MCID: ATS336
MIFTS: 34

Autosomal Recessive Nonsyndromic Deafness 3

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 74
Dfnb3 12
Nrsd3 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110488
ICD10 34 H90.3
UMLS 74 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 deafness, autosomal recessive 21. 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 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 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 32 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 all 50)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 3 33.1 GJB2 MYO15A MYO7A
2 deafness, autosomal recessive 21 30.6 GJB2 TECTA
3 nonsyndromic deafness 27.3 CDH23 GJB2 MYH14 MYH9 MYO15A MYO1A
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
5 deafness, autosomal dominant 1 10.4 MYO1A MYO3A
6 deafness, autosomal recessive 77 10.3 MYO3A PJVK
7 deafness, autosomal recessive 1a 10.3 GJB2 OTOF
8 deafness, autosomal dominant 36 10.2 GJB2 SLC26A4
9 deafness, autosomal recessive 6 10.2 GJB2 MYO7A
10 deafness, autosomal recessive 59 10.2 GJB2 OTOF PJVK
11 auditory neuropathy, autosomal dominant, 1 10.2 GJB2 OTOF PJVK
12 deafness, autosomal dominant 11 10.2 MYO15A MYO6 MYO7A
13 hodgkin's lymphoma, nodular sclerosis 10.2 GJB2 MYO15A SLC26A4
14 vestibular disease 10.2 GJB2 SLC26A4
15 dfnb1 10.1 GJB2 MYO7A OTOF
16 deafness, autosomal recessive 67 10.1 GJB2 PJVK
17 ear malformation 10.1 GJB2 SLC26A4
18 auditory neuropathy spectrum disorder 10.1 MYO7A OTOF PJVK
19 retinitis pigmentosa-deafness syndrome 10.1 CDH23 MYO7A
20 usher syndrome, type ig 10.0 CDH23 MYO7A
21 usher syndrome, type if 10.0 CDH23 MYO7A
22 deafness, autosomal recessive 9 10.0 GJB2 OTOF PJVK TECTA
23 usher syndrome, type id 10.0 CDH23 MYO7A
24 deafness, autosomal recessive 16 10.0 GJB2 MYO7A OTOF SLC26A4
25 deafness, autosomal dominant 13 10.0 GJB2 MYO7A OTOF SLC26A4
26 usher syndrome, type ic 9.9 CDH23 MYO15A MYO7A
27 deafness, autosomal recessive 12 9.9 CDH23 GJB2 MYO7A
28 usher syndrome 9.9 CDH23 GJB2 MYO7A
29 drug-induced hearing loss 9.9 GJB2 SLC26A4
30 autosomal dominant nonsyndromic deafness 9.9 MYH14 MYO6 MYO7A TECTA
31 usher syndrome, type iid 9.8 CDH23 MYO7A
32 deafness, autosomal recessive 23 9.8 CDH23 GJB2 MYO7A SLC26A4
33 autosomal recessive nonsyndromic deafness 9.7 CDH23 GJB2 MYO15A OTOF SLC26A4
34 deafness, autosomal recessive 26 9.6 CDH23 GJB2 OTOF SLC26A4 TECTA
35 deafness, autosomal recessive 2 9.6 GJB2 MYO15A MYO1A MYO6 MYO7A OTOF
36 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 CDH23 GJB2 MYO7A OTOF SLC26A4
37 inner ear disease 9.5 CDH23 GJB2 MYH9 MYO7A SLC26A4
38 non-syndromic genetic deafness 9.5 GJB2 MYH9 MYO15A MYO6 OTOF PJVK
39 deafness, autosomal recessive 85 9.4 CDH23 MYO15A MYO7A OTOF PJVK SLC26A4
40 deafness, autosomal recessive 83 9.4 CDH23 MYO15A MYO7A OTOF PJVK SLC26A4
41 deafness, autosomal dominant 17 9.4 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
42 deafness, autosomal dominant 22 9.4 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
43 deafness, autosomal recessive 37 9.4 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
44 deafness, autosomal dominant 48 9.4 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
45 deafness, autosomal dominant 6 9.3 CDH23 GJB2 MYH14 MYO7A OTOF SLC26A4
46 branchiootic syndrome 1 9.3 CDH23 GJB2 MYO7A OTOF PJVK SLC26A4
47 deafness, autosomal recessive 30 9.0 GJB2 MYH14 MYH9 MYO15A MYO1A MYO3A
48 auditory system disease 8.8 CDH23 GJB2 MYH9 MYO15A MYO7A OTOF
49 sensorineural hearing loss 8.6 CDH23 GJB2 MYH14 MYH9 MYO15A MYO6
50 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.5 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:

47
# 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 CDH23 MYO15A MYO3A MYO6 MYO7A OTOF
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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 CDH23 MYH14 MYH15 MYH9 MYO15A MYO1A
2
Show member pathways
13.2 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
3
Show member pathways
13.1 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
4
Show member pathways
12.89 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
5
Show member pathways
12.8 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
6
Show member pathways
12.71 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
7
Show member pathways
12.14 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
8
Show member pathways
11.96 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
9 11.9 MYH14 MYH15 MYH9
10 11.1 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
11 10.37 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 9.33 MYO1A MYO3A MYO6
6 myosin II complex GO:0016460 9.32 MYH14 MYH9
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
10 extracellular exosome GO:0070062 10.02 MYH14 MYH9 MYO15A MYO6 SLC26A4 TECTA

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....