DFNB3
MCID: DFN201
MIFTS: 37

Deafness, Autosomal Recessive 3 (DFNB3)

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

Aliases & Classifications for Deafness, Autosomal Recessive 3

MalaCards integrated aliases for Deafness, Autosomal Recessive 3:

Name: Deafness, Autosomal Recessive 3 57 29 13 6 70
Dfnb3 57 72 54
Neurosensory Nonsyndromic Recessive Deafness 3 57 72
Nsrd3 57 72
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 3 72
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 3 72
Neurosensory Nonsyndromic Recessive Deafness 3; Nsrd3 57
Deafness Neurosensory Autosomal Recessive 3 72
Deafness, Autosomal Recessive, Type 3 39
Deafness, Autosomal Recessive, 3 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive (17p12-q12)


HPO:

31
deafness, autosomal recessive 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 600316
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
MedGen 41 C1838263
SNOMED-CT via HPO 68 258211005
UMLS 70 C1838263

Summaries for Deafness, Autosomal Recessive 3

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 3: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Recessive 3, also known as dfnb3, is related to autosomal recessive nonsyndromic deafness 3 and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Recessive 3 is MYO15A (Myosin XVA), and among its related pathways/superpathways is Cytoskeleton remodeling_RalA regulation pathway. Related phenotypes are profound sensorineural hearing impairment and hearing/vestibular/ear

More information from OMIM: 600316 PS220290

Related Diseases for Deafness, Autosomal Recessive 3

Diseases in the Rare Deafness family:

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
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Deafness, Autosomal Dominant 80 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 Dominant Nonsyndromic Deafness 78
Autosomal Dominant Nonsyndromic Deafness 79 Autosomal Recessive Nonsyndromic Deafness 116
Autosomal Dominant Nonsyndromic Deafness 74 Autosomal Dominant Nonsyndromic Deafness 75
Autosomal Dominant Nonsyndromic Deafness 76 Autosomal Dominant Nonsyndromic Deafness 77
Nonsyndromic Deafness Otof-Related Deafness
Familial Deafness

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 3 31.2 MYO7A MYO15A GJB2
2 branchiootic syndrome 1 30.2 MYO7A GJB2
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 30.2 MYO7A GJB2
4 deafness, autosomal recessive 21 29.8 MYO15A GJB2
5 nonsyndromic deafness 29.7 MYO7A MYO15A GJB2
6 nonsyndromic hearing loss 29.4 MYO7A MYO15A GJB2
7 autosomal recessive nonsyndromic deafness 29.2 MYO7A MYO15A GJB2
8 rare genetic deafness 29.2 MYO7A MYO15A GJB2
9 sensorineural hearing loss 29.2 MYO7A MYO15A GJB2
10 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.2
11 deafness, autosomal recessive 8 10.0 MYO15A GJB2
12 deafness, autosomal recessive 79 10.0 MYO15A GJB2
13 deafness, autosomal recessive 49 10.0 MYO15A GJB2
14 deafness, autosomal recessive 16 10.0 MYO15A GJB2
15 deafness, autosomal recessive 1b 10.0 MYO15A GJB2
16 deafness, autosomal dominant 36 10.0 MYO15A GJB2
17 deafness, autosomal dominant 48 9.9 MYO7A MYO15A
18 deafness, autosomal recessive 83 9.9 MYO7A MYO15A
19 deafness, autosomal recessive 18a 9.9 MYO7A MYO15A
20 labyrinthitis 9.8 MYO7A GJB2
21 dfnb1 9.8 MYO7A GJB2
22 drug-induced hearing loss 9.8 MYO7A GJB2
23 usher syndrome, type iid 9.8 MYO7A MYO15A
24 otosclerosis 9.8 MYO15A GJB2
25 deafness, autosomal dominant 17 9.8 MYO7A MYO15A
26 usher syndrome, type ic 9.8 MYO7A GJB2
27 deafness, autosomal recessive 37 9.8 MYO7A MYO15A
28 deafness, autosomal recessive 30 9.8 MYO7A MYO15A
29 deafness, autosomal dominant 22 9.8 MYO7A MYO15A
30 deafness, autosomal recessive 63 9.8 MYO7A MYO15A
31 usher syndrome, type if 9.8 MYO7A MYO15A
32 deafness, autosomal dominant 9 9.8 MYO7A GJB2
33 peripheral vertigo 9.8 MYO7A GJB2
34 usher syndrome, type iic 9.8 MYO7A MYO15A
35 meniere disease 9.8 MYO7A GJB2
36 deafness, autosomal recessive 1a 9.8 MYO7A GJB2
37 usher syndrome, type iia 9.7 MYO7A GJB2
38 keratitis, hereditary 9.6 MYO7A GJB2
39 deafness, autosomal recessive 9.6 MYO7A MYO15A GJB2
40 deafness, autosomal dominant 6 9.6 MYO7A MYO15A GJB2
41 deafness, autosomal recessive 7 9.6 MYO7A MYO15A GJB2
42 deafness, autosomal dominant 11 9.6 MYO7A MYO15A GJB2
43 deafness, autosomal dominant 1, with or without thrombocytopenia 9.6 MYO7A MYO15A GJB2
44 vestibular disease 9.6 MYO7A MYO15A GJB2
45 deafness, autosomal recessive 2 9.6 MYO7A MYO15A GJB2
46 deafness, autosomal recessive 23 9.6 MYO7A MYO15A GJB2
47 deafness, autosomal recessive 9 9.6 MYO7A MYO15A GJB2
48 usher syndrome, type i 9.6 MYO7A MYO15A GJB2
49 usher syndrome, type id 9.6 MYO7A MYO15A GJB2
50 usher syndrome 9.6 MYO7A MYO15A GJB2

