DFNB30
MCID: DFN203
MIFTS: 41

Deafness, Autosomal Recessive 30 (DFNB30)

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

Aliases & Classifications for Deafness, Autosomal Recessive 30

MalaCards integrated aliases for Deafness, Autosomal Recessive 30:

Name: Deafness, Autosomal Recessive 30 57 29 13 6 70
Dfnb30 57 12 72
Autosomal Recessive Nonsyndromic Deafness 30 12 15
Deafness, Autosomal Recessive, Type 30 39
Deafness, Autosomal Recessive, 30 72
Autosomal Recessive Deafness 30 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset in the second decade and by age 50 is severe in high and middle frequencies and moderate at low frequencies
based on a family from an endogamous jewish community of mosul, iraq (last curated august 2015)


HPO:

31
deafness, autosomal recessive 30:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110489
OMIM® 57 607101
OMIM Phenotypic Series 57 PS220290
MeSH 44 D003638
ICD10 32 H90.3
MedGen 41 C1846784
SNOMED-CT via HPO 68 258211005
UMLS 70 C1846784

Summaries for Deafness, Autosomal Recessive 30

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 30: A form of non-syndromic deafness characterized by bilateral progressive hearing loss, which first affects the high frequencies. Hearing loss begins in the second decade, and by age 50 is severe in high and middle frequencies and moderate at low frequencies.

MalaCards based summary : Deafness, Autosomal Recessive 30, also known as dfnb30, is related to autosomal recessive non-syndromic sensorineural deafness type dfnb and nonsyndromic hearing loss. An important gene associated with Deafness, Autosomal Recessive 30 is MYO3A (Myosin IIIA), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include eye, and related phenotypes are progressive hearing impairment and progressive sensorineural hearing impairment

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 mutations in the MYO3A gene on chromosome 10p12.1.

More information from OMIM: 607101 PS220290

Related Diseases for Deafness, Autosomal Recessive 30

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 30 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.5 WHRN PCDH15 MYO7A MYO6 MYO3A MYO15A
2 nonsyndromic hearing loss 28.5 PCDH15 MYO7A MYO6 MYO3A MYO15A MYH14
3 deafness, autosomal recessive 3 10.3 MYO7A MYO15A
4 deafness, autosomal recessive 7 10.2 MYO7A MYO15A
5 deafness, autosomal recessive 83 10.2 MYO7A MYO15A
6 deafness, autosomal dominant 6 10.2 MYO7A MYO15A
7 deafness, autosomal recessive 25 10.2 MYO15A ESPNL
8 deafness, autosomal recessive 1b 10.2 MYO15A ESPN
9 deafness, autosomal recessive 102 10.2 WHRN MYO15A
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
11 deafness, autosomal recessive 48 10.1 WHRN MYO7A
12 rare deafness 10.1 PCDH15 MYO7A
13 deafness, autosomal recessive 79 10.1 WHRN MYO3A MYO15A
14 deafness, autosomal recessive 28 10.1 MYO15A ESPNL ESPN
15 dfnb1 10.0 PCDH15 MYO7A
16 deafness, autosomal recessive 63 10.0 MYO7A MYO15A
17 deafness, autosomal dominant 65 10.0 WHRN PCDH15
18 y-linked deafness 10.0 PCDH15 MYO1A
19 y-linked monogenic disease 10.0 PCDH15 MYO1A
20 usher syndrome, type ic 10.0 PCDH15 MYO7A
21 deafness, autosomal recessive 86 10.0 WHRN PCDH15
22 nonsyndromic deafness 10.0 PCDH15 MYO7A MYO15A
23 myh-9 related disease 10.0 MYO7A MYH14
24 deafness, autosomal dominant 36 10.0 PCDH15 MYO15A ESPN
25 deafness, autosomal recessive 18a 10.0 PCDH15 MYO7A MYO15A
26 vestibular disease 9.9 PCDH15 MYO7A MYO15A
27 inner ear disease 9.9 PCDH15 MYO7A MYO15A
28 branchiootic syndrome 1 9.9
29 retinal degeneration 9.9
30 usher syndrome, type ih 9.9 WHRN PCDH15 MYO7A
31 usher syndrome, type ij 9.9 WHRN PCDH15 MYO7A
32 usher syndrome, type iiib 9.9 WHRN PCDH15 MYO7A
33 usher syndrome, type ig 9.9 WHRN PCDH15 MYO7A
34 deafness, autosomal recessive 15 9.9 MYO6 MYO15A
35 digenic disease 9.9 WHRN PCDH15 MYO7A
36 retinitis pigmentosa-deafness syndrome 9.9 WHRN PCDH15 MYO7A
37 usher syndrome, type iia 9.9 WHRN PCDH15 MYO7A
38 deafness, autosomal recessive 9 9.8 MYO7A MYO15A
39 eye degenerative disease 9.8 WHRN PCDH15 MYO7A
40 deafness, autosomal dominant 15 9.8 MYO7A MYO6
41 deafness, autosomal recessive 71 9.8 MYO7A MYO6
42 deafness, autosomal dominant 1, with or without thrombocytopenia 9.8 MYO7A MYO3A MYO15A MYH14
43 usher syndrome, type iid 9.7 WHRN PCDH15 MYO7A MYO15A
44 deafness, autosomal recessive 23 9.7 WHRN PCDH15 MYO7A MYO15A
45 usher syndrome, type if 9.7 WHRN PCDH15 MYO7A MYO15A
46 usher syndrome, type iic 9.7 WHRN PCDH15 MYO7A MYO15A
47 deafness, autosomal recessive 12 9.7 WHRN PCDH15 MYO7A MYO15A
48 deafness, autosomal dominant 7 9.7 MYO6 MYO1A
49 usher syndrome, type iiia 9.7 WHRN PCDH15 MYO7A MYO15A
50 deafness, autosomal dominant 9 9.7 MYO7A MYO6

