DFNA2B
MCID: DFN099
MIFTS: 30

Deafness, Autosomal Dominant 2b (DFNA2B)

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

Aliases & Classifications for Deafness, Autosomal Dominant 2b

MalaCards integrated aliases for Deafness, Autosomal Dominant 2b:

Name: Deafness, Autosomal Dominant 2b 57 29 13 6 70
Dfna2b 57 12 72
Autosomal Dominant Nonsyndromic Deafness 2b 12 15
Deafness, Autosomal Dominant, Type 2b 39
Deafness, Autosomal Dominant, 2b 72
Autosomal Dominant Deafness 2b 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
deafness, autosomal dominant 2b:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110559
OMIM® 57 612644
OMIM Phenotypic Series 57 PS124900
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C2675236
SNOMED-CT via HPO 68 232326009 263681008 48758008
UMLS 70 C2675236

Summaries for Deafness, Autosomal Dominant 2b

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has material basis in mutation in the GJB3 gene on chromosome 1p34.3.

MalaCards based summary : Deafness, Autosomal Dominant 2b, also known as dfna2b, is related to hypotrichosis-deafness syndrome and pseudoainhum. An important gene associated with Deafness, Autosomal Dominant 2b is GJB3 (Gap Junction Protein Beta 3). Related phenotypes are high-frequency hearing impairment and hearing/vestibular/ear

UniProtKB/Swiss-Prot : 72 Deafness, autosomal dominant, 2B: A form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females.

More information from OMIM: 612644 PS124900

Related Diseases for Deafness, Autosomal Dominant 2b

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 Dominant 2b via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis-deafness syndrome 10.1 GJB3 GJB2
2 pseudoainhum 10.1 GJB3 GJB2
3 nonsyndromic hearing loss and deafness, dfnb1 10.1 GJB3 GJB2
4 dfnb1 10.1 GJB3 GJB2
5 hereditary lymphedema ic 10.1 GJB3 GJB2
6 nonsyndromic deafness 10.1 KCNQ4 GJB2
7 erythrokeratoderma 10.1 GJB3 GJB2
8 deafness, autosomal dominant 3b 10.1 GJB3 GJB2
9 deafness, autosomal recessive 6 10.1 TRIOBP CABP2
10 drug-induced hearing loss 10.1 GJB3 GJB2
11 labyrinthitis 10.1 GJB2 COCH
12 cogan syndrome 10.1 GJB2 COCH
13 deafness, autosomal dominant 56 10.1 GJB2 COCH
14 deafness, autosomal recessive 35 10.1 TRIOBP CABP2
15 knuckle pads 10.1 GJB3 GJB2
16 deafness, autosomal recessive 9 10.1 TRIOBP GJB2
17 bart-pumphrey syndrome 10.1 GJB3 GJB2
18 keratoderma, palmoplantar, with deafness 10.1 GJB3 GJB2
19 deafness, autosomal recessive 28 10.1 TRIOBP CABP2
20 deafness, autosomal recessive 1b 10.1 GJB3 GJB2
21 deafness, autosomal dominant 51 10.1 GJB3 CCDC50
22 deafness, autosomal dominant 64 10.1 KCNQ4 GJB2
23 palmoplantar keratoderma and congenital alopecia 1 10.0 GJB3 GJB2
24 deafness, autosomal recessive 39 10.0 TRIOBP GJB2
25 auditory neuropathy, autosomal dominant, 1 10.0 KCNQ4 GJB2
26 deafness, autosomal dominant 13 10.0 KCNQ4 CCDC50
27 clouston syndrome 10.0 GJB3 GJB2
28 oculodentodigital dysplasia 10.0 GJB3 GJB2
29 deafness, autosomal dominant 36 10.0 KCNQ4 GJB2
30 deafness, autosomal dominant 1, with or without thrombocytopenia 10.0 TRIOBP GJB2
31 vohwinkel syndrome 9.9 GJB3 GJB2
32 deafness, autosomal dominant 28 9.9 KCNQ4 CRYM COCH
33 palmoplantar keratosis 9.9 GJB3 GJB2
34 peripheral vertigo 9.9 KCNQ4 GJB2 COCH
35 meniere disease 9.9 KCNQ4 GJB2 COCH
36 autosomal recessive nonsyndromic deafness 9.9 TRIOBP GJB2
37 deafness, autosomal recessive 12 9.9 TRIOBP GJB3 GJB2
38 deafness, autosomal recessive 93 9.9 TRIOBP GJB2 CABP2
39 deafness, autosomal dominant 20 9.9 POU4F3 KCNQ4
40 erythrokeratodermia variabilis et progressiva 1 9.9 GJB3 GJB2
41 rare genetic deafness 9.8 KCNQ4 GJB2 COCH
42 deafness, autosomal dominant 11 9.8 POU4F3 GJB2
43 vestibular disease 9.8 KCNQ4 GJB3 GJB2 COCH
44 inner ear disease 9.7 KCNQ4 GJB3 GJB2 COCH
45 nevus, epidermal 9.7 GJB3 GJB2
46 deafness, autosomal dominant 50 9.7 POU4F3 CCDC50
47 deafness, autosomal recessive 9.7 TRIOBP GJB3 GJB2 CABP2
48 x-linked nonsyndromic deafness 9.7 POU4F3 GJB3 GJB2
49 deafness, autosomal recessive 91 9.7 GJB3 GJB2 CRYM COCH
50 deafness, autosomal dominant 3a 9.7 GJB3 GJB2 CRYM COCH

