DFNB3
MCID: ATS336
MIFTS: 30

Autosomal Recessive Nonsyndromic Deafness 3 (DFNB3)

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

Aliases & Classifications for Autosomal Recessive Nonsyndromic Deafness 3

MalaCards integrated aliases for Autosomal Recessive Nonsyndromic Deafness 3:

Name: Autosomal Recessive Nonsyndromic Deafness 3 12 15
Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3 12
Deafness, Autosomal Recessive 3 71
Dfnb3 12
Nrsd3 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110488
ICD10 32 H90.3
UMLS 71 C1838263

Summaries for Autosomal Recessive Nonsyndromic Deafness 3

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the MYO15A gene on chromosome 17p11.

MalaCards based summary : Autosomal Recessive Nonsyndromic Deafness 3, also known as autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3, is related to deafness, autosomal recessive 3 and nonsyndromic deafness. An important gene associated with Autosomal Recessive Nonsyndromic Deafness 3 is MYO15A (Myosin XVA), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and RhoGDI Pathway. Related phenotypes are behavior/neurological and hearing/vestibular/ear

Related Diseases for Autosomal Recessive Nonsyndromic Deafness 3

Diseases in the Rare 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 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 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 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
Deafness, Autosomal Dominant 75 Deafness, Autosomal Dominant 76
Deafness, Autosomal Dominant 77 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 32
Autosomal Recessive Nonsyndromic Deafness 36 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

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

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 3 33.3 MYO7A MYO15A GJB2
2 nonsyndromic deafness 30.8 MYO15A LRTOMT GJB2
3 deafness, autosomal recessive 21 29.9 TECTA PJVK MYO15A GJB2
4 branchiootic syndrome 1 28.3 WHRN TMC1 TECTA SLC26A4 PJVK OTOF
5 nonsyndromic hearing loss 27.5 TMC1 TECTA SLC26A4 PJVK OTOF MYO7A
6 sensorineural hearing loss 26.6 WHRN TPRN TMC1 TECTA SLC26A4 OTOF
7 autosomal recessive nonsyndromic deafness 26.0 WHRN TPRN TMC1 TECTA SLC26A4 PJVK
8 autosomal recessive non-syndromic sensorineural deafness type dfnb 25.1 WHRN TPRN TMC1 TECTA SLC26A4 PJVK
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.6
10 y-linked deafness 10.3 TMC1 OTOF
11 usher syndrome, type iiib 10.3 WHRN MYO7A
12 retinitis pigmentosa-deafness syndrome 10.3 WHRN CDH23
13 deafness, autosomal recessive 27 10.3 TMC1 PJVK
14 deafness, autosomal recessive 25 10.3 PJVK MYO15A
15 deafness, autosomal recessive 85 10.3 PJVK OTOF
16 deafness, autosomal recessive 59 10.2 PJVK OTOF
17 deafness, autosomal dominant 67 10.2 OTOF GJB2
18 deafness, x-linked 5, with peripheral neuropathy 10.2 PJVK OTOF
19 ear malformation 10.2 SLC26A4 GJB2
20 deafness, autosomal recessive 48 10.2 WHRN TMC1 MYO7A
21 deafness, autosomal dominant 56 10.2 WHRN SLC26A4 GJB2
22 dfnb1 10.2 OTOF MYO7A GJB2
23 acute hemorrhagic leukoencephalitis 10.2 MYO7A CDH23
24 deafness, autosomal recessive 49 10.2 PJVK MYO15A GJB2
25 deafness, autosomal dominant 25 10.2 OTOF MYO7A
26 labyrinthitis 10.2 SLC26A4 MYO7A GJB2
27 drug-induced hearing loss 10.2 SLC26A4 MYO7A GJB2
28 deafness, autosomal recessive 86 10.2 WHRN CDH23
29 deafness, autosomal recessive 18a 10.2 MYO7A MYO15A CDH23
30 usher syndrome, type ih 10.1 WHRN MYO7A CDH23
31 usher syndrome, type ij 10.1 WHRN MYO7A CDH23
32 peripheral vertigo 10.1 SLC26A4 MYO7A GJB2
33 serous labyrinthitis 10.1 SLC26A4 GJB2
34 auditory neuropathy spectrum disorder 10.1 PJVK OTOF MYO7A
35 auditory neuropathy, autosomal dominant, 1 10.1 PJVK OTOF GJB2
36 y-linked monogenic disease 10.1 TMC1 OTOF CDH23
37 branchiootorenal syndrome 10.1 SLC26A4 OTOF GJB2
38 digenic disease 10.1 WHRN MYO7A CDH23
39 deafness, autosomal recessive 26 10.1 TECTA GJB2
40 deafness, autosomal dominant 41 10.1 SLC26A4 GJB2 CDH23
41 deafness, autosomal recessive 62 10.1 MYO6 CDH23
42 deafness, autosomal dominant 31 10.1 TECTA MYO3A
43 deafness, autosomal recessive 67 10.0 PJVK LRTOMT
44 eye degenerative disease 10.0 WHRN MYO7A CDH23
45 deafness, autosomal dominant 9 10.0 MYO7A MYO6 GJB2
46 deafness, autosomal dominant 15 10.0 TMC1 MYO7A MYO6
47 deafness, autosomal recessive 15 10.0 PJVK MYO6 MYO15A
48 deafness, autosomal recessive 6 10.0 TMC1 PJVK LRTOMT
49 deafness, autosomal dominant 7 10.0 TECTA MYO6
50 deafness, autosomal recessive 102 10.0 WHRN MYO15A EPS8

