DFNA3B
MCID: DFN102
MIFTS: 35

Deafness, Autosomal Dominant 3b (DFNA3B)

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

Aliases & Classifications for Deafness, Autosomal Dominant 3b

MalaCards integrated aliases for Deafness, Autosomal Dominant 3b:

Name: Deafness, Autosomal Dominant 3b 56 29 13 6 71
Dfna3b 56 12 73
Autosomal Dominant Nonsyndromic Deafness 3b 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3b 73
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3b 73
Deafness, Autosomal Dominant, Type 3b 39
Deafness, Autosomal Dominant, 3b 73
Autosomal Dominant Deafness 3b 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
one italian family has been described (last curated august 2015)


HPO:

31
deafness, autosomal dominant 3b:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110565
OMIM 56 612643
OMIM Phenotypic Series 56 PS124900
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C2675237
SNOMED-CT via HPO 68 263681008
UMLS 71 C2675237

Summaries for Deafness, Autosomal Dominant 3b

UniProtKB/Swiss-Prot : 73 Deafness, autosomal dominant, 3B: A form of non-syndromic sensorineural hearing loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. 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 Dominant 3b, also known as dfna3b, is related to nonsyndromic hearing loss and deafness, dfna3 and purulent labyrinthitis. An important gene associated with Deafness, Autosomal Dominant 3b is GJB6 (Gap Junction Protein Beta 6), and among its related pathways/superpathways are Myometrial Relaxation and Contraction Pathways and Gap junction trafficking. Affiliated tissues include brain, and related phenotypes are adult onset sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in mutation in the GJB6 gene on chromosome 13q12.

More information from OMIM: 612643 PS124900

Related Diseases for Deafness, Autosomal Dominant 3b

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 3b via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic hearing loss and deafness, dfna3 10.2 GJB6 GJB2
2 purulent labyrinthitis 10.2 GJB6 GJB2
3 viral labyrinthitis 10.2 GJB6 GJB2
4 hypotrichosis-deafness syndrome 10.2 GJB3 GJB2
5 congenital cytomegalovirus 10.2 GJB6 GJB2
6 keratitis-ichthyosis-deafness syndrome, autosomal dominant 10.2 GJB6 GJB2
7 hereditary lymphedema ic 10.2 GJB3 GJB2
8 palmoplantar keratoderma and congenital alopecia 1 10.2 GJB3 GJB2
9 erythrokeratoderma 10.2 GJB3 GJB2
10 deafness, autosomal dominant 2b 10.2 GJB3 GJB2
11 drug-induced hearing loss 10.1 GJB3 GJB2
12 deafness, autosomal recessive 7 10.1 OTOA GJB2
13 deafness, autosomal dominant 2a 10.1 GJB3 GJB2
14 deafness, autosomal dominant 9 10.1 GJB3 GJB2
15 deafness, autosomal dominant 64 10.1 GJB2 CEACAM16
16 deafness, autosomal recessive 39 10.0 OTOA GJB2
17 deafness, autosomal recessive 16 10.0 OTOA GJB2
18 palmoplantar keratoderma, epidermolytic 10.0 GJB3 GJB2
19 nonsyndromic hearing loss and deafness, dfnb1 10.0 GJB6 GJB3 GJB2
20 dfnb1 10.0 GJB6 GJB3 GJB2
21 pseudoainhum 10.0 GJB6 GJB3 GJB2
22 deafness, autosomal dominant 3a 10.0 GJB6 GJB3 GJB2
23 nevus, epidermal 10.0 GJB3 GJB2
24 bart-pumphrey syndrome 10.0 GJB6 GJB3 GJB2
25 knuckle pads 10.0 GJB6 GJB3 GJB2
26 deafness, x-linked 3 10.0 TPRN SMPX
27 keratoderma, palmoplantar, with deafness 10.0 GJB6 GJB3 GJB2
28 pendred syndrome 10.0 GJB6 GJB2
29 clouston syndrome 10.0 GJB6 GJB3 GJB2
30 vestibular disease 10.0 GJB6 GJB3 GJB2
31 oculodentodigital dysplasia 10.0 GJB6 GJB3 GJB2
32 vohwinkel syndrome 9.9 GJB6 GJB3 GJB2
33 palmoplantar keratosis 9.9 GJB6 GJB3 GJB2
34 inner ear disease 9.9 GJB6 GJB3 GJB2
35 deafness, autosomal recessive 66 9.9 OTOA CEACAM16
36 postaxial acrofacial dysostosis 9.9 TPRN CEACAM16
37 deafness, autosomal recessive 9 9.9 TECTA GJB2
38 deafness, autosomal recessive 2 9.9 TECTA GJB2
39 deafness, autosomal dominant 20 9.9 TPRN SMPX
40 deafness, autosomal dominant 6 9.8 TECTA GJB2
41 deafness, autosomal recessive 26 9.8 TECTA GJB2
42 ectodermal dysplasia 9.8 GJB6 GJB3 GJB2
43 usher syndrome type 2 9.8 OTOA GJB2
44 deafness, autosomal recessive 29 9.8 TECTA GJB2
45 deafness, autosomal recessive 53 9.7 TECTA CEACAM16
46 deafness, autosomal recessive 24 9.7 TPRN TECTA
47 usher syndrome, type id 9.7 TECTA GJB2
48 keratitis, hereditary 9.7 GJB6 GJB2
49 branchiootic syndrome 1 9.7 TECTA GJB2
50 deafness, autosomal dominant 12 9.7 TECTA CEACAM16

