MCID: DFN280
MIFTS: 26

Deafness, Autosomal Recessive

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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 1a and deafness, autosomal recessive 4, with enlarged vestibular aqueduct. 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 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
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 105 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 Deafness, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 1a 33.8 GJB3 OTOF
2 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 33.7 GJB3 OTOF
3 deafness, autosomal recessive 85 33.4 DFNB85 OTOF
4 deafness, autosomal recessive 83 33.4 DFNB83 OTOF
5 deafness, autosomal recessive 8 12.4
6 deafness, autosomal recessive 15 12.4
7 deafness, autosomal recessive 84a 12.4
8 deafness, autosomal recessive 12 12.4
9 deafness, autosomal recessive 36, with or without vestibular involvement 12.4
10 deafness, autosomal recessive 7 12.4
11 deafness, autosomal recessive 18a 12.4
12 deafness, autosomal recessive 37 12.4
13 deafness, autosomal recessive 39 12.4
14 deafness, autosomal recessive 42 12.4
15 deafness, autosomal recessive 2 12.4
16 deafness, autosomal recessive 3 12.4
17 deafness, autosomal recessive 6 12.4
18 deafness, autosomal recessive 21 12.4
19 deafness, autosomal recessive 16 12.4
20 deafness, autosomal recessive 22 12.4
21 deafness, autosomal recessive 31 12.4
22 deafness, autosomal recessive 48 12.4
23 deafness, autosomal recessive 23 12.4
24 deafness, autosomal recessive 53 12.4
25 deafness, autosomal recessive 28 12.4
26 deafness, autosomal recessive 49 12.4
27 deafness, autosomal recessive 63 12.4
28 deafness, autosomal recessive 1b 12.4
29 deafness, autosomal recessive 61 12.4
30 deafness, autosomal recessive 29 12.4
31 deafness, autosomal recessive 77 12.4
32 deafness, autosomal recessive 79 12.4
33 deafness, autosomal recessive 91 12.4
34 deafness, autosomal recessive 93 12.4
35 deafness, autosomal recessive 9 12.4
36 deafness, autosomal recessive 30 12.4
37 deafness, autosomal recessive 35 12.4
38 deafness, autosomal recessive 44 12.4
39 deafness, autosomal recessive 66 12.4
40 deafness, autosomal recessive 59 12.4
41 deafness, autosomal recessive 67 12.4
42 deafness, autosomal recessive 68 12.4
43 deafness, autosomal recessive 24 12.4
44 deafness, autosomal recessive 25 12.4
45 deafness, autosomal recessive 74 12.4
46 deafness, autosomal recessive 89 12.4
47 deafness, autosomal recessive 86 12.4
48 deafness, autosomal recessive 98 12.4
49 deafness, autosomal recessive 70 12.4
50 deafness, autosomal recessive 84b 12.4

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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