MCID: DFN141
MIFTS: 42

Deafness, Autosomal Recessive 12

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

Aliases & Classifications for Deafness, Autosomal Recessive 12

MalaCards integrated aliases for Deafness, Autosomal Recessive 12:

Name: Deafness, Autosomal Recessive 12 54 29 13 69
Autosomal Recessive Nonsyndromic Deafness 12 12 14
Dfnb12 12 71
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12 71
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12 71
Congenital Neurosensory Deafness Autosomal Recessive 12 71
Deafness, Autosomal Recessive 12, Modifier of 54
Deafness, Autosomal Recessive, 12 71
Autosomal Recessive Deafness 12 12

Characteristics:

OMIM:

54
Miscellaneous:
allelic to usher syndrome, type id

Inheritance:
autosomal recessive


HPO:

32
deafness, autosomal recessive 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 601386
Disease Ontology 12 DOID:0110467
ICD10 33 H90.3
MedGen 40 C1832394
MeSH 42 D006319

Summaries for Deafness, Autosomal Recessive 12

UniProtKB/Swiss-Prot : 71 Deafness, autosomal recessive, 12: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Recessive 12, also known as autosomal recessive nonsyndromic deafness 12, is related to dfnb12 nonsyndromic hearing loss and deafness and deafness, autosomal dominant 11, and has symptoms including abnormality of the eye and prelingual sensorineural hearing impairment. An important gene associated with Deafness, Autosomal Recessive 12 is CDH23 (Cadherin Related 23), and among its related pathways/superpathways is WNT Signaling. Affiliated tissues include brain and eye, and related phenotypes are behavior/neurological and homeostasis/metabolism

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.

Description from OMIM: 601386

Related Diseases for Deafness, Autosomal Recessive 12

Diseases in the Familial Deafness family:

Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Dominant 70 Deafness, Autosomal Recessive 42
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 6/14/38 Deafness, Autosomal Recessive 25
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 24
Deafness, Autosomal Recessive 49 Deafness, Autosomal Dominant 1
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 104 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 10
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 39
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness Autosomal Recessive 106
Deafness, Autosomal Recessive 18b Deafness, Autosomal Dominant 59
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 8/12
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 102 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Recessive 107
Deafness, Autosomal Dominant 20/26 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 4a
Deafness, Autosomal Dominant 67 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 29 Deafness, Autosomal Recessive 8/10
Deafness, Autosomal Recessive 98 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 28
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
id Related Disease Score Top Affiliating Genes
1 dfnb12 nonsyndromic hearing loss and deafness 11.8
2 deafness, autosomal dominant 11 10.5 GJB2 MYO7A
3 epilepsy, idiopathic generalized 5 10.4 GJB2 PCDH15
4 diabetes persistent mullerian ducts 10.4 GJB2 MYO7A PCDH15
5 fascioliasis 10.3 GJB2 SLC26A4
6 cataract 26, multiple types 10.3 GJB2 SLC26A4
7 deafness, autosomal recessive 18a 10.3 CDH23 MYO7A USH1C
8 robinow syndrome, autosomal dominant 1 10.2 GJB2 MYO7A
9 leber congenital amaurosis 14 10.2 CDH23 GJB2 SLC26A4
10 deafness, autosomal recessive 23 10.2 MYO7A PCDH15 USH1C
11 ulnar neuropathy 10.2 CDH17 GJB2
12 bifid nose with or without anorectal and renal anomalies 10.2 CDH23 MYO7A SLC26A4
13 ectodermal dysplasia 6, hair/nail type 10.1 CDH23 MYO7A SLC26A4
14 hereditary breast ovarian cancer 10.1 MYO7A PCDH15 USH1C
15 severe combined immunodeficiency, athabascan type 10.1 GJB2 MYO7A SLC26A4
16 amelogenesis imperfecta, type ig 10.1 CDH23 MYO7A PCDH15 USH1C
17 usher syndrome 10.0
18 asthma-related traits 8 10.0 CDH23 MYO7A PCDH15 USH1C
19 retinitis pigmentosa 61 10.0 CDH23 MYO7A PCDH15 USH1C
20 usher syndrome type 1h 10.0 CDH23 MYO7A PCDH15 USH1C
21 nodular lichen myxedematosus 10.0 GJB2 MYO7A WFS1
22 autosomal recessive nonsyndromic deafness 8 10.0 CDH23 GJB2 MYO7A SLC26A4
23 x-linked nonsyndromic deafness 10.0 MYO7A WFS1
24 deafness, autosomal dominant 2a 10.0 GJB2 PCDH15 WFS1
25 trichomoniasis 9.9 CDH23 MYO7A PCDH15 USH1C
26 usher syndrome, type 1d 9.8
27 nonsyndromic deafness 9.8
28 viral laryngitis 9.8 GJB2 SLC26A4
29 brugada syndrome 9.8 CDH23 GJB2 MYO7A PCDH15 USH1C
30 lymphoplasmacytic lymphoma 9.7 MYO7A SLC26A4 WFS1
31 narcissistic personality disorder 9.7 CDH23 GJB2 MYO7A PCDH15 SLC26A4
32 microcephaly and chorioretinopathy, autosomal recessive, 3 9.6 GJB2 MYO7A SLC26A4 WFS1
33 deafness, autosomal recessive 53 9.5 GJB2 MYO7A SLC26A4 WFS1
34 trichohepatoenteric syndrome 1 9.5 CDH17 CDH23 MYO7A PCDH15 USH1C
35 deafness, autosomal recessive 2 9.5 CDH17 CDH23 MYO7A PCDH15 USH1C
36 congenital muscular dystrophy due to lmna mutation 9.4 CDH23 GJB2 MYO7A SLC26A4 WFS1
37 mixed lacrimal gland cancer 9.4 CDH23 GJB2 MYO7A SLC26A4 WFS1
38 dihydrolipoamide dehydrogenase deficiency 9.4 CDH23 GJB2 MYO7A SLC26A4 WFS1
39 endometritis 9.3 CDH23 GJB2 MYO7A SLC26A4 WFS1
40 hyperphenylalaninemia, mild, non-bh4-deficient 9.2 CDH17 CDH23 GJB2 MYO7A PCDH15 SLC26A4
41 discrete papular lichen myxedematosus 9.1 ATP2B2 CDH23 GJB2 MYO7A PCDH15 SLC26A4
42 autosomal recessive nonsyndromic deafness 8.7 CDH23 GJB2 MYO7A PCDH15 SLC26A4 USH1C
43 pituitary adenoma 5.0 ANK3 ATP2B2 CDH17 CDH23 GJB2 GNAZ

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 12:



Diseases related to Deafness, Autosomal Recessive 12

Symptoms & Phenotypes for Deafness, Autosomal Recessive 12

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
no retinitis pigmentosa

Head And Neck- Ears:
hearing loss, profound prelingual sensorineural


Clinical features from OMIM:

601386

Human phenotypes related to Deafness, Autosomal Recessive 12:

32
id Description HPO Frequency HPO Source Accession
1 abnormality of the eye 32 HP:0000478
2 prelingual sensorineural hearing impairment 32 HP:0000399

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 12:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 ANK3 ATP2B2 CDH23 GNAZ MYO7A PCDH15
2 homeostasis/metabolism MP:0005376 10 ATP2B2 CDH23 GJB2 GNAZ MMP11 MYO7A
3 hearing/vestibular/ear MP:0005377 9.87 ATP2B2 CDH23 GJB2 MYO7A PCDH15 SLC26A4
4 nervous system MP:0003631 9.85 ANK3 ATP2B2 CDH23 GJB2 GNAZ MYO7A
5 reproductive system MP:0005389 9.5 CDH23 GJB2 GNAZ MYO7A SLC26A4 USH1C
6 vision/eye MP:0005391 9.17 CDH23 GJB2 MYO7A PCBD1 PCDH15 TFAM

