MCID: DFN183
MIFTS: 32

Deafness, Autosomal Recessive 83

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

Aliases & Classifications for Deafness, Autosomal Recessive 83

MalaCards integrated aliases for Deafness, Autosomal Recessive 83:

Name: Deafness, Autosomal Recessive 83 57 13 73
Autosomal Recessive Nonsyndromic Deafness 83 12 15
Dfnb83 57 12
Autosomal Recessive Deafness 83 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
deafness, autosomal recessive 83:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613685
Disease Ontology 12 DOID:0110528
ICD10 33 H90.3
MedGen 42 C3888310
SNOMED-CT via HPO 69 258211005
UMLS 73 C3888310

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 deafness, autosomal recessive and deafness, autosomal recessive 59. 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 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 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 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 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 83 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 30.5 DFNB83 LHFPL5 OTOA OTOF PJVK PTPRQ
2 deafness, autosomal recessive 59 10.5 OTOF PJVK
3 auditory neuropathy, autosomal dominant, 1 10.5 OTOF PJVK
4 deafness, autosomal recessive 9 10.5 OTOF PJVK
5 deafness, autosomal recessive 98 10.4 TMPRSS3 TMPRSS4
6 deafness, autosomal recessive 8 10.4 TMPRSS3 TMPRSS4
7 deafness, autosomal recessive 67 10.4 LHFPL5 PJVK
8 deafness, autosomal recessive 24 10.3 TMPRSS3 TMPRSS4
9 hodgkin's lymphoma, nodular sclerosis 10.3 MYO15A SLC26A4
10 deafness, autosomal recessive 25 10.3 TMPRSS3 TMPRSS4
11 deafness, autosomal dominant 2a 10.2 TMPRSS3 TMPRSS4
12 deafness, autosomal recessive 3 10.0 MYO15A MYO7A
13 deafness, autosomal dominant 11 9.9 MYO15A MYO7A
14 dfnb1 9.9 MYO7A OTOF
15 deafness, autosomal dominant 48 9.9 MYO15A MYO7A
16 deafness, autosomal dominant 22 9.8 MYO15A MYO7A
17 deafness, autosomal recessive 37 9.8 MYO15A MYO7A
18 usher syndrome, type ig 9.8 CDH23 MYO7A
19 retinitis pigmentosa-deafness syndrome 9.8 CDH23 MYO7A
20 usher syndrome, type if 9.8 CDH23 MYO7A
21 deafness, autosomal dominant 17 9.8 MYO15A MYO7A
22 deafness, autosomal recessive 26 9.7 CDH23 OTOF SLC26A4
23 usher syndrome, type ic 9.7 CDH23 MYO7A
24 usher syndrome, type id 9.7 CDH23 MYO7A
25 deafness, autosomal recessive 12 9.6 CDH23 MYO7A
26 auditory neuropathy spectrum disorder 9.6 MYO7A OTOF PJVK
27 autosomal dominant nonsyndromic deafness 9.6 MYO7A OTOF PJVK
28 deafness, autosomal recessive 2 9.5 MYO15A MYO7A OTOF
29 usher syndrome, type iid 9.5 CDH23 MYO7A
30 usher syndrome, type iiia 9.4 CDH23 MYO7A
31 non-syndromic genetic deafness 9.4 MYO15A OTOA OTOF PJVK TMPRSS3
32 deafness, autosomal recessive 30 9.4 MYO15A MYO7A SLC26A4
33 usher syndrome, type iic 9.2 CDH23 MYO7A
34 deafness, autosomal recessive 23 9.2 CDH23 MYO7A SLC26A4
35 inner ear disease 9.2 CDH23 MYO7A SLC26A4
36 usher syndrome type 2 9.0 CDH23 MYO7A
37 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 8.7 CDH23 MYO7A OTOF SLC26A4
38 trehalase deficiency 8.5 CDH23 MYO15A MYO7A TMPRSS3
39 deafness, autosomal recessive 16 8.4 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
40 deafness, autosomal dominant 13 8.4 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
41 sensorineural hearing loss 8.3 CDH23 MYO15A MYO7A OTOF SLC26A4
42 autosomal recessive nonsyndromic deafness 8.1 CDH23 GPSM2 MYO15A OTOF SLC26A4 TMPRSS3
43 autosomal recessive nonsyndromic deafness 3 7.9 CDH23 MYO15A MYO7A OTOF PJVK SLC26A4
44 deafness, autosomal dominant 6 7.8 CDH23 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
45 auditory system disease 7.4 CDH23 MYO15A MYO7A OTOF SLC26A4 TMPRSS3
46 autosomal recessive non-syndromic sensorineural deafness type dfnb 5.8 CDH23 GPSM2 LHFPL5 MYO15A MYO7A OTOA
47 deafness, autosomal recessive 85 5.2 CDH23 GPSM2 LHFPL5 MYO15A MYO7A OTOA
48 nonsyndromic deafness 5.2 CDH23 GPSM2 LHFPL5 MYO15A MYO7A OTOA

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:

57
Head And Neck Ears:
hearing loss, prelingual bilateral


Clinical features from OMIM:

613685

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 83:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 CDH23 GPSM2 LHFPL5 MYO15A MYO7A OTOF
2 hearing/vestibular/ear MP:0005377 9.7 CDH23 GPSM2 LHFPL5 MYO15A MYO7A OTOA
3 nervous system MP:0003631 9.36 MYO7A OTOA OTOF PJVK PTPRQ SLC26A4

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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 inner ear receptor cell stereocilium organization GO:0060122 9.4 CDH23 MYO7A
2 auditory receptor cell stereocilium organization GO:0060088 9.37 LHFPL5 MYO7A
3 inner ear morphogenesis GO:0042472 9.33 MYO15A MYO7A PTPRQ
4 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.32 LHFPL5 PTPRQ
5 sensory perception of sound GO:0007605 9.28 CDH23 LHFPL5 MYO15A MYO7A OTOA OTOF
6 sensory perception of light stimulus GO:0050953 9.26 CDH23 MYO7A
7 equilibrioception GO:0050957 8.96 CDH23 MYO7A

Sources for Deafness, Autosomal Recessive 83

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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