MCID: DFN201
MIFTS: 25

Deafness, Autosomal Recessive 3

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

Aliases & Classifications for Deafness, Autosomal Recessive 3

MalaCards integrated aliases for Deafness, Autosomal Recessive 3:

Name: Deafness, Autosomal Recessive 3 54 29 13 69
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 3 71
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 3 71
Neurosensory Nonsyndromic Recessive Deafness 3 71
Deafness Neurosensory Autosomal Recessive 3 71
Deafness, Autosomal Recessive, 3 71
Dfnb3 71
Nsrd3 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive (17p12-q12)


HPO:

32
deafness, autosomal recessive 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 600316
MedGen 40 C1838263
MeSH 42 D006319
SNOMED-CT via HPO 65 258211005

Summaries for Deafness, Autosomal Recessive 3

UniProtKB/Swiss-Prot : 71 Deafness, autosomal recessive, 3: 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 Recessive 3, also known as non-syndromic sensorineural deafness autosomal recessive type 3, is related to autosomal recessive nonsyndromic deafness 3 and dfnb 3 nonsyndromic hearing loss and deafness, and has symptoms including profound sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 3 is MYO15A (Myosin XVA). Affiliated tissues include brain.

Description from OMIM: 600316

Related Diseases for Deafness, Autosomal Recessive 3

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 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
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 Dominant 70 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 Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 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 Recessive 97
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 106
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 Dominant 73 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 Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 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 Recessive 107
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 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
Otof-Related Deafness

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

id Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 3 10.9
2 dfnb 3 nonsyndromic hearing loss and deafness 10.8
3 nonsyndromic deafness 9.9

Symptoms & Phenotypes for Deafness, Autosomal Recessive 3

Symptoms via clinical synopsis from OMIM:

54

Ears:
profound, congenital, neurosensory, nonsyndromal deafness


Clinical features from OMIM:

600316

Human phenotypes related to Deafness, Autosomal Recessive 3:

32
id Description HPO Frequency HPO Source Accession
1 profound sensorineural hearing impairment 32 HP:0011476

Drugs & Therapeutics for Deafness, Autosomal Recessive 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Deafness, Autosomal Recessive 3

Genetic Tests for Deafness, Autosomal Recessive 3

Genetic tests related to Deafness, Autosomal Recessive 3:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 3 29

Anatomical Context for Deafness, Autosomal Recessive 3

MalaCards organs/tissues related to Deafness, Autosomal Recessive 3:

39
Brain

Publications for Deafness, Autosomal Recessive 3

Variations for Deafness, Autosomal Recessive 3

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

71
id Symbol AA change Variation ID SNP ID
1 MYO15A p.Asn2111Tyr VAR_010303 rs121908966
2 MYO15A p.Ile2113Phe VAR_010304 rs121908965
3 MYO15A p.Gln2716His VAR_037964 rs121908969
4 MYO15A p.Leu1806Pro VAR_071648

ClinVar genetic disease variations for Deafness, Autosomal Recessive 3:

6 (show all 44)
id Gene Variation Type Significance SNP ID Assembly Location
1 MYO15A NM_016239.3(MYO15A): c.6337A> T (p.Ile2113Phe) single nucleotide variant Pathogenic rs121908965 GRCh37 Chromosome 17, 18049249: 18049249
2 MYO15A NM_016239.3(MYO15A): c.6331A> T (p.Asn2111Tyr) single nucleotide variant Pathogenic rs121908966 GRCh37 Chromosome 17, 18049243: 18049243
3 MYO15A NM_016239.3(MYO15A): c.7801A> T (p.Lys2601Ter) single nucleotide variant Pathogenic rs121908967 GRCh37 Chromosome 17, 18055173: 18055173
4 MYO15A NM_016239.3(MYO15A): c.3685C> T (p.Gln1229Ter) single nucleotide variant Pathogenic rs121908968 GRCh37 Chromosome 17, 18027872: 18027872
5 MYO15A MYO15A, IVS4DS, G-T, +1 single nucleotide variant Pathogenic
6 MYO15A NM_016239.3(MYO15A): c.8148G> T (p.Gln2716His) single nucleotide variant Pathogenic rs121908969 GRCh37 Chromosome 17, 18057504: 18057504
7 MYO15A NM_016239.3(MYO15A): c.3313G> T (p.Glu1105Ter) single nucleotide variant Pathogenic rs121908971 GRCh37 Chromosome 17, 18025427: 18025427
8 MYO15A MYO15A, 1-BP DEL, 3334G deletion Pathogenic
9 MYO15A NM_016239.3(MYO15A): c.5492G> T (p.Gly1831Val) single nucleotide variant Pathogenic rs121908972 GRCh37 Chromosome 17, 18044418: 18044418
10 MYO15A MYO15A, IVS50AS, G-C, -1 single nucleotide variant Pathogenic
11 MYO15A MYO15A, 1-BP DEL, 10573A deletion Pathogenic
12 MYO15A MYO15A, 4-BP DEL, 9957TGAC deletion Pathogenic
13 MYO15A NM_016239.3(MYO15A): c.8714-1G> A single nucleotide variant Pathogenic rs377015931 GRCh37 Chromosome 17, 18060469: 18060469
14 MYO15A NM_016239.3(MYO15A): c.3311dupG (p.Glu1105Terfs) duplication Pathogenic rs794729637 GRCh38 Chromosome 17, 18122111: 18122111
15 MYO15A NM_016239.3(MYO15A): c.8183G> A (p.Arg2728His) single nucleotide variant Likely pathogenic rs184435771 GRCh37 Chromosome 17, 18058028: 18058028
16 MYO15A NM_016239.3(MYO15A): c.6340G> A (p.Val2114Met) single nucleotide variant Pathogenic rs377385081 GRCh38 Chromosome 17, 18145938: 18145938
17 MYO15A NM_016239.3(MYO15A): c.7207G> T (p.Asp2403Tyr) single nucleotide variant Pathogenic rs878853227 GRCh38 Chromosome 17, 18149575: 18149575
18 MYO15A NM_016239.3(MYO15A): c.8340G> A (p.Thr2780=) single nucleotide variant Pathogenic rs878853228 GRCh38 Chromosome 17, 18155225: 18155225
19 MYO15A NM_016239.3(MYO15A): c.8467G> A (p.Asp2823Asn) single nucleotide variant Pathogenic rs878853238 GRCh38 Chromosome 17, 18156202: 18156202
20 MYO15A NC_000017.1 insertion Pathogenic
21 MYO15A NM_016239.3(MYO15A): c.742C> G (p.Arg248Gly) single nucleotide variant Pathogenic rs878854409 GRCh37 Chromosome 17, 18022856: 18022856
22 MYO15A NM_016239.3(MYO15A): c.3944G> A (p.Gly1315Glu) single nucleotide variant Pathogenic rs878854410 GRCh37 Chromosome 17, 18030391: 18030391
23 MYO15A NM_016239.3(MYO15A): c.4108C> T (p.Arg1370Cys) single nucleotide variant Pathogenic rs878854411 GRCh37 Chromosome 17, 18034622: 18034622
24 MYO15A NM_016239.3(MYO15A): c.4780G> C (p.Asp1594His) single nucleotide variant Pathogenic rs878854412 GRCh37 Chromosome 17, 18040898: 18040898
