MCID: ATS006
MIFTS: 36

Autosomal Recessive Nonsyndromic Deafness

Categories: 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 6 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 deafness, autosomal recessive 6 and deafness, autosomal recessive 61. An important gene associated with Autosomal Recessive Nonsyndromic Deafness is GPSM2 (G Protein Signaling Modulator 2). Affiliated tissues include eye, and related phenotypes are hearing/vestibular/ear and behavior/neurological

Related Diseases for Autosomal Recessive Nonsyndromic Deafness

Diseases in the Rare Deafness family:

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
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Deafness, Autosomal Dominant 80 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 Autosomal Dominant Nonsyndromic Deafness 78
Autosomal Dominant Nonsyndromic Deafness 79 Autosomal Recessive Nonsyndromic Deafness 116
Autosomal Dominant Nonsyndromic Deafness 74 Autosomal Dominant Nonsyndromic Deafness 75
Autosomal Dominant Nonsyndromic Deafness 76 Autosomal Dominant Nonsyndromic Deafness 77
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 188)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 6 33.2 TRIOBP TMIE CDH23
2 deafness, autosomal recessive 61 33.2 TRIOBP TECTA SLC26A4 OTOF
3 deafness, autosomal recessive 79 33.2 TMC1 MYO15A GPSM2 GJB2
4 deafness, autosomal recessive 37 33.2 TRIOBP MYO7A MYO15A GIPC3
5 deafness, autosomal recessive 85 33.2 OTOF GPSM2
6 deafness, autosomal recessive 13 33.2 TMPRSS3 TMC1 GIPC3
7 deafness, autosomal recessive 21 33.2 TMC1 TECTA OTOG MYO15A GJB2
8 deafness, autosomal recessive 25 33.2 TRIOBP TMPRSS3 MYO15A
9 deafness, autosomal recessive 93 33.2 TRIOBP TMIE OTOF GJB2
10 deafness, autosomal recessive 15 33.2 MYO15A ILDR1 GIPC3
11 deafness, autosomal recessive 18a 33.2 PCDH15 MYO7A MYO15A CDH23
12 deafness, autosomal recessive 24 33.2 TRIOBP TECTA MYO15A ILDR1
13 autosomal recessive nonsyndromic deafness 3 33.2 TMC1 SLC26A4 OTOF MYO7A MYO15A GJB2
14 deafness, autosomal recessive 91 33.2 GJB3 GJB2 CDH23
15 deafness, autosomal recessive 35 33.2 TRIOBP TMPRSS3 TMIE CDH23
16 deafness, autosomal recessive 49 33.2 MYO15A ILDR1 GJB2
17 deafness, autosomal recessive 83 33.2 TMPRSS3 SLC26A4 OTOF MYO7A MYO15A GPSM2
18 deafness, autosomal recessive 22 33.2 TRIOBP TMIE TECTA MYO15A
19 deafness, autosomal recessive 1a 33.2 TMC1 SLC26A4 OTOF MYO7A GJB3 GJB2
20 deafness, autosomal recessive 18b 33.2 TECTA OTOG
21 deafness, autosomal recessive 29 33.2 TECTA ILDR1 GJB2
22 deafness, autosomal recessive 27 33.2 TMIE TMC1
23 deafness, autosomal recessive 28 33.2 TRIOBP TMIE TECTA OTOF MYO15A
24 deafness, autosomal recessive 1b 33.1 MYO15A GJB3 GJB2
25 deafness, autosomal recessive 8 33.1 TMPRSS3 TMC1 OTOF MYO15A LOXHD1 GJB2
26 deafness, autosomal recessive 39 33.1 TRIOBP TMPRSS3 LOXHD1 GJB2
27 deafness, autosomal recessive 16 33.1 TMIE TMC1 OTOG OTOF MYO15A GJB2
28 deafness, autosomal recessive 77 33.1 TMPRSS3 SLC26A4 LOXHD1 GJB2 CDH23
29 deafness, autosomal recessive 30 33.1 PCDH15 MYO7A MYO15A
30 deafness, autosomal recessive 63 33.1 TMIE TMC1 MYO7A MYO15A MYH9
31 deafness, autosomal recessive 53 33.1 TECTA OTOG
32 autosomal recessive nonsyndromic deafness 36 33.1 TRIOBP PCDH15
33 deafness, autosomal recessive 48 33.1 TMC1 MYO7A
34 deafness, autosomal recessive 7 33.1 TMIE TMC1 SLC26A4 OTOF MYO7A MYO15A
35 deafness, autosomal recessive 67 33.1 TMIE PCDH15 ILDR1
36 deafness, autosomal recessive 26 33.1 TECTA GJB2
37 deafness, autosomal recessive 23 33.1 USH1G TMC1 PCDH15 MYO7A MYO15A GJB2
38 deafness, autosomal recessive 9 33.0 TRIOBP TMPRSS3 TMIE TMC1 TECTA SLC26A4
39 deafness, autosomal recessive 2 33.0 USH1G TMC1 TECTA SLC26A4 PCDH15 OTOF
40 deafness, autosomal recessive 42 33.0 TECTA ILDR1
41 deafness, autosomal recessive 86 33.0 PCDH15 CDH23
42 deafness, autosomal recessive 12 32.8 USH1G TRIOBP TMPRSS3 TMIE TMC1 TECTA
43 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 32.8 TRIOBP TMPRSS3 TMIE TMC1 TECTA SLC26A4
44 branchiootic syndrome 1 31.4 USH1G TMC1 TECTA SLC26A4 OTOG OTOF
45 nonsyndromic deafness 31.3 TRIOBP TMPRSS3 TMC1 TECTA SLC26A4 PCDH15
46 autosomal recessive non-syndromic sensorineural deafness type dfnb 30.6 USH1G TRIOBP TMPRSS3 TMIE TMC1 TECTA
47 nonsyndromic hearing loss 30.5 TRIOBP TMPRSS3 TMIE TMC1 TECTA SLC26A4
48 rare genetic deafness 30.5 TMPRSS3 TMIE TMC1 TECTA SLC26A4 PCDH15
49 sensorineural hearing loss 30.4 USH1G TRIOBP TMPRSS3 TMIE TMC1 TECTA
50 deafness, autosomal recessive 98 11.6

