DFNA2B
MCID: DFN099
MIFTS: 30

Deafness, Autosomal Dominant 2b (DFNA2B)

Categories: Blood diseases, 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 56 29 13 6 71
Dfna2b 56 12 73
Autosomal Dominant Nonsyndromic Deafness 2b 12 15
Deafness, Autosomal Dominant, Type 2b 39
Deafness, Autosomal Dominant, 2b 73
Autosomal Dominant Deafness 2b 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110559
OMIM 56 612644
OMIM Phenotypic Series 56 PS124900
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C2675236
SNOMED-CT via HPO 68 232326009 263681008 48758008
UMLS 71 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 nonsyndromic deafness and hypotrichosis-deafness syndrome. 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 : 73 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 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 Dominant 2b via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 10.2 KCNQ4 GJB2
2 hypotrichosis-deafness syndrome 10.1 GJB3 GJB2
3 nonsyndromic hearing loss and deafness, dfnb1 10.1 GJB3 GJB2
4 dfnb1 10.1 GJB3 GJB2
5 pseudoainhum 10.1 GJB3 GJB2
6 deafness, autosomal dominant 1 10.1 TRIOBP GJB2
7 deafness, autosomal recessive 28 10.1 TRIOBP CABP2
8 hereditary lymphedema ic 10.1 GJB3 GJB2
9 palmoplantar keratoderma and congenital alopecia 1 10.1 GJB3 GJB2
10 erythrokeratoderma 10.1 GJB3 GJB2
11 deafness, autosomal dominant 3b 10.1 GJB3 GJB2
12 bart-pumphrey syndrome 10.1 GJB3 GJB2
13 knuckle pads 10.1 GJB3 GJB2
14 drug-induced hearing loss 10.1 GJB3 GJB2
15 keratoderma, palmoplantar, with deafness 10.1 GJB3 GJB2
16 deafness, autosomal dominant 64 10.1 KCNQ4 GJB2
17 deafness, autosomal recessive 1b 10.1 GJB3 GJB2
18 clouston syndrome 10.0 GJB3 GJB2
19 deafness, autosomal recessive 39 10.0 TRIOBP GJB2
20 oculodentodigital dysplasia 10.0 GJB3 GJB2
21 cogan syndrome 10.0 GJB2 COCH
22 deafness, autosomal dominant 56 10.0 GJB2 COCH
23 vohwinkel syndrome 10.0 GJB3 GJB2
24 autosomal recessive nonsyndromic deafness 9.9 TRIOBP GJB2
25 palmoplantar keratoderma, epidermolytic 9.9 GJB3 GJB2
26 waardenburg syndrome, type 1 9.9 GJB2 COCH
27 deafness, autosomal recessive 12 9.9 TRIOBP GJB2
28 deafness, autosomal recessive 93 9.8 TRIOBP GJB2 CABP2
29 hereditary hearing loss and deafness 9.8 COCH CCDC50
30 nevus, epidermal 9.8 GJB3 GJB2
31 deafness, autosomal dominant 53 9.8 POU4F3 COCH
32 deafness, autosomal dominant 28 9.8 KCNQ4 CRYM COCH
33 peripheral vertigo 9.8 KCNQ4 GJB2 COCH
34 erythrokeratodermia variabilis et progressiva 1 9.8 GJB3 GJB2
35 rare genetic deafness 9.7 KCNQ4 GJB2 COCH
36 deafness, autosomal dominant 24 9.7 POU4F3 CCDC50
37 palmoplantar keratosis 9.6 GJB3 GJB2
38 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.6 TRIOBP GJB3 GJB2 CABP2
39 deafness, autosomal dominant 50 9.6 POU4F3 CCDC50
40 vestibular disease 9.6 KCNQ4 GJB3 GJB2 COCH
41 deafness, autosomal dominant 20 9.6 POU4F3 KCNQ4 COCH
42 inner ear disease 9.5 KCNQ4 GJB3 GJB2 COCH
43 x-linked nonsyndromic deafness 9.5 POU4F3 GJB3 GJB2
44 deafness, autosomal dominant 41 9.5 POU4F3 KCNQ4 GJB2
45 non-syndromic genetic deafness 9.5 TRIOBP KCNQ4 GJB2 COCH
46 deafness, autosomal dominant 3a 9.5 GJB3 GJB2 CRYM COCH
47 deafness, autosomal recessive 91 9.5 GJB3 GJB2 CRYM COCH
48 deafness, autosomal dominant 11 9.4 POU4F3 GJB2 COCH
49 deafness, autosomal dominant 10 9.4 POU4F3 KCNQ4 CCDC50
50 deafness, autosomal dominant 43 9.4 POU4F3 COCH CCDC50

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:

56
Head And Neck Ears:
hearing loss, bilateral high-frequency, sensorineural

Clinical features from OMIM:

612644

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

45
# 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. 56 6
9843210 1998
2
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
3
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
4
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 GRCh37 Pos GRCh38 Pos
1 GJB3 NM_024009.3(GJB3):c.547G>A (p.Glu183Lys)SNV Conflicting interpretations of pathogenicity 6485 rs74315318 1:35250910-35250910 1:34785309-34785309
2 GJB3 NM_024009.3(GJB3):c.499G>A (p.Val167Met)SNV Conflicting interpretations of pathogenicity 289016 rs376748531 1:35250862-35250862 1:34785261-34785261
3 GJB3 NM_024009.3(GJB3):c.538C>T (p.Arg180Ter)SNV Uncertain significance 6486 rs74315319 1:35250901-35250901 1:34785300-34785300

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

73
# 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
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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