MCID: DFN280
MIFTS: 27

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 56 36 29 6 39

Classifications:



External Ids:

OMIM 56 607197
KEGG 36 H00605
MedGen 41 C1846647

Summaries for Deafness, Autosomal Recessive

KEGG : 36 Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases of hereditary etiology and syndromic cases represent 30% of them. Among the forms of heritage, autosomal-recessive inheritance is the most frequent one (75%-85%), followed by autosomal- dominant inheritance (12-13%) and X-linked or mitochondrial, with 2-3% of the cases of non-syndromic hearing loss. The autosomal-recessive forms of deafness are generally the most severe and are almost exclusively caused by cochlear defects (sensorineural deafness), in contrast to the syndromic forms of deafness, where the hearing loss in most cases is conductive (external and/or middle ear developmental defects) or mixed.

MalaCards based summary : Deafness, Autosomal Recessive is related to deafness, autosomal recessive 1a and deafness, autosomal recessive 83. An important gene associated with Deafness, Autosomal Recessive is OTOF (Otoferlin). Affiliated tissues include brain.

More information from OMIM: 607197

Related Diseases for Deafness, Autosomal Recessive

Diseases in the Rare 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
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
Deafness, Autosomal Dominant 75 Deafness, Autosomal Dominant 76
Deafness, Autosomal Dominant 77 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 32
Autosomal Recessive Nonsyndromic Deafness 36 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

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

(show top 50) (show all 112)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 1a 34.2 OTOF GJB3
2 deafness, autosomal recessive 83 33.7 OTOF DFNB83
3 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 33.5 OTOF GJB3
4 deafness, autosomal recessive 8 12.6
5 deafness, autosomal recessive 15 12.6
6 deafness, autosomal recessive 12 12.6
7 deafness, autosomal recessive 84a 12.6
8 deafness, autosomal recessive 7 12.6
9 deafness, autosomal recessive 18a 12.6
10 deafness, autosomal recessive 37 12.6
11 deafness, autosomal recessive 39 12.6
12 deafness, autosomal recessive 42 12.6
13 deafness, autosomal recessive 2 12.6
14 deafness, autosomal recessive 3 12.6
15 deafness, autosomal recessive 6 12.6
16 deafness, autosomal recessive 21 12.6
17 deafness, autosomal recessive 16 12.6
18 deafness, autosomal recessive 22 12.6
19 deafness, autosomal recessive 31 12.6
20 deafness, autosomal recessive 48 12.6
21 deafness, autosomal recessive 23 12.6
22 deafness, autosomal recessive 53 12.6
23 deafness, autosomal recessive 28 12.6
24 deafness, autosomal recessive 49 12.6
25 deafness, autosomal recessive 63 12.6
26 deafness, autosomal recessive 1b 12.6
27 deafness, autosomal recessive 61 12.6
28 deafness, autosomal recessive 29 12.6
29 deafness, autosomal recessive 77 12.5
30 deafness, autosomal recessive 79 12.5
31 deafness, autosomal recessive 91 12.5
32 deafness, autosomal recessive 93 12.5
33 deafness, autosomal recessive 30 12.5
34 deafness, autosomal recessive 35 12.5
35 deafness, autosomal recessive 44 12.5
36 deafness, autosomal recessive 66 12.5
37 deafness, autosomal recessive 59 12.5
38 deafness, autosomal recessive 67 12.5
39 deafness, autosomal recessive 68 12.5
40 deafness, autosomal recessive 24 12.5
41 deafness, autosomal recessive 25 12.5
42 deafness, autosomal recessive 74 12.5
43 deafness, autosomal recessive 89 12.5
44 deafness, autosomal recessive 86 12.5
45 deafness, autosomal recessive 98 12.5
46 deafness, autosomal recessive 70 12.5
47 deafness, autosomal recessive 84b 12.5
48 deafness, autosomal recessive 18b 12.5
49 deafness, autosomal recessive 26 12.5
50 deafness, autosomal recessive 88 12.5

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

MalaCards organs/tissues related to Deafness, Autosomal Recessive:

40
Brain

Publications for Deafness, Autosomal Recessive

Articles related to Deafness, Autosomal Recessive:

(show all 18)
# Title Authors PMID Year
1
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. 56
12457340 2003
2
Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. 56
11741837 2001
3
Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. 6
10587579 2000
4
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
5
Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family. 61
30760222 2019
6
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. 61
30046887 2018
7
Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis. 61
29568747 2018
8
Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling. 61
28941661 2017
9
Genetics Of Human Hereditary Hearing Impairment. 61
29331002 2017
10
Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients. 61
27260575 2016
11
A novel recessive truncating mutation in MYO15A causing prelingual sensorineural hearing loss. 61
26810297 2016
12
The PDZ-domain protein Whirlin facilitates mechanosensory signaling in mammalian proprioceptors. 61
25698744 2015
13
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. 61
22678063 2012
14
Subcellular localization of the transmembrane inner ear (Tmie) protein in a stable Tmie-expressing cell line. 61
22232643 2011
15
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family. 61
21738389 2011
16
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin. 61
20352026 2010
17
Differential expression of otoferlin in brain, vestibular system, immature and mature cochlea of the rat. 61
17229086 2006
18
Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria. 61
15464308 2004

Variations for Deafness, Autosomal Recessive

ClinVar genetic disease variations for Deafness, Autosomal Recessive:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GJB3 NM_024009.3(GJB3):c.421_423del (p.Ile141del)deletion Pathogenic 6487 rs770247378 1:35250784-35250786 1:34785183-34785185
2 GJB3 NM_024009.3(GJB3):c.421A>G (p.Ile141Val)SNV Pathogenic 6488 rs74315320 1:35250784-35250784 1:34785183-34785183
3 OTOF NM_194248.3(OTOF):c.1111G>C (p.Gly371Arg)SNV Pathogenic 252378 rs879255246 2:26707436-26707436 2:26484568-26484568
4 CLIC5 NM_016929.5(CLIC5):c.644G>A (p.Trp215Ter)SNV Likely pathogenic 694310 6:45870937-45870937 6:45903200-45903200

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....