MCID: ATS006
MIFTS: 27

Autosomal Recessive Nonsyndromic Deafness

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

Aliases & Classifications for Autosomal Recessive Nonsyndromic Deafness

MalaCards integrated aliases for Autosomal Recessive Nonsyndromic Deafness:

Name: Autosomal Recessive Nonsyndromic Deafness 12 15
Deafness, Autosomal Recessive, Nonsyndromic 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0050565
ICD10 32 H90.3

Summaries for Autosomal Recessive Nonsyndromic Deafness

Disease Ontology : 12 A nonsyndromic deafness characterized by an autosomal recessive inheritance mode.

MalaCards based summary : Autosomal Recessive Nonsyndromic Deafness, also known as deafness, autosomal recessive, nonsyndromic, is related to autosomal recessive nonsyndromic deafness 36 and deafness, autosomal recessive 15. An important gene associated with Autosomal Recessive Nonsyndromic Deafness is OTOG (Otogelin). Related phenotypes are behavior/neurological and hearing/vestibular/ear

Related Diseases for Autosomal Recessive Nonsyndromic Deafness

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 Autosomal Recessive Nonsyndromic Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 36 34.5 TRIOBP PCDH15 CDH23
2 deafness, autosomal recessive 15 33.7 MYO15A GIPC3
3 deafness, autosomal recessive 53 33.7 OTOG LRTOMT
4 deafness, autosomal recessive 84b 33.6 STRC OTOG
5 deafness, autosomal recessive 18b 33.6 STRC OTOG
6 deafness, autosomal recessive 85 33.6 TMPRSS3 OTOF
7 deafness, autosomal recessive 21 33.6 OTOG MYO15A GJB2
8 deafness, autosomal recessive 49 33.5 MYO15A GJB2
9 deafness, autosomal recessive 18a 33.5 PCDH15 MYO7A MYO15A CDH23
10 deafness, autosomal recessive 27 33.5 TMIE TMC1
11 deafness, autosomal recessive 25 33.5 TRIOBP TMPRSS3 MYO15A
12 deafness, autosomal recessive 79 33.4 TMC1 MYO15A GJB2
13 deafness, autosomal recessive 86 33.4 PCDH15 CDH23
14 autosomal recessive nonsyndromic deafness 3 33.4 TMC1 SLC26A4 OTOF MYO7A MYO15A LRTOMT
15 deafness, autosomal recessive 1b 33.4 STRC MYO15A GJB2
16 deafness, autosomal recessive 37 33.4 TRIOBP MYO7A MYO15A GIPC3
17 deafness, autosomal recessive 30 33.4 PCDH15 MYO7A MYO15A
18 deafness, autosomal recessive 24 33.4 TRIOBP MYO15A MIR96 LRTOMT