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 3b:



Diseases related to Deafness, Autosomal Dominant 3b

Symptoms & Phenotypes for Deafness, Autosomal Dominant 3b

Human phenotypes related to Deafness, Autosomal Dominant 3b:

31
# Description HPO Frequency HPO Source Accession
1 adult onset sensorineural hearing impairment 31 HP:0008615

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, bilateral (middle-to-high frequency)

Clinical features from OMIM:

612643

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 3b:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.5 CEACAM16 GJB2 GJB3 GJB6 OTOA TECTA
2 no phenotypic analysis MP:0003012 9.02 GJB2 GJB3 GJB6 SMPX TECTA

Drugs & Therapeutics for Deafness, Autosomal Dominant 3b

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 3b

Genetic Tests for Deafness, Autosomal Dominant 3b

Genetic tests related to Deafness, Autosomal Dominant 3b:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 3b 29 GJB6

Anatomical Context for Deafness, Autosomal Dominant 3b

MalaCards organs/tissues related to Deafness, Autosomal Dominant 3b:

40
Brain

Publications for Deafness, Autosomal Dominant 3b

Articles related to Deafness, Autosomal Dominant 3b:

# Title Authors PMID Year
1
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. 56 6
10471490 1999
2
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
3
The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice. 6
20858605 2010
4
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
5
Nonsyndromic Hearing Loss and Deafness, DFNA3 6
20301708 1998

Variations for Deafness, Autosomal Dominant 3b

ClinVar genetic disease variations for Deafness, Autosomal Dominant 3b:

6 (show all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GJB6 NM_001110219.3(GJB6):c.119C>T (p.Ala40Val)SNV Pathogenic 424855 rs780320724 13:20797501-20797501 13:20223362-20223362
2 GJB6 NM_001110219.3(GJB6):c.14C>T (p.Thr5Met)SNV Pathogenic 5543 rs104894414 13:20797606-20797606 13:20223467-20223467
3 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)SNV Pathogenic 5544 rs104894415 13:20797589-20797589 13:20223450-20223450
4 GJB6 NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)SNV Pathogenic 5545 rs28937872 13:20797357-20797357 13:20223218-20223218
5 GJB6 NM_001110219.3(GJB6):c.489G>A (p.Leu163=)SNV Conflicting interpretations of pathogenicity 45503 rs35002004 13:20797131-20797131 13:20222992-20222992
6 GJB6 NM_001110219.3(GJB6):c.177A>G (p.Gly59=)SNV Conflicting interpretations of pathogenicity 196442 rs371123633 13:20797443-20797443 13:20223304-20223304
7 GJB6 NM_001110219.3(GJB6):c.60C>T (p.Ile20=)SNV Conflicting interpretations of pathogenicity 311383 rs778513540 13:20797560-20797560 13:20223421-20223421
8 GJB6 NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys)SNV Uncertain significance 225377 rs571454176 13:20797319-20797319 13:20223180-20223180
9 GJB6 NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe)SNV Uncertain significance 426683 rs750540794 13:20797441-20797441 13:20223302-20223302
10 GJB6 NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly)SNV Uncertain significance 536989 rs141752846 13:20796989-20796989 13:20222850-20222850
11 GJB6 NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln)SNV Uncertain significance 663718 13:20797319-20797319 13:20223180-20223180
12 GJB6 NC_000013.10:g.(?_20716100)_(21398980_?)dupduplication Uncertain significance 656832 13:20716100-21398980 13:20141961-20824841
13 GJB6 NM_001110219.3(GJB6):c.228del (p.Trp77fs)deletion Uncertain significance 837505 13:20797392-20797392 13:20223253-20223253
14 GJB6 NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser)SNV Benign/Likely benign 45502 rs35277762 13:20797144-20797144 13:20223005-20223005
15 GJB6 NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr)SNV Benign/Likely benign 45504 rs111033338 13:20797025-20797025 13:20222886-20222886
16 GJB6 NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys)SNV Benign/Likely benign 188490 rs143766955 13:20797281-20797281 13:20223142-20223142

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 3b:

73
# Symbol AA change Variation ID SNP ID
1 GJB6 p.Thr5Met VAR_008711 rs104894414

Expression for Deafness, Autosomal Dominant 3b

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 3b.

Pathways for Deafness, Autosomal Dominant 3b

Pathways related to Deafness, Autosomal Dominant 3b according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.62 GJB6 GJB3 GJB2
2
Show member pathways
10.79 GJB6 GJB3 GJB2

GO Terms for Deafness, Autosomal Dominant 3b

Cellular components related to Deafness, Autosomal Dominant 3b according to GeneCards Suite gene sharing:

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

Biological processes related to Deafness, Autosomal Dominant 3b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.54 GJB6 GJB3 GJB2
2 inner ear development GO:0048839 9.4 GJB6 GJB2
3 gap junction assembly GO:0016264 9.32 GJB6 GJB2
4 cell communication by electrical coupling GO:0010644 9.26 GJB6 GJB2
5 gap junction-mediated intercellular transport GO:1990349 9.16 GJB6 GJB2
6 cell communication GO:0007154 9.13 GJB6 GJB3 GJB2
7 sensory perception of sound GO:0007605 9.1 TPRN TECTA OTOA GJB6 GJB2 CEACAM16

Molecular functions related to Deafness, Autosomal Dominant 3b 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 Deafness, Autosomal Dominant 3b

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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