MCID: DFN280
MIFTS: 25

Deafness, Autosomal Recessive

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

Aliases & Classifications for Deafness, Autosomal Recessive

MalaCards integrated aliases for Deafness, Autosomal Recessive:

Name: Deafness, Autosomal Recessive 57 37 29 6 40

Classifications:



External Ids:

OMIM 57 607197
MedGen 42 C1846647
KEGG 37 H00605

Summaries for Deafness, Autosomal Recessive

MalaCards based summary : Deafness, Autosomal Recessive is related to deafness, autosomal recessive 85 and deafness, autosomal recessive 1a. An important gene associated with Deafness, Autosomal Recessive is OTOF (Otoferlin).

Description from OMIM: 607197

Related Diseases for Deafness, Autosomal Recessive

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 103)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 85 34.1 DFNB85 OTOF
2 deafness, autosomal recessive 1a 34.0 GJB3 OTOF
3 deafness, autosomal recessive 83 33.9 DFNB83 OTOF
4 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 33.7 GJB3 OTOF
5 deafness, autosomal recessive 8 12.3
6 deafness, autosomal recessive 15 12.3
7 deafness, autosomal recessive 84a 12.3
8 deafness, autosomal recessive 12 12.3
9 deafness, autosomal recessive 36, with or without vestibular involvement 12.3
10 deafness, autosomal recessive 7 12.3
11 deafness, autosomal recessive 18a 12.3
12 deafness, autosomal recessive 37 12.3
13 deafness, autosomal recessive 39 12.3
14 deafness, autosomal recessive 42 12.3
15 deafness, autosomal recessive 2 12.2
16 deafness, autosomal recessive 3 12.2
17 deafness, autosomal recessive 6 12.2
18 deafness, autosomal recessive 21 12.2
19 deafness, autosomal recessive 16 12.2
20 deafness, autosomal recessive 22 12.2
21 deafness, autosomal recessive 31 12.2
22 deafness, autosomal recessive 48 12.2
23 deafness, autosomal recessive 23 12.2
24 deafness, autosomal recessive 53 12.2
25 deafness, autosomal recessive 28 12.2
26 deafness, autosomal recessive 49 12.2
27 deafness, autosomal recessive 63 12.2
28 deafness, autosomal recessive 1b 12.2
29 deafness, autosomal recessive 61 12.2
30 deafness, autosomal recessive 29 12.2
31 deafness, autosomal recessive 77 12.2
32 deafness, autosomal recessive 79 12.2
33 deafness, autosomal recessive 91 12.2
34 deafness, autosomal recessive 93 12.2
35 deafness, autosomal recessive 9 12.2
36 deafness, autosomal recessive 30 12.2
37 deafness, autosomal recessive 35 12.2
38 deafness, autosomal recessive 44 12.2
39 deafness, autosomal recessive 66 12.2
40 deafness, autosomal recessive 59 12.2
41 deafness, autosomal recessive 67 12.2
42 deafness, autosomal recessive 68 12.2
43 deafness, autosomal recessive 24 12.2
44 deafness, autosomal recessive 25 12.2
45 deafness, autosomal recessive 74 12.2
46 deafness, autosomal recessive 89 12.2
47 deafness, autosomal recessive 86 12.2
48 deafness, autosomal recessive 98 12.2
49 deafness, autosomal recessive 70 12.2
50 deafness, autosomal recessive 84b 12.2

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

Drugs & Therapeutics for Deafness, Autosomal Recessive

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

Genetic Tests for Deafness, Autosomal Recessive

Genetic tests related to Deafness, Autosomal Recessive:

# 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
# 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.421_423delATT (p.Ile141del) deletion Pathogenic rs770247378 GRCh37 Chromosome 1, 35250784: 35250786
3 GJB3 NM_024009.2(GJB3): c.421A> G (p.Ile141Val) single nucleotide variant Pathogenic rs74315320 GRCh37 Chromosome 1, 35250784: 35250784
4 GJB3 NM_024009.2(GJB3): c.421A> G (p.Ile141Val) single nucleotide variant Pathogenic rs74315320 GRCh38 Chromosome 1, 34785183: 34785183
5 OTOF NM_194248.2(OTOF): c.1111G> C (p.Gly371Arg) single nucleotide variant Pathogenic rs879255246 GRCh37 Chromosome 2, 26707436: 26707436
6 OTOF NM_194248.2(OTOF): c.1111G> C (p.Gly371Arg) single nucleotide variant Pathogenic rs879255246 GRCh38 Chromosome 2, 26484568: 26484568

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

Sources for Deafness, Autosomal Recessive

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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