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



Diseases related to Deafness, Autosomal Recessive 3

Symptoms & Phenotypes for Deafness, Autosomal Recessive 3

Human phenotypes related to Deafness, Autosomal Recessive 3:

31
# Description HPO Frequency HPO Source Accession
1 profound sensorineural hearing impairment 31 HP:0011476

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Ears:
profound, congenital, neurosensory, nonsyndromal deafness

Clinical features from OMIM®:

600316 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.8 GJB2 MYO15A MYO7A

Drugs & Therapeutics for Deafness, Autosomal Recessive 3

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

Genetic Tests for Deafness, Autosomal Recessive 3

Genetic tests related to Deafness, Autosomal Recessive 3:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 3 29 MYO15A

Anatomical Context for Deafness, Autosomal Recessive 3

Publications for Deafness, Autosomal Recessive 3

Articles related to Deafness, Autosomal Recessive 3:

(show top 50) (show all 57)
# Title Authors PMID Year
1
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. 57 6 54 61
9603736 1998
2
A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. 57 61 6
7704031 1995
3
Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness. 57 54 61
17851452 2008
4
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. 6 61 54
17853461 2007
5
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. 61 6 54
11735029 2001
6
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman. 6 61
27734841 2017
7
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. 6 61
27375115 2016
8
Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis. 61 6
25792667 2015
9
Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population. 61 6
22736430 2012
10
Recurrent and private MYO15A mutations are associated with deafness in the Turkish population. 6 61
20642360 2010
11
Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. 61 6
17546645 2007
12
Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. 61 57
9603735 1998
13
Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2. 57 61
9529344 1998
14
Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village. 57 61
7616538 1995
15
Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees. 6
30828794 2019
16
Genetics of hearing loss in the Arab population of Northern Israel. 6
30139988 2018
17
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients. 6
29986705 2018
18
Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil. 6
27870113 2016
19
Effects of genetic correction on the differentiation of hair cell-like cells from iPSCs with MYO15A mutation. 6
26915297 2016
20
Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations. 6
24875298 2014
21
Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing. 6
24105371 2014
22
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. 6
24123792 2013
23
Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing. 6
24206587 2013
24
Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing. 6
23767834 2013
25
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing. 6
23208854 2013
26
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients. 6
23967202 2013
27
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. 6
21917145 2011
28
The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells. 57
10915760 2000
29
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. 61 54
19274735 2009
30
Dominant modifier DFNM1 suppresses recessive deafness DFNB26. 54 61
11101839 2000
31
Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2. 61 54
10552926 1999
32
Unconventional myosins and the genetics of hearing loss. 54 61
10704189 1999
33
Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant. 61
33784549 2021
34
The ATPase mechanism of myosin 15, the molecular motor mutated in DFNB3 human deafness. 61
33428946 2021
35
The ATPase mechanism of myosin 15, the molecular motor mutated in DFNB3 human deafness. 61
33372036 2020
36
[Analysis of MYO15A variation in children with DFNB3]. 61
32987461 2020
37
Linkage analysis of hearing impairment in families of Bannu Distric. 61
31740869 2019
38
Screening of 10 DFNB Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for GJB2 Mutations. 61
31700827 2019
39
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss. 61
30953472 2019
40
Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness. 61
29482514 2018
41
Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families. 61
28964305 2017
42
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
43
Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss. 61
27398341 2016
44
A novel recessive truncating mutation in MYO15A causing prelingual sensorineural hearing loss. 61
26810297 2016
45
Linkage study of DFNB3 responsible for hearing loss in human. 61
24339546 2013
46
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
47
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
48
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 61
18348273 2008
49
Age-related changes in cochlear gene expression in normal and shaker 2 mice. 61
16794912 2006
50
Transgene correction maintains normal cochlear structure and function in 6-month-old Myo15a mutant mice. 61
16580798 2006