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 30:



Diseases related to Deafness, Autosomal Recessive 30

Symptoms & Phenotypes for Deafness, Autosomal Recessive 30

Human phenotypes related to Deafness, Autosomal Recessive 30:

31
# Description HPO Frequency HPO Source Accession
1 progressive hearing impairment 31 HP:0001730
2 progressive sensorineural hearing impairment 31 HP:0000408

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
hearing loss, sensorineural, progressive (moderate to severe)

Clinical features from OMIM®:

607101 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 30:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 ESPN ESPNL MYO15A MYO3A MYO3B MYO6
2 hearing/vestibular/ear MP:0005377 9.61 ESPN ESPNL MYO15A MYO1A MYO3A MYO6
3 nervous system MP:0003631 9.28 ESPN MYH14 MYO15A MYO3A MYO3B MYO6

Drugs & Therapeutics for Deafness, Autosomal Recessive 30

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 30

Genetic Tests for Deafness, Autosomal Recessive 30

Genetic tests related to Deafness, Autosomal Recessive 30:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 30 29 MYO3A

Anatomical Context for Deafness, Autosomal Recessive 30

MalaCards organs/tissues related to Deafness, Autosomal Recessive 30:

40
Eye

Publications for Deafness, Autosomal Recessive 30

Articles related to Deafness, Autosomal Recessive 30:

# Title Authors PMID Year
1
From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. 61 6 57
12032315 2002
2
A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA. 6 61
21165622 2011
3
Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3. 6
32006683 2020
4
Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing. 6
26166082 2015
5
Knock-In Mice with Myo3a Y137C Mutation Displayed Progressive Hearing Loss and Hair Cell Degeneration in the Inner Ear. 61
30123247 2018
6
Identification of a novel homozygous mutation in MYO3A in a Chinese family with DFNB30 non-syndromic hearing impairment. 61
27063751 2016
7
Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth. 61
26754646 2016
8
A study of GJB2 and delGJB6-D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region. 61
23503914 2013
9
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 61
18348273 2008
10
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. 61
15605408 2005

Variations for Deafness, Autosomal Recessive 30

ClinVar genetic disease variations for Deafness, Autosomal Recessive 30:

6 (show top 50) (show all 154)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYO3A NM_017433.5(MYO3A):c.3129T>G (p.Tyr1043Ter) SNV Pathogenic 4014 rs193919333 GRCh37: 10:26457658-26457658
GRCh38: 10:26168729-26168729
2 MYO3A NM_017433.5(MYO3A):c.1777-12G>A SNV Pathogenic 4015 rs1564568849 GRCh37: 10:26409593-26409593
GRCh38: 10:26120664-26120664
3 MYO3A NM_017433.5(MYO3A):c.732-2A>G SNV Pathogenic 4016 rs1023746725 GRCh37: 10:26312949-26312949
GRCh38: 10:26024020-26024020
4 MYO3A NM_017433.5(MYO3A):c.3948dup (p.Cys1317fs) Duplication Pathogenic 802566 rs1589079163 GRCh37: 10:26463140-26463141
GRCh38: 10:26174211-26174212
5 MYO3A NM_017433.5(MYO3A):c.1684A>T (p.Arg562Ter) SNV Pathogenic 627462 rs1564544199 GRCh37: 10:26385519-26385519
GRCh38: 10:26096590-26096590
6 MYO3A NM_017433.5(MYO3A):c.1732G>T (p.Glu578Ter) SNV Pathogenic 627463 rs1564544348 GRCh37: 10:26385567-26385567
GRCh38: 10:26096638-26096638
7 MYO3A NM_017433.5(MYO3A):c.3574dup (p.Met1192fs) Duplication Pathogenic 1032744 GRCh37: 10:26462759-26462760
GRCh38: 10:26173830-26173831
8 MYO3A NM_017433.5(MYO3A):c.4173_4174del (p.His1391fs) Deletion Pathogenic 1032745 GRCh37: 10:26463365-26463366
GRCh38: 10:26174436-26174437
9 MYO3A NM_017433.5(MYO3A):c.4546-2A>G SNV Pathogenic 1032746 GRCh37: 10:26490192-26490192
GRCh38: 10:26201263-26201263
10 MYO3A NM_017433.5(MYO3A):c.4634dup (p.Leu1545fs) Duplication Pathogenic 1032747 GRCh37: 10:26491935-26491936
GRCh38: 10:26203006-26203007
11 MYO3A NM_017433.5(MYO3A):c.1501del (p.Ala500_Val501insTer) Deletion Pathogenic 1032743 GRCh37: 10:26377272-26377272
GRCh38: 10:26088343-26088343
12 MYO3A NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs) Deletion Pathogenic 655296 rs760866131 GRCh37: 10:26377141-26377142
GRCh38: 10:26088212-26088213
13 MYO3A NM_017433.5(MYO3A):c.3499del (p.Ser1167fs) Deletion Pathogenic/Likely pathogenic 618746 rs752046945 GRCh37: 10:26462691-26462691
GRCh38: 10:26173762-26173762
14 MYO3A NM_017433.5(MYO3A):c.2636-1G>T SNV Likely pathogenic 627464 rs1564602202 GRCh37: 10:26442778-26442778
GRCh38: 10:26153849-26153849
15 MYO3A NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) SNV Conflicting interpretations of pathogenicity 631635 rs138593211 GRCh37: 10:26491987-26491987
GRCh38: 10:26203058-26203058
16 MYO3A NM_017433.5(MYO3A):c.2701A>G (p.Ile901Val) SNV Uncertain significance 452379 rs1371951424 GRCh37: 10:26442844-26442844
GRCh38: 10:26153915-26153915
17 MYO3A NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) SNV Uncertain significance 178465 rs143918373 GRCh37: 10:26385390-26385390
GRCh38: 10:26096461-26096461
18 MYO3A NM_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser) SNV Uncertain significance 290824 rs146693681 GRCh37: 10:26463125-26463125
GRCh38: 10:26174196-26174196
19 MYO3A NM_017433.5(MYO3A):c.2625G>C (p.Leu875=) SNV Uncertain significance 179937 rs371741845 GRCh37: 10:26436478-26436478
GRCh38: 10:26147549-26147549
20 MYO3A NM_017433.5(MYO3A):c.*435G>T SNV Uncertain significance 299689 rs886046931 GRCh37: 10:26501327-26501327
GRCh38: 10:26212398-26212398
21 MYO3A NM_017433.5(MYO3A):c.1662-9T>A SNV Uncertain significance 299657 rs200678745 GRCh37: 10:26385488-26385488
GRCh38: 10:26096559-26096559
22 MYO3A NM_017433.5(MYO3A):c.2169T>C (p.Asn723=) SNV Uncertain significance 45802 rs114982270 GRCh37: 10:26417374-26417374
GRCh38: 10:26128445-26128445
23 MYO3A NM_017433.5(MYO3A):c.4530C>T (p.Tyr1510=) SNV Uncertain significance 299679 rs139504940 GRCh37: 10:26482225-26482225
GRCh38: 10:26193296-26193296
24 MYO3A NM_017433.5(MYO3A):c.3408C>T (p.Phe1136=) SNV Uncertain significance 164625 rs61731629 GRCh37: 10:26462601-26462601
GRCh38: 10:26173672-26173672
25 MYO3A NM_017433.5(MYO3A):c.177C>T (p.Asp59=) SNV Uncertain significance 164603 rs139958275 GRCh37: 10:26243811-26243811
