DFNB1A
MCID: DFN097
MIFTS: 49

Deafness, Autosomal Recessive 1a (DFNB1A)

Categories: 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 57 29 13 6 70
Deafness, Digenic, Gjb2/gjb3 57 29 6
Dfnb1a 57 12 72
Autosomal Recessive Nonsyndromic Deafness 1a 12 15
Deafness, Digenic, Gjb2/gjb6 29 6
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1 72
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1 72
Deafness Neurosensory Autosomal Recessive 1 72
Deafness, Autosomal Recessive, Type 1a 39
Deafness, Autosomal Recessive, 1a 72
Autosomal Recessive Deafness 1a 12
Deafness, Digenic Gjb2/gjb6 57
Deafness Digenic Gjb2/gjb3 72
Deafness Digenic Gjb2/gjb6 72
Nsrd1 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 220290
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
SNOMED-CT via HPO 68 258211005 60700002
UMLS 70 C2673759

Summaries for Deafness, Autosomal Recessive 1a

UniProtKB/Swiss-Prot : 72 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 nonsyndromic hearing loss and deafness, dfnb1. An important gene associated with Deafness, Autosomal Recessive 1a is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Myometrial Relaxation and Contraction Pathways and Gap junction trafficking. Affiliated tissues include skin, bone and brain, 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 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
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
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
Autosomal Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 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 124)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 1b 32.3 STRC GJB6 GJB3 GJB2 CRYL1
2 nonsyndromic hearing loss and deafness, dfnb1 30.3 GJB6 GJB3 GJB2
3 dfnb1 29.5 OTOF MYO7A GJB6 GJB3 GJB2
4 branchiootic syndrome 1 29.5 TMC1 SLC26A4 PJVK OTOF MYO7A GJB2
5 deafness, autosomal dominant 3a 29.0 GSDME GRHL2 GJB6 GJB4 GJB3 GJB2
6 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.5 TMC1 STRC SLC26A4 PJVK OTOF OTOA
7 rare genetic deafness 27.8 TMC1 STRC SLC26A4 PJVK OTOF OTOA
8 deafness, autosomal dominant nonsyndromic sensorineural 3 11.0
9 ainhum 10.4 GJB4 GJB2
10 nonsyndromic hearing loss and deafness, dfna3 10.4 GJB6 GJB2
11 purulent labyrinthitis 10.4 GJB6 GJB2
12 congenital cytomegalovirus 10.3 GJB6 GJB2
13 deafness, autosomal recessive 6 10.3 PJVK OTOA
14 deafness, autosomal dominant 24 10.3 GJB3 COCH
15 hypotrichosis-deafness syndrome 10.3 GJB4 GJB3 GJB2
16 hereditary lymphedema ic 10.3 GJB4 GJB3 GJB2
17 erythrokeratoderma 10.3 GJB4 GJB3 GJB2
18 deafness, autosomal dominant 67 10.3 OTOF GJB2
19 cogan syndrome 10.3 GJB2 COCH
20 deafness, autosomal recessive 27 10.3 TMC1 PJVK
21 deafness, autosomal recessive 13 10.3 TMC1 PJVK
22 superior semicircular canal dehiscence 10.3 SLC26A4 COCH
23 deafness, autosomal recessive 59 10.3 PJVK OTOF
24 deafness, autosomal recessive 79 10.3 TMC1 GJB2
25 palmoplantar keratosis 10.3 GJB4 GJB3 GJB2
26 nevus, epidermal 10.3 GJB4 GJB3 GJB2
27 deafness, autosomal dominant 40 10.2 OTOA CRYM
28 deafness, autosomal recessive 39 10.2 STRC OTOA GJB2
29 deafness, autosomal dominant 56 10.2 SLC26A4 GJB2 COCH
30 deafness, autosomal recessive 93 10.2 PJVK OTOF GJB2
31 deafness, autosomal dominant 64 10.2 KCNQ4 GJB2
32 pseudoainhum 10.2 GJB6 GJB4 GJB3 GJB2
33 knuckle pads 10.2 GJB6 GJB4 GJB3 GJB2
34 deafness, autosomal recessive 77 10.2 SLC26A4 PJVK GJB2
35 bart-pumphrey syndrome 10.2 GJB6 GJB4 GJB3 GJB2
36 deafness, autosomal recessive 49 10.2 PJVK GJB2
37 palmoplantar keratoderma and congenital alopecia 1 10.2 GJB6 GJB4 GJB3 GJB2
38 deafness, autosomal recessive 61 10.2 SLC26A4 OTOF OTOA
39 clouston syndrome 10.2 GJB6 GJB4 GJB3 GJB2
40 oculodentodigital dysplasia 10.2 GJB6 GJB4 GJB3 GJB2
41 vohwinkel syndrome 10.2 GJB6 GJB4 GJB3 GJB2
42 deafness, autosomal recessive 85 10.2 PJVK OTOF OTOA
43 deafness, autosomal dominant 3b 10.2 OTOA GJB6 GJB3 GJB2
44 deafness, autosomal recessive 89 10.2 OTOA CRYM
45 deafness, autosomal recessive 22 10.2 STRC PJVK OTOA
46 viral labyrinthitis 10.2 GJB6 GJB2 ATOH1
47 deafness, autosomal recessive 35 10.2 PJVK OTOA
48 deafness, autosomal recessive 8 10.1 TMC1 PJVK OTOF GJB2
49 deafness, autosomal recessive 66 10.1 STRC OTOA
50 branchiootorenal syndrome 10.1 SLC26A4 OTOF GJB6 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®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural, prelingual profound
vestibular dysfunction (in some patients)

