MCID: DFN183
MIFTS: 29

Deafness, Autosomal Recessive 83

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

Aliases & Classifications for Deafness, Autosomal Recessive 83

MalaCards integrated aliases for Deafness, Autosomal Recessive 83:

Name: Deafness, Autosomal Recessive 83 54 13 69
Autosomal Recessive Nonsyndromic Deafness 83 12 14
Autosomal Recessive Deafness 83 12
Dfnb83 12

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
based on one consanguineous palestinian family (last curated august 2015)


Classifications:



External Ids:

OMIM 54 613685
Disease Ontology 12 DOID:0110528
ICD10 33 H90.3

Summaries for Deafness, Autosomal Recessive 83

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2.

MalaCards based summary : Deafness, Autosomal Recessive 83, also known as autosomal recessive nonsyndromic deafness 83, is related to autosomal dominant nonsyndromic deafness 20 and cat eye syndrome. An important gene associated with Deafness, Autosomal Recessive 83 is DFNB83 (Deafness, Autosomal Recessive 83). Related phenotypes are behavior/neurological and hearing/vestibular/ear

Description from OMIM: 613685

Related Diseases for Deafness, Autosomal Recessive 83

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

(show all 43)
id Related Disease Score Top Affiliating Genes
1 autosomal dominant nonsyndromic deafness 20 10.5 TMPRSS3 TMPRSS4
2 cat eye syndrome 10.5 TMPRSS3 TMPRSS4
3 atrial fibrillation, familial, 14 10.4 TMPRSS3 TMPRSS4
4 birk-landau-perez syndrome 10.4 TMPRSS3 TMPRSS4
5 pigmented nodular adrenocortical disease, primary, 2 10.3 OTOF PJVK
6 deafness, autosomal dominant 2a 10.3 TMPRSS3 TMPRSS4
7 developmental dysplasia of the hip 1 10.3 OTOF PJVK
8 psoriatic arthritis 10.2 LHFPL5 PJVK
9 preterm premature rupture of the membranes 10.2 MYO15A MYO7A
10 fundus albipunctatus 10.2 MYO15A MYO7A
11 diabetes persistent mullerian ducts 10.1 MYO7A OTOF
12 deafness, autosomal recessive 37 10.1 MYO15A MYO7A
13 ullrich congenital muscular dystrophy 2 10.1 MYO15A MYO7A
14 macrothrombocytopenia and progressive sensorineural deafness 10.1 MYO15A MYO7A
15 amelogenesis imperfecta, type ig 10.1 CDH23 MYO7A
16 deafness, autosomal recessive 12 10.0 CDH23 MYO7A
17 fascioliasis 10.0 MYO15A SLC26A4
18 deafness, autosomal recessive 10.0 LHFPL5 OTOF PJVK
19 deafness, autosomal recessive 18a 9.9 CDH23 MYO7A
20 deafness, autosomal dominant 11 9.9 MYO15A MYO7A OTOF
21 asthma-related traits 8 9.8 CDH23 MYO7A
22 retinitis pigmentosa 61 9.8 CDH23 MYO7A
23 usher syndrome type 1h 9.8 CDH23 MYO7A
24 trichohepatoenteric syndrome 1 9.7 CDH23 MYO7A
25 orofacial cleft 9.7 GPSM2 MYO15A OTOF TMPRSS3
26 ausems wittebol-post hennekam syndrome 9.6 OTOF PJVK
27 leber congenital amaurosis 14 9.6 CDH23 OTOF SLC26A4
28 severe combined immunodeficiency, athabascan type 9.4 MYO15A MYO7A SLC26A4
29 nonsyndromic hydrocephalus, ccdc88c-related 9.4 MYO15A OTOA OTOF PJVK TMPRSS3
30 hyperphenylalaninemia, mild, non-bh4-deficient 9.3 CDH23 MYO7A SLC26A4
31 pituitary adenoma 9.3 CDH23 MYO7A SLC26A4
32 mixed lacrimal gland cancer 9.3 CDH23 MYO7A SLC26A4
33 dihydrolipoamide dehydrogenase deficiency 8.9 CDH23 MYO7A OTOF SLC26A4
34 microcephaly and chorioretinopathy, autosomal recessive, 3 8.7 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
35 deafness, autosomal recessive 53 8.7 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
36 autosomal recessive nonsyndromic deafness 8 8.6 CDH23 MYO15A MYO7A OTOF SLC26A4
37 endometritis 8.6 CDH23 MYO15A MYO7A OTOF SLC26A4
38 narcissistic personality disorder 8.3 CDH23 MYO15A MYO7A OTOF SLC26A4 TMPRSS3
39 congenital muscular dystrophy due to lmna mutation 8.3 CDH23 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
40 discrete papular lichen myxedematosus 6.4 CDH23 GPSM2 LHFPL5 MYO15A MYO7A OTOA
41 autosomal recessive nonsyndromic deafness 6.3 CDH23 GPSM2 LHFPL5 MYO15A MYO7A OTOA
42 ectodermal dysplasia 6, hair/nail type 6.0 CDH23 GPSM2 LHFPL5 MYO15A MYO7A OTOA
43 bifid nose with or without anorectal and renal anomalies 5.7 CDH23 DFNB83 GPSM2 LHFPL5 MYO15A MYO7A

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 83:



Diseases related to Deafness, Autosomal Recessive 83

Symptoms & Phenotypes for Deafness, Autosomal Recessive 83

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
hearing loss, prelingual bilateral


Clinical features from OMIM:

613685

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 83:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 CDH23 GPSM2 LHFPL5 MYO15A MYO7A OTOF
2 hearing/vestibular/ear MP:0005377 9.65 OTOF PTPRQ SLC26A4 TMPRSS3 CDH23 GPSM2
3 nervous system MP:0003631 9.32 CDH23 GPSM2 LHFPL5 MYO15A MYO7A OTOA

Drugs & Therapeutics for Deafness, Autosomal Recessive 83

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 83

Genetic Tests for Deafness, Autosomal Recessive 83

Anatomical Context for Deafness, Autosomal Recessive 83

Publications for Deafness, Autosomal Recessive 83

Variations for Deafness, Autosomal Recessive 83

Expression for Deafness, Autosomal Recessive 83

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 83.

Pathways for Deafness, Autosomal Recessive 83

GO Terms for Deafness, Autosomal Recessive 83

Cellular components related to Deafness, Autosomal Recessive 83 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.46 LHFPL5 MYO7A OTOA SLC26A4
2 stereocilium GO:0032420 9.13 CDH23 MYO15A MYO7A
3 stereocilium bundle GO:0032421 8.8 LHFPL5 MYO15A PTPRQ

Biological processes related to Deafness, Autosomal Recessive 83 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 inner ear receptor stereocilium organization GO:0060122 9.4 CDH23 MYO7A
2 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.37 LHFPL5 PTPRQ
3 inner ear morphogenesis GO:0042472 9.33 MYO15A MYO7A PTPRQ
4 sensory perception of light stimulus GO:0050953 9.32 CDH23 MYO7A
5 auditory receptor cell stereocilium organization GO:0060088 9.26 LHFPL5 MYO7A
6 sensory perception of sound GO:0007605 9.23 CDH23 LHFPL5 MYO15A MYO7A OTOA OTOF
7 equilibrioception GO:0050957 8.96 CDH23 MYO7A

Molecular functions related to Deafness, Autosomal Recessive 83 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 scavenger receptor activity GO:0005044 8.62 TMPRSS3 TMPRSS4

Sources for Deafness, Autosomal Recessive 83

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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