GRCh38: 10:25954882-25954882
26 MYO3A NM_017433.5(MYO3A):c.3028G>A (p.Glu1010Lys) SNV Uncertain significance 178466 rs61729833 GRCh37: 10:26455024-26455024
GRCh38: 10:26166095-26166095
27 MYO3A NM_017433.5(MYO3A):c.546G>T (p.Arg182=) SNV Uncertain significance 178460 rs148349532 GRCh37: 10:26305786-26305786
GRCh38: 10:26016857-26016857
28 MYO3A NM_017433.5(MYO3A):c.3352A>G (p.Thr1118Ala) SNV Uncertain significance 178467 rs138955440 GRCh37: 10:26459422-26459422
GRCh38: 10:26170493-26170493
29 MYO3A NM_017433.5(MYO3A):c.2275A>T (p.Asn759Tyr) SNV Uncertain significance 164620 rs201033926 GRCh37: 10:26432389-26432389
GRCh38: 10:26143460-26143460
30 MYO3A NM_017433.5(MYO3A):c.3859C>A (p.Pro1287Thr) SNV Uncertain significance 45810 rs35575696 GRCh37: 10:26463052-26463052
GRCh38: 10:26174123-26174123
31 MYO3A NM_017433.5(MYO3A):c.4250C>T (p.Thr1417Ile) SNV Uncertain significance 45813 rs34151474 GRCh37: 10:26463443-26463443
GRCh38: 10:26174514-26174514
32 MYO3A NM_017433.5(MYO3A):c.555del (p.Ser185_Val186insTer) Deletion Uncertain significance 631631 rs773432148 GRCh37: 10:26305794-26305794
GRCh38: 10:26016865-26016865
33 MYO3A NM_017433.5(MYO3A):c.991C>T (p.Arg331Ter) SNV Uncertain significance 631632 rs749269594 GRCh37: 10:26355941-26355941
GRCh38: 10:26067012-26067012
34 MYO3A NM_017433.5(MYO3A):c.1588dup (p.Tyr530fs) Duplication Uncertain significance 631633 rs1564543838 GRCh37: 10:26385329-26385330
GRCh38: 10:26096400-26096401
35 MYO3A NM_017433.5(MYO3A):c.4505T>G (p.Leu1502Ter) SNV Uncertain significance 631634 rs754217606 GRCh37: 10:26482200-26482200
GRCh38: 10:26193271-26193271
36 MYO3A NM_017433.5(MYO3A):c.4849T>C (p.Ter1617Gln) SNV Uncertain significance 632133 rs141985215 GRCh37: 10:26500890-26500890
GRCh38: 10:26211961-26211961
37 MYO3A NM_017433.5(MYO3A):c.*195C>T SNV Uncertain significance 879542 GRCh37: 10:26501087-26501087
GRCh38: 10:26212158-26212158
38 MYO3A NM_017433.5(MYO3A):c.*239C>T SNV Uncertain significance 879543 GRCh37: 10:26501131-26501131
GRCh38: 10:26212202-26212202
39 MYO3A NM_017433.5(MYO3A):c.-146G>A SNV Uncertain significance 879708 GRCh37: 10:26223216-26223216
GRCh38: 10:25934287-25934287
40 MYO3A NM_017433.5(MYO3A):c.-109C>T SNV Uncertain significance 879709 GRCh37: 10:26223253-26223253
GRCh38: 10:25934324-25934324
41 MYO3A NM_017433.5(MYO3A):c.1111G>A (p.Val371Met) SNV Uncertain significance 879769 GRCh37: 10:26357754-26357754
GRCh38: 10:26068825-26068825
42 MYO3A NM_017433.5(MYO3A):c.2188G>A (p.Glu730Lys) SNV Uncertain significance 879812 GRCh37: 10:26417393-26417393
GRCh38: 10:26128464-26128464
43 MYO3A NM_017433.5(MYO3A):c.3730T>C (p.Tyr1244His) SNV Uncertain significance 227667 rs148993025 GRCh37: 10:26462923-26462923
GRCh38: 10:26173994-26173994
44 MYO3A NM_017433.5(MYO3A):c.3763G>A (p.Ala1255Thr) SNV Uncertain significance 879857 GRCh37: 10:26462956-26462956
GRCh38: 10:26174027-26174027
45 MYO3A NM_017433.5(MYO3A):c.3774A>T (p.Leu1258=) SNV Uncertain significance 879858 GRCh37: 10:26462967-26462967
GRCh38: 10:26174038-26174038
46 MYO3A NM_017433.5(MYO3A):c.*354A>G SNV Uncertain significance 879904 GRCh37: 10:26501246-26501246
GRCh38: 10:26212317-26212317
47 MYO3A NM_017433.5(MYO3A):c.*476G>A SNV Uncertain significance 879905 GRCh37: 10:26501368-26501368
GRCh38: 10:26212439-26212439
48 MYO3A NM_017433.5(MYO3A):c.*538G>T SNV Uncertain significance 879906 GRCh37: 10:26501430-26501430
GRCh38: 10:26212501-26212501
49 MYO3A NM_017433.5(MYO3A):c.2133G>A (p.Leu711=) SNV Uncertain significance 164619 rs56147819 GRCh37: 10:26417338-26417338
GRCh38: 10:26128409-26128409
50 MYO3A NM_017433.5(MYO3A):c.152T>A (p.Ile51Asn) SNV Uncertain significance 299644 rs144008984 GRCh37: 10:26241191-26241191
GRCh38: 10:25952262-25952262

