MCID: DFN098
MIFTS: 28

Deafness, Autosomal Dominant 3a

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

Aliases & Classifications for Deafness, Autosomal Dominant 3a

MalaCards integrated aliases for Deafness, Autosomal Dominant 3a:

Name: Deafness, Autosomal Dominant 3a 57 29 13 6 73
Dfna3a 57 12 75
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3a 75
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3a 75
Autosomal Dominant Nonsyndromic Deafness 3a 12
Deafness, Autosomal Dominant, Type 3a 40
Deafness, Autosomal Dominant, 3a 75
Autosomal Dominant Deafness 3a 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in late childhood


HPO:

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


Classifications:



External Ids:

OMIM 57 601544
Disease Ontology 12 DOID:0110564
ICD10 33 H90.3
MedGen 42 C2675750
MeSH 44 D006319
SNOMED-CT via HPO 69 263681008 60700002
UMLS 73 C2675750

Summaries for Deafness, Autosomal Dominant 3a

UniProtKB/Swiss-Prot : 75 Deafness, autosomal dominant, 3A: A form of non-syndromic sensorineural hearing loss. 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 3a, also known as dfna3a, is related to erythrokeratodermia variabilis et progressiva 2 and hypotrichosis-deafness syndrome. An important gene associated with Deafness, Autosomal Dominant 3a is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Myometrial Relaxation and Contraction Pathways and Gap junction trafficking. Affiliated tissues include brain, and related phenotype is sensorineural hearing impairment.

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has material basis in mutation in the GJB2 gene on chromosome 13q12.

Description from OMIM: 601544

Related Diseases for Deafness, Autosomal Dominant 3a

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 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Nonsyndromic Deafness
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 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 erythrokeratodermia variabilis et progressiva 2 9.6 GJB4 LOC105378642
2 hypotrichosis-deafness syndrome 9.5 GJB2 GJB4
3 kid syndrome 9.5 GJB2 GJB4
4 pseudoainhum 9.5 GJB2 GJB4
5 knuckle pads, leukonychia, and sensorineural deafness 9.4 GJB2 GJB4
6 knuckle pads 9.4 GJB2 GJB4
7 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 9.4 GJB2 GJB4
8 oculodentodigital dysplasia 9.3 GJB2 GJB4
9 erythrokeratodermia variabilis et progressiva 1 9.2 GJB2 GJB4
10 clouston syndrome 9.1 GJB2 GJB4
11 deafness, autosomal recessive 1a 8.9 GJB2 GJB4 LOC105378642
12 skin disease 8.9 GJB2 GJB4

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



Diseases related to Deafness, Autosomal Dominant 3a

Symptoms & Phenotypes for Deafness, Autosomal Dominant 3a

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
deafness, neurosensory


Clinical features from OMIM:

601544

Human phenotypes related to Deafness, Autosomal Dominant 3a:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

Drugs & Therapeutics for Deafness, Autosomal Dominant 3a

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

Genetic Tests for Deafness, Autosomal Dominant 3a

Genetic tests related to Deafness, Autosomal Dominant 3a:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 3a 29 GJB2

Anatomical Context for Deafness, Autosomal Dominant 3a

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

41
Brain

Publications for Deafness, Autosomal Dominant 3a

Variations for Deafness, Autosomal Dominant 3a

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

75
# Symbol AA change Variation ID SNP ID
1 GJB2 p.Arg75Trp VAR_002140 rs104894402
2 GJB2 p.Trp44Cys VAR_008709 rs104894407
3 GJB2 p.Arg143Gln VAR_015940 rs104894401
4 GJB2 p.Cys202Phe VAR_015944 rs104894406
5 GJB2 p.Arg184Gln VAR_023614 rs80338950
6 GJB2 p.Ala197Ser VAR_023615
7 GJB2 p.Trp44Ser VAR_032749 rs104894413
8 GJB2 p.Asp179Asn VAR_032752 rs28931595
9 GJB2 p.Asp46Glu VAR_060798

