MCID: ATS006
MIFTS: 27

Autosomal Recessive Nonsyndromic Deafness

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

Aliases & Classifications for Autosomal Recessive Nonsyndromic Deafness

MalaCards integrated aliases for Autosomal Recessive Nonsyndromic Deafness:

Name: Autosomal Recessive Nonsyndromic Deafness 12 14

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 is related to autosomal recessive nonsyndromic deafness 8 and deafness, autosomal recessive 9. An important gene associated with Autosomal Recessive Nonsyndromic Deafness is OTOG (Otogelin), and among its related pathways/superpathways is FOXA1 transcription factor network. Related phenotypes are behavior/neurological and hearing/vestibular/ear

Related Diseases for Autosomal Recessive Nonsyndromic Deafness

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

(show top 50) (show all 107)
id Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 8 32.3 GJB2 MYO15A OTOF
2 deafness, autosomal recessive 9 32.0 GJB2 OTOF
3 deafness, autosomal recessive 53 31.1 GJB2 OTOF OTOG TMPRSS3
4 autosomal recessive nonsyndromic deafness 3 12.2
5 autosomal recessive nonsyndromic deafness 47 12.2
6 deafness, autosomal recessive 98 11.6
7 deafness, autosomal recessive 33 11.6
8 deafness, autosomal recessive 88 11.6
9 deafness, autosomal recessive 37 11.6
10 deafness, autosomal recessive 30 11.6
11 deafness, autosomal recessive 65 11.6
12 deafness, autosomal recessive 27 11.6
13 deafness, autosomal recessive 12 11.6
14 deafness, autosomal recessive 1a 11.6
15 deafness, autosomal recessive 29 11.6
16 deafness, autosomal recessive 59 11.6
17 deafness, autosomal recessive 44 11.6
18 deafness, autosomal recessive 23 11.6
19 deafness, autosomal recessive 6 11.6
20 deafness, autosomal recessive 39 11.6
21 deafness, autosomal recessive 5 11.6
22 deafness, autosomal recessive 42 11.6
23 deafness, autosomal recessive 61 11.6
24 deafness, autosomal recessive 18b 11.6
25 deafness, autosomal recessive 35 11.6
26 deafness, autosomal recessive 28 11.6
27 deafness, autosomal recessive 25 11.6
28 deafness, autosomal recessive 51 11.6
29 deafness, autosomal recessive 16 11.6
30 deafness, autosomal recessive 17 11.6
31 deafness, autosomal recessive 93 11.6
32 deafness, autosomal recessive 48 11.6
33 deafness, autosomal recessive 26 11.6
34 deafness, autosomal recessive 97 11.6
35 deafness, autosomal recessive 63 11.6
36 deafness , autosomal recessive 86 11.6
37 deafness, autosomal recessive 49 11.6
38 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 11.6
39 deafness, autosomal recessive 2 11.6
40 deafness, autosomal recessive 22 11.6
41 deafness, autosomal recessive 96 11.6
42 deafness, autosomal recessive 101 11.6
43 deafness, autosomal recessive 13 11.6
44 deafness, autosomal recessive 21 11.6
45 deafness, autosomal recessive 89 11.6
46 deafness, autosomal recessive 36 11.6
47 deafness, autosomal recessive 91 11.6
48 deafness, autosomal recessive 24 11.6
49 deafness, autosomal recessive 85 11.6
50 deafness, autosomal recessive 32 11.6

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 ABCG1 GIPC3 GPSM2 LRTOMT MYO15A OTOF
2 hearing/vestibular/ear MP:0005377 9.65 GIPC3 GJB2 GPSM2 LRTOMT MYO15A OTOF
3 nervous system MP:0003631 9.32 TMPRSS3 TRIOBP GIPC3 GJB2 GPSM2 LRTOMT

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:

id 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

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.29 NDUFV3 TFF1

GO Terms for Autosomal Recessive Nonsyndromic Deafness

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

id Name GO ID Score Top Affiliating Genes
1 stereocilium GO:0032420 8.62 ELMOD3 MYO15A

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

id Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.17 GJB2 LRTOMT MYO15A OTOF OTOG TMC1
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
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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