Clinical features from OMIM®:

220290 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.83 ATOH1 COCH CRYM GJB2 GJB3 GJB6
2 nervous system MP:0003631 9.44 ATOH1 GJB2 GJB6 GRHL2 GSDME KCNQ4

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
Skin, Bone, Brain, Breast

Publications for Deafness, Autosomal Recessive 1a

Articles related to Deafness, Autosomal Recessive 1a:

(show top 50) (show all 362)
# 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. 6 57 61
21776002 2011
2
A Mayan founder mutation is a common cause of deafness in Guatemala. 6 57
26346709 2016
3
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 6 57
22975760 2013
4
Vestibular dysfunction in DFNB1 deafness. 57 6
21465647 2011
5
R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG. 6 57
20815033 2010
6
Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31. 6 57
19050930 2009
7
Infant hearing loss and connexin testing in a diverse population. 57 6
18580690 2008
8
Infrequency of two deletion mutations at the DFNB1 locus in patients and controls. 6 57
18324688 2008
9
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 57
17041943 2006
10
The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children. 6 57
16840571 2006
11
Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf. 6 57
16222667 2005
12
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 57
16088916 2005
13
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 57
15994881 2005
14
Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness. 6 57
15253766 2004
15
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. 57 6
11807148 2002
16
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. 57 6
10218527 1999
17
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. 6 57
9139825 1997
18
Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. 6 57
8789457 1996
19
The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China. 6
32645618 2020
20
Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family. 6
32090102 2020
21
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 6
31160754 2019
22
Genetic testing for congenital non-syndromic sensorineural hearing loss. 6
31163360 2019
23
Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg. 6
31099403 2019
24
Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China. 6
31035178 2019
25
A Novel GJB2 compound heterozygous mutation c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family. 6
29665173 2018
26
Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia. 6
30344259 2018
27
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients. 6
29196752 2017
28
[A gene study of a family with hidrotic ectodermal dysplasia]. 6
27817781 2016
29
Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province. 6
27534436 2016
30
The Yield of Multigene Testing in the Management of Pediatric Unilateral Sensorineural Hearing Loss. 6
27466889 2016
31
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. 6
27137747 2016
32
Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss. 6
27169813 2016
33
Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness. 6
27340645 2016
34
Somatic Mosaicism for a "Lethal" GJB2 Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement. 6
27087580 2016
35
Immune system disturbances in Clouston syndrome. 6
26551294 2016
36
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 6
26969326 2016
37
Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not? 6
27057829 2016
38
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis. 6
26763877 2016
39
The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis. 6
26749107 2016
40
Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients. 6
26778469 2016
41
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population. 6
26896187 2016
42
Comparative functional characterization of novel non-syndromic GJB2 gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu. 6
27761313 2016
43
Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay. 6
27247933 2016
44
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. 6
26444186 2016
45
Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss. 6
26553399 2015
46
Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India. 6
26188157 2015
47
Prevalence of 35delG and Met34Thr GJB2 variants in Portuguese samples. 6
26482070 2015
48
Correlation analysis of phenotype and genotype of GJB2 in patients with non-syndromic hearing loss in China. 6
26095810 2015
49
Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily. 6
26096904 2015
50
GJB2 c.-23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss. 6
25012701 2015

