 GJB2
40 deafness, autosomal dominant 1 10.3 MYO7A GJB2
41 deafness, autosomal recessive 85 10.3 PJVK OTOF OTOA
42 clouston syndrome 10.3 GJB6 GJB4 GJB3 GJB2
43 vohwinkel syndrome 10.2 GJB6 GJB4 GJB3 GJB2
44 palmoplantar keratosis 10.2 GJB6 GJB4 GJB3 GJB2
45 deafness, autosomal recessive 3 10.2 MYO7A GJB2
46 deafness, autosomal dominant 3b 10.2 OTOA GJB6 GJB3 GJB2
47 deafness, autosomal dominant 56 10.2 SLC26A4 GJB2 COCH
48 deafness, autosomal dominant 44 10.2 KCNQ4 COCH
49 ectodermal dysplasia 10.2 GJB6 GJB4 GJB3 GJB2
50 deafness, autosomal recessive 8 10.2 TMC1 PJVK OTOF GJB2

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 1a:



Diseases related to Deafness, Autosomal Recessive 1a

Symptoms & Phenotypes for Deafness, Autosomal Recessive 1a

Human phenotypes related to Deafness, Autosomal Recessive 1a:

31
# Description HPO Frequency HPO Source Accession
1 vestibular dysfunction 31 occasional (7.5%) HP:0001751
2 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, sensorineural, prelingual profound
vestibular dysfunction (in some patients)

Clinical features from OMIM:

220290

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 1a:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.83 CLDN14 COCH CRYM GJB2 GJB3 GJB6
2 nervous system MP:0003631 9.4 CLDN14 GJB2 GJB6 GSDME KCNQ4 MYO7A

Drugs & Therapeutics for Deafness, Autosomal Recessive 1a

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 1a

Genetic Tests for Deafness, Autosomal Recessive 1a

Genetic tests related to Deafness, Autosomal Recessive 1a:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 1a 29 GJB2 GJB3 GJB6
2 Deafness, Digenic, Gjb2/gjb6 29
3 Deafness, Digenic, Gjb2/gjb3 29 GJB2 GJB3

Anatomical Context for Deafness, Autosomal Recessive 1a

MalaCards organs/tissues related to Deafness, Autosomal Recessive 1a:

40
Brain, Testes

Publications for Deafness, Autosomal Recessive 1a

Articles related to Deafness, Autosomal Recessive 1a:

(show top 50) (show all 121)
# Title Authors PMID Year
1
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect. 56 61 6
21776002 2011
2
A Mayan founder mutation is a common cause of deafness in Guatemala. 6 56
26346709 2016
3
Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31. 56 6
19050930 2009
4
Infrequency of two deletion mutations at the DFNB1 locus in patients and controls. 6 56
18324688 2008
5
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. 6 56
17041943 2006
6
The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children. 6 56
16840571 2006
7
High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss. 6 56
16088916 2005
8
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. 6 56
15994881 2005
9
Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness. 56 6
15253766 2004
10
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. 6 56
11807148 2002
11
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. 56 6
9139825 1997
12
Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. 6 56
8789457 1996
13
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 6
31160754 2019
14
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. 6
25262649 2014
15
Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis. 6
24785414 2014
16
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 56
22975760 2013
17
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 6
22981120 2012
18
Vestibular dysfunction in DFNB1 deafness. 56
21465647 2011
19
A large cohort study of GJB2 mutations in Japanese hearing loss patients. 6
20497192 2010
20
R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG. 56
20815033 2010
21
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. 6
20236118 2010
22
GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf. 56
20201936 2010
23
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. 6
19375528 2009
24
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene. 6
18985073 2009
25
Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population. 6
18925674 2008
26
A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart. 56
18656178 2008
27
Infant hearing loss and connexin testing in a diverse population. 56
18580690 2008
28
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. 6
17993581 2008
29
M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. 6
17935238 2007
30
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter. 6
17660464 2007
31
The prevalence of the 235delC GJB2 mutation in a Chinese deaf population. 6
17505205 2007
32
V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity. 6
17036313 2006
33
Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. 6
16773579 2006
34
High prevalence of the IVS 1 + 1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2. 6
16650079 2006
35
Non-syndromic, autosomal-recessive deafness. 56
16650073 2006
36
Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"? 6
16868655 2006
37
Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf. 56
16222667 2005
38
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. 6
15633193 2005
39
Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population. 6
15638823 2005
40
Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness. 6
15592461 2005
41
Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival. 6
15235031 2004
42
Relevance of connexin deafness (DFNB1) to human evolution. 56
15079193 2004
43
Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis. 56
15150777 2004
44
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene. 6
14694360 2004
45
A genotype-phenotype correlation for GJB2 (connexin 26) deafness. 6
14985372 2004
46
Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness. 6
14735592 2004
47
Elevated frequencies of the 35delG allele of the connexin 26 gene in Corsica, France. 6
14986832 2003
48
Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. 6
14505035 2003
49
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. 6
14571368 2003
50
Connexin 26 35delG does not represent a mutational hotspot. 6
12684873 2003

