MCID: DFN203
MIFTS: 40

Deafness, Autosomal Recessive 30

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

Aliases & Classifications for Deafness, Autosomal Recessive 30

MalaCards integrated aliases for Deafness, Autosomal Recessive 30:

Name: Deafness, Autosomal Recessive 30 53 28 13 69
Dfnb30 53 12 71
Autosomal Recessive Nonsyndromic Deafness 30 12 14
Deafness, Autosomal Recessive, 30 71
Autosomal Recessive Deafness 30 12

Characteristics:

OMIM:

53
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:

OMIM 53 607101
Disease Ontology 12 DOID:0110489
ICD10 32 H90.3
MedGen 39 C1846784
MeSH 41 D003638
SNOMED-CT via HPO 65 258211005
UMLS 69 C1846784

Summaries for Deafness, Autosomal Recessive 30

UniProtKB/Swiss-Prot : 71 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 deafness, autosomal recessive 28, and has symptoms including progressive sensorineural hearing impairment and progressive hearing impairment. An important gene associated with Deafness, Autosomal Recessive 30 is MYO3A (Myosin IIIA), and among its related pathways/superpathways are ERK Signaling and PAK Pathway. Related phenotypes are behavior/neurological and hearing/vestibular/ear

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 32 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 Recessive 105 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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 1 10.3 MYO1A MYO3A
2 deafness, autosomal recessive 28 10.1 ESPN GJB2
3 congenital cytomegalovirus 10.0 GJB2 MT-RNR1
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
5 deafness, autosomal recessive 26 9.9 GJB2 SLC26A4
6 deafness, autosomal dominant 20 9.9 ESPN MYH14
7 vestibular disease 9.9 GJB2 SLC26A4
8 deafness, autosomal recessive 67 9.9 ESPN GJB2
9 dfnb1 9.9 GJB2 MYO7A
10 ear malformation 9.8 GJB2 SLC26A4
11 deafness, autosomal recessive 7 9.8 GJB2 MT-RNR1 TMC1
12 deafness, autosomal recessive 6 9.8 GJB2 MYO7A
13 deafness, autosomal recessive 3 9.7 GJB2 MYO15A MYO7A
14 deafness, autosomal recessive 85 9.7 MYO15A MYO7A SLC26A4
15 deafness, autosomal recessive 83 9.7 MYO15A MYO7A SLC26A4
16 deafness, autosomal dominant 11 9.7 MYO15A MYO1A MYO6 MYO7A
17 deafness, autosomal recessive 63 9.6 GJB2 MYO7A TMC1
18 non-syndromic genetic deafness 9.6 GJB2 MYO15A MYO6 TMC1
19 deafness, autosomal recessive 23 9.6 GJB2 MYO7A SLC26A4
20 deafness, autosomal recessive 16 9.6 GJB2 MYO7A SLC26A4
21 deafness, autosomal dominant 13 9.5 GJB2 MYO7A SLC26A4
22 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.5 GJB2 MYO7A SLC26A4
23 deafness, autosomal recessive 9.5 ESPN GJB2 MYO6 SLC26A4
24 autosomal recessive nonsyndromic deafness 9.5 GJB2 MYO15A SLC26A4 TMC1
25 deafness, autosomal dominant 36 9.4 GJB2 MT-RNR1 SLC26A4 TMC1
26 deafness, autosomal dominant 6 9.4 GJB2 MYH14 MYO7A SLC26A4
27 deafness, autosomal recessive 2 9.3 GJB2 MYO15A MYO1A MYO6 MYO7A
28 deafness, autosomal recessive 12 9.3 GJB2 MT-RNR1 MYO7A SLC26A4
29 hodgkin's lymphoma, nodular sclerosis 9.2 GJB2 MT-RNR1 MYO15A SLC26A4 TMC1
30 inner ear disease 8.7 GJB2 MT-RNR1 MYH9 MYO7A SLC26A4
31 deafness, autosomal dominant 17 8.7 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
32 deafness, autosomal dominant 22 8.7 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
33 deafness, autosomal recessive 37 8.7 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
34 deafness, autosomal dominant 48 8.7 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
35 autosomal dominant non-syndromic sensorineural deafness type dfna 8.4 GJB2 MYH14 MYH9 MYO1A MYO6 MYO7A
36 autosomal dominant nonsyndromic deafness 8.4 GJB2 MYH14 MYH9 MYO1A MYO6 MYO7A
37 sensorineural hearing loss 8.2 GJB2 MYH9 MYO15A MYO6 MYO7A SLC26A4
38 auditory system disease 8.1 GJB2 MT-RNR1 MYH9 MYO15A MYO7A SLC26A4
39 autosomal recessive nonsyndromic deafness 3 7.9 GJB2 MYH14 MYH9 MYO15A MYO1A MYO3A
40 autosomal recessive non-syndromic sensorineural deafness type dfnb 7.8 ESPN GJB2 MYH9 MYO15A MYO3A MYO6
41 nonsyndromic deafness 7.0 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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, sensorineural, progressive (moderate to severe)


Clinical features from OMIM:

607101

Human phenotypes related to Deafness, Autosomal Recessive 30:

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

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 30:

43
# 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 MYO3A MYO3B MYO6 MYO7A SLC26A4 TMC1

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 28 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
Identification of a novel homozygous mutation in MYO3A in a Chinese family with DFNB30 non-syndromic hearing impairment. ( 27063751 )
2016
2
From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. ( 12032315 )
2002

Variations for Deafness, Autosomal Recessive 30

ClinVar genetic disease variations for Deafness, Autosomal Recessive 30:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO3A NM_017433.4(MYO3A): c.3129T> G (p.Tyr1043Ter) single nucleotide variant Pathogenic rs193919333 GRCh37 Chromosome 10, 26457658: 26457658
2 MYO3A MYO3A, IVS17, G-A, -12 single nucleotide variant Pathogenic
3 MYO3A MYO3A, IVS7, A-G, -2 single nucleotide variant Pathogenic
4 MYO3A NM_017433.4(MYO3A): c.3447_3448delAA (p.Arg1150Ilefs) deletion Pathogenic rs886042860 GRCh37 Chromosome 10, 26462640: 26462641
5 MYO3A NM_017433.4(MYO3A): c.2506-1G> A single nucleotide variant Pathogenic rs201023600 GRCh37 Chromosome 10, 26436358: 26436358

Expression for Deafness, Autosomal Recessive 30

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

Pathways for Deafness, Autosomal Recessive 30

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 stereocilium bundle GO:0032421 9.48 ESPN MYO15A
8 actomyosin GO:0042641 9.46 MYH14 MYH9
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 9.8 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 9.67 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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