DFNB30
MCID: DFN203
MIFTS: 40

Deafness, Autosomal Recessive 30 (DFNB30)

Categories: Blood diseases, 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 58 30 13 6 74
Dfnb30 58 12 76
Autosomal Recessive Nonsyndromic Deafness 30 12 15
Deafness, Autosomal Recessive, Type 30 41
Deafness, Autosomal Recessive, 30 76
Autosomal Recessive Deafness 30 12

Characteristics:

OMIM:

58
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:

33
deafness, autosomal recessive 30:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110489
OMIM 58 607101
MeSH 45 D003638
ICD10 34 H90.3
MedGen 43 C1846784
SNOMED-CT via HPO 70 258211005
UMLS 74 C1846784

Summaries for Deafness, Autosomal Recessive 30

UniProtKB/Swiss-Prot : 76 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 deafness, autosomal dominant 1 and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. 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. 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.

Description from OMIM: 607101

Related Diseases for Deafness, Autosomal Recessive 30

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 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 Deafness, Autosomal Recessive 30 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 1 10.4 MYO1A MYO3A
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
3 deafness, autosomal recessive 28 10.2 ESPN GJB2
4 congenital cytomegalovirus 10.1 GJB2 MT-RNR1
5 auditory neuropathy spectrum disorder 10.0 MT-RNR1 MYO7A
6 deafness, autosomal recessive 67 10.0 ESPN GJB2
7 deafness, autosomal recessive 26 10.0 GJB2 SLC26A4
8 dfnb1 10.0 GJB2 MYO7A
9 vestibular disease 10.0 GJB2 SLC26A4
10 deafness, autosomal recessive 12 10.0 GJB2 MYO7A
11 ear malformation 9.9 GJB2 SLC26A4
12 deafness, autosomal recessive 7 9.9 GJB2 MT-RNR1 TMC1
13 usher syndrome, type ic 9.9 MYO15A MYO7A
14 deafness, autosomal recessive 6 9.9 GJB2 MYO7A
15 deafness, autosomal dominant 11 9.9 MYO15A MYO6 MYO7A
16 deafness, autosomal recessive 3 9.9 GJB2 MYO15A MYO7A
17 drug-induced hearing loss 9.8 GJB2 SLC26A4
18 deafness, autosomal dominant 20 9.8 ESPN MYH14
19 deafness, autosomal recessive 85 9.8 MYO15A MYO7A SLC26A4
20 deafness, autosomal recessive 83 9.8 MYO15A MYO7A SLC26A4
21 deafness, autosomal recessive 23 9.7 GJB2 MYO7A SLC26A4
22 deafness, autosomal recessive 16 9.7 GJB2 MYO7A SLC26A4
23 deafness, autosomal dominant 13 9.7 GJB2 MYO7A SLC26A4
24 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 GJB2 MYO7A SLC26A4
25 autosomal recessive nonsyndromic deafness 9.7 GJB2 MYO15A SLC26A4 TMC1
26 deafness, autosomal dominant 36 9.6 GJB2 MT-RNR1 SLC26A4 TMC1
27 autosomal dominant nonsyndromic deafness 9.6 MYH14 MYO6 MYO7A TMC1
28 deafness, autosomal recessive 2 9.5 GJB2 MYO15A MYO1A MYO6 MYO7A
29 branchiootic syndrome 1 9.5 GJB2 MYO7A SLC26A4 TMC1
30 hodgkin's lymphoma, nodular sclerosis 9.5 GJB2 MT-RNR1 MYO15A SLC26A4 TMC1
31 deafness, autosomal dominant 6 9.4 GJB2 MYH14 MYO7A SLC26A4
32 non-syndromic genetic deafness 9.3 GJB2 MYH9 MYO15A MYO6 TMC1
33 inner ear disease 9.0 GJB2 MT-RNR1 MYH9 MYO7A SLC26A4
34 deafness, autosomal dominant 17 8.9 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
35 deafness, autosomal dominant 22 8.8 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
36 deafness, autosomal recessive 37 8.8 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
37 deafness, autosomal dominant 48 8.8 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
38 auditory system disease 8.6 GJB2 MT-RNR1 MYH9 MYO15A MYO7A SLC26A4
39 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.3 ESPN GJB2 MYH9 MYO15A MYO3A MYO6
40 autosomal recessive nonsyndromic deafness 3 8.3 GJB2 MYH14 MYH9 MYO15A MYO1A MYO3A
41 sensorineural hearing loss 8.2 ESPN GJB2 MYH14 MYH9 MYO15A MYO6
42 nonsyndromic deafness 7.7 ESPN GJB2 MT-RNR1 MYH14 MYH9 MYO15A

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:

33
# Description HPO Frequency HPO Source Accession
1 progressive hearing impairment 33 HP:0001730
2 progressive sensorineural hearing impairment 33 HP:0000408

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
hearing loss, sensorineural, progressive (moderate to severe)

Clinical features from OMIM:

607101

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 30:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 ESPN MYO15A MYO3A MYO3B MYO6 MYO7A
2 hearing/vestibular/ear MP:0005377 9.65 ESPN GJB2 MYH9 MYO15A MYO1A MYO3A
3 nervous system MP:0003631 9.36 ESPN GJB2 MYH14 MYH9 MYO15A MYO3A

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 30 MYO3A

Anatomical Context for Deafness, Autosomal Recessive 30

Publications for Deafness, Autosomal Recessive 30

Articles related to Deafness, Autosomal Recessive 30:

# Title Authors Year
1
A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA. ( 21165622 )
2011

Variations for Deafness, Autosomal Recessive 30

ClinVar genetic disease variations for Deafness, Autosomal Recessive 30:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO3A NM_017433.4(MYO3A): c.2275A> T (p.Asn759Tyr) single nucleotide variant Uncertain significance rs201033926 GRCh37 Chromosome 10, 26432389: 26432389
2 MYO3A NM_017433.4(MYO3A): c.2275A> T (p.Asn759Tyr) single nucleotide variant Uncertain significance rs201033926 GRCh38 Chromosome 10, 26143460: 26143460
3 MYO3A NM_017433.4(MYO3A): c.3129T> G (p.Tyr1043Ter) single nucleotide variant Pathogenic rs193919333 GRCh37 Chromosome 10, 26457658: 26457658
4 MYO3A NM_017433.4(MYO3A): c.3129T> G (p.Tyr1043Ter) single nucleotide variant Pathogenic rs193919333 GRCh38 Chromosome 10, 26168729: 26168729
5 MYO3A NM_017433.5(MYO3A): c.1777-12G> A single nucleotide variant Pathogenic GRCh37 Chromosome 10, 26409593: 26409593
6 MYO3A NM_017433.5(MYO3A): c.1777-12G> A single nucleotide variant Pathogenic GRCh38 Chromosome 10, 26120664: 26120664
7 MYO3A NM_017433.5(MYO3A): c.732-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 10, 26312949: 26312949
8 MYO3A NM_017433.5(MYO3A): c.732-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 10, 26024020: 26024020
9 MYO3A NM_017433.4(MYO3A): c.3155G> A (p.Arg1052Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 26457684: 26457684
10 MYO3A NM_017433.4(MYO3A): c.3155G> A (p.Arg1052Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 26168755: 26168755
11 MYO3A NM_017433.4(MYO3A): c.3155G> A (p.Arg1052Gln) single nucleotide variant Uncertain significance NCBI36 Chromosome 10, 26497690: 26497690
12 MYO3A NM_017433.4(MYO3A): c.848A> C (p.Gln283Pro) single nucleotide variant Uncertain significance rs199541460 GRCh37 Chromosome 10, 26315356: 26315356
13 MYO3A NM_017433.4(MYO3A): c.848A> C (p.Gln283Pro) single nucleotide variant Uncertain significance rs199541460 GRCh38 Chromosome 10, 26026427: 26026427

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
13.55 MYH14 MYH9 MYO15A MYO1A MYO3A MYO3B
2
Show member pathways
13.2 MYH14 MYH9 MYO15A MYO1A MYO3A MYO3B
3
Show member pathways
13.1 MYH14 MYH9 MYO15A MYO1A MYO3A MYO3B
4
Show member pathways
12.89 MYH14 MYH9 MYO15A MYO1A MYO3A MYO3B
5
Show member pathways
12.8 MYH14 MYH9 MYO15A MYO1A MYO3A MYO3B
6
Show member pathways
12.71 MYH14 MYH9 MYO15A MYO1A MYO3A MYO3B
7
Show member pathways
12.14 MYH14 MYH9 MYO15A MYO1A MYO3A MYO3B
8
Show member pathways
11.96 MYH14 MYH9 MYO15A MYO1A MYO3A MYO3B
9 11.1 MYH14 MYH9 MYO15A MYO1A MYO3A MYO3B
10 10.37 MYH14 MYH9 MYO15A MYO1A MYO3A MYO3B

GO Terms for Deafness, Autosomal Recessive 30

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.97 ESPN MYH9 MYO15A MYO3A MYO3B MYO7A
2 cell projection GO:0042995 9.92 ESPN MYO15A MYO3A MYO3B MYO6
3 cell cortex GO:0005938 9.69 MYH9 MYO6 MYO7A
4 microvillus GO:0005902 9.67 ESPN MYO1A MYO6 MYO7A
5 brush border GO:0005903 9.62 ESPN MYH14 MYH9 MYO1A
6 filamentous actin GO:0031941 9.56 ESPN MYO1A MYO3A MYO6
7 actomyosin GO:0042641 9.48 MYH14 MYH9
8 stereocilium bundle GO:0032421 9.46 ESPN MYO15A
9 stereocilium tip GO:0032426 9.46 ESPN MYO3A MYO3B TMC1
10 myosin II complex GO:0016460 9.43 MYH14 MYH9
11 myosin II filament GO:0097513 9.4 MYH14 MYH9
12 stereocilium GO:0032420 9.35 ESPN MYO15A MYO3A MYO3B MYO7A
13 myosin complex GO:0016459 9.23 MYH14 MYH9 MYO15A MYO1A MYO3A MYO3B
14 cytoplasm GO:0005737 10.24 ESPN GJB2 MYH14 MYH9 MYO15A MYO1A

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.5 MYO3A MYO3B MYO7A
2 sensory perception of sound GO:0007605 9.36 ESPN GJB2 MYH14 MYO15A MYO1A MYO3A
3 actomyosin structure organization GO:0031032 9.26 MYH14 MYH9
4 actin filament-based movement GO:0030048 9.26 MYH14 MYH9 MYO6 MYO7A
5 cochlea morphogenesis GO:0090103 9.16 MYO3A MYO3B

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.85 ESPN MYH14 MYH9 MYO1A MYO6 MYO7A
2 nucleotide binding GO:0000166 9.76 MYH14 MYH9 MYO3A MYO7A
3 ADP binding GO:0043531 9.71 MYH9 MYO3A MYO6 MYO7A
4 calmodulin binding GO:0005516 9.7 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
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 actin binding GO:0003779 9.56 MYH14 MYH9 MYO15A MYO1A MYO3A MYO3B
8 motor activity GO:0003774 9.23 MYH14 MYH9 MYO15A MYO1A MYO3A MYO3B
9 ATP binding GO:0005524 10.03 MYH14 MYH9 MYO15A MYO1A MYO3A MYO3B

Sources for Deafness, Autosomal Recessive 30

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
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