19 deafness, autosomal recessive 61 33.3 TRIOBP STRC SLC26A4 OTOF
20 deafness, autosomal recessive 8 33.3 TMPRSS3 TMC1 OTOF MYO15A GJB2
21 deafness, autosomal recessive 28 33.3 TRIOBP TMIE OTOF MYO15A
22 deafness, autosomal recessive 13 33.2 TMPRSS3 TMC1 GIPC3 CDH23
23 deafness, autosomal recessive 93 33.2 TRIOBP TMC1 OTOF LRTOMT GJB2
24 deafness, autosomal recessive 39 33.2 TRIOBP TMPRSS3 STRC GJB2
25 deafness, autosomal recessive 48 33.0 TMC2 TMC1 PCDH15 MYO7A
26 deafness, autosomal recessive 67 33.0 TMIE TMC2 PCDH15 LRTOMT
27 deafness, autosomal recessive 35 33.0 TRIOBP TMPRSS3 TMIE MYO15A LRTOMT
28 deafness, autosomal recessive 23 33.0 TMC1 PCDH15 MYO7A MYO15A CDH23
29 deafness, autosomal recessive 6 33.0 TRIOBP TMPRSS3 TMIE TMC1 LRTOMT
30 deafness, autosomal recessive 63 32.9 TMIE TMC2 TMC1 MYO7A MYO15A LRTOMT
31 deafness, autosomal recessive 77 32.8 TMPRSS3 TMIE SLC26A4 GJB2 CDH23
32 deafness, autosomal recessive 9 32.8 TMC1 SLC26A4 OTOF MYO7A MYO15A GJB2
33 deafness, autosomal recessive 22 32.7 TRIOBP TMIE STRC OTOF MYO15A CDH23
34 deafness, autosomal recessive 1a 32.7 TMC1 STRC SLC26A4 OTOF MYO7A GJB2
35 deafness, autosomal recessive 83 32.6 TMPRSS3 SLC26A4 OTOF MYO7A MYO15A GPSM2
36 deafness, autosomal recessive 2 32.3 TMC1 SLC26A4 PCDH15 OTOF MYO7A MYO15A
37 deafness, autosomal recessive 16 32.2 TMIE STRC SLC26A4 PCDH15 OTOF MYO15A
38 deafness, autosomal recessive 7 31.7 TMIE TMC2 TMC1 SLC26A4 OTOF MYO7A
39 deafness, autosomal recessive 12 31.5 TRIOBP TMIE TMC1 STRC SLC26A4 PCDH15
40 nonsyndromic deafness 31.0 PCDH15 OTOG MYO15A LRTOMT GJB2
41 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 30.4 TRIOBP TMPRSS3 TMIE TMC1 STRC SLC26A4
42 branchiootic syndrome 1 30.3 TMC1 SLC26A4 OTOG OTOF MYO7A GPSM2
43 nonsyndromic hearing loss 28.4 TRIOBP TMPRSS3 TMIE TMC1 SLC26A4 PCDH15
44 sensorineural hearing loss 27.8 TRIOBP TMPRSS3 TMIE TMC1 STRC SLC26A4
45 autosomal recessive non-syndromic sensorineural deafness type dfnb 27.3 TRIOBP TMPRSS3 TMIE TMC1 STRC SLC26A4
46 autosomal recessive nonsyndromic deafness 32 12.6
47 autosomal recessive nonsyndromic deafness 106 12.4
48 autosomal recessive nonsyndromic deafness 107 12.4
49 autosomal recessive nonsyndromic deafness 108 12.4
50 deafness, autosomal recessive 68 12.2