Expression for Deafness, Autosomal Recessive 30

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 30.

Pathways for Deafness, Autosomal Recessive 30

Pathways related to Deafness, Autosomal Recessive 30 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.45 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
2
Show member pathways
13.09 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
3
Show member pathways
12.98 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
4
Show member pathways
12.75 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
5
Show member pathways
12.59 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
6
Show member pathways
12.53 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
7
Show member pathways
11.88 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
8 10.71 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A

GO Terms for Deafness, Autosomal Recessive 30

Cellular components related to Deafness, Autosomal Recessive 30 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.24 WHRN MYO7A MYO6 MYO3B MYO3A MYO1A
2 cell projection GO:0042995 9.92 WHRN MYO6 MYO3B MYO3A MYO15A MORN4
3 actin cytoskeleton GO:0015629 9.76 MYO7A MYO6 MYO1A MYO15A
4 vesicle GO:0031982 9.71 MYO7A MYO6 MYO1A MYO15A
5 microvillus GO:0005902 9.67 MYO7A MYO6 MYO1A ESPN
6 stereocilium tip GO:0032426 9.63 WHRN MYO3B MYO3A MORN4 ESPNL ESPN
7 brush border GO:0005903 9.61 MYO1A MYH14 ESPN
8 filamentous actin GO:0031941 9.56 MYO6 MYO3A MYO1A ESPN
9 photoreceptor connecting cilium GO:0032391 9.52 WHRN MYO7A
10 filopodium tip GO:0032433 9.51 MYO3A MORN4
11 myosin complex GO:0016459 9.5 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
12 stereocilium bundle GO:0032421 9.48 WHRN MYO15A
13 stereocilium GO:0032420 9.28 WHRN PCDH15 MYO7A MYO3B MYO3A MYO15A

Biological processes related to Deafness, Autosomal Recessive 30 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.69 MYO7A MYO3B MYO3A
2 actin filament organization GO:0007015 9.62 MYO7A MYO6 MYO1A MYO15A
3 inner ear morphogenesis GO:0042472 9.54 MYO7A MYO6 MYO15A
4 actin filament bundle assembly GO:0051017 9.52 ESPNL ESPN
5 cochlea morphogenesis GO:0090103 9.49 MYO3B MYO3A
6 inner ear receptor cell stereocilium organization GO:0060122 9.48 WHRN MYO7A
7 auditory receptor cell stereocilium organization GO:0060088 9.46 WHRN MYO7A
8 equilibrioception GO:0050957 9.43 PCDH15 MYO7A
9 actin filament-based movement GO:0030048 9.43 MYO7A MYO6 MYH14
10 inner ear auditory receptor cell differentiation GO:0042491 9.4 MYO7A MYO6
11 sensory perception of sound GO:0007605 9.36 WHRN PCDH15 MYO7A MYO6 MYO3B MYO3A
12 sensory perception of light stimulus GO:0050953 9.33 WHRN PCDH15 MYO7A
13 vesicle transport along actin filament GO:0030050 9.26 MYO7A MYO6 MYO1A MYO15A

Molecular functions related to Deafness, Autosomal Recessive 30 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
2 ATP binding GO:0005524 9.98 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
3 actin filament binding GO:0051015 9.87 MYO7A MYO6 MYO1A MYO15A MYH14 ESPNL
4 calmodulin binding GO:0005516 9.85 MYO7A MYO6 MYO3A MYO1A MYO15A MYH14
5 actin binding GO:0003779 9.81 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
6 motor activity GO:0003774 9.8 MYO7A MYO6 MYO3B MYO3A MYO1A MYO15A
7 ADP binding GO:0043531 9.58 MYO7A MYO6 MYO3A
8 microfilament motor activity GO:0000146 9.43 MYO7A MYO6 MYO3A MYO1A MYO15A MYH14
9 actin-dependent ATPase activity GO:0030898 9.1 MYO7A MYO6 MYO3A MYO1A MYO15A MYH14

Sources for Deafness, Autosomal Recessive 30

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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