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 10.23 CDH23 GIPC3 GJB2 GJB3 GPSM2 ILDR1
2 behavior/neurological MP:0005386 10.22 CDH23 GIPC3 GPSM2 ILDR1 MYO15A MYO7A
3 nervous system MP:0003631 10.11 CDH23 GIPC3 GJB2 GPSM2 ILDR1 MYH9
4 no phenotypic analysis MP:0003012 9.56 GJB2 GJB3 GPSM2 ILDR1 MYH9 MYO7A
5 vision/eye MP:0005391 9.28 CDH23 GIPC3 GJB2 GPSM2 MYH9 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

MalaCards organs/tissues related to Autosomal Recessive Nonsyndromic Deafness:

40
Eye

Publications for Autosomal Recessive Nonsyndromic Deafness

Articles related to Autosomal Recessive Nonsyndromic Deafness:

(show all 35)
# Title Authors PMID Year
1
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. 6
30303587 2019
2
Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia). 6
27082237 2016
3
Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. 6
10587579 2000
4
Identification of homozygous mutations for hearing loss. 61
33524517 2021
5
Tprn is essential for the integrity of stereociliary rootlet in cochlear hair cells in mice. 61
30159668 2019
6
Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss. 61
30610177 2019
7
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. 61
27375115 2016
8
Progressive hearing loss and degeneration of hair cell stereocilia in taperin gene knockout mice. 61
27693694 2016
9
CORRIGENDUM: Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. 61
27494218 2016
10
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness. 61
27259055 2016
11
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. 61
26226137 2016
12
Tauroursodeoxycholic acid prevents hearing loss and hair cell death in Cdh23(erl/erl) mice. 61
26748055 2016
13
Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. 61
24194196 2014
14
GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness. 61
23434199 2013
15
Autosomal recessive nonsyndromic deafness genes: a review. 61
22652773 2012
16
Vestibular dysfunction in DFNB1 deafness. 61
21465647 2011
17
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. 61
21185009 2011
18
Recurrent and private MYO15A mutations are associated with deafness in the Turkish population. 61
20642360 2010
19
Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients. 61
19715472 2009
20
Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness. 61
18797288 2008
21
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. 61
17690910 2007
22
Targeted knockout and lacZ reporter expression of the mouse Tmhs deafness gene and characterization of the hscy-2J mutation. 61
17876667 2007
23
Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss. 61
17620368 2007
24
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. 61
17066295 2007
25
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. 61
16385457 2006
26
Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31. 61
15637723 2005
27
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. 61
14679580 2004
28
A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan. 61
12529709 2003
29
Searching for evidence of DFNB2. 61
11992483 2002
30
MYO1F as a candidate gene for nonsyndromic deafness, DFNB15. 61
11493199 2001
31
The third human FER-1-like protein is highly similar to dysferlin. 61
10995573 2000
32
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
33
Genetic causes of nonsyndromic hearing loss. 61
10590915 1999
34
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
35
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. 61
9529365 1998