Variations for Deafness, Autosomal Recessive 3

ClinVar genetic disease variations for Deafness, Autosomal Recessive 3:

6 (show top 50) (show all 427)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYO15A NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe) SNV Pathogenic 6950 rs121908965 GRCh37: 17:18049249-18049249
GRCh38: 17:18145935-18145935
2 MYO15A NM_016239.4(MYO15A):c.6331A>T (p.Asn2111Tyr) SNV Pathogenic 6951 rs121908966 GRCh37: 17:18049243-18049243
GRCh38: 17:18145929-18145929
3 MYO15A NM_016239.4(MYO15A):c.7801A>T (p.Lys2601Ter) SNV Pathogenic 6952 rs121908967 GRCh37: 17:18055173-18055173
GRCh38: 17:18151859-18151859
4 MYO15A NM_016239.4(MYO15A):c.3685C>T (p.Gln1229Ter) SNV Pathogenic 6953 rs121908968 GRCh37: 17:18027872-18027872
GRCh38: 17:18124558-18124558
5 MYO15A NM_016239.4(MYO15A):c.3756+1G>T SNV Pathogenic 6954 rs748108031 GRCh37: 17:18028546-18028546
GRCh38: 17:18125232-18125232
6 MYO15A NM_016239.4(MYO15A):c.8148G>T (p.Gln2716His) SNV Pathogenic 6955 rs121908969 GRCh37: 17:18057504-18057504
GRCh38: 17:18154190-18154190
7 MYO15A NM_016239.4(MYO15A):c.3313G>T (p.Glu1105Ter) SNV Pathogenic 6957 rs121908971 GRCh37: 17:18025427-18025427
GRCh38: 17:18122113-18122113
8 MYO15A NM_016239.4(MYO15A):c.3336del (p.Arg1113fs) Deletion Pathogenic 6958 rs769884586 GRCh37: 17:18025448-18025448
GRCh38: 17:18122134-18122134
9 MYO15A NM_016239.4(MYO15A):c.5492G>T (p.Gly1831Val) SNV Pathogenic 6959 rs121908972 GRCh37: 17:18044418-18044418
GRCh38: 17:18141104-18141104
10 MYO15A NM_016239.4(MYO15A):c.8968-1G>C SNV Pathogenic 6960 rs746051220 GRCh37: 17:18061836-18061836
GRCh38: 17:18158522-18158522
11 MYO15A NM_016239.4(MYO15A):c.10573del (p.Ser3525fs) Deletion Pathogenic 6961 rs1270302810 GRCh37: 17:18082164-18082164
GRCh38: 17:18178850-18178850
12 MYO15A NM_016239.4(MYO15A):c.9958_9961del (p.Asp3320fs) Deletion Pathogenic 6962 rs1567664131 GRCh37: 17:18070911-18070914
GRCh38: 17:18167597-18167600
13 MYO15A NM_016239.4(MYO15A):c.3311dup (p.Gly1104_Glu1105insTer) Duplication Pathogenic 203363 rs794729637 GRCh37: 17:18025419-18025420
GRCh38: 17:18122105-18122106
14 MYO15A NC_000017.1:g.18054799_18058246delinsCTCCCCGGAACGGCTGCTGGTAC Insertion Pathogenic 236039 GRCh37:
GRCh38:
15 MYO15A NM_016239.4(MYO15A):c.6340G>A (p.Val2114Met) SNV Pathogenic 236040 rs377385081 GRCh37: 17:18049252-18049252
GRCh38: 17:18145938-18145938
16 MYO15A NM_016239.4(MYO15A):c.8340G>A (p.Thr2780=) SNV Pathogenic 236038 rs878853228 GRCh37: 17:18058539-18058539
GRCh38: 17:18155225-18155225
17 MYO15A NM_016239.4(MYO15A):c.3944G>A (p.Gly1315Glu) SNV Pathogenic 242329 rs878854410 GRCh37: 17:18030391-18030391
GRCh38: 17:18127077-18127077
18 MYO15A NM_016239.4(MYO15A):c.5335del (p.Leu1779fs) Deletion Pathogenic 242332 rs878854413 GRCh37: 17:18043953-18043953
GRCh38: 17:18140639-18140639
19 MYO15A NM_016239.4(MYO15A):c.6178-2A>G SNV Pathogenic 242335 rs878854415 GRCh37: 17:18047809-18047809
GRCh38: 17:18144495-18144495
20 MYO15A NM_016239.4(MYO15A):c.6944del (p.Gly2315fs) Deletion Pathogenic 375676 rs1057519604 GRCh37: 17:18052251-18052251
GRCh38: 17:18148937-18148937
21 MYO15A NM_016239.4(MYO15A):c.9229+2T>C SNV Pathogenic 375678 rs1057519606 GRCh37: 17:18062663-18062663
GRCh38: 17:18159349-18159349
22 MYO15A NM_016239.4(MYO15A):c.7745_8224+177delinsCTCCCCGGAACGGCTGCTGGTAC Indel Pathogenic 813827 GRCh37: 17:18054799-18058246
GRCh38: 17:18151485-18154932
23 MYO15A NM_016239.4(MYO15A):c.477G>A (p.Trp159Ter) SNV Pathogenic 627451 rs1567618790 GRCh37: 17:18022591-18022591
GRCh38: 17:18119277-18119277
24 MYO15A NM_016239.4(MYO15A):c.8524G>T (p.Glu2842Ter) SNV Pathogenic 627452 rs766250454 GRCh37: 17:18059573-18059573
GRCh38: 17:18156259-18156259
25 MYO15A NM_016239.4(MYO15A):c.605C>A (p.Pro202His) SNV Pathogenic 627453 rs1229200252 GRCh37: 17:18022719-18022719
