MCID: ATS006
MIFTS: 29

Autosomal Recessive Nonsyndromic Deafness

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

Aliases & Classifications for Autosomal Recessive Nonsyndromic Deafness

MalaCards integrated aliases for Autosomal Recessive Nonsyndromic Deafness:

Name: Autosomal Recessive Nonsyndromic Deafness 12 15
Deafness, Autosomal Recessive, Nonsyndromic ) 40

Classifications:



External Ids:

Disease Ontology 12 DOID:0050565
ICD10 33 H90.3

Summaries for Autosomal Recessive Nonsyndromic Deafness

Disease Ontology : 12 A nonsyndromic deafness characterized by an autosomal recessive inheritance mode.

MalaCards based summary : Autosomal Recessive Nonsyndromic Deafness, also known as deafness, autosomal recessive, nonsyndromic ), is related to deafness, autosomal recessive 21 and deafness, autosomal recessive 28. An important gene associated with Autosomal Recessive Nonsyndromic Deafness is OTOG (Otogelin). Related phenotypes are behavior/neurological and hearing/vestibular/ear

Related Diseases for Autosomal Recessive Nonsyndromic Deafness

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

(showing 102, show less)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 21 33.1 GJB2 OTOG
2 deafness, autosomal recessive 28 33.1 GJB2 TRIOBP
3 deafness, autosomal recessive 37 33.1 MYO15A TRIOBP
4 deafness, autosomal recessive 59 32.8 GJB2 OTOF
5 deafness, autosomal recessive 9 32.8 GJB2 OTOF
6 deafness, autosomal recessive 1a 32.7 GJB2 OTOF
7 deafness, autosomal recessive 7 32.6 GJB2 TMC1
8 deafness, autosomal recessive 8 32.6 TFF1 TMPRSS3
9 deafness, autosomal recessive 12 32.3 CDH23 GJB2
10 deafness, autosomal recessive 67 32.3 GJB2 LRTOMT
11 deafness, autosomal recessive 2 32.2 GJB2 MYO15A OTOF
12 deafness, autosomal recessive 23 31.2 CDH23 GJB2 SLC26A4
13 autosomal recessive nonsyndromic deafness 3 30.9 CDH23 GJB2 MYO15A OTOF SLC26A4
14 deafness, autosomal recessive 30 30.7 GJB2 MYO15A SLC26A4 TMC1
15 deafness, autosomal recessive 26 30.6 CDH23 GJB2 OTOF SLC26A4
16 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 30.6 CDH23 GJB2 OTOF SLC26A4
17 deafness, autosomal recessive 16 30.4 GJB2 OTOF SLC26A4 TMPRSS3
18 deafness, autosomal recessive 85 29.3 CDH23 GPSM2 MYO15A OTOF SLC26A4 TMPRSS3
19 deafness, autosomal recessive 83 29.3 CDH23 GPSM2 MYO15A OTOF SLC26A4 TMPRSS3
20 nonsyndromic deafness 22.2 CDH23 ELMOD3 GIPC3 GJB2 GPSM2 LRTOMT
21 autosomal recessive nonsyndromic deafness 36 12.3
22 autosomal recessive nonsyndromic deafness 86 12.3
23 autosomal recessive nonsyndromic deafness 106 12.1
24 autosomal recessive nonsyndromic deafness 107 12.1
25 autosomal recessive nonsyndromic deafness 108 12.1
26 deafness, autosomal recessive 98 11.7
27 deafness, autosomal recessive 5 11.7
28 deafness, autosomal recessive 6 11.7
29 deafness, autosomal recessive 15 11.7
30 deafness, autosomal recessive 17 11.7
31 deafness, autosomal recessive 13 11.7
32 deafness, autosomal recessive 20 11.7
33 deafness, autosomal recessive 27 11.7
34 deafness, autosomal recessive 22 11.7
35 deafness, autosomal recessive 33 11.7
36 deafness, autosomal recessive 39 11.7
37 deafness, autosomal recessive 35 11.7
38 deafness, autosomal recessive 32 11.7
39 deafness, autosomal recessive 48 11.7
40 deafness, autosomal recessive 42 11.7
41 deafness, autosomal recessive 46 11.7
42 deafness, autosomal recessive 53 11.7
43 deafness, autosomal recessive 51 11.7
44 deafness, autosomal recessive 47 11.7
45 deafness, autosomal recessive 49 11.7
46 deafness, autosomal recessive 44 11.7
47 deafness, autosomal recessive 66 11.7
48 deafness, autosomal recessive 65 11.7
49 deafness, autosomal recessive 68 11.7
50 deafness, autosomal recessive 24 11.7
51 deafness, autosomal recessive 63 11.7
52 deafness, autosomal recessive 77 11.7
53 deafness, autosomal recessive 25 11.7
54 deafness, autosomal recessive 79 11.7
55 deafness, autosomal recessive 84a 11.7
56 deafness, autosomal recessive 91 11.7
57 deafness, autosomal recessive 74 11.7
58 deafness, autosomal recessive 61 11.7
59 deafness, autosomal recessive 89 11.7
60 deafness, autosomal recessive 29 11.7
61 deafness, autosomal recessive 96 11.7
62 deafness, autosomal recessive 93 11.7
63 deafness, autosomal recessive 18b 11.7
64 deafness, autosomal recessive 88 11.7
65 deafness, autosomal recessive 101 11.7
66 deafness, autosomal recessive 97 11.7
67 deafness, autosomal recessive 18a 11.6
68 deafness, autosomal recessive 14 11.6
69 deafness, autosomal recessive 31 11.6
70 deafness, autosomal recessive 38 11.6
71 deafness, autosomal recessive 40 11.6
72 deafness, autosomal recessive 55 11.6
73 deafness, autosomal recessive 62 11.6
74 deafness, autosomal recessive 45 11.6
75 deafness, autosomal recessive 1b 11.6
76 deafness, autosomal recessive 71 11.6
77 deafness, autosomal recessive 70 11.6
78 deafness, autosomal recessive 84b 11.6
79 deafness, autosomal recessive 76 11.6
80 deafness, autosomal recessive 102 11.6
81 deafness, autosomal recessive 103 11.6
82 deafness, autosomal recessive 104 11.6
83 deafness, autosomal recessive 105 11.6
84 deafness, autosomal recessive 3 10.2 GJB2 MYO15A
85 auditory neuropathy, autosomal dominant, 1 10.2 GJB2 OTOF
86 dfnb1 10.2 GJB2 OTOF
87 deafness, autosomal dominant 2a 9.6 GJB2 TMPRSS3
88 autosomal dominant nonsyndromic deafness 9.5 GJB2 OTOF OTOG TMC1
89 vestibular disease 9.5 GJB2 SLC26A4
90 ear malformation 9.4 GJB2 SLC26A4
91 autosomal dominant non-syndromic sensorineural deafness type dfna 9.4 GJB2 TMC1
92 deafness, autosomal dominant 36 9.2 GJB2 SLC26A4 TMC1
93 inner ear disease 9.1 CDH23 GJB2 SLC26A4
94 deafness, autosomal recessive 9.0 ELMOD3 GIPC3 GJB2 LRTOMT OTOF PNPT1
95 hodgkin's lymphoma, nodular sclerosis 8.8 GJB2 MYO15A SLC26A4 TMC1
96 trehalase deficiency 8.5 CDH23 GJB2 LRTOMT MYO15A TMPRSS3
97 deafness, autosomal dominant 13 8.4 GJB2 OTOF OTOG SLC26A4 TMPRSS3
98 deafness, autosomal dominant 6 8.0 CDH23 GJB2 OTOF SLC26A4 TMPRSS3
99 non-syndromic genetic deafness 7.7 GIPC3 GJB2 MYO15A OTOF OTOG TMC1
100 sensorineural hearing loss 7.4 CDH23 GIPC3 GJB2 MYO15A OTOF SLC26A4
101 auditory system disease 7.0 CDH23 GJB2 MYO15A OTOF SLC26A4 TMC1
102 autosomal recessive non-syndromic sensorineural deafness type dfnb 4.8 CDH23 ELMOD3 GIPC3 GJB2 GPSM2 LRTOMT