Drugs & Therapeutics for Deafness, Autosomal Recessive 12

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Deafness, Autosomal Recessive 12

Genetic Tests for Deafness, Autosomal Recessive 12

Genetic tests related to Deafness, Autosomal Recessive 12:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 12 29

Anatomical Context for Deafness, Autosomal Recessive 12

MalaCards organs/tissues related to Deafness, Autosomal Recessive 12:

39
Brain, Eye

Publications for Deafness, Autosomal Recessive 12

Variations for Deafness, Autosomal Recessive 12

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 12:

71 (show all 31)
id Symbol AA change Variation ID SNP ID
1 CDH23 p.Asp990Asn VAR_012169
2 CDH23 p.Asp2045Asn VAR_012182
3 CDH23 p.Asp2202Asn VAR_012183
4 CDH23 p.Ile2950Asn VAR_012187
5 CDH23 p.Arg2956Cys VAR_012188
6 CDH23 p.Pro3059Thr VAR_012189
7 CDH23 p.Asp124Gly VAR_027317
8 CDH23 p.Asn452Ser VAR_027319
9 CDH23 p.Leu480Gln VAR_027320
10 CDH23 p.Arg582Gln VAR_027322
11 CDH23 p.Arg1060Trp VAR_027323
12 CDH23 p.Gly1186Asp VAR_027324
13 CDH23 p.Asp1341Asn VAR_027326
14 CDH23 p.Ala1586Pro VAR_027328
15 CDH23 p.Glu1595Lys VAR_027329
16 CDH23 p.Asp1846Asn VAR_027331
17 CDH23 p.Phe1888Ser VAR_027333
18 CDH23 p.Asp2148Asn VAR_027336
19 CDH23 p.Arg2465Trp VAR_027339
20 CDH23 p.Arg2608His VAR_027341
21 CDH23 p.Pro240Leu VAR_046404 rs121908354
22 CDH23 p.Arg301Gln VAR_046405
23 CDH23 p.Arg1417Trp VAR_046414
24 CDH23 p.Gln1716Pro VAR_046418
25 CDH23 p.Arg2029Trp VAR_046425
26 CDH23 p.Asn342Ser VAR_071408
27 CDH23 p.Glu956Lys VAR_071413
28 CDH23 p.Thr1368Met VAR_071418
29 CDH23 p.Asp1626Ala VAR_071422
30 CDH23 p.Asn2287Lys VAR_071425
31 CDH23 p.Glu2438Lys VAR_071426