Variations for Deafness, Autosomal Recessive 1a

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

6 (show top 50) (show all 294)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJB3 NM_024009.3(GJB3):c.497A>G (p.Asn166Ser) SNV Pathogenic 6492 rs121908851 GRCh37: 1:35250860-35250860
GRCh38: 1:34785259-34785259
2 overlap with 3 genes NC_000013.10:g.(20802713_20802726)_(21034755_21034768)del Deletion Pathogenic 5548 GRCh37: 13:20802713-21034768
GRCh38: 13:20228574-20460629
3 GJB2 , GJB6 del(GJB6-D13S1830) Deletion Pathogenic 5546 GRCh37:
GRCh38:
4 GJB3 NM_024009.3(GJB3):c.580G>A (p.Ala194Thr) SNV Pathogenic 6493 rs117385606 GRCh37: 1:35250943-35250943
GRCh38: 1:34785342-34785342
5 GJB2 NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs) Indel Pathogenic 17013 rs886037624 GRCh37: 13:20763659-20763670
GRCh38: 13:20189520-20189531
6 GJB2 NM_004004.6(GJB2):c.280_284dup (p.Ala96fs) Duplication Pathogenic 17025 rs886037625 GRCh37: 13:20763436-20763437
GRCh38: 13:20189297-20189298
7 GJB2 NM_004004.6(GJB2):c.314_329del (p.Lys105fs) Deletion Pathogenic 211079 rs797045596 GRCh37: 13:20763392-20763407
GRCh38: 13:20189253-20189268
8 GJB2 and overlap with 2 gene(s) NC_000013.11:g.20365207_20496559del Deletion Pathogenic 253028 GRCh37: 13:20939346-21070698
GRCh38: 13:20365207-20496559
9 GJB2 , GJB6 del(GJB6-D13S1830) Deletion Pathogenic 5546 GRCh37:
GRCh38:
10 GJB2 Variation Pathogenic 253027 GRCh37:
GRCh38:
11 GJB2 NM_004004.6(GJB2):c.72G>A (p.Trp24Ter) SNV Pathogenic 554744 rs769486081 GRCh37: 13:20763649-20763649
GRCh38: 13:20189510-20189510
12 GJB2 NM_004004.6(GJB2):c.327_328delinsA (p.Glu110fs) Indel Pathogenic 556762 rs1555341931 GRCh37: 13:20763393-20763394
GRCh38: 13:20189254-20189255
13 GJB2 NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) Duplication Pathogenic 627447 rs1566528185 GRCh37: 13:20763115-20763116
GRCh38: 13:20188976-20188977
14 GJB3 NM_024009.3(GJB3):c.8G>A (p.Trp3Ter) SNV Pathogenic 627448 rs1557659237 GRCh37: 1:35250371-35250371
GRCh38: 1:34784770-34784770
15 GJB2 NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) SNV Pathogenic 631697 rs1291519904 GRCh37: 13:20763464-20763464
GRCh38: 13:20189325-20189325
16 GJB6 NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) SNV Pathogenic 5545 rs28937872 GRCh37: 13:20797357-20797357
GRCh38: 13:20223218-20223218
17 GJB2 NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) SNV Pathogenic 560669 rs998045226 GRCh37: 13:20763171-20763171
GRCh38: 13:20189032-20189032
18 GJB2 NM_004004.6(GJB2):c.137_141del (p.Asp46fs) Deletion Pathogenic 917888 GRCh37: 13:20763580-20763584
GRCh38: 13:20189441-20189445
19 GJB2 NM_004004.6(GJB2):c.176_191del (p.Gly59fs) Deletion Pathogenic 284906 rs750188782 GRCh37: 13:20763530-20763545
GRCh38: 13:20189391-20189406
20 GJB2 NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) SNV Pathogenic 267367 rs72561723 GRCh37: 13:20763587-20763587
GRCh38: 13:20189448-20189448
21 GJB2 NM_004004.6(GJB2):c.250G>A (p.Val84Met) SNV Pathogenic 17036 rs104894409 GRCh37: 13:20763471-20763471
GRCh38: 13:20189332-20189332
22 GJB2 NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter) SNV Pathogenic 195205 rs772264564 GRCh37: 13:20763256-20763256
GRCh38: 13:20189117-20189117
23 GJB2 NM_004004.6(GJB2):c.487A>G (p.Met163Val) SNV Pathogenic 21388 rs80338949 GRCh37: 13:20763234-20763234
GRCh38: 13:20189095-20189095
24 GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) SNV Pathogenic 17007 rs80338950 GRCh37: 13:20763170-20763170
GRCh38: 13:20189031-20189031
25 GJB2 NM_004004.6(GJB2):c.283G>A (p.Val95Met) SNV Pathogenic 44735 rs111033299 GRCh37: 13:20763438-20763438
GRCh38: 13:20189299-20189299