GRCh38: 17:18119405-18119405
26 MYO15A NM_016239.4(MYO15A):c.4522G>T (p.Glu1508Ter) SNV Pathogenic 627454 rs1567638693 GRCh37: 17:18039064-18039064
GRCh38: 17:18135750-18135750
27 MYO15A NM_016239.4(MYO15A):c.4609G>T (p.Glu1537Ter) SNV Pathogenic 627455 rs1555543432 GRCh37: 17:18039743-18039743
GRCh38: 17:18136429-18136429
28 MYO15A NM_016239.4(MYO15A):c.625G>T (p.Glu209Ter) SNV Pathogenic 417921 rs571594379 GRCh37: 17:18022739-18022739
GRCh38: 17:18119425-18119425
29 MYO15A NM_016239.4(MYO15A):c.6503T>G (p.Leu2168Arg) SNV Pathogenic 623382 rs1567648703 GRCh37: 17:18049415-18049415
GRCh38: 17:18146101-18146101
30 MYO15A NM_016239.4(MYO15A):c.488C>A (p.Ser163Ter) SNV Pathogenic 694390 rs773729617 GRCh37: 17:18022602-18022602
GRCh38: 17:18119288-18119288
31 MYO15A NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys) SNV Pathogenic 242330 rs878854411 GRCh37: 17:18034622-18034622
GRCh38: 17:18131308-18131308
32 MYO15A NM_016239.4(MYO15A):c.5673C>G (p.Tyr1891Ter) SNV Pathogenic 973491 GRCh37: 17:18045416-18045416
GRCh38: 17:18142102-18142102
33 MYO15A NM_016239.4(MYO15A):c.8714-1G>A SNV Pathogenic 178449 rs377015931 GRCh37: 17:18060469-18060469
GRCh38: 17:18157155-18157155
34 MYO15A NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs) Deletion Pathogenic 435919 rs780170125 GRCh37: 17:18052803-18052806
GRCh38: 17:18149489-18149492
35 MYO15A NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter) SNV Pathogenic 505185 rs759523751 GRCh37: 17:18023110-18023110
GRCh38: 17:18119796-18119796
36 MYO15A NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter) SNV Pathogenic 228373 rs765468034 GRCh37: 17:18046140-18046140
GRCh38: 17:18142826-18142826
37 MYO15A NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) SNV Pathogenic 632271 rs749136456 GRCh37: 17:18034837-18034837
GRCh38: 17:18131523-18131523
38 MYO15A NM_016239.4(MYO15A):c.5964+3G>C SNV Pathogenic 179269 rs530975087 GRCh37: 17:18046936-18046936
GRCh38: 17:18143622-18143622
39 MYO15A NM_016239.4(MYO15A):c.5531+1G>A SNV Pathogenic 164528 rs727503309 GRCh37: 17:18044458-18044458
GRCh38: 17:18141144-18141144
40 MYO15A NM_016239.4(MYO15A):c.9083+6T>A SNV Pathogenic 520436 rs1555547112 GRCh37: 17:18061958-18061958
GRCh38: 17:18158644-18158644
41 MYO15A NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) SNV Pathogenic 203364 rs375290498 GRCh37: 17:18046894-18046894
GRCh38: 17:18143580-18143580
42 MYO15A NM_016239.4(MYO15A):c.7006C>T (p.Gln2336Ter) SNV Pathogenic 1027553 GRCh37: 17:18052579-18052579
GRCh38: 17:18149265-18149265
43 MYO15A NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs) Duplication Pathogenic 803332 rs766187994 GRCh37: 17:18025637-18025638
GRCh38: 17:18122323-18122324
44 MYO15A NM_016239.4(MYO15A):c.7476_7477del (p.Lys2492fs) Deletion Pathogenic 439955 rs1305675114 GRCh37: 17:18054426-18054427
GRCh38: 17:18151112-18151113
45 MYO15A NM_016239.4(MYO15A):c.7994dup (p.Pro2665_Glu2666insTer) Duplication Pathogenic 1031960 GRCh37: 17:18057111-18057112
GRCh38: 17:18153797-18153798
46 MYO15A NM_016239.4(MYO15A):c.4528C>T (p.Gln1510Ter) SNV Pathogenic 375675 rs779077039 GRCh37: 17:18039070-18039070
GRCh38: 17:18135756-18135756
47 MYO15A NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter) SNV Pathogenic 498654 rs781546107 GRCh37: 17:18025619-18025619
GRCh38: 17:18122305-18122305
48 MYO15A NM_016239.4(MYO15A):c.5005C>T (p.Gln1669Ter) SNV Pathogenic 562078 rs1567641234 GRCh37: 17:18041558-18041558
GRCh38: 17:18138244-18138244
49 MYO15A NM_016239.4(MYO15A):c.4570C>T (p.Gln1524Ter) SNV Pathogenic 562083 rs1209665716 GRCh37: 17:18039112-18039112
GRCh38: 17:18135798-18135798
50 MYO15A NM_016239.4(MYO15A):c.7207G>T (p.Asp2403Tyr) SNV Pathogenic 236037 rs878853227 GRCh37: 17:18052889-18052889
GRCh38: 17:18149575-18149575