Variations for Deafness, Autosomal Recessive 1a

ClinVar genetic disease variations for Deafness, Autosomal Recessive 1a:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GJB2 NM_004004.6(GJB2):c.327_328delinsA (p.Glu110fs)indel Pathogenic 556762 rs1555341931 13:20763393-20763394 13:20189254-20189255
2 GJB2 NM_004004.6(GJB2):c.72G>A (p.Trp24Ter)SNV Pathogenic 554744 rs769486081 13:20763649-20763649 13:20189510-20189510
3 GJB2 NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)SNV Pathogenic 560669 rs998045226 13:20763171-20763171 13:20189032-20189032
4 GJB2 NM_004004.6(GJB2):c.516G>C (p.Trp172Cys)SNV Pathogenic 590799 rs1302739538 13:20763205-20763205 13:20189066-20189066
5 GJB3 NM_024009.3(GJB3):c.8G>A (p.Trp3Ter)SNV Pathogenic 627448 rs1557659237 1:35250371-35250371 1:34784770-34784770
6 GJB2 NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter)duplication Pathogenic 627447 rs1566528185 13:20763115-20763116 13:20188976-20188977
7 GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr)SNV Pathogenic 17000 rs35887622 13:20763620-20763620 13:20189481-20189481
8 GJB2 NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)SNV Pathogenic 17001 rs80338944 13:20763490-20763490 13:20189351-20189351
9 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)SNV Pathogenic 17002 rs104894396 13:20763650-20763650 13:20189511-20189511
10 GJB2 NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)SNV Pathogenic 17003 rs104894397 13:20763492-20763492 13:20189353-20189353
11 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs)deletion Pathogenic 17004 rs80338939 13:20763686-20763686 13:20189547-20189547
12 GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)SNV Pathogenic 17005 rs104894398 13:20763582-20763582 13:20189443-20189443
13 GJB2 NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del)short repeat Pathogenic 17006 rs80338947 13:20763361-20763363 13:20189222-20189224
14 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)SNV Pathogenic 5544 rs104894415 13:20797589-20797589 13:20223450-20223450
15 GJB6 NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)SNV Pathogenic 5545 rs28937872 13:20797357-20797357 13:20223218-20223218
16 GJB2 , GJB6 del(GJB6-D13S1830)deletion Pathogenic 5546
17 GJB6 NC_000013.10:g.(20802713_20802726)_(21034755_21034768)deldeletion Pathogenic 5548 13:20802713-21034768 13:20228574-20460629
18 GJB3 NM_024009.3(GJB3):c.497A>G (p.Asn166Ser)SNV Pathogenic 6492 rs121908851 1:35250860-35250860 1:34785259-34785259
19 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)SNV Pathogenic 17009 rs80338948 13:20763294-20763294 13:20189155-20189155
20 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs)deletion Pathogenic 17010 rs80338942 13:20763554-20763554 13:20189415-20189415
21 GJB2 NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)SNV Pathogenic 17027 rs28931593 13:20763497-20763497 13:20189358-20189358
22 GJB2 NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs)indel Pathogenic 17013 rs886037624 13:20763659-20763670 13:20189520-20189531
23 GJB2 NM_004004.6(GJB2):c.235del (p.Leu79fs)deletion Pathogenic 17014 rs80338943 13:20763486-20763486 13:20189347-20189347
24 GJB2 NM_004004.6(GJB2):c.280_284dup (p.Ala96fs)duplication Pathogenic 17025 rs886037625 13:20763436-20763437 13:20189297-20189298
25 GJB2 NM_004004.6(GJB2):c.-23+1G>ASNV Pathogenic 17029 rs80338940 13:20766921-20766921 13:20192782-20192782
