MCID: DFN280
MIFTS: 32

Deafness, Autosomal Recessive

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

Aliases & Classifications for Deafness, Autosomal Recessive

MalaCards integrated aliases for Deafness, Autosomal Recessive:

Name: Deafness, Autosomal Recessive 54 29

Classifications:



External Ids:

OMIM 54 607197

Summaries for Deafness, Autosomal Recessive

MalaCards based summary : Deafness, Autosomal Recessive is related to deafness, autosomal recessive 9 and deafness, autosomal recessive 53. An important gene associated with Deafness, Autosomal Recessive is GJB3 (Gap Junction Protein Beta 3). Related phenotypes are behavior/neurological and hearing/vestibular/ear

Description from OMIM: 607197

Related Diseases for Deafness, Autosomal Recessive

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 140)
id Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 9 33.3 GJB2 OTOF
2 deafness, autosomal recessive 53 32.4 GJB2 OTOF
3 autosomal recessive nonsyndromic deafness 24.4 CIB2 ESPN GIPC3 GJB2 GJB3 GRXCR1
4 deafness, autosomal recessive 8/10 12.1
5 deafness, autosomal recessive 15 12.1
6 deafness, autosomal recessive 12 12.1
7 deafness, autosomal recessive 42 12.1
8 deafness, autosomal recessive 39 12.1
9 deafness, autosomal recessive 37 12.1
10 deafness, autosomal recessive 84a 12.1
11 deafness, autosomal recessive 18a 12.1
12 deafness, autosomal recessive 1b 12.1
13 deafness, autosomal recessive 61 12.1
14 deafness, autosomal recessive 29 12.1
15 deafness, autosomal recessive 36 12.1
16 deafness, autosomal recessive 16 12.1
17 deafness, autosomal recessive 49 12.1
18 deafness, autosomal recessive 48 12.1
19 deafness, autosomal recessive 63 12.1
20 deafness, autosomal recessive 28 12.1
21 deafness, autosomal recessive 2 12.1
22 deafness, autosomal recessive 22 12.1
23 deafness, autosomal recessive 21 12.1
24 deafness, autosomal recessive 7 12.1
25 deafness, autosomal recessive 3 12.1
26 deafness, autosomal recessive 31 12.1
27 deafness, autosomal recessive 6 12.1
28 deafness, autosomal recessive 23 12.1
29 deafness, autosomal recessive 1a 12.1
30 deafness, autosomal recessive 93 12.1
31 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 12.1
32 deafness, autosomal recessive 91 12.1
33 deafness, autosomal recessive 79 12.1
34 deafness, autosomal recessive 77 12.1
35 deafness, autosomal recessive 25 12.0
36 deafness, autosomal recessive 18b 12.0
37 deafness, autosomal recessive 35 12.0
38 deafness, autosomal recessive 98 12.0
39 deafness, autosomal recessive 89 12.0
40 deafness, autosomal recessive 24 12.0
41 deafness, autosomal recessive 70 12.0
42 deafness, autosomal recessive 66 12.0
43 deafness, autosomal recessive 67 12.0
44 deafness, autosomal recessive 74 12.0
45 deafness, autosomal recessive 59 12.0
46 deafness, autosomal recessive 30 12.0
47 deafness, autosomal recessive 84b 12.0
48 deafness, autosomal recessive 68 12.0
49 deafness, autosomal recessive 97 12.0
50 deafness, autosomal recessive 101 12.0

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



Diseases related to Deafness, Autosomal Recessive

Symptoms & Phenotypes for Deafness, Autosomal Recessive

Clinical features from OMIM:

607197

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 CIB2 ESPN ESRRB GIPC3 GRXCR1 LHFPL5
2 hearing/vestibular/ear MP:0005377 9.77 ILDR1 LHFPL5 LRTOMT MARVELD2 OTOF TMIE
3 nervous system MP:0003631 9.4 USH1C CIB2 ESPN GIPC3 GJB2 GRXCR1

Drugs & Therapeutics for Deafness, Autosomal Recessive

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Biomarker for Patient With Alport Disease or Highly Suspected for Alport Disease Recruiting NCT02718027
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Deafness, Autosomal Recessive

Genetic Tests for Deafness, Autosomal Recessive

Genetic tests related to Deafness, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 29

Anatomical Context for Deafness, Autosomal Recessive

Publications for Deafness, Autosomal Recessive

Variations for Deafness, Autosomal Recessive

ClinVar genetic disease variations for Deafness, Autosomal Recessive:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GJB3 NM_024009.2(GJB3): c.421_423delATT (p.Ile141del) deletion Pathogenic rs770247378 GRCh38 Chromosome 1, 34785183: 34785185
2 GJB3 NM_024009.2(GJB3): c.421A> G (p.Ile141Val) single nucleotide variant Pathogenic rs74315320 GRCh37 Chromosome 1, 35250784: 35250784
3 OTOF NM_194248.2(OTOF): c.1111G> C (p.Gly371Arg) single nucleotide variant Pathogenic rs879255246 GRCh37 Chromosome 2, 26707436: 26707436

Expression for Deafness, Autosomal Recessive

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

Pathways for Deafness, Autosomal Recessive

GO Terms for Deafness, Autosomal Recessive

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

id Name GO ID Score Top Affiliating Genes
1 photoreceptor inner segment GO:0001917 9.43 CIB2 USH1C
2 gap junction GO:0005921 9.4 GJB2 GJB3
3 connexin complex GO:0005922 9.37 GJB2 GJB3
4 microvillus GO:0005902 9.33 ESPN GRXCR1 USH1C
5 stereocilium tip GO:0032426 9.32 ESPN LHFPL5
6 stereocilium bundle GO:0032421 9.26 ESPN LHFPL5
7 tricellular tight junction GO:0061689 8.96 ILDR1 MARVELD2
8 stereocilium GO:0032420 8.92 CIB2 ESPN GRXCR1 USH1C

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

id Name GO ID Score Top Affiliating Genes
1 photoreceptor cell maintenance GO:0045494 9.33 CIB2 ESRRB USH1C
2 actin filament bundle assembly GO:0051017 9.32 ESPN USH1C
3 sensory perception of sound GO:0007605 9.28 ESPN GJB2 GRXCR1 LHFPL5 LRTOMT MARVELD2
4 inner ear receptor stereocilium organization GO:0060122 9.26 GRXCR1 USH1C
5 parallel actin filament bundle assembly GO:0030046 8.96 ESPN USH1C

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

id Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJB2 GJB3

Sources for Deafness, Autosomal Recessive

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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