MCID: DFN203
MIFTS: 39

Deafness, Autosomal Recessive 30

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

Aliases & Classifications for Deafness, Autosomal Recessive 30

MalaCards integrated aliases for Deafness, Autosomal Recessive 30:

Name: Deafness, Autosomal Recessive 30 54 29 13 69
Autosomal Recessive Nonsyndromic Deafness 30 12 14
Dfnb30 12 71
Deafness, Autosomal Recessive, 30 71
Autosomal Recessive Deafness 30 12

Characteristics:

OMIM:

54
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:

32
deafness, autosomal recessive 30:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 607101
Disease Ontology 12 DOID:0110489
ICD10 33 H90.3
MedGen 40 C1846784
MeSH 42 D003638
SNOMED-CT via HPO 65 258211005

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 autosomal recessive nonsyndromic deafness 30, is related to dfnb30 nonsyndromic hearing loss and deafness and seizures, cortical blindness, microcephaly syndrome, and has symptoms including progressive hearing impairment and progressive sensorineural 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 Integrin 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 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 Deafness, Autosomal Recessive 30 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
id Related Disease Score Top Affiliating Genes
1 dfnb30 nonsyndromic hearing loss and deafness 11.8
2 seizures, cortical blindness, microcephaly syndrome 10.5 MYO1A MYO3A
3 congenital disorder of glycosylation with developmental anomaly 10.0 GJB2 MT-RNR1
4 psoriatic arthritis 10.0 ESPN GJB2
5 leber congenital amaurosis 14 10.0 GJB2 SLC26A4
6 autosomal dominant nonsyndromic deafness 69 9.9 ESPN MYH14
7 ausems wittebol-post hennekam syndrome 9.9 GJB2 MT-RNR1
8 diabetes persistent mullerian ducts 9.8 GJB2 MYO7A
9 orofacial cleft 9.8 GJB2 MYO15A TMC1
10 deafness, autosomal dominant 36 9.8 GJB2 MT-RNR1 TMC1
11 robinow syndrome, autosomal dominant 1 9.8 GJB2 MYO7A
12 viral laryngitis 9.7 GJB2 SLC26A4
13 bifid nose with or without anorectal and renal anomalies 9.6 MYO15A MYO7A SLC26A4
14 ectodermal dysplasia 6, hair/nail type 9.6 MYO15A MYO7A SLC26A4
15 preterm premature rupture of the membranes 9.6 MYO15A MYO1A MYO6 MYO7A
16 fibrosis of extraocular muscles, congenital, 2 9.6 GJB2 MYO7A TMC1
17 nonsyndromic hydrocephalus, ccdc88c-related 9.6 GJB2 MYO15A MYO6 TMC1
18 x-linked nonsyndromic deafness 9.5 MYH14 MYO6 MYO7A TMC1
19 hyperphenylalaninemia, mild, non-bh4-deficient 9.5 GJB2 MYO7A SLC26A4
20 microcephaly and chorioretinopathy, autosomal recessive, 3 9.5 GJB2 MYO7A SLC26A4
21 pituitary adenoma 9.5 GJB2 MYO7A SLC26A4
22 deafness, autosomal recessive 53 9.4 GJB2 MYO7A SLC26A4
23 dihydrolipoamide dehydrogenase deficiency 9.4 GJB2 MYO7A SLC26A4
24 cataract 26, multiple types 9.3 GJB2 MT-RNR1 SLC26A4 TMC1
25 congenital muscular dystrophy due to lmna mutation 9.2 GJB2 MYH14 MYO7A SLC26A4
26 deafness, autosomal dominant 11 9.1 GJB2 MYO15A MYO1A MYO6 MYO7A
27 fascioliasis 8.9 GJB2 MT-RNR1 MYO15A SLC26A4 TMC1
28 mixed lacrimal gland cancer 8.3 GJB2 MT-RNR1 MYH9 MYO7A SLC26A4
29 deafness, autosomal recessive 37 8.2 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
30 ullrich congenital muscular dystrophy 2 8.2 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
31 fundus albipunctatus 8.2 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
32 macrothrombocytopenia and progressive sensorineural deafness 8.2 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
33 nodular lichen myxedematosus 7.9 GJB2 MYH14 MYH9 MYO1A MYO6 MYO7A
34 endometritis 7.6 GJB2 MYH9 MYO15A MYO6 MYO7A SLC26A4
35 narcissistic personality disorder 7.5 GJB2 MT-RNR1 MYH9 MYO15A MYO7A SLC26A4
36 autosomal recessive nonsyndromic deafness 8 7.2 GJB2 MYH14 MYH9 MYO15A MYO1A MYO3A
37 discrete papular lichen myxedematosus 7.0 ESPN GJB2 MYH9 MYO15A MYO3A MYO6
38 autosomal recessive nonsyndromic deafness 6.3 ESPN GJB2 MT-RNR1 MYH14 MYH9 MYO15A
39 severe combined immunodeficiency, athabascan type 5.7 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

Symptoms via clinical synopsis from OMIM:

54

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


Clinical features from OMIM:

607101

Human phenotypes related to Deafness, Autosomal Recessive 30:

32
id Description HPO Frequency HPO Source Accession
1 progressive hearing impairment 32 HP:0001730
2 progressive sensorineural hearing impairment 32 HP:0000408

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 30:

44
id 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 MYO3A MYO6 MYO7A SLC26A4 TMC1 ESPN
3 nervous system MP:0003631 9.36 ESPN GJB2 MYH14 MYH9 MYO15A MYO3A

Drugs & Therapeutics for Deafness, Autosomal Recessive 30

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Deafness, Autosomal Recessive 30

Genetic Tests for Deafness, Autosomal Recessive 30

Genetic tests related to Deafness, Autosomal Recessive 30:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 30 29

Anatomical Context for Deafness, Autosomal Recessive 30

Publications for Deafness, Autosomal Recessive 30

Variations for Deafness, Autosomal Recessive 30

ClinVar genetic disease variations for Deafness, Autosomal Recessive 30:

6
id 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 13)
id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.97 ESPN MYH9 MYO15A MYO3A MYO3B MYO7A
2 cell cortex GO:0005938 9.69 MYH9 MYO6 MYO7A
3 microvillus GO:0005902 9.62 ESPN MYO1A MYO6 MYO7A
4 brush border GO:0005903 9.56 ESPN MYH14 MYH9 MYO1A
5 stereocilium GO:0032420 9.54 ESPN MYO15A MYO7A
6 actomyosin GO:0042641 9.48 MYH14 MYH9
7 stereocilium bundle GO:0032421 9.46 ESPN MYO15A
8 filamentous actin GO:0031941 9.46 ESPN MYO1A MYO3A MYO6
9 myosin II complex GO:0016460 9.43 MYH14 MYH9
10 myosin II filament GO:0097513 9.4 MYH14 MYH9
11 myosin complex GO:0016459 9.23 MYH14 MYH9 MYO15A MYO1A MYO3A MYO3B
12 stereocilium tip GO:0032426 8.96 ESPN TMC1
13 cytoplasm GO:0005737 10.22 ESPN GJB2 MYH14 MYH9 MYO15A MYO1A

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

id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.43 MYO3A MYO3B MYO7A
2 sensory perception of sound GO:0007605 9.32 ESPN GJB2 MYH14 MYO15A MYO1A MYO3A
3 actin filament-based movement GO:0030048 9.26 MYH14 MYH9 MYO6 MYO7A
4 actomyosin structure organization GO:0031032 9.16 MYH14 MYH9

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

id 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
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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