26 GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile)SNV Pathogenic 17023 rs72474224 13:20763612-20763612 13:20189473-20189473
27 GJB2 NM_004004.6(GJB2):c.250G>A (p.Val84Met)SNV Pathogenic 17036 rs104894409 13:20763471-20763471 13:20189332-20189332
28 GJB2 NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)SNV Pathogenic 44725 rs111033297 13:20763552-20763552 13:20189413-20189413
29 GJB2 NM_004004.6(GJB2):c.1A>G (p.Met1Val)SNV Pathogenic 44729 rs111033293 13:20763720-20763720 13:20189581-20189581
30 GJB2 NM_004004.6(GJB2):c.299_300del (p.His100fs)deletion Pathogenic 44736 rs111033204 13:20763421-20763422 13:20189282-20189283
31 GJB2 NM_004004.6(GJB2):c.313_326del (p.Lys105fs)deletion Pathogenic 44737 rs111033253 13:20763395-20763408 13:20189256-20189269
32 GJB2 NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)SNV Pathogenic 44744 rs397516874 13:20763351-20763351 13:20189212-20189212
33 GJB2 NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)SNV Pathogenic 44763 rs111033294 13:20763104-20763104 13:20188965-20188965
34 GJB2 NM_004004.6(GJB2):c.95G>A (p.Arg32His)SNV Pathogenic 44766 rs111033190 13:20763626-20763626 13:20189487-20189487
35 GJB2 NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)SNV Pathogenic 158605 rs104894407 13:20763589-20763589 13:20189450-20189450
36 GJB2 NM_004004.6(GJB2):c.269dup (p.Val91fs)duplication Pathogenic 177737 rs730880338 13:20763451-20763452 13:20189312-20189313
37 GJB2 NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)duplication Pathogenic 188821 rs786204491 13:20763430-20763431 13:20189291-20189292
38 GJB2 NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)SNV Pathogenic 188758 rs371024165 13:20763627-20763627 13:20189488-20189488
39 GJB2 NM_004004.6(GJB2):c.314_329del (p.Lys105fs)deletion Pathogenic 211079 rs797045596 13:20763392-20763407 13:20189253-20189268
40 GJB2 undetermined variant Pathogenic 253027
41 GJB2 NC_000013.11:g.20365207_20496559deldeletion Pathogenic 253028 13:20939346-21070698 13:20365207-20496559
42 GJB2 NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)SNV Pathogenic 265481 rs774518779 13:20763215-20763215 13:20189076-20189076
43 GJB2 NM_004004.6(GJB2):c.176_191del (p.Gly59fs)deletion Pathogenic 284906 rs750188782 13:20763530-20763545 13:20189391-20189406
44 GJB2 NM_004004.6(GJB2):c.385G>T (p.Glu129Ter)SNV Pathogenic/Likely pathogenic 225223 rs397516875 13:20763336-20763336 13:20189197-20189197
45 GJB2 NM_004004.6(GJB2):c.334_335del (p.Lys112fs)deletion Pathogenic/Likely pathogenic 189051 rs756484720 13:20763386-20763387 13:20189247-20189248
46 GJB2 NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)SNV Pathogenic/Likely pathogenic 371709 rs767178508 13:20763282-20763282 13:20189143-20189143
47 GJB2 NM_004004.6(GJB2):c.238C>T (p.Gln80Ter)SNV Pathogenic/Likely pathogenic 371685 rs199883710 13:20763483-20763483 13:20189344-20189344
48 GJB2 NM_004004.6(GJB2):c.230G>A (p.Trp77Ter)SNV Pathogenic/Likely pathogenic 189176 rs104894395 13:20763491-20763491 13:20189352-20189352
49 GJB2 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)SNV Pathogenic/Likely pathogenic 188830 rs104894413 13:20763590-20763590 13:20189451-20189451
50 GJB2 NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)SNV Pathogenic/Likely pathogenic 189183 rs771748289 13:20763125-20763125 13:20188986-20188986