26 GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) SNV Pathogenic 44749 rs76434661 GRCh37: 13:20763305-20763305
GRCh38: 13:20189166-20189166
27 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) SNV Pathogenic 5544 rs104894415 GRCh37: 13:20797589-20797589
GRCh38: 13:20223450-20223450
28 GJB2 NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) SNV Pathogenic 163514 rs727503066 GRCh37: 13:20763342-20763342
GRCh38: 13:20189203-20189203
29 GJB2 NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) SNV Pathogenic 550195 rs371024165 GRCh37: 13:20763627-20763627
GRCh38: 13:20189488-20189488
30 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) SNV Pathogenic 5544 rs104894415 GRCh37: 13:20797589-20797589
GRCh38: 13:20223450-20223450
31 GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) SNV Pathogenic 17007 rs80338950 GRCh37: 13:20763170-20763170
GRCh38: 13:20189031-20189031
32 GJB2 NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) SNV Pathogenic 17001 rs80338944 GRCh37: 13:20763490-20763490
GRCh38: 13:20189351-20189351
33 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) SNV Pathogenic 17002 rs104894396 GRCh37: 13:20763650-20763650
GRCh38: 13:20189511-20189511
34 GJB2 NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) SNV Pathogenic 17003 rs104894397 GRCh37: 13:20763492-20763492
GRCh38: 13:20189353-20189353
35 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs) Deletion Pathogenic 17004 rs80338939 GRCh37: 13:20763686-20763686
GRCh38: 13:20189547-20189547
36 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs) Deletion Pathogenic 17004 rs80338939 GRCh37: 13:20763686-20763686
GRCh38: 13:20189547-20189547
37 GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) SNV Pathogenic 17005 rs104894398 GRCh37: 13:20763582-20763582
GRCh38: 13:20189443-20189443
38 GJB2 NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del) Microsatellite Pathogenic 17006 rs80338947 GRCh37: 13:20763361-20763363
GRCh38: 13:20189222-20189224
39 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) SNV Pathogenic 17009 rs80338948 GRCh37: 13:20763294-20763294
GRCh38: 13:20189155-20189155
40 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs) Deletion Pathogenic 17010 rs80338942 GRCh37: 13:20763554-20763554
GRCh38: 13:20189415-20189415
41 GJB2 NM_004004.6(GJB2):c.235del (p.Leu79fs) Deletion Pathogenic 17014 rs80338943 GRCh37: 13:20763486-20763486
GRCh38: 13:20189347-20189347
42 GJB2 NM_004004.6(GJB2):c.235del (p.Leu79fs) Deletion Pathogenic 17014 rs80338943 GRCh37: 13:20763486-20763486
GRCh38: 13:20189347-20189347
43 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) SNV Pathogenic 17016 rs80338945 GRCh37: 13:20763452-20763452
GRCh38: 13:20189313-20189313
44 GJB2 NM_004004.6(GJB2):c.-23+1G>A SNV Pathogenic 17029 rs80338940 GRCh37: 13:20766921-20766921
GRCh38: 13:20192782-20192782
45 GJB2 NM_004004.6(GJB2):c.250G>C (p.Val84Leu) SNV Pathogenic 17032 rs104894409 GRCh37: 13:20763471-20763471
GRCh38: 13:20189332-20189332
46 GJB2 NM_004004.6(GJB2):c.1A>G (p.Met1Val) SNV Pathogenic 44729 rs111033293 GRCh37: 13:20763720-20763720
GRCh38: 13:20189581-20189581
47 GJB2 NM_004004.6(GJB2):c.299_300del (p.His100fs) Deletion Pathogenic 44736 rs111033204 GRCh37: 13:20763421-20763422
GRCh38: 13:20189282-20189283
48 GJB2 NM_004004.6(GJB2):c.313_326del (p.Lys105fs) Deletion Pathogenic 44737 rs111033253 GRCh37: 13:20763395-20763408
GRCh38: 13:20189256-20189269
49 GJB2 NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) SNV Pathogenic 44744 rs397516874 GRCh37: 13:20763351-20763351
GRCh38: 13:20189212-20189212
50 GJB2 NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) SNV Pathogenic 44763 rs111033294 GRCh37: 13:20763104-20763104
GRCh38: 13:20188965-20188965

