MCID: DFN098
MIFTS: 19

Deafness, Autosomal Dominant 3a

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

Aliases & Classifications for Deafness, Autosomal Dominant 3a

MalaCards integrated aliases for Deafness, Autosomal Dominant 3a:

Name: Deafness, Autosomal Dominant 3a 53 28 13 69
Dfna3a 53 12 71
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3a 71
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3a 71
Autosomal Dominant Nonsyndromic Deafness 3a 12
Deafness, Autosomal Dominant, 3a 71
Autosomal Dominant Deafness 3a 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 53 601544
Disease Ontology 12 DOID:0110564
ICD10 32 H90.3
MedGen 39 C2675750
MeSH 41 D006319
SNOMED-CT via HPO 65 263681008 60700002
UMLS 69 C2675750

Summaries for Deafness, Autosomal Dominant 3a

UniProtKB/Swiss-Prot : 71 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, is also known as dfna3a, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Dominant 3a is GJB2 (Gap Junction Protein Beta 2). Affiliated tissues include brain.

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 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 3a

Symptoms via clinical synopsis from OMIM:

53
Ears:
nonsyndromic neurosensory deafness


Clinical features from OMIM:

601544

Human phenotypes related to Deafness, Autosomal Dominant 3a:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 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 28 GJB2

Anatomical Context for Deafness, Autosomal Dominant 3a

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

38
Brain

Publications for Deafness, Autosomal Dominant 3a

Variations for Deafness, Autosomal Dominant 3a

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

71
# 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 all 39)
# 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.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh37 Chromosome 13, 20763492: 20763492
3 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
4 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
5 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
6 GJB2 NM_004004.5(GJB2): c.223C> T (p.Arg75Trp) single nucleotide variant Pathogenic rs104894402 GRCh37 Chromosome 13, 20763498: 20763498
7 GJB2 NM_004004.5(GJB2): c.235delC (p.Leu79Cysfs) deletion Pathogenic rs80338943 GRCh37 Chromosome 13, 20763486: 20763486
8 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
9 GJB2 NM_004004.5(GJB2): c.428G> A (p.Arg143Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894401 GRCh37 Chromosome 13, 20763293: 20763293
10 GJB2 NM_004004.5(GJB2): c.605G> T (p.Cys202Phe) single nucleotide variant Pathogenic rs104894406 GRCh37 Chromosome 13, 20763116: 20763116
11 GJB2 NM_004004.5(GJB2): c.132G> C (p.Trp44Cys) single nucleotide variant Pathogenic rs104894407 GRCh37 Chromosome 13, 20763589: 20763589
12 GJB2 NM_004004.5(GJB2): c.535G> A (p.Asp179Asn) single nucleotide variant Pathogenic rs28931595 GRCh37 Chromosome 13, 20763186: 20763186
13 GJB2 NM_004004.5(GJB2): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs28931593 GRCh37 Chromosome 13, 20763497: 20763497
14 GJB2 NM_004004.5(GJB2): c.131G> C (p.Trp44Ser) single nucleotide variant Pathogenic rs104894413 GRCh37 Chromosome 13, 20763590: 20763590
15 GJB2 NM_004004.5(GJB2): c.250G> A (p.Val84Met) single nucleotide variant Pathogenic rs104894409 GRCh37 Chromosome 13, 20763471: 20763471
16 GJB2 NM_004004.5(GJB2): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic/Likely pathogenic rs1801002 GRCh37 Chromosome 13, 20763686: 20763686
17 GJB2 NM_004004.5(GJB2): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs80338950 GRCh37 Chromosome 13, 20763170: 20763170