Variations for Autosomal Recessive Nonsyndromic Deafness

ClinVar genetic disease variations for Autosomal Recessive Nonsyndromic Deafness:

6 (show top 50) (show all 168)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJB3 NM_024009.3(GJB3):c.421_423del (p.Ile141del) Deletion Pathogenic 6487 rs770247378 GRCh37: 1:35250784-35250786
GRCh38: 1:34785183-34785185
2 GJB3 NM_024009.3(GJB3):c.421A>G (p.Ile141Val) SNV Pathogenic 6488 rs74315320 GRCh37: 1:35250784-35250784
GRCh38: 1:34785183-34785183
3 OTOF NM_194248.3(OTOF):c.1111G>C (p.Gly371Arg) SNV Pathogenic 252378 rs879255246 GRCh37: 2:26707436-26707436
GRCh38: 2:26484568-26484568
4 SLC26A4 NM_000441.2(SLC26A4):c.1164dup (p.Gly389fs) Duplication Pathogenic 267322 rs1554358720 GRCh37: 7:107330580-107330581
GRCh38: 7:107690135-107690136
5 PCDH15 NM_033056.4(PCDH15):c.3101G>A (p.Arg1034His) SNV Pathogenic 544690 rs907693214 GRCh37: 10:55719513-55719513
GRCh38: 10:53959753-53959753
6 GPSM2 NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter) SNV Pathogenic 1823 rs267606854 GRCh37: 1:109440214-109440214
GRCh38: 1:108897592-108897592
7 MYH9 NM_002473.5(MYH9):c.5137A>G (p.Ser1713Gly) SNV Pathogenic 402285 rs764139009 GRCh37: 22:36681924-36681924
GRCh38: 22:36285878-36285878
8 GPSM2 NM_013296.5(GPSM2):c.977G>A (p.Trp326Ter) SNV Pathogenic 402258 rs1060499797 GRCh37: 1:109445771-109445771
GRCh38: 1:108903149-108903149
9 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs) Deletion Pathogenic 17004 rs80338939 GRCh37: 13:20763686-20763686
GRCh38: 13:20189547-20189547
10 LOXHD1 NM_144612.6(LOXHD1):c.3061+1G>A SNV Pathogenic 523622 rs537227442 GRCh37: 18:44140045-44140045
GRCh38: 18:46560082-46560082
11 TMIE NM_147196.2(TMIE):c.250C>T (p.Arg84Trp) SNV Likely pathogenic 3391 rs28942097 GRCh37: 3:46750654-46750654
GRCh38: 3:46709164-46709164
12 TMPRSS3 NM_001256317.3(TMPRSS3):c.323-6G>A SNV Likely pathogenic 46113 rs374793617 GRCh37: 21:43808641-43808641
GRCh38: 21:42388532-42388532
13 SLC26A4 NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) SNV Likely pathogenic 189039 rs146281367 GRCh37: 7:107323982-107323982
GRCh38: 7:107683537-107683537
14 OTOF NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) SNV Likely pathogenic 21831 rs80356590 GRCh37: 2:26702224-26702224
GRCh38: 2:26479356-26479356
15 SLC26A4 NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) SNV Likely pathogenic 43566 rs111033256 GRCh37: 7:107315505-107315505
GRCh38: 7:107675060-107675060
16 SLC26A4 NM_000441.2(SLC26A4):c.919-2A>G SNV Likely pathogenic 4840 rs111033313 GRCh37: 7:107323898-107323898
GRCh38: 7:107683453-107683453
17 SLC26A4 NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) Deletion Likely pathogenic 43494 rs397516413 GRCh37: 7:107330616-107330616
GRCh38: 7:107690171-107690171
18 GJB2 NM_004004.6(GJB2):c.-23+1G>A SNV Likely pathogenic 17029 rs80338940 GRCh37: 13:20766921-20766921
GRCh38: 13:20192782-20192782
19 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) SNV Likely pathogenic 17002 rs104894396 GRCh37: 13:20763650-20763650
GRCh38: 13:20189511-20189511
20 GJB2 NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) SNV Likely pathogenic 17011 rs104894402 GRCh37: 13:20763498-20763498
GRCh38: 13:20189359-20189359
21 GJB2 NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) SNV Likely pathogenic 17027 rs28931593 GRCh37: 13:20763497-20763497
GRCh38: 13:20189358-20189358
22 GJB2 NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) SNV Likely pathogenic 17001 rs80338944 GRCh37: 13:20763490-20763490
GRCh38: 13:20189351-20189351
23 GJB2 NM_004004.6(GJB2):c.457G>A (p.Val153Ile) SNV Likely pathogenic 44754 rs111033186 GRCh37: 13:20763264-20763264
GRCh38: 13:20189125-20189125
24 ILDR1 NM_001199799.2(ILDR1):c.3G>A (p.Met1Ile) SNV Likely pathogenic 30797 rs387907016 GRCh37: 3:121740922-121740922
GRCh38: 3:122022075-122022075
25 SLC26A4 NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) SNV Likely pathogenic 43496 rs111033305 GRCh37: 7:107330645-107330645