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



Diseases related to Autosomal Recessive Nonsyndromic Deafness 3

Symptoms & Phenotypes for Autosomal Recessive Nonsyndromic Deafness 3

MGI Mouse Phenotypes related to Autosomal Recessive Nonsyndromic Deafness 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 CDH23 EPS8 LRTOMT MYO15A MYO3A MYO6
2 hearing/vestibular/ear MP:0005377 9.83 CDH23 EPS8 GJB2 LRTOMT MYO15A MYO3A
3 nervous system MP:0003631 9.5 CDH23 EPS8 GJB2 LRTOMT MYO15A MYO3A

Drugs & Therapeutics for Autosomal Recessive Nonsyndromic Deafness 3

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

Genetic Tests for Autosomal Recessive Nonsyndromic Deafness 3

Anatomical Context for Autosomal Recessive Nonsyndromic Deafness 3

Publications for Autosomal Recessive Nonsyndromic Deafness 3

Articles related to Autosomal Recessive Nonsyndromic Deafness 3:

(show all 39)
# Title Authors PMID Year
1
Linkage analysis of hearing impairment in families of Bannu Distric. 61
31740869 2019
2
Screening of 10 DFNB Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for GJB2 Mutations. 61
31700827 2019
3
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss. 61
30953472 2019
4
Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness. 61
29482514 2018
5
Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families. 61
28964305 2017
6
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman. 61
27734841 2017
7
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. 61
27375115 2016
8
Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family. 61
27635202 2016
9
Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss. 61
27398341 2016
10
A novel recessive truncating mutation in MYO15A causing prelingual sensorineural hearing loss. 61
26810297 2016
11
Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis. 61
25792667 2015
12
Linkage study of DFNB3 responsible for hearing loss in human. 61
24339546 2013
13
Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population. 61
22736430 2012
14
Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss. 61
22245518 2012
15
Recurrent and private MYO15A mutations are associated with deafness in the Turkish population. 61
20642360 2010
16
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. 61
19274735 2009
17
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. 61
19309289 2009
18
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 61
18348273 2008
19
Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness. 61
17851452 2008
20
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. 61
17853461 2007
21
Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. 61
17546645 2007
22
Age-related changes in cochlear gene expression in normal and shaker 2 mice. 61
16794912 2006
23
Transgene correction maintains normal cochlear structure and function in 6-month-old Myo15a mutant mice. 61
16580798 2006
24
Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle. 61
14610277 2003
25
DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation. 61
12408074 2002
26
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. 61
11735029 2001
27
Dominant modifier DFNM1 suppresses recessive deafness DFNB26. 61
11101839 2000
28
DFNB3 families and Shaker-2 mice: mutations in an unconventional myosin, myo 15. 61
10868225 2000
29
Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2. 61
10552926 1999
30
Unconventional myosins and the genetics of hearing loss. 61
10704189 1999
31
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. 61
10330345 1999
32
A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2). 61
10049592 1999
33
A novel type of myosin encoded by the mouse deafness gene shaker-2. 61
9703981 1998
34
Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. 61
9603735 1998
35
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. 61
9603736 1998
36
Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2. 61
9529344 1998
37
Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. 61
8789457 1996
38
Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village. 61
7616538 1995
39
A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. 61
7704031 1995