ClinVar genetic disease variations for Deafness, Autosomal Recessive 12:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 CDH23 NM_022124.5(CDH23): c.6133G> A (p.Asp2045Asn) single nucleotide variant Pathogenic rs121908348 GRCh37 Chromosome 10, 73550972: 73550972
2 CDH23 NM_022124.5(CDH23): c.6604G> A (p.Asp2202Asn) single nucleotide variant Pathogenic rs121908349 GRCh37 Chromosome 10, 73553289: 73553289
3 CDH23 NM_022124.5(CDH23): c.4021G> A (p.Asp1341Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121908351 GRCh37 Chromosome 10, 73492049: 73492049
4 CDH23 NM_022124.5(CDH23): c.5663T> C (p.Phe1888Ser) single nucleotide variant Pathogenic rs121908352 GRCh37 Chromosome 10, 73544808: 73544808
5 CDH23 NM_022124.5(CDH23): c.719C> T (p.Pro240Leu) single nucleotide variant Pathogenic rs121908354 GRCh37 Chromosome 10, 73330641: 73330641
6 CDH23 NM_022124.5(CDH23): c.1246_1266del21 (p.Ala416_Glu422del) deletion Likely pathogenic rs397517305 GRCh37 Chromosome 10, 73405693: 73405713
7 GJB2 NM_004004.5(GJB2): c.400T> C (p.Trp134Arg) single nucleotide variant Pathogenic rs878853241 GRCh37 Chromosome 13, 20763321: 20763321
8 CDH23 NM_022124.5(CDH23): c.478G> A (p.Asp160Asn) single nucleotide variant Likely pathogenic rs1057519500 GRCh37 Chromosome 10, 73326547: 73326547
9 CDH23 NM_001171932.1(CDH23): c.683A> T (p.Asp228Val) single nucleotide variant Pathogenic rs1060499788 GRCh38 Chromosome 10, 71570848: 71570848
10 CDH23 NM_001171932.1(CDH23): c.1036C> T (p.Pro346Ser) single nucleotide variant Pathogenic rs1060499791 GRCh37 Chromosome 10, 73377052: 73377052
11 CDH23 NM_001171932.1(CDH23): c.1037C> T (p.Pro346Leu) single nucleotide variant Pathogenic rs778251205 GRCh38 Chromosome 10, 71617296: 71617296
12 CDH23 NG_008835.1: g.285670C> T single nucleotide variant Pathogenic rs1060499792 GRCh37 Chromosome 10, 73437373: 73437373
13 CDH23 NM_022124.5(CDH23): c.3181G> A (p.Glu1061Lys) single nucleotide variant Pathogenic rs1060499793 GRCh37 Chromosome 10, 73468929: 73468929
14 CDH23 NM_022124.5(CDH23): c.5749G> A (p.Glu1917Lys) single nucleotide variant Pathogenic rs1060499789 GRCh38 Chromosome 10, 71785667: 71785667
15 CDH23 NM_022124.5(CDH23): c.8204T> C (p.Leu2735Pro) single nucleotide variant Pathogenic rs1060499790 GRCh38 Chromosome 10, 71807302: 71807302

Expression for Deafness, Autosomal Recessive 12

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 12.

Pathways for Deafness, Autosomal Recessive 12

Pathways related to Deafness, Autosomal Recessive 12 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.32 CDH17 CDH23 GNAZ TFAM

GO Terms for Deafness, Autosomal Recessive 12

Cellular components related to Deafness, Autosomal Recessive 12 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.55 ANK3 ATP2B2 MYO7A PCDH15 USH1C
2 photoreceptor outer segment GO:0001750 9.13 MYO7A PCDH15 USH1C
3 stereocilium GO:0032420 8.92 CDH23 MYO7A PCDH15 USH1C

Biological processes related to Deafness, Autosomal Recessive 12 according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.73 CDH23 MYO7A PCDH15 WFS1
2 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.65 CDH17 CDH23 PCDH15
3 inner ear development GO:0048839 9.58 GJB2 MYO7A PCDH15
4 inner ear receptor stereocilium organization GO:0060122 9.56 CDH23 MYO7A PCDH15 USH1C
5 photoreceptor cell maintenance GO:0045494 9.54 CDH23 PCDH15 USH1C
6 regulation of cytosolic calcium ion concentration GO:0051480 9.52 ATP2B2 CDH23
7 actin filament bundle assembly GO:0051017 9.51 PCDH15 USH1C
8 auditory receptor cell differentiation GO:0042491 9.5 MYO7A PCDH15 USH1C
9 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.49 CDH17 CDH23
10 auditory receptor cell stereocilium organization GO:0060088 9.46 MYO7A PCDH15
11 sensory perception of light stimulus GO:0050953 9.46 CDH23 MYO7A PCDH15 USH1C
12 equilibrioception GO:0050957 9.26 CDH23 MYO7A PCDH15 USH1C
13 sensory perception of sound GO:0007605 9.23 ATP2B2 CDH23 GJB2 MYO7A PCDH15 SLC26A4

Molecular functions related to Deafness, Autosomal Recessive 12 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 glutathione transferase activity GO:0004364 8.96 GSTT2 GSTT2B
2 spectrin binding GO:0030507 8.8 ANK3 MYO7A USH1C

Sources for Deafness, Autosomal Recessive 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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