GRCh38: 7:107690200-107690200
26 SLC26A4 NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) SNV Likely pathogenic 43498 rs111033220 GRCh37: 7:107330648-107330648
GRCh38: 7:107690203-107690203
27 USH1C NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) Duplication Likely pathogenic 5141 rs397515359 GRCh37: 11:17552955-17552956
GRCh38: 11:17531408-17531409
28 TMC1 NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) SNV Likely pathogenic 4103 rs121908073 GRCh37: 9:75309494-75309494
GRCh38: 9:72694578-72694578
29 CDH23 NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) SNV Likely pathogenic 444219 rs756147087 GRCh37: 10:73464800-73464800
GRCh38: 10:71705043-71705043
30 MYO7A NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) SNV Likely pathogenic 164664 rs797044491 GRCh37: 11:76869450-76869450
GRCh38: 11:77158404-77158404
31 MYO7A NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) SNV Likely pathogenic 555138 rs782279338 GRCh37: 11:76871311-76871311
GRCh38: 11:77160265-77160265
32 MYO7A NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) SNV Likely pathogenic 438172 rs782063761 GRCh37: 11:76883845-76883845
GRCh38: 11:77172799-77172799
33 CLIC5 NM_016929.5(CLIC5):c.644G>A (p.Trp215Ter) SNV Likely pathogenic 694310 rs1043716893 GRCh37: 6:45870937-45870937
GRCh38: 6:45903200-45903200
34 ANKRD36 NM_001354587.1(ANKRD36):c.2479-1G>A SNV Likely pathogenic 917512 GRCh37: 2:97860581-97860581
GRCh38: 2:97194844-97194844
35 ANKRD36 NM_001354587.1(ANKRD36):c.2589T>G (p.Ser863Arg) SNV Likely pathogenic 917513 GRCh37: 2:97862461-97862461
GRCh38: 2:97196724-97196724
36 MYO7A NM_000260.4(MYO7A):c.3728C>G (p.Pro1243Arg) SNV Likely pathogenic 562092 rs750358148 GRCh37: 11:76901162-76901162
GRCh38: 11:77190117-77190117
37 MYO7A NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) SNV Likely pathogenic 517448 rs757460257 GRCh37: 11:76909603-76909603
GRCh38: 11:77198558-77198558
38 MYO7A NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) Deletion Likely pathogenic 438178 rs1199012623 GRCh37: 11:76910849-76910849
GRCh38: 11:77199804-77199804
39 MYO7A NM_000260.4(MYO7A):c.5326+3A>G SNV Likely pathogenic 560895 rs1565469959 GRCh37: 11:76914265-76914265
GRCh38: 11:77203220-77203220
40 MYO7A NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) SNV Likely pathogenic 560898 rs751242455 GRCh37: 11:76915139-76915139
GRCh38: 11:77204094-77204094
41 MYO7A NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys) SNV Likely pathogenic 632175 rs377267777 GRCh37: 11:76915228-76915228
GRCh38: 11:77204183-77204183
42 MYO7A NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg) SNV Likely pathogenic 560894 rs746667217 GRCh37: 11:76916548-76916548
GRCh38: 11:77205503-77205503
43 MYO7A NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) SNV Likely pathogenic 43295 rs199606180 GRCh37: 11:76917165-76917165
GRCh38: 11:77206120-77206120
44 MYO7A NM_000260.4(MYO7A):c.5856+5G>C SNV Likely pathogenic 562097 rs1386887007 GRCh37: 11:76918452-76918452
GRCh38: 11:77207407-77207407
45 MYO15A NM_016239.4(MYO15A):c.2456C>A (p.Ser819Ter) SNV Likely pathogenic 996594 GRCh37: 17:18024570-18024570
GRCh38: 17:18121256-18121256
46 MYO15A NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter) SNV Likely pathogenic 498654 rs781546107 GRCh37: 17:18025619-18025619
GRCh38: 17:18122305-18122305
47 MYO15A NM_016239.4(MYO15A):c.4528C>T (p.Gln1510Ter) SNV Likely pathogenic 375675 rs779077039 GRCh37: 17:18039070-18039070
GRCh38: 17:18135756-18135756
48 MYO15A NM_016239.4(MYO15A):c.4570C>T (p.Gln1524Ter) SNV Likely pathogenic 562083 rs1209665716 GRCh37: 17:18039112-18039112
GRCh38: 17:18135798-18135798
49 MYO15A NM_016239.4(MYO15A):c.5005C>T (p.Gln1669Ter) SNV Likely pathogenic 562078 rs1567641234 GRCh37: 17:18041558-18041558
GRCh38: 17:18138244-18138244
50 MYO15A NM_016239.4(MYO15A):c.8224+3A>G SNV Likely pathogenic 375677 rs1057519605 GRCh37: 17:18058072-18058072
GRCh38: 17:18154758-18154758