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



Diseases related to Autosomal Recessive Nonsyndromic Deafness

Symptoms & Phenotypes for Autosomal Recessive Nonsyndromic Deafness

MGI Mouse Phenotypes related to Autosomal Recessive Nonsyndromic Deafness:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 CDH23 GIPC3 GPSM2 LRTOMT MYO15A MYO7A
2 hearing/vestibular/ear MP:0005377 9.89 CDH23 GIPC3 GJB2 GPSM2 LRTOMT MYO15A
3 nervous system MP:0003631 9.55 CDH23 GIPC3 GJB2 GPSM2 LRTOMT MYO15A

Drugs & Therapeutics for Autosomal Recessive Nonsyndromic Deafness

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

Genetic Tests for Autosomal Recessive Nonsyndromic Deafness

Anatomical Context for Autosomal Recessive Nonsyndromic Deafness

Publications for Autosomal Recessive Nonsyndromic Deafness

Articles related to Autosomal Recessive Nonsyndromic Deafness:

(show all 31)
# Title Authors PMID Year
1
Tprn is essential for the integrity of stereociliary rootlet in cochlear hair cells in mice. 61
30159668 2019
2
Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss. 61
30610177 2019
3
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. 61
27375115 2016
4
Progressive hearing loss and degeneration of hair cell stereocilia in taperin gene knockout mice. 61
27693694 2016
5
CORRIGENDUM: Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. 61
27494218 2016
6
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness. 61
27259055 2016
7
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. 61
26226137 2016
8
Tauroursodeoxycholic acid prevents hearing loss and hair cell death in Cdh23(erl/erl) mice. 61
26748055 2016
9
Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. 61
24194196 2014
10
GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness. 61
23434199 2013
11
Autosomal recessive nonsyndromic deafness genes: a review. 61
22652773 2012
12
Vestibular dysfunction in DFNB1 deafness. 61
21465647 2011
13
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. 61
21185009 2011
14
Recurrent and private MYO15A mutations are associated with deafness in the Turkish population. 61
20642360 2010
15
Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients. 61
19715472 2009
16
Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness. 61
18797288 2008
17
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. 61
17690910 2007
18
Targeted knockout and lacZ reporter expression of the mouse Tmhs deafness gene and characterization of the hscy-2J mutation. 61
17876667 2007
19
Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss. 61
17620368 2007
20
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. 61
17066295 2007
21
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. 61
16385457 2006
22
Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31. 61
15637723 2005
23
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. 61
14679580 2004
24
A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan. 61
12529709 2003
25
Searching for evidence of DFNB2. 61
11992483 2002
26
MYO1F as a candidate gene for nonsyndromic deafness, DFNB15. 61
11493199 2001
27
The third human FER-1-like protein is highly similar to dysferlin. 61
10995573 2000
28
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region. 61
10950923 2000
29
Genetic causes of nonsyndromic hearing loss. 61
10590915 1999
30
Mapping of the otogelin gene (OTGN) to mouse chromosome 7 and human chromosome 11p14.3: a candidate for human autosomal recessive nonsyndromic deafness DFNB18. 61
10337628 1999
31
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. 61
9529365 1998

Variations for Autosomal Recessive Nonsyndromic Deafness

Expression for Autosomal Recessive Nonsyndromic Deafness

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

Pathways for Autosomal Recessive Nonsyndromic Deafness

GO Terms for Autosomal Recessive Nonsyndromic Deafness

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

# Name GO ID Score Top Affiliating Genes
1 kinocilium GO:0060091 9.16 STRC ELMOD3
2 stereocilium tip GO:0032426 9.13 TMC2 TMC1 STRC
3 stereocilium GO:0032420 9.1 STRC PCDH15 MYO7A MYO15A ELMOD3 CDH23

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 9.71 PCDH15 MYO15A CDH23
2 actin filament organization GO:0007015 9.71 TRIOBP PCDH15 MYO7A MYO15A
3 inner ear morphogenesis GO:0042472 9.67 TMIE MYO7A MYO15A
4 inner ear development GO:0048839 9.63 PCDH15 MYO7A GJB2
5 vesicle transport along actin filament GO:0030050 9.55 MYO7A MYO15A
6 inner ear receptor cell stereocilium organization GO:0060122 9.54 PCDH15 MYO7A CDH23
7 inner ear auditory receptor cell differentiation GO:0042491 9.52 PCDH15 MYO7A
8 regulation of calcium ion transmembrane transport GO:1903169 9.51 TMC2 TMC1
9 sensory perception of light stimulus GO:0050953 9.5 PCDH15 MYO7A CDH23
10 auditory receptor cell development GO:0060117 9.48 TMC1 LRTOMT
11 sensory perception of sound GO:0007605 9.47 TRIOBP TMPRSS3 TMIE TMC1 STRC SLC26A4
12 auditory receptor cell stereocilium organization GO:0060088 9.46 TRIOBP STRC PCDH15 MYO7A
13 vestibular reflex GO:0060005 9.43 TMC2 TMC1
14 equilibrioception GO:0050957 9.43 PCDH15 MYO7A CDH23
15 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.26 TMC2 TMC1 STRC PCDH15

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

# Name GO ID Score Top Affiliating Genes
1 actin-dependent ATPase activity GO:0030898 8.96 MYO7A MYO15A
2 mechanosensitive ion channel activity GO:0008381 8.62 TMC2 TMC1

Sources for Autosomal Recessive Nonsyndromic Deafness

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
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