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 1a:

73 (show all 22)
# Symbol AA change Variation ID SNP ID
1 GJB2 p.Val37Ile VAR_002139 rs72474224
2 GJB2 p.Trp77Arg VAR_002141 rs104894397
3 GJB2 p.Val84Leu VAR_002143 rs104894409
4 GJB2 p.Val95Met VAR_002144 rs111033299
5 GJB2 p.Ser113Arg VAR_002145 rs80338946
6 GJB2 p.Arg184Trp VAR_009969 rs998045226
7 GJB2 p.Thr86Arg VAR_015458 rs129151990
8 GJB2 p.Arg143Trp VAR_015460 rs80338948
9 GJB2 p.Leu90Pro VAR_015937 rs80338945
10 GJB2 p.Asp159Val VAR_015941 rs28931592
11 GJB2 p.Arg184Pro VAR_015943 rs80338950
12 GJB2 p.Arg32His VAR_023605 rs111033190
13 GJB2 p.Leu79Pro VAR_023607 rs155534195
14 GJB2 p.Gln80Lys VAR_023608
15 GJB2 p.Met93Ile VAR_023609 rs397516871
16 GJB2 p.Glu129Lys VAR_023611 rs397516875
17 GJB2 p.Val178Ala VAR_023613 rs568612627
18 GJB2 p.Ile203Lys VAR_023616
19 GJB2 p.Leu214Pro VAR_023617
20 GJB2 p.Val84Met VAR_060800 rs104894409
21 GJB2 p.Gly130Ala VAR_069520 rs779018464
22 GJB2 p.Gly130Asp VAR_069521 rs779018464

Expression for Deafness, Autosomal Recessive 1a

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 1a.

Pathways for Deafness, Autosomal Recessive 1a

Pathways related to Deafness, Autosomal Recessive 1a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 GJB6 GJB4 GJB3 GJB2 GJA3
2
Show member pathways
11.84 GJB6 GJB4 GJB3 GJB2 GJA3
3
Show member pathways
11.01 GJB6 GJB4 GJB3 GJB2 GJA3

GO Terms for Deafness, Autosomal Recessive 1a

Cellular components related to Deafness, Autosomal Recessive 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.1 TMC1 SLC26A4 OTOF OTOA KCNQ4 GSDME
2 cell junction GO:0030054 9.76 OTOF MYO7A GJB6 GJB4 GJB3 GJB2
3 apical plasma membrane GO:0016324 9.67 SLC26A4 OTOA MYO7A GJB6
4 gap junction GO:0005921 9.35 GJB6 GJB4 GJB3 GJB2 GJA3
5 stereocilium tip GO:0032426 9.26 TMC1 STRC
6 connexin complex GO:0005922 9.02 GJB6 GJB4 GJB3 GJB2 GJA3

Biological processes related to Deafness, Autosomal Recessive 1a according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.8 SLC26A4 KCNQ4 GJB6 GJB4 GJB3 GJB2
2 cell-cell signaling GO:0007267 9.72 GJB6 GJB4 GJB3 GJB2 GJA3
3 cell communication GO:0007154 9.55 GJB6 GJB4 GJB3 GJB2 GJA3
4 inner ear development GO:0048839 9.54 MYO7A GJB6 GJB2
5 auditory receptor cell stereocilium organization GO:0060088 9.49 STRC MYO7A
6 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.48 TMC1 STRC
7 gap junction assembly GO:0016264 9.46 GJB6 GJB2
8 sensory perception of sound GO:0007605 9.44 TMC1 STRC SLC26A4 PJVK OTOF OTOA
9 inner ear receptor cell differentiation GO:0060113 9.43 MYO7A GSDME
10 cell communication by electrical coupling GO:0010644 9.4 GJB6 GJB2
11 gap junction-mediated intercellular transport GO:1990349 9.26 GJB6 GJB4 GJB2 GJA3

Molecular functions related to Deafness, Autosomal Recessive 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 9.02 GJB6 GJB4 GJB3 GJB2 GJA3
2 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.96 GJB6 GJB2

Sources for Deafness, Autosomal Recessive 1a

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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