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



Diseases related to Autosomal Recessive Nonsyndromic Deafness

Symptoms & Phenotypes for Autosomal Recessive Nonsyndromic Deafness

MGI Mouse Phenotypes related to Autosomal Recessive Nonsyndromic Deafness:

46 (showing 3, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 CDH23 GIPC3 GPSM2 LRTOMT MYO15A OTOF
2 hearing/vestibular/ear MP:0005377 9.73 CDH23 GIPC3 GJB2 GPSM2 LRTOMT MYO15A
3 nervous system MP:0003631 9.4 GPSM2 LRTOMT MYO15A OTOF OTOG SLC26A4

Drugs & Therapeutics for Autosomal Recessive Nonsyndromic Deafness

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

Genetic Tests for Autosomal Recessive Nonsyndromic Deafness

Anatomical Context for Autosomal Recessive Nonsyndromic Deafness

Publications for Autosomal Recessive Nonsyndromic Deafness

Articles related to Autosomal Recessive Nonsyndromic Deafness:

(showing 8, show less)
# Title Authors Year
1
CORRIGENDUM: Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. ( 27494218 )
2016
2
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. ( 26226137 )
2015
3
Autosomal recessive nonsyndromic deafness genes: a review. ( 22652773 )
2012
4
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. ( 17066295 )
2007
5
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. ( 17690910 )
2007
6
Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31. ( 15637723 )
2005
7
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region. ( 10950923 )
2000
8
Mapping of the otogelin gene (OTGN) to mouse chromosome 7 and human chromosome 11p14.3: a candidate for human autosomal recessive nonsyndromic deafness DFNB18. ( 10337628 )
1999

Variations for Autosomal Recessive Nonsyndromic Deafness

Expression for Autosomal Recessive Nonsyndromic Deafness

Search GEO for disease gene expression data for Autosomal Recessive Nonsyndromic Deafness.

Pathways for Autosomal Recessive Nonsyndromic Deafness

GO Terms for Autosomal Recessive Nonsyndromic Deafness

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

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 stereocilium GO:0032420 8.92 CDH23 ELMOD3 MYO15A TRIOBP

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

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.32 CDH23 GJB2 LRTOMT MYO15A OTOF OTOG
2 auditory receptor cell development GO:0060117 8.96 LRTOMT TMC1

Sources for Autosomal Recessive Nonsyndromic Deafness

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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