MCID: ATS336
MIFTS: 31

Autosomal Recessive Nonsyndromic Deafness 3

Categories: Ear diseases, Neuronal diseases, Genetic diseases, Rare diseases, Blood diseases, Fetal 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 14
Dfnb3 12 52
Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3 12
Deafness, Autosomal Recessive 3 69
Nrsd3 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110488
ICD10 33 H90.3

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 dfnb3, is related to deafness, autosomal recessive 3 and dfnb 3 nonsyndromic hearing loss and 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 Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Dominant 70 Deafness, Autosomal Recessive 42
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 6/14/38 Deafness, Autosomal Recessive 25
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 24
Deafness, Autosomal Recessive 49 Deafness, Autosomal Dominant 1
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 104 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 10
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 39
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness Autosomal Recessive 106
Deafness, Autosomal Recessive 18b Deafness, Autosomal Dominant 59
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 8/12
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 102 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Recessive 107
Deafness, Autosomal Dominant 20/26 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 4a
Deafness, Autosomal Dominant 67 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 29 Deafness, Autosomal Recessive 8/10
Deafness, Autosomal Recessive 98 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 28
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
Otof-Related Deafness

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

(show all 45)
id Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 3 10.8
2 dfnb 3 nonsyndromic hearing loss and deafness 10.8
3 pigmented nodular adrenocortical disease, primary, 2 10.6 GJB2 OTOF
4 seizures, cortical blindness, microcephaly syndrome 10.5 MYO1A MYO3A
5 developmental dysplasia of the hip 1 10.5 GJB2 OTOF
6 anal canal carcinoma 10.5 GJB2 TECTA
7 robinow syndrome, autosomal dominant 1 10.5 GJB2 MYO7A
8 cataract 26, multiple types 10.4 GJB2 SLC26A4
9 diabetes persistent mullerian ducts 10.4 GJB2 MYO7A OTOF
10 orofacial cleft 10.4 GJB2 MYO15A OTOF
11 amelogenesis imperfecta, type ig 10.4 CDH23 MYO7A
12 fascioliasis 10.3 GJB2 MYO15A SLC26A4
13 deafness, autosomal recessive 12 10.3 CDH23 MYO7A
14 deafness, autosomal recessive 9 10.2 GJB2 OTOF TECTA
15 preterm premature rupture of the membranes 10.2 MYO15A MYO1A MYO6 MYO7A
16 viral laryngitis 10.2 GJB2 SLC26A4
17 retinitis pigmentosa 61 10.2 CDH23 MYO7A
18 brugada syndrome 10.1 CDH23 GJB2 MYO7A
19 deafness, autosomal recessive 18a 10.1 CDH23 MYO7A
20 microcephaly and chorioretinopathy, autosomal recessive, 3 10.0 GJB2 MYO7A OTOF SLC26A4
21 x-linked nonsyndromic deafness 10.0 MYH14 MYO6 MYO7A TECTA
22 deafness, autosomal recessive 53 10.0 GJB2 MYO7A OTOF SLC26A4
23 asthma-related traits 8 9.9 CDH23 MYO7A
24 hyperphenylalaninemia, mild, non-bh4-deficient 9.9 CDH23 GJB2 MYO7A SLC26A4
25 nonsyndromic deafness 9.9
26 pituitary adenoma 9.8 CDH23 GJB2 MYO7A SLC26A4
27 nonsyndromic hydrocephalus, ccdc88c-related 9.8 GJB2 MYO15A MYO6 OTOF TECTA
28 bifid nose with or without anorectal and renal anomalies 9.6 CDH23 MYO15A MYO7A OTOF SLC26A4
29 ectodermal dysplasia 6, hair/nail type 9.6 CDH23 MYO15A MYO7A OTOF SLC26A4
30 dihydrolipoamide dehydrogenase deficiency 9.6 CDH23 GJB2 MYO7A OTOF SLC26A4
31 leber congenital amaurosis 14 9.5 CDH23 GJB2 OTOF SLC26A4 TECTA
32 deafness, autosomal dominant 11 9.4 GJB2 MYO15A MYO1A MYO6 MYO7A OTOF
33 mixed lacrimal gland cancer 9.3 CDH23 GJB2 MYH9 MYO7A SLC26A4
34 congenital muscular dystrophy due to lmna mutation 9.2 CDH23 GJB2 MYH14 MYO7A OTOF SLC26A4
35 deafness, autosomal recessive 37 9.0 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
36 ullrich congenital muscular dystrophy 2 9.0 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
37 fundus albipunctatus 9.0 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
38 macrothrombocytopenia and progressive sensorineural deafness 9.0 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
39 nodular lichen myxedematosus 8.9 GJB2 MYH14 MYH9 MYO1A MYO6 MYO7A
40 endometritis 8.5 CDH23 GJB2 MYH9 MYO15A MYO6 MYO7A
41 narcissistic personality disorder 8.4 CDH23 GJB2 MYH9 MYO15A MYO7A OTOF
42 severe combined immunodeficiency, athabascan type 8.3 GJB2 MYH14 MYH9 MYO15A MYO1A MYO3A
43 discrete papular lichen myxedematosus 7.8 CDH23 GJB2 MYH9 MYO15A MYO3A MYO6
44 autosomal recessive nonsyndromic deafness 7.5 CDH23 GJB2 MYH14 MYH9 MYO15A MYO3A
45 autosomal recessive nonsyndromic deafness 8 5.0 CDH23 GJB2 MYH14 MYH15 MYH9 MYO15A

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 10.03 CDH23 GJB2 MYH9 MYO15A MYO1A MYO3A
2 behavior/neurological MP:0005386 9.97 CDH23 MYO15A MYO3A MYO6 MYO7A OTOF
3 nervous system MP:0003631 9.93 GJB2 MYH14 MYH9 MYO15A MYO3A MYO6
4 no phenotypic analysis MP:0003012 9.43 MYH14 MYH9 MYO7A OTOF TECTA GJB2
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

GO Terms for Autosomal Recessive Nonsyndromic Deafness 3

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

id 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 stereocilium GO:0032420 9.33 CDH23 MYO15A MYO7A
6 myosin II complex GO:0016460 9.32 MYH14 MYH9
7 myosin II filament GO:0097513 9.26 MYH14 MYH9
8 myosin complex GO:0016459 9.23 MYH14 MYH15 MYH9 MYO15A MYO1A MYO3A
9 filamentous actin GO:0031941 9.13 MYO1A MYO3A MYO6

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

id Name GO ID Score Top Affiliating Genes
1 actomyosin structure organization GO:0031032 9.37 MYH14 MYH9
2 sensory perception of sound GO:0007605 9.36 CDH23 GJB2 MYH14 MYO15A MYO1A MYO3A
3 inner ear receptor 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:

id Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.8 MYH14 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 9.67 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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