Variations for Autosomal Recessive Nonsyndromic Deafness 3

Expression for Autosomal Recessive Nonsyndromic Deafness 3

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

Pathways for Autosomal Recessive Nonsyndromic Deafness 3

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 MYO7A MYO6 MYO3A MYO15A
2
Show member pathways
11.64 MYO7A MYO6 MYO3A MYO15A
3 10.47 MYO7A MYO6 MYO3A MYO15A

GO Terms for Autosomal Recessive Nonsyndromic Deafness 3

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.16 WHRN TMC1 TECTA SLC26A4 OTOF MYO6
2 cell projection GO:0042995 9.87 WHRN TPRN OTOF MYO6 MYO3A MYO15A
3 cell junction GO:0030054 9.83 WHRN OTOF MYO7A GJB2 EPS8
4 vesicle GO:0031982 9.71 MYO7A MYO6 MYO15A EPS8
5 cell cortex GO:0005938 9.65 MYO7A MYO6 EPS8
6 myosin complex GO:0016459 9.46 MYO7A MYO6 MYO3A MYO15A
7 stereocilium bundle GO:0032421 9.43 WHRN MYO15A EPS8
8 stereocilium base GO:0120044 9.37 TPRN MYO7A
9 stereocilium tip GO:0032426 9.26 WHRN TMC1 MYO3A EPS8
10 stereocilium GO:0032420 9.17 WHRN TPRN MYO7A MYO3A MYO15A EPS8

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.69 MYO7A MYO6 MYO15A
2 inner ear morphogenesis GO:0042472 9.54 MYO7A MYO6 MYO15A
3 inner ear receptor cell stereocilium organization GO:0060122 9.5 WHRN MYO7A CDH23
4 actin filament-based movement GO:0030048 9.49 MYO7A MYO6
5 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.48 WHRN TMC1
6 sensory perception of sound GO:0007605 9.47 WHRN TPRN TMC1 TECTA SLC26A4 PJVK
7 inner ear auditory receptor cell differentiation GO:0042491 9.46 MYO7A MYO6
8 auditory receptor cell development GO:0060117 9.43 TMC1 LRTOMT
9 vesicle transport along actin filament GO:0030050 9.43 MYO7A MYO6 MYO15A
10 equilibrioception GO:0050957 9.4 MYO7A CDH23
11 auditory receptor cell stereocilium organization GO:0060088 9.33 WHRN TPRN MYO7A
12 sensory perception of light stimulus GO:0050953 9.13 WHRN MYO7A CDH23

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.72 MYO7A MYO6 MYO3A MYO15A EPS8
2 calmodulin binding GO:0005516 9.67 MYO7A MYO6 MYO3A MYO15A
3 motor activity GO:0003774 9.46 MYO7A MYO6 MYO3A MYO15A
4 ADP binding GO:0043531 9.43 MYO7A MYO6 MYO3A
5 microfilament motor activity GO:0000146 9.26 MYO7A MYO6 MYO3A MYO15A
6 actin-dependent ATPase activity GO:0030898 8.92 MYO7A MYO6 MYO3A MYO15A

Sources for Autosomal Recessive Nonsyndromic Deafness 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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