MCID: ATS006
MIFTS: 29

Autosomal Recessive Nonsyndromic Deafness

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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 ) 41

Classifications:



External Ids:

Disease Ontology 12 DOID:0050565
ICD10 34 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 37. 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 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 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 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 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 32 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:

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 21 33.1 GJB2 OTOG
2 deafness, autosomal recessive 37 33.1 MYO15A TRIOBP
3 deafness, autosomal recessive 28 33.1 GJB2 TRIOBP
4 deafness, autosomal recessive 8 33.0 TFF1 TMPRSS3
5 deafness, autosomal recessive 59 33.0 GJB2 OTOF
6 deafness, autosomal recessive 9 32.9 GJB2 OTOF
7 deafness, autosomal recessive 1a 32.9 GJB2 OTOF
8 deafness, autosomal recessive 7 32.8 GJB2 TMC1
9 deafness, autosomal recessive 12 32.7 CDH23 GJB2
10 deafness, autosomal recessive 67 32.7 GJB2 LRTOMT
11 deafness, autosomal recessive 2 32.7 GJB2 MYO15A OTOF
12 autosomal recessive nonsyndromic deafness 3 32.5 CDH23 GJB2 MYO15A OTOF SLC26A4
13 deafness, autosomal recessive 23 32.1 CDH23 GJB2 SLC26A4
14 deafness, autosomal recessive 30 31.9 GJB2 MYO15A SLC26A4 TMC1
15 deafness, autosomal recessive 26 31.8 CDH23 GJB2 OTOF SLC26A4
16 deafness, autosomal recessive 16 31.7 GJB2 OTOF SLC26A4 TMPRSS3
17 deafness, autosomal recessive 85 31.2 CDH23 GPSM2 MYO15A OTOF SLC26A4 TMPRSS3
18 deafness, autosomal recessive 83 31.2 CDH23 GPSM2 MYO15A OTOF SLC26A4 TMPRSS3
19 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 31.1 CDH23 GJB2 OTOF SLC26A4
20 nonsyndromic deafness 26.7 CDH23 ELMOD3 GIPC3 GJB2 GPSM2 LRTOMT
21 autosomal recessive nonsyndromic deafness 32 12.5
22 autosomal recessive nonsyndromic deafness 36 12.5
23 autosomal recessive nonsyndromic deafness 86 12.5
24 autosomal recessive nonsyndromic deafness 106 12.3
25 autosomal recessive nonsyndromic deafness 107 12.3
26 autosomal recessive nonsyndromic deafness 108 12.3
27 deafness, autosomal recessive 15 12.1
28 deafness, autosomal recessive 46 12.1
29 deafness, autosomal recessive 63 12.1
30 deafness, autosomal recessive 98 11.9
31 deafness, autosomal recessive 5 11.9
32 deafness, autosomal recessive 6 11.9
33 deafness, autosomal recessive 17 11.9
34 deafness, autosomal recessive 13 11.9
35 deafness, autosomal recessive 20 11.9
36 deafness, autosomal recessive 27 11.9
37 deafness, autosomal recessive 22 11.9
38 deafness, autosomal recessive 33 11.9
39 deafness, autosomal recessive 39 11.9
40 deafness, autosomal recessive 35 11.9
41 deafness, autosomal recessive 48 11.9
42 deafness, autosomal recessive 42 11.9
43 deafness, autosomal recessive 53 11.9
44 deafness, autosomal recessive 51 11.9
45 deafness, autosomal recessive 47 11.9
46 deafness, autosomal recessive 49 11.9
47 deafness, autosomal recessive 44 11.9
48 deafness, autosomal recessive 66 11.9
49 deafness, autosomal recessive 65 11.9
50 deafness, autosomal recessive 68 11.9

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:

47
# 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 CDH23 GIPC3 GJB2 GPSM2 LRTOMT MYO15A

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:

# Title Authors Year
1
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. ( 26226137 )
2016
2
CORRIGENDUM: Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. ( 27494218 )
2016
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:

# Name GO ID Score Top Affiliating Genes
1 stereocilium GO:0032420 8.8 CDH23 ELMOD3 MYO15A

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

# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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