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

72 (show all 23)
# Symbol AA change Variation ID SNP ID
1 GJB2 p.Met34Thr VAR_002138 rs35887622
2 GJB2 p.Val37Ile VAR_002139 rs72474224
3 GJB2 p.Trp77Arg VAR_002141 rs104894397
4 GJB2 p.Val84Leu VAR_002143 rs104894409
5 GJB2 p.Val95Met VAR_002144 rs111033299
6 GJB2 p.Ser113Arg VAR_002145 rs80338946
7 GJB2 p.Arg184Trp VAR_009969 rs998045226
8 GJB2 p.Thr86Arg VAR_015458 rs129151990
9 GJB2 p.Arg143Trp VAR_015460 rs80338948
10 GJB2 p.Leu90Pro VAR_015937 rs80338945
11 GJB2 p.Asp159Val VAR_015941 rs28931592
12 GJB2 p.Arg184Pro VAR_015943 rs80338950
13 GJB2 p.Arg32His VAR_023605 rs111033190
14 GJB2 p.Leu79Pro VAR_023607 rs155534195
15 GJB2 p.Gln80Lys VAR_023608
16 GJB2 p.Met93Ile VAR_023609 rs397516871
17 GJB2 p.Glu129Lys VAR_023611 rs397516875
18 GJB2 p.Val178Ala VAR_023613 rs568612627
19 GJB2 p.Ile203Lys VAR_023616
20 GJB2 p.Leu214Pro VAR_023617
21 GJB2 p.Val84Met VAR_060800 rs104894409
22 GJB2 p.Gly130Ala VAR_069520 rs779018464
23 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
11.75 GJB6 GJB4 GJB3 GJB2
2
Show member pathways
10.92 GJB6 GJB4 GJB3 GJB2

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 cell junction GO:0030054 9.73 OTOF MYO7A GJB6 GJB4 GJB3 GJB2
2 apical plasma membrane GO:0016324 9.67 SLC26A4 OTOA MYO7A GJB6
3 stereocilium tip GO:0032426 9.32 TMC1 STRC
4 gap junction GO:0005921 9.26 GJB6 GJB4 GJB3 GJB2
5 stereocilium base GO:0120044 9.16 PJVK MYO7A
6 connexin complex GO:0005922 8.92 GJB6 GJB4 GJB3 GJB2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.85 SLC26A4 KCNQ4 GJB6 GJB4 GJB3 GJB2
2 cell-cell signaling GO:0007267 9.81 GJB6 GJB4 GJB3 GJB2
3 inner ear morphogenesis GO:0042472 9.58 MYO7A KCNQ4 ATOH1
4 inner ear development GO:0048839 9.56 MYO7A GJB6 GJB2 ATOH1
5 auditory receptor cell stereocilium organization GO:0060088 9.52 STRC MYO7A
6 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.5 TMC1 STRC PJVK
7 gap junction assembly GO:0016264 9.49 GJB6 GJB2
8 inner ear receptor cell differentiation GO:0060113 9.48 MYO7A GSDME
9 inner ear auditory receptor cell differentiation GO:0042491 9.46 MYO7A ATOH1
10 cell communication GO:0007154 9.46 GJB6 GJB4 GJB3 GJB2
11 sensory perception of sound GO:0007605 9.44 TMC1 STRC SLC26A4 PJVK OTOF OTOA
12 cell communication by electrical coupling GO:0010644 9.43 GJB6 GJB2
13 gap junction-mediated intercellular transport GO:1990349 9.13 GJB6 GJB4 GJB2

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 involved in cell communication by electrical coupling GO:1903763 8.96 GJB6 GJB2
2 gap junction channel activity GO:0005243 8.92 GJB6 GJB4 GJB3 GJB2

Sources for Deafness, Autosomal Recessive 1a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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