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 3:

72
# Symbol AA change Variation ID SNP ID
1 MYO15A p.Asn2111Tyr VAR_010303 rs121908966
2 MYO15A p.Ile2113Phe VAR_010304 rs121908965
3 MYO15A p.Gln2716His VAR_037964 rs121908969
4 MYO15A p.Leu1806Pro VAR_071648

Expression for Deafness, Autosomal Recessive 3

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

Pathways for Deafness, Autosomal Recessive 3

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

# Super pathways Score Top Affiliating Genes
1 10.17 MYO7A MYO15A

GO Terms for Deafness, Autosomal Recessive 3

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

# Name GO ID Score Top Affiliating Genes
1 vesicle GO:0031982 9.16 MYO7A MYO15A
2 myosin complex GO:0016459 8.96 MYO7A MYO15A
3 stereocilium GO:0032420 8.62 MYO7A MYO15A

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

# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.32 MYO7A MYO15A
2 inner ear morphogenesis GO:0042472 9.26 MYO7A MYO15A
3 inner ear development GO:0048839 9.16 MYO7A GJB2
4 vesicle transport along actin filament GO:0030050 8.96 MYO7A MYO15A
5 sensory perception of sound GO:0007605 8.8 MYO7A MYO15A GJB2

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.32 MYO7A MYO15A
2 calmodulin binding GO:0005516 9.26 MYO7A MYO15A
3 motor activity GO:0003774 9.16 MYO7A MYO15A
4 microfilament motor activity GO:0000146 8.96 MYO7A MYO15A
5 actin-dependent ATPase activity GO:0030898 8.62 MYO7A MYO15A

Sources for Deafness, Autosomal Recessive 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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