18 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh37 Chromosome 13, 20763438: 20763438
19 GJB2 NM_004004.5(GJB2): c.31_68del38 (p.Gly11Leufs) deletion Pathogenic/Likely pathogenic rs397516873 GRCh37 Chromosome 13, 20763653: 20763690
20 GJB2 NM_004004.5(GJB2): c.365A> T (p.Lys122Ile) single nucleotide variant Pathogenic/Likely pathogenic rs111033295 GRCh37 Chromosome 13, 20763356: 20763356
21 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh37 Chromosome 13, 20763305: 20763305
22 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh37 Chromosome 13, 20763104: 20763104
23 GJB2 NM_004004.5(GJB2): c.95G> A (p.Arg32His) single nucleotide variant Pathogenic rs111033190 GRCh37 Chromosome 13, 20763626: 20763626
24 GJB2 NM_004004.5(GJB2): c.647_650delGATA (p.Arg216Ilefs) deletion Pathogenic/Likely pathogenic rs587783647 GRCh38 Chromosome 13, 20188932: 20188935
25 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh37 Chromosome 13, 20763590: 20763590
26 GJB2 NM_004004.5(GJB2): c.598G> A (p.Gly200Arg) single nucleotide variant Pathogenic/Likely pathogenic rs786204597 GRCh37 Chromosome 13, 20763123: 20763123
27 GJB2 NM_004004.5(GJB2): c.389G> C (p.Gly130Ala) single nucleotide variant Likely pathogenic rs779018464 GRCh38 Chromosome 13, 20189193: 20189193
28 GJB2 NM_004004.5(GJB2): c.575_576delCA (p.Thr192Serfs) deletion Likely pathogenic rs1057517521 GRCh37 Chromosome 13, 20763145: 20763146
29 GJB2 NM_004004.5(GJB2): c.564_565delGA (p.Lys188Asnfs) deletion Likely pathogenic rs770116143 GRCh37 Chromosome 13, 20763156: 20763157
30 GJB2 NM_004004.5(GJB2): c.514delT (p.Trp172Glyfs) deletion Likely pathogenic rs1057517508 GRCh38 Chromosome 13, 20189068: 20189068
31 GJB2 NM_004004.5(GJB2): c.439G> A (p.Glu147Lys) single nucleotide variant Pathogenic/Likely pathogenic rs767178508 GRCh37 Chromosome 13, 20763282: 20763282
32 GJB2 NM_004004.5(GJB2): c.238C> T (p.Gln80Ter) single nucleotide variant Likely pathogenic rs199883710 GRCh37 Chromosome 13, 20763483: 20763483
33 GJB2 NM_004004.5(GJB2): c.134delG (p.Gly45Glufs) deletion Likely pathogenic rs1057517491 GRCh38 Chromosome 13, 20189448: 20189448
34 GJB2 NM_004004.5(GJB2): c.59T> C (p.Ile20Thr) single nucleotide variant Likely pathogenic rs1057517519 GRCh38 Chromosome 13, 20189523: 20189523
35 GJB2 NM_004004.5(GJB2): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs371086981 GRCh37 Chromosome 13, 20763719: 20763719
36 GJB2 NM_004004.5(GJB2): c.487A> C (p.Met163Leu) single nucleotide variant Pathogenic rs80338949 GRCh37 Chromosome 13, 20763234: 20763234
37 GJB2 NM_004004.5(GJB2): c.172C> G (p.Pro58Ala) single nucleotide variant Pathogenic rs1064797090 GRCh37 Chromosome 13, 20763549: 20763549
38 GJB2 NM_004004.5(GJB2): c.164C> A (p.Thr55Asn) single nucleotide variant Pathogenic rs1064797089 GRCh37 Chromosome 13, 20763557: 20763557
39 GJB2 NM_004004.5(GJB2): c.136G> A (p.Asp46Asn) single nucleotide variant Pathogenic rs1064797088 GRCh37 Chromosome 13, 20763585: 20763585

Expression for Deafness, Autosomal Dominant 3a

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

Pathways for Deafness, Autosomal Dominant 3a

GO Terms for Deafness, Autosomal Dominant 3a

Sources for Deafness, Autosomal Dominant 3a

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7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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36 KEGG
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39 MedGen
41 MeSH
42 MESH via Orphanet
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50 NINDS
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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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