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

6
(show top 50) (show all 103)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
2 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh38 Chromosome 13, 20189511: 20189511
3 GJB2 NM_004004.5(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh37 Chromosome 13, 20763492: 20763492
4 GJB2 NM_004004.5(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh38 Chromosome 13, 20189353: 20189353
5 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
6 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh38 Chromosome 13, 20189547: 20189547
7 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
8 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh38 Chromosome 13, 20189443: 20189443
9 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
10 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh38 Chromosome 13, 20189155: 20189155
11 GJB2 NM_004004.5(GJB2): c.223C> T (p.Arg75Trp) single nucleotide variant Pathogenic rs104894402 GRCh37 Chromosome 13, 20763498: 20763498
12 GJB2 NM_004004.5(GJB2): c.223C> T (p.Arg75Trp) single nucleotide variant Pathogenic rs104894402 GRCh38 Chromosome 13, 20189359: 20189359
13 GJB2 NM_004004.5(GJB2): c.235delC (p.Leu79Cysfs) deletion Pathogenic rs80338943 GRCh37 Chromosome 13, 20763486: 20763486
14 GJB2 NM_004004.5(GJB2): c.235delC (p.Leu79Cysfs) deletion Pathogenic rs80338943 GRCh38 Chromosome 13, 20189347: 20189347
15 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
16 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh38 Chromosome 13, 20189313: 20189313
17 GJB2 NM_004004.5(GJB2): c.428G> A (p.Arg143Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894401 GRCh37 Chromosome 13, 20763293: 20763293
18 GJB2 NM_004004.5(GJB2): c.428G> A (p.Arg143Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894401 GRCh38 Chromosome 13, 20189154: 20189154
19 GJB2 NM_004004.5(GJB2): c.605G> T (p.Cys202Phe) single nucleotide variant Pathogenic rs104894406 GRCh37 Chromosome 13, 20763116: 20763116
20 GJB2 NM_004004.5(GJB2): c.605G> T (p.Cys202Phe) single nucleotide variant Pathogenic rs104894406 GRCh38 Chromosome 13, 20188977: 20188977
21 GJB2 NM_004004.5(GJB2): c.132G> C (p.Trp44Cys) single nucleotide variant Pathogenic rs104894407 GRCh37 Chromosome 13, 20763589: 20763589
22 GJB2 NM_004004.5(GJB2): c.132G> C (p.Trp44Cys) single nucleotide variant Pathogenic rs104894407 GRCh38 Chromosome 13, 20189450: 20189450
23 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh37 Chromosome 13, 20763573: 20763573
24 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh38 Chromosome 13, 20189434: 20189434
25 GJB2 NM_004004.5(GJB2): c.535G> A (p.Asp179Asn) single nucleotide variant Pathogenic rs28931595 GRCh37 Chromosome 13, 20763186: 20763186
26 GJB2 NM_004004.5(GJB2): c.535G> A (p.Asp179Asn) single nucleotide variant Pathogenic rs28931595 GRCh38 Chromosome 13, 20189047: 20189047
27 GJB2 NM_004004.5(GJB2): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs28931593 GRCh37 Chromosome 13, 20763497: 20763497
28 GJB2 NM_004004.5(GJB2): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs28931593 GRCh38 Chromosome 13, 20189358: 20189358
29 GJB2 NM_004004.5(GJB2): c.131G> C (p.Trp44Ser) single nucleotide variant Pathogenic rs104894413 GRCh37 Chromosome 13, 20763590: 20763590
30 GJB2 NM_004004.5(GJB2): c.131G> C (p.Trp44Ser) single nucleotide variant Pathogenic rs104894413 GRCh38 Chromosome 13, 20189451: 20189451
31 GJB2 NM_004004.5(GJB2): c.250G> A (p.Val84Met) single nucleotide variant Pathogenic rs104894409 GRCh37 Chromosome 13, 20763471: 20763471
32 GJB2 NM_004004.5(GJB2): c.250G> A (p.Val84Met) single nucleotide variant Pathogenic rs104894409 GRCh38 Chromosome 13, 20189332: 20189332
33 GJB2 NM_004004.5(GJB2): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic/Likely pathogenic rs1801002 GRCh37 Chromosome 13, 20763686: 20763686
34 GJB2 NM_004004.5(GJB2): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic/Likely pathogenic rs1801002 GRCh38 Chromosome 13, 20189547: 20189547
35 GJB2 NM_004004.5(GJB2): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs80338950 GRCh37 Chromosome 13, 20763170: 20763170
36 GJB2 NM_004004.5(GJB2): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs80338950 GRCh38 Chromosome 13, 20189031: 20189031
37 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh37 Chromosome 13, 20763438: 20763438
38 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh38 Chromosome 13, 20189299: 20189299
39 GJB2 NM_004004.5(GJB2): c.299_300delAT (p.His100Argfs) deletion Pathogenic rs111033204 GRCh37 Chromosome 13, 20763421: 20763422
40 GJB2 NM_004004.5(GJB2): c.299_300delAT (p.His100Argfs) deletion Pathogenic rs111033204 GRCh38 Chromosome 13, 20189282: 20189283
41 GJB2 NM_004004.5(GJB2): c.313_326delAAGTTCATCAAGGG (p.Lys105Glyfs) deletion Pathogenic rs111033253 GRCh37 Chromosome 13, 20763395: 20763408
42 GJB2 NM_004004.5(GJB2): c.313_326delAAGTTCATCAAGGG (p.Lys105Glyfs) deletion Pathogenic rs111033253 GRCh38 Chromosome 13, 20189256: 20189269
43 GJB2 NM_004004.5(GJB2): c.31_68del38 (p.Gly11Leufs) deletion Pathogenic/Likely pathogenic rs397516873 GRCh37 Chromosome 13, 20763653: 20763690
44 GJB2 NM_004004.5(GJB2): c.31_68del38 (p.Gly11Leufs) deletion Pathogenic/Likely pathogenic rs397516873 GRCh38 Chromosome 13, 20189514: 20189551
45 GJB2 NM_004004.5(GJB2): c.365A> T (p.Lys122Ile) single nucleotide variant Pathogenic/Likely pathogenic rs111033295 GRCh37 Chromosome 13, 20763356: 20763356
46 GJB2 NM_004004.5(GJB2): c.365A> T (p.Lys122Ile) single nucleotide variant Pathogenic/Likely pathogenic rs111033295 GRCh38 Chromosome 13, 20189217: 20189217
47 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh37 Chromosome 13, 20763305: 20763305
48 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh38 Chromosome 13, 20189166: 20189166
49 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh37 Chromosome 13, 20763104: 20763104
50 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh38 Chromosome 13, 20188965: 20188965

Expression for Deafness, Autosomal Dominant 3a

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

Pathways for Deafness, Autosomal Dominant 3a

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.45 GJB2 GJB4
2
Show member pathways
10.61 GJB2 GJB4

GO Terms for Deafness, Autosomal Dominant 3a

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

# Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 8.96 GJB2 GJB4
2 connexin complex GO:0005922 8.62 GJB2 GJB4

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

# Name GO ID Score Top Affiliating Genes
1 cell communication GO:0007154 8.62 GJB2 GJB4

Sources for Deafness, Autosomal Dominant 3a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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