MCID: DFN201
MIFTS: 36

Deafness, Autosomal Recessive 3

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

Aliases & Classifications for Deafness, Autosomal Recessive 3

MalaCards integrated aliases for Deafness, Autosomal Recessive 3:

Name: Deafness, Autosomal Recessive 3 53 28 13 69
Dfnb3 53 71 51
Neurosensory Nonsyndromic Recessive Deafness 3 53 71
Nsrd3 53 71
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 3 71
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 3 71
Neurosensory Nonsyndromic Recessive Deafness 3; Nsrd3 53
Deafness Neurosensory Autosomal Recessive 3 71
Deafness, Autosomal Recessive, 3 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive (17p12-q12)


HPO:

31
deafness, autosomal recessive 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 600316
MedGen 39 C1838263
MeSH 41 D006319
SNOMED-CT via HPO 65 258211005
UMLS 69 C1838263

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 dfnb3, is related to autosomal recessive nonsyndromic deafness 3 and hodgkin's lymphoma, nodular sclerosis, and has symptoms including profound sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 3 is MYO15A (Myosin XVA), and among its related pathways/superpathways is RhoGDI Pathway. Affiliated tissues include brain, and related phenotypes are hearing/vestibular/ear and vision/eye

Description from OMIM: 600316

Related Diseases for Deafness, Autosomal Recessive 3

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

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 3 30.6 GJB2 MYO15A MYO7A
2 hodgkin's lymphoma, nodular sclerosis 10.0 GJB2 MYO15A
3 non-syndromic genetic deafness 10.0 GJB2 MYO15A
4 autosomal recessive nonsyndromic deafness 9.9 GJB2 MYO15A
5 dfnb1 9.8 GJB2 MYO7A
6 deafness, autosomal recessive 23 9.8 GJB2 MYO7A
7 deafness, autosomal recessive 6 9.8 GJB2 MYO7A
8 deafness, autosomal recessive 16 9.8 GJB2 MYO7A
9 deafness, autosomal dominant 11 9.8 MYO15A MYO7A
10 deafness, autosomal dominant 6 9.8 GJB2 MYO7A
11 deafness, autosomal dominant 48 9.8 MYO15A MYO7A
12 deafness, autosomal recessive 85 9.7 MYO15A MYO7A
13 deafness, autosomal recessive 83 9.7 MYO15A MYO7A
14 deafness, autosomal dominant 22 9.7 MYO15A MYO7A
15 deafness, autosomal recessive 63 9.7 GJB2 MYO7A
16 deafness, autosomal recessive 37 9.7 MYO15A MYO7A
17 deafness, autosomal dominant 17 9.7 MYO15A MYO7A
18 autosomal dominant non-syndromic sensorineural deafness type dfna 9.7 GJB2 MYO7A
19 deafness, autosomal recessive 12 9.7 GJB2 MYO7A
20 deafness, autosomal dominant 13 9.7 GJB2 MYO7A
21 inner ear disease 9.6 GJB2 MYO7A
22 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 GJB2 MYO7A
23 autosomal dominant nonsyndromic deafness 9.5 GJB2 MYO7A
24 deafness, autosomal recessive 2 9.4 GJB2 MYO15A MYO7A
25 deafness, autosomal recessive 30 9.4 GJB2 MYO15A MYO7A
26 auditory system disease 9.4 GJB2 MYO15A MYO7A
27 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.4 GJB2 MYO15A MYO7A
28 sensorineural hearing loss 9.4 GJB2 MYO15A MYO7A
29 nonsyndromic deafness 9.4 GJB2 MYO15A MYO7A
30 usher syndrome 9.4 GJB2 MYO7A

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



Diseases related to Deafness, Autosomal Recessive 3

Symptoms & Phenotypes for Deafness, Autosomal Recessive 3

Symptoms via clinical synopsis from OMIM:

53
Ears:
profound, congenital, neurosensory, nonsyndromal deafness


Clinical features from OMIM:

600316

Human phenotypes related to Deafness, Autosomal Recessive 3:

31
# Description HPO Frequency HPO Source Accession
1 profound sensorineural hearing impairment 31 HP:0011476

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 3:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.13 GJB2 MYO15A MYO7A
2 vision/eye MP:0005391 8.8 GJB2 MYO15A MYO7A

Drugs & Therapeutics for Deafness, Autosomal Recessive 3

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 3

Genetic Tests for Deafness, Autosomal Recessive 3

Genetic tests related to Deafness, Autosomal Recessive 3:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 3 28 MYO15A

Anatomical Context for Deafness, Autosomal Recessive 3

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

38
Brain

Publications for Deafness, Autosomal Recessive 3

Articles related to Deafness, Autosomal Recessive 3:

# Title Authors Year
1
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. ( 27375115 )
2016
2
Screening of the DFNB3 locus: identification of three novel mutations of MYO15A associated with hearing loss and further suggestion for two distinctive genes on this locus. ( 19309289 )
2009
3
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. ( 19274735 )
2009
4
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. ( 17853461 )
2007
5
DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation. ( 12408074 )
2002
6
Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2. ( 10552926 )
1999
7
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. ( 9603736 )
1998
8
A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. ( 7704031 )
1995

Variations for Deafness, Autosomal Recessive 3

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

71
# 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)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO15A NM_016239.3(MYO15A): c.8714-1G> A single nucleotide variant Pathogenic rs377015931 GRCh37 Chromosome 17, 18060469: 18060469
2 MYO15A NM_016239.3(MYO15A): c.3311dupG (p.Glu1105Terfs) duplication Pathogenic rs794729637 GRCh38 Chromosome 17, 18122111: 18122111
3 MYO15A MYO15A, 1-BP DEL, 10573A deletion Pathogenic
4 MYO15A NM_016239.3(MYO15A): c.6337A> T (p.Ile2113Phe) single nucleotide variant Pathogenic rs121908965 GRCh37 Chromosome 17, 18049249: 18049249
5 MYO15A NM_016239.3(MYO15A): c.6331A> T (p.Asn2111Tyr) single nucleotide variant Pathogenic rs121908966 GRCh37 Chromosome 17, 18049243: 18049243
6 MYO15A NM_016239.3(MYO15A): c.7801A> T (p.Lys2601Ter) single nucleotide variant Pathogenic rs121908967 GRCh37 Chromosome 17, 18055173: 18055173
7 MYO15A NM_016239.3(MYO15A): c.3685C> T (p.Gln1229Ter) single nucleotide variant Pathogenic rs121908968 GRCh37 Chromosome 17, 18027872: 18027872
8 MYO15A MYO15A, IVS4DS, G-T, +1 single nucleotide variant Pathogenic
9 MYO15A NM_016239.3(MYO15A): c.8148G> T (p.Gln2716His) single nucleotide variant Pathogenic rs121908969 GRCh37 Chromosome 17, 18057504: 18057504
10 MYO15A NM_016239.3(MYO15A): c.3313G> T (p.Glu1105Ter) single nucleotide variant Pathogenic rs121908971 GRCh37 Chromosome 17, 18025427: 18025427
11 MYO15A MYO15A, 1-BP DEL, 3334G deletion Pathogenic
12 MYO15A NM_016239.3(MYO15A): c.5492G> T (p.Gly1831Val) single nucleotide variant Pathogenic rs121908972 GRCh37 Chromosome 17, 18044418: 18044418
13 MYO15A MYO15A, IVS50AS, G-C, -1 single nucleotide variant Pathogenic
14 MYO15A MYO15A, 4-BP DEL, 9957TGAC deletion Pathogenic
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.5335delC (p.Leu1779Trpfs) deletion Pathogenic rs878854413 GRCh38 Chromosome 17, 18140640: 18140640
22 MYO15A NM_016239.3(MYO15A): c.742C> G (p.Arg248Gly) single nucleotide variant Pathogenic rs878854409 GRCh37 Chromosome 17, 18022856: 18022856
23 MYO15A NM_016239.3(MYO15A): c.3944G> A (p.Gly1315Glu) single nucleotide variant Pathogenic rs878854410 GRCh37 Chromosome 17, 18030391: 18030391
24 MYO15A NM_016239.3(MYO15A): c.4108C> T (p.Arg1370Cys) single nucleotide variant Pathogenic rs878854411 GRCh37 Chromosome 17, 18034622: 18034622
25 MYO15A NM_016239.3(MYO15A): c.4780G> C (p.Asp1594His) single nucleotide variant Pathogenic rs878854412 GRCh37 Chromosome 17, 18040898: 18040898
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 rs780170125 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11 MYO15A MYO7A

GO Terms for Deafness, Autosomal Recessive 3

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

# Name GO ID Score Top Affiliating Genes
1 myosin complex GO:0016459 8.96 MYO15A MYO7A
2 stereocilium GO:0032420 8.62 MYO15A MYO7A

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

# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.16 MYO15A MYO7A
2 inner ear development GO:0048839 8.96 GJB2 MYO7A
3 sensory perception of sound GO:0007605 8.8 GJB2 MYO15A MYO7A

Molecular functions related to Deafness, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.16 MYO15A MYO7A
2 calmodulin binding GO:0005516 8.96 MYO15A MYO7A
3 motor activity GO:0003774 8.62 MYO15A MYO7A

Sources for Deafness, Autosomal Recessive 3

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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