MCID: ATS336
MIFTS: 38

Autosomal Recessive Nonsyndromic Deafness 3

Categories: Genetic diseases, Rare diseases, Ear diseases, Fetal diseases, Cardiovascular diseases, Blood diseases, Neuronal 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 14
Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3 12
Deafness, Autosomal Recessive 3 69
Dfnb3 12
Nrsd3 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110488
ICD10 32 H90.3
UMLS 69 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 ERK Signaling and PAK Pathway. Related phenotypes are hearing/vestibular/ear and behavior/neurological

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 3 32.6 GJB2 MYO15A MYO7A
2 nonsyndromic deafness 25.9 CDH23 GJB2 MYH14 MYH9 MYO15A MYO1A
3 deafness, autosomal recessive 21 10.4 GJB2 TECTA
4 deafness, autosomal dominant 1 10.4 MYO1A MYO3A
5 deafness, autosomal dominant 36 10.3 GJB2 SLC26A4
6 hodgkin's lymphoma, nodular sclerosis 10.2 GJB2 MYO15A SLC26A4
7 vestibular disease 10.2 GJB2 SLC26A4
8 deafness, autosomal recessive 9 10.2 GJB2 OTOF TECTA
9 branchiootic syndrome 1 10.2
10 usher syndrome, type ig 10.2 CDH23 MYO7A
11 usher syndrome, type if 10.1 CDH23 MYO7A
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
13 dfnb1 10.1 GJB2 MYO7A OTOF
14 ear malformation 10.1 GJB2 SLC26A4
15 deafness, autosomal recessive 6 10.1 GJB2 MYO7A
16 usher syndrome, type ic 10.1 CDH23 MYO7A
17 usher syndrome, type id 10.0 CDH23 MYO7A
18 deafness, autosomal dominant 11 10.0 MYO15A MYO1A MYO6 MYO7A
19 auditory neuropathy spectrum disorder 10.0 OTOF PJVK
20 deafness, autosomal recessive 77 10.0 MYO3A PJVK
21 usher syndrome 9.9 CDH23 GJB2 MYO7A
22 deafness, autosomal recessive 16 9.9 GJB2 MYO7A OTOF SLC26A4
23 deafness, autosomal dominant 13 9.9 GJB2 MYO7A OTOF SLC26A4
24 deafness, autosomal recessive 59 9.8 GJB2 OTOF PJVK
25 auditory neuropathy, autosomal dominant, 1 9.8 GJB2 OTOF PJVK
26 deafness, autosomal recessive 23 9.8 CDH23 GJB2 MYO7A SLC26A4
27 deafness, autosomal recessive 12 9.8 CDH23 GJB2 MYO7A SLC26A4
28 autosomal recessive nonsyndromic deafness 9.8 CDH23 GJB2 MYO15A OTOF SLC26A4
29 deafness, autosomal recessive 26 9.7 CDH23 GJB2 OTOF SLC26A4 TECTA
30 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 CDH23 GJB2 MYO7A OTOF SLC26A4
31 deafness, autosomal recessive 67 9.6 GJB2 PJVK
32 deafness, autosomal recessive 2 9.4 GJB2 MYO15A MYO1A MYO6 MYO7A OTOF
33 deafness, autosomal dominant 6 9.4 CDH23 GJB2 MYH14 MYO7A OTOF SLC26A4
34 non-syndromic genetic deafness 9.3 GJB2 MYO15A MYO6 OTOF PJVK TECTA
35 inner ear disease 9.3 CDH23 GJB2 MYH9 MYO7A SLC26A4
36 deafness, autosomal dominant 22 9.1 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
37 deafness, autosomal recessive 37 9.1 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
38 deafness, autosomal dominant 48 9.1 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
39 deafness, autosomal dominant 17 9.1 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
40 deafness, autosomal recessive 9.1 CDH23 GJB2 MYO6 OTOF PJVK SLC26A4
41 autosomal dominant non-syndromic sensorineural deafness type dfna 9.1 GJB2 MYH14 MYH9 MYO1A MYO6 MYO7A
42 deafness, autosomal recessive 85 9.0 CDH23 MYO15A MYO7A OTOF PJVK SLC26A4
43 deafness, autosomal recessive 83 9.0 CDH23 MYO15A MYO7A OTOF PJVK SLC26A4
44 sensorineural hearing loss 8.8 CDH23 GJB2 MYH9 MYO15A MYO6 MYO7A
45 auditory system disease 8.8 CDH23 GJB2 MYH9 MYO15A MYO7A OTOF
46 deafness, autosomal recessive 30 8.7 GJB2 MYH14 MYH9 MYO15A MYO1A MYO3A
47 autosomal dominant nonsyndromic deafness 8.3 GJB2 MYH14 MYH9 MYO1A MYO6 MYO7A
48 autosomal recessive non-syndromic sensorineural deafness type dfnb 7.8 CDH23 GJB2 MYH9 MYO15A MYO3A MYO6

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 10.07 CDH23 GJB2 MYH9 MYO15A MYO1A MYO3A
2 behavior/neurological MP:0005386 10.02 MYO15A MYO3A MYO6 MYO7A OTOF PJVK
3 nervous system MP:0003631 9.97 CDH23 GJB2 MYH14 MYH9 MYO15A MYO3A
4 no phenotypic analysis MP:0003012 9.43 GJB2 MYH14 MYH9 MYO7A OTOF TECTA
5 vision/eye MP:0005391 9.17 CDH23 GJB2 MYH9 MYO15A MYO6 MYO7A

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:

# 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 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

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 cell cortex GO:0005938 9.63 MYH9 MYO6 MYO7A
2 microvillus GO:0005902 9.58 MYO1A MYO6 MYO7A
3 brush border GO:0005903 9.5 MYH14 MYH9 MYO1A
4 actomyosin GO:0042641 9.43 MYH14 MYH9
5 myosin II complex GO:0016460 9.37 MYH14 MYH9
6 filamentous actin GO:0031941 9.33 MYO1A MYO3A MYO6
7 myosin II filament GO:0097513 9.26 MYH14 MYH9
8 stereocilium GO:0032420 9.26 CDH23 MYO15A MYO3A MYO7A
9 myosin complex GO:0016459 9.23 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A

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

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.4 CDH23 GJB2 MYH14 MYO15A MYO1A MYO3A
2 actomyosin structure organization GO:0031032 9.37 MYH14 MYH9
3 inner ear receptor cell stereocilium organization GO:0060122 9.32 CDH23 MYO7A
4 sensory perception of light stimulus GO:0050953 9.26 CDH23 MYO7A
5 actin filament-based movement GO:0030048 9.26 MYH14 MYH9 MYO6 MYO7A
6 equilibrioception GO:0050957 9.16 CDH23 MYO7A

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.85 MYH14 MYH15 MYH9 MYO1A MYO6 MYO7A
2 nucleotide binding GO:0000166 9.76 MYH14 MYH9 MYO3A MYO7A
3 actin binding GO:0003779 9.76 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
4 ADP binding GO:0043531 9.71 MYH9 MYO3A MYO6 MYO7A
5 microfilament motor activity GO:0000146 9.62 MYH14 MYH9 MYO3A MYO7A
6 actin-dependent ATPase activity GO:0030898 9.56 MYH14 MYH9 MYO3A MYO7A
7 calmodulin binding GO:0005516 9.56 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
8 motor activity GO:0003774 9.23 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
9 ATP binding GO:0005524 10.03 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A

Sources for Autosomal Recessive Nonsyndromic Deafness 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
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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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