25 MYO15A NM_016239.3(MYO15A): c.5335delC (p.Leu1779Trpfs) deletion Pathogenic rs878854413 GRCh38 Chromosome 17, 18140640: 18140640
26 MYO15A NM_016239.3(MYO15A): c.5809C> T (p.Arg1937Cys) single nucleotide variant Pathogenic rs749465098 GRCh38 Chromosome 17, 18142238: 18142238
27 MYO15A NM_016239.3(MYO15A): c.6146C> A (p.Pro2049His) single nucleotide variant Pathogenic rs878854414 GRCh38 Chromosome 17, 18143969: 18143969
28 MYO15A NM_016239.3(MYO15A): c.6178-2A> G single nucleotide variant Pathogenic rs878854415 GRCh37 Chromosome 17, 18047809: 18047809
29 MYO15A NM_016239.3(MYO15A): c.6589C> T (p.Gln2197Ter) single nucleotide variant Pathogenic rs779445819 GRCh37 Chromosome 17, 18051422: 18051422
30 MYO15A NM_016239.3(MYO15A): c.3866+1G> A single nucleotide variant Pathogenic rs374742590 GRCh37 Chromosome 17, 18029771: 18029771
31 MYO15A NM_016239.3(MYO15A): c.6764+2T> A single nucleotide variant Likely pathogenic rs763975867 GRCh37 Chromosome 17, 18051884: 18051884
32 MYO15A NM_016239.3(MYO15A): c.6178-1G> A single nucleotide variant Pathogenic rs886044338 GRCh37 Chromosome 17, 18047810: 18047810
33 MYO15A NM_016239.3(MYO15A): c.10209delGinsCCAGGCCCGTGCAGCTC (p.Gln3403Hisfs) indel Likely pathogenic rs1057519601 GRCh37 Chromosome 17, 18075078: 18075078
34 MYO15A NM_016239.3(MYO15A): c.3932T> C (p.Ile1311Thr) single nucleotide variant Likely pathogenic rs1057519603 GRCh37 Chromosome 17, 18030170: 18030170
35 MYO15A NM_016239.3(MYO15A): c.4528C> T (p.Gln1510Ter) single nucleotide variant Pathogenic rs779077039 GRCh38 Chromosome 17, 18135756: 18135756
36 MYO15A NM_016239.3(MYO15A): c.6944delG (p.Gly2315Glufs) deletion Pathogenic rs1057519604 GRCh37 Chromosome 17, 18052254: 18052254
37 MYO15A NM_016239.3(MYO15A): c.9229+2T> C single nucleotide variant Pathogenic rs1057519606 GRCh37 Chromosome 17, 18062663: 18062663
38 MYO15A NM_016239.3(MYO15A): c.10572dupC (p.Ser3525Glnfs) duplication Pathogenic rs1057519607 GRCh37 Chromosome 17, 18082163: 18082163
39 MYO15A NM_016239.3(MYO15A): c.1223C> T (p.Ala408Val) single nucleotide variant Pathogenic rs191710555 GRCh37 Chromosome 17, 18023337: 18023337
40 MYO15A NM_016239.3(MYO15A): c.4240G> A (p.Glu1414Lys) single nucleotide variant Pathogenic rs1060499798 GRCh37 Chromosome 17, 18035800: 18035800
41 MYO15A NM_016239.3(MYO15A): c.9572G> A (p.Arg3191His) single nucleotide variant Pathogenic rs373520843 GRCh38 Chromosome 17, 18162639: 18162639
42 MYO15A NM_016239.3(MYO15A): c.625G> T (p.Glu209Ter) single nucleotide variant Pathogenic rs571594379 GRCh38 Chromosome 17, 18119425: 18119425
43 MYO15A NM_016239.3(MYO15A): c.5055dupC (p.Asn1686Glnfs) duplication Likely pathogenic GRCh38 Chromosome 17, 18138858: 18138858
44 MYO15A NM_016239.3(MYO15A): c.7124_7127delACAG (p.Asp2375Valfs) deletion Pathogenic GRCh38 Chromosome 17, 18149492: 18149495

Expression for Deafness, Autosomal Recessive 3

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

Pathways for Deafness, Autosomal Recessive 3

GO Terms for Deafness, Autosomal Recessive 3

Sources for Deafness, Autosomal Recessive 3

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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