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 membrane GO:0016020 10.24 USH1G TMPRSS3 TMIE TMC1 TECTA SLC26A4
2 plasma membrane GO:0005886 10.13 USH1G TMC1 TECTA SLC26A4 PCDH15 OTOG
3 myosin complex GO:0016459 9.43 MYO7A MYO15A MYH9
4 connexin complex GO:0005922 9.4 GJB3 GJB2
5 actin cytoskeleton GO:0015629 9.35 USH1G TRIOBP MYO7A MYO15A MYH9
6 stereocilium base GO:0120044 9.16 TRIOBP MYO7A
7 stereocilium GO:0032420 9.02 PCDH15 MYO7A MYO15A LOXHD1 CDH23

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 inner ear development GO:0048839 9.58 PCDH15 MYO7A GJB2
2 inner ear morphogenesis GO:0042472 9.56 USH1G TMIE MYO7A MYO15A
3 photoreceptor cell maintenance GO:0045494 9.54 USH1G PCDH15 CDH23
4 inner ear receptor cell stereocilium organization GO:0060122 9.5 USH1G MYO7A CDH23
5 sensory perception of sound GO:0007605 9.5 USH1G TRIOBP TMPRSS3 TMIE TMC1 TECTA
6 vesicle transport along actin filament GO:0030050 9.49 MYO7A MYO15A
7 actin filament-based movement GO:0030048 9.48 MYO7A MYH9
8 auditory receptor cell stereocilium organization GO:0060088 9.46 TRIOBP MYO7A
9 sensory perception of light stimulus GO:0050953 9.46 USH1G PCDH15 MYO7A CDH23
10 inner ear receptor cell differentiation GO:0060113 9.43 USH1G MYO7A
11 equilibrioception GO:0050957 9.26 USH1G PCDH15 MYO7A CDH23

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.46 TRIOBP MYO7A MYO15A MYH9
2 motor activity GO:0003774 9.43 MYO7A MYO15A MYH9
3 gap junction channel activity GO:0005243 9.32 GJB3 GJB2
4 microfilament motor activity GO:0000146 9.13 MYO7A MYO15A MYH9
5 actin-dependent ATPase activity GO:0030898 8.8 MYO7A MYO15A MYH9

Sources for Autosomal Recessive Nonsyndromic Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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