MCID: DFN102
MIFTS: 18

Deafness, Autosomal Dominant 3b

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

Aliases & Classifications for Deafness, Autosomal Dominant 3b

MalaCards integrated aliases for Deafness, Autosomal Dominant 3b:

Name: Deafness, Autosomal Dominant 3b 53 28 13 69
Dfna3b 53 12 71
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3b 71
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3b 71
Autosomal Dominant Nonsyndromic Deafness 3b 12
Deafness, Autosomal Dominant, 3b 71
Autosomal Dominant Deafness 3b 12

Characteristics:

OMIM:

53
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:

OMIM 53 612643
Disease Ontology 12 DOID:0110565
ICD10 32 H90.3
MedGen 39 C2675237
MeSH 41 D006319
SNOMED-CT via HPO 65 263681008
UMLS 69 C2675237

Summaries for Deafness, Autosomal Dominant 3b

UniProtKB/Swiss-Prot : 71 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, is also known as dfna3b, and has symptoms including adult onset sensorineural hearing impairment An important gene associated with Deafness, Autosomal Dominant 3b is GJB6 (Gap Junction Protein Beta 6). Affiliated tissues include brain.

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

Description from OMIM: 612643

Related Diseases for Deafness, Autosomal Dominant 3b

Diseases in the Familial 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 32 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 Recessive 105 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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

Symptoms & Phenotypes for Deafness, Autosomal Dominant 3b

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, bilateral (middle-to-high frequency)


Clinical features from OMIM:

612643

Human phenotypes related to Deafness, Autosomal Dominant 3b:

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

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 28 GJB6

Anatomical Context for Deafness, Autosomal Dominant 3b

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

38
Brain

Publications for Deafness, Autosomal Dominant 3b

Variations for Deafness, Autosomal Dominant 3b

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

71
# Symbol AA change Variation ID SNP ID
1 GJB6 p.Thr5Met VAR_008711 rs104894414

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB6 NM_001110219.2(GJB6): c.14C> T (p.Thr5Met) single nucleotide variant Pathogenic rs104894414 GRCh37 Chromosome 13, 20797606: 20797606
2 GJB6 NM_001110219.2(GJB6): c.119C> T (p.Ala40Val) single nucleotide variant Pathogenic rs780320724 GRCh37 Chromosome 13, 20797501: 20797501

Expression for Deafness, Autosomal Dominant 3b

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

Pathways for Deafness, Autosomal Dominant 3b

GO Terms for Deafness, Autosomal Dominant 3b

Sources for Deafness, Autosomal Dominant 3b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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