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 2b:



Diseases related to Deafness, Autosomal Dominant 2b

Symptoms & Phenotypes for Deafness, Autosomal Dominant 2b

Human phenotypes related to Deafness, Autosomal Dominant 2b:

31
# Description HPO Frequency HPO Source Accession
1 high-frequency hearing impairment 31 HP:0005101

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, bilateral high-frequency, sensorineural

Clinical features from OMIM®:

612644 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 2b:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.23 CABP2 COCH CRYM GJB2 GJB3 KCNQ4

Drugs & Therapeutics for Deafness, Autosomal Dominant 2b

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 2b

Genetic Tests for Deafness, Autosomal Dominant 2b

Genetic tests related to Deafness, Autosomal Dominant 2b:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 2b 29 GJB3

Anatomical Context for Deafness, Autosomal Dominant 2b

Publications for Deafness, Autosomal Dominant 2b

Articles related to Deafness, Autosomal Dominant 2b:

# Title Authors PMID Year
1
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. 6 57
9843210 1998
2
Computational analysis based on audioprofiles: A new possibility for patient stratification in office-based otology. 61
31728177 2019

Variations for Deafness, Autosomal Dominant 2b

ClinVar genetic disease variations for Deafness, Autosomal Dominant 2b:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJB3 NM_024009.3(GJB3):c.538C>T (p.Arg180Ter) SNV Pathogenic 6486 rs74315319 GRCh37: 1:35250901-35250901
GRCh38: 1:34785300-34785300
2 GJB3 NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) SNV Pathogenic 6485 rs74315318 GRCh37: 1:35250910-35250910
GRCh38: 1:34785309-34785309
3 GJB3 NM_024009.3(GJB3):c.499G>A (p.Val167Met) SNV Uncertain significance 289016 rs376748531 GRCh37: 1:35250862-35250862
GRCh38: 1:34785261-34785261
4 GJB3 NM_024009.3(GJB3):c.316C>T (p.Arg106Cys) SNV Uncertain significance 876777 GRCh37: 1:35250679-35250679
GRCh38: 1:34785078-34785078

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 2b:

72
# Symbol AA change Variation ID SNP ID
1 GJB3 p.Ile141Val VAR_015087 rs74315320

Expression for Deafness, Autosomal Dominant 2b

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 2b.

Pathways for Deafness, Autosomal Dominant 2b

GO Terms for Deafness, Autosomal Dominant 2b

Cellular components related to Deafness, Autosomal Dominant 2b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 8.96 GJB3 GJB2
2 connexin complex GO:0005922 8.62 GJB3 GJB2

Biological processes related to Deafness, Autosomal Dominant 2b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.26 POU4F3 KCNQ4
2 sensory perception of sound GO:0007605 9.23 TRIOBP POU4F3 KCNQ4 GJB2 CRYM COCH
3 inner ear development GO:0048839 9.16 POU4F3 GJB2
4 cell communication GO:0007154 8.96 GJB3 GJB2

Molecular functions related to Deafness, Autosomal Dominant 2b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJB3 GJB2

Sources for Deafness, Autosomal Dominant 2b

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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