MCID: ATS336
MIFTS: 34

Autosomal Recessive Nonsyndromic Deafness 3

Categories: Ear diseases, Neuronal diseases, Genetic diseases, Fetal diseases, Blood diseases, Rare diseases, Cardiovascular 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 73
Dfnb3 12
Nrsd3 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110488
ICD10 33 H90.3
UMLS 73 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 Integrin 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 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Nonsyndromic Deafness
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 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 3 32.1 GJB2 MYO15A MYO7A
2 nonsyndromic deafness 23.9 CDH23 GJB2 MYH14 MYH9 MYO15A MYO1A
3 deafness, autosomal recessive 21 10.6 GJB2 TECTA
4 deafness, autosomal dominant 1 10.6 MYO1A MYO3A
5 deafness, autosomal recessive 1a 10.6 GJB2 OTOF
6 deafness, autosomal recessive 77 10.6 MYO3A PJVK
7 deafness, autosomal dominant 36 10.5 GJB2 SLC26A4
8 hodgkin's lymphoma, nodular sclerosis 10.4 GJB2 MYO15A SLC26A4
9 deafness, autosomal recessive 59 10.4 GJB2 OTOF PJVK
10 auditory neuropathy, autosomal dominant, 1 10.4 GJB2 OTOF PJVK
11 vestibular disease 10.3 GJB2 SLC26A4
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
13 ear malformation 10.2 GJB2 SLC26A4
14 deafness, autosomal dominant 11 10.2 MYO15A MYO6 MYO7A
15 usher syndrome, type ig 10.2 CDH23 MYO7A
16 deafness, autosomal recessive 67 10.2 GJB2 PJVK
17 retinitis pigmentosa-deafness syndrome 10.1 CDH23 MYO7A
18 deafness, autosomal recessive 6 10.1 GJB2 MYO7A
19 dfnb1 10.1 GJB2 MYO7A OTOF
20 usher syndrome, type if 10.1 CDH23 MYO7A
21 auditory neuropathy spectrum disorder 10.1 MYO7A OTOF PJVK
22 deafness, autosomal recessive 9 10.0 GJB2 OTOF PJVK TECTA
23 usher syndrome, type ic 10.0 CDH23 MYO7A
24 usher syndrome, type id 10.0 CDH23 MYO7A
25 deafness, autosomal recessive 12 9.9 CDH23 GJB2 MYO7A
26 deafness, autosomal recessive 9.8 GJB2 MYO3A MYO6 OTOF PJVK
27 usher syndrome 9.7 CDH23 GJB2 MYO7A
28 deafness, autosomal recessive 16 9.7 GJB2 MYO7A OTOF SLC26A4
29 deafness, autosomal dominant 13 9.7 GJB2 MYO7A OTOF SLC26A4
30 autosomal recessive nonsyndromic deafness 9.6 CDH23 GJB2 MYO15A OTOF SLC26A4
31 deafness, autosomal recessive 23 9.5 CDH23 GJB2 MYO7A SLC26A4
32 deafness, autosomal recessive 26 9.5 CDH23 GJB2 OTOF SLC26A4 TECTA
33 usher syndrome, type iid 9.4 CDH23 MYO7A
34 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.2 CDH23 GJB2 MYO7A OTOF SLC26A4
35 deafness, autosomal recessive 2 9.0 GJB2 MYO15A MYO1A MYO6 MYO7A OTOF
36 deafness, autosomal recessive 85 8.9 CDH23 MYO15A MYO7A OTOF PJVK SLC26A4
37 deafness, autosomal recessive 83 8.9 CDH23 MYO15A MYO7A OTOF PJVK SLC26A4
38 trehalase deficiency 8.9 CDH23 GJB2 MYO15A MYO7A PMP22
39 deafness, autosomal dominant 6 8.8 CDH23 GJB2 MYH14 MYO7A OTOF SLC26A4
40 non-syndromic genetic deafness 8.6 GJB2 MYH9 MYO15A MYO6 OTOF PJVK
41 inner ear disease 8.6 CDH23 GJB2 MYH9 MYO7A SLC26A4
42 deafness, autosomal dominant 17 8.3 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
43 deafness, autosomal dominant 22 8.3 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
44 deafness, autosomal recessive 37 8.3 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
45 deafness, autosomal dominant 48 8.3 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
46 autosomal dominant non-syndromic sensorineural deafness type dfna 8.2 GJB2 MYH14 MYH9 MYO1A MYO6 MYO7A
47 sensorineural hearing loss 7.7 CDH23 GJB2 MYH9 MYO15A MYO6 MYO7A
48 auditory system disease 7.7 CDH23 GJB2 MYH9 MYO15A MYO7A OTOF
49 deafness, autosomal recessive 30 7.6 GJB2 MYH14 MYH9 MYO15A MYO1A MYO3A
50 autosomal dominant nonsyndromic deafness 7.5 GJB2 MYH14 MYH9 MYO1A MYO6 MYO7A

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 10.07 MYO6 MYO7A OTOF PJVK PMP22 SLC26A4
2 behavior/neurological MP:0005386 10.02 SLC26A4 TECTA CDH23 MYO15A MYO3A MYO6
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

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
13.55 CDH23 MYH14 MYH15 MYH9 MYO15A MYO1A
2
Show member pathways
13.14 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
3
Show member pathways
13.03 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
4
Show member pathways
12.81 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
5
Show member pathways
12.64 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
6
Show member pathways
12.59 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
7
Show member pathways
11.94 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
8 11.86 MYH14 MYH15 MYH9
9 10.77 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A

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 9.54 MYH14 MYH9 MYO1A
4 actomyosin GO:0042641 9.43 MYH14 MYH9
5 filamentous actin GO:0031941 9.43 MYO1A MYO3A MYO6
6 myosin II complex GO:0016460 9.32 MYH14 MYH9
7 stereocilium GO:0032420 9.26 CDH23 MYO15A MYO3A MYO7A
8 myosin complex GO:0016459 9.23 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
9 myosin II filament GO:0097513 9.16 MYH14 MYH9

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

# Name GO ID Score Top Affiliating Genes
1 microtubule-based movement GO:0007018 9.56 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
2 actin filament-based movement GO:0030048 9.46 MYH14 MYH9 MYO6 MYO7A
3 actomyosin structure organization GO:0031032 9.4 MYH14 MYH9
4 sensory perception of sound GO:0007605 9.4 CDH23 GJB2 MYH14 MYO15A MYO1A MYO3A
5 inner ear receptor cell stereocilium organization GO:0060122 9.37 CDH23 MYO7A
6 sensory perception of light stimulus GO:0050953 9.32 CDH23 MYO7A
7 equilibrioception GO:0050957 9.26 CDH23 MYO7A

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.92 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
2 actin filament binding GO:0051015 9.88 MYH14 MYH15 MYH9 MYO1A MYO6 MYO7A
3 microtubule binding GO:0008017 9.86 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
4 nucleotide binding GO:0000166 9.8 MYH14 MYH9 MYO3A MYO7A
5 calmodulin binding GO:0005516 9.76 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
6 ADP binding GO:0043531 9.73 MYH9 MYO3A MYO6 MYO7A
7 actin-dependent ATPase activity GO:0030898 9.67 MYH14 MYH9 MYO3A MYO7A
8 microfilament motor activity GO:0000146 9.63 MYH9 MYO3A MYO7A
9 microtubule motor activity GO:0003777 9.56 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
10 motor activity GO:0003774 9.23 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
11 ATP binding GO:0005524 10.08 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A

Sources for Autosomal Recessive Nonsyndromic Deafness 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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