MCID: DFN280
MIFTS: 25

Deafness, Autosomal Recessive

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

Aliases & Classifications for Deafness, Autosomal Recessive

MalaCards integrated aliases for Deafness, Autosomal Recessive:

Name: Deafness, Autosomal Recessive 53 36 28

Classifications:



External Ids:

OMIM 53 607197
MedGen 39 C1846647
KEGG 36 H00605

Summaries for Deafness, Autosomal Recessive

MalaCards based summary : Deafness, Autosomal Recessive is related to deafness, autosomal recessive 85 and deafness, autosomal recessive 26. 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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

Diseases related to Deafness, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 85 33.6 DFNB85 OTOF
2 deafness, autosomal recessive 26 33.6 DFNB26 OTOF
3 deafness, autosomal recessive 83 33.5 DFNB83 OTOF
4 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 33.3 GJB3 OTOF
5 nonsyndromic deafness 29.6 DFNB51 GJB3 OTOF
6 deafness, autosomal recessive 8 12.3
7 deafness, autosomal recessive 15 12.3
8 deafness, autosomal recessive 84a 12.3
9 deafness, autosomal recessive 7 12.2
10 deafness, autosomal recessive 12 12.2
11 deafness, autosomal recessive 18a 12.2
12 deafness, autosomal recessive 36, with or without vestibular involvement 12.2
13 deafness, autosomal recessive 37 12.2
14 deafness, autosomal recessive 39 12.2
15 deafness, autosomal recessive 42 12.2
16 deafness, autosomal recessive 1a 12.2
17 deafness, autosomal recessive 2 12.2
18 deafness, autosomal recessive 3 12.2
19 deafness, autosomal recessive 6 12.2
20 deafness, autosomal recessive 21 12.2
21 deafness, autosomal recessive 16 12.2
22 deafness, autosomal recessive 22 12.2
23 deafness, autosomal recessive 31 12.2
24 deafness, autosomal recessive 48 12.2
25 deafness, autosomal recessive 23 12.2
26 deafness, autosomal recessive 53 12.2
27 deafness, autosomal recessive 28 12.2
28 deafness, autosomal recessive 49 12.2
29 deafness, autosomal recessive 63 12.2
30 deafness, autosomal recessive 1b 12.2
31 deafness, autosomal recessive 61 12.2
32 deafness, autosomal recessive 29 12.2
33 deafness, autosomal recessive 77 12.2
34 deafness, autosomal recessive 79 12.2
35 deafness, autosomal recessive 91 12.2
36 deafness, autosomal recessive 86 12.2
37 deafness, autosomal recessive 93 12.2
38 deafness, autosomal recessive 9 12.2
39 deafness, autosomal recessive 30 12.2
40 deafness, autosomal recessive 35 12.2
41 deafness, autosomal recessive 44 12.2
42 deafness, autosomal recessive 66 12.2
43 deafness, autosomal recessive 59 12.2
44 deafness, autosomal recessive 67 12.2
45 deafness, autosomal recessive 68 12.2
46 deafness, autosomal recessive 24 12.2
47 deafness, autosomal recessive 25 12.2
48 deafness, autosomal recessive 74 12.2
49 deafness, autosomal recessive 89 12.2
50 deafness, autosomal recessive 98 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 28

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.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

Sources for Deafness, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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