DFNA3B
MCID: DFN102
MIFTS: 22

Deafness, Autosomal Dominant 3b (DFNA3B) malady

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

Aliases & Classifications for Deafness, Autosomal Dominant 3b

Aliases & Descriptions for Deafness, Autosomal Dominant 3b:

Name: Deafness, Autosomal Dominant 3b 54 13 69
Deafness, Autosomal Dominant, 3b 66 29
Dfna3b 12 66
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3b 66
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3b 66
Autosomal Dominant Nonsyndromic Deafness 3b 12
Autosomal Dominant Deafness 3b 12

Characteristics:

HPO:

32
deafness, autosomal dominant 3b:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 612643
Disease Ontology 12 DOID:0110565
ICD10 33 H90.3
MedGen 40 C2675237
MeSH 42 D006319

Summaries for Deafness, Autosomal Dominant 3b

UniProtKB/Swiss-Prot : 66 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 deafness, autosomal dominant, 3b, is related to gjb6-related dfna 3 nonsyndromic hearing loss and deafness, 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 Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 32
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Recessive 42 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 6/14/38
Deafness, Autosomal Recessive 25 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 55 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 24 Deafness, Autosomal Recessive 49
Deafness, Autosomal Dominant 1 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 15 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 104
Deafness, Autosomal Recessive 66 Deafness, Autosomal Dominant 13
Deafness, Autosomal Recessive 53 Deafness, Autosomal Dominant 31
Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 10 Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 39 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 17
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness, Autosomal Recessive 18b
Deafness, Autosomal Dominant 59 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 63
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 8/12 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 20
Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 102
Deafness, Autosomal Dominant 48 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 48 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 20/26
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 4b
Deafness, Autosomal Dominant 4a Deafness, Autosomal Dominant 67
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 29
Deafness, Autosomal Recessive 8/10 Deafness, Autosomal Recessive 98
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 28 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Recessive Nonsyndromic Deafness 97 Autosomal Dominant Nonsyndromic Deafness 12
Autosomal Dominant Nonsyndromic Deafness 20 Autosomal Dominant Nonsyndromic Deafness 6
Autosomal Dominant Nonsyndromic Deafness 66 Autosomal Dominant Nonsyndromic Deafness 68
Autosomal Dominant Nonsyndromic Deafness 69 Autosomal Dominant Nonsyndromic Deafness 70
Otof-Related Deafness

Diseases related to Deafness, Autosomal Dominant 3b via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 gjb6-related dfna 3 nonsyndromic hearing loss and deafness 11.0

Symptoms & Phenotypes for Deafness, Autosomal Dominant 3b

Symptoms by clinical synopsis from OMIM:

612643

Clinical features from OMIM:

612643

Human phenotypes related to Deafness, Autosomal Dominant 3b:

32
id Description HPO Frequency HPO Source Accession
1 adult onset sensorineural hearing impairment 32 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:

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

Anatomical Context for Deafness, Autosomal Dominant 3b

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

39
Brain

Publications for Deafness, Autosomal Dominant 3b

Variations for Deafness, Autosomal Dominant 3b

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

66
id Symbol AA change Variation ID SNP ID
1 GJB6 p.Thr5Met VAR_008711 rs104894414

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

6
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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