DFNB12
MCID: DFN141
MIFTS: 40

Deafness, Autosomal Recessive 12 (DFNB12)

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

Aliases & Classifications for Deafness, Autosomal Recessive 12

MalaCards integrated aliases for Deafness, Autosomal Recessive 12:

Name: Deafness, Autosomal Recessive 12 57 29 13 6 72
Deafness, Autosomal Recessive 12, Modifier of 57 29 6
Dfnb12 57 12 74
Autosomal Recessive Nonsyndromic Deafness 12 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12 74
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12 74
Congenital Neurosensory Deafness Autosomal Recessive 12 74
Deafness, Autosomal Recessive, Type 12 40
Deafness, Autosomal Recessive, 12 74
Autosomal Recessive Deafness 12 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
allelic to usher syndrome, type id ()


HPO:

32
deafness, autosomal recessive 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110467
MeSH 44 D006319
ICD10 33 H90.3
MedGen 42 C1832394
UMLS 72 C1832394

Summaries for Deafness, Autosomal Recessive 12

UniProtKB/Swiss-Prot : 74 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 deafness, autosomal recessive 12, modifier of, is related to branchiootic syndrome 1 and retinitis pigmentosa-deafness syndrome. An important gene associated with Deafness, Autosomal Recessive 12 is CDH23 (Cadherin Related 23). Affiliated tissues include brain and eye, and related phenotypes are abnormality of the eye and prelingual sensorineural hearing impairment

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.

More information from OMIM: 601386 PS220290

Related Diseases for Deafness, Autosomal Recessive 12

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
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 3 Autosomal Recessive Nonsyndromic Deafness 32
Autosomal Recessive Nonsyndromic Deafness 36 Familial Deafness

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 30.2 MYO7A GJB2 CDH23
2 retinitis pigmentosa-deafness syndrome 29.7 PCDH15 MYO7A CDH23
3 usher syndrome, type i 29.7 PCDH15 MYO7A CDH23
4 usher syndrome, type id 29.7 PCDH15 MYO7A CDH23
5 dfnb1 29.2 PCDH15 MYO7A GJB2
6 usher syndrome 29.1 PCDH15 MYO7A GJB2 CDH23
7 retinitis pigmentosa 28.9 PCDH15 MYO7A GJB2 CDH23
8 sensorineural hearing loss 28.6 PCDH15 MYO7A GJB2 CDH23
9 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.2 PCDH15 MYO7A GJB2 CDH23 ATP2B2
10 nonsyndromic deafness 28.2 PCDH15 MYO7A MT-RNR1 GJB2 CDH23
11 autosomal recessive nonsyndromic deafness 10.4 GJB2 CDH23
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
13 neuroretinitis 10.2
14 retinitis 10.2
15 deafness, autosomal recessive 26 10.2 GJB2 CDH23
16 deafness, autosomal recessive 2 10.2 MYO7A GJB2
17 hodgkin's lymphoma, nodular sclerosis 10.1 MT-RNR1 GJB2
18 deafness, autosomal recessive 3 10.1 MYO7A GJB2
19 deafness, autosomal recessive 7 10.1 MT-RNR1 GJB2
20 deafness, autosomal dominant 36 10.1 MT-RNR1 GJB2
21 congenital cytomegalovirus 10.1 MT-RNR1 GJB2
22 yemenite deaf-blind hypopigmentation syndrome 10.1
23 age-related hearing loss 10.1
24 deafness, autosomal recessive 83 10.0 MYO7A CDH23
25 deafness, autosomal recessive 85 10.0 MYO7A CDH23
26 auditory neuropathy spectrum disorder 9.9 MYO7A MT-RNR1
27 deafness, autosomal recessive 6 9.9 MYO7A GJB2
28 deafness, autosomal recessive 16 9.9 MYO7A GJB2
29 usher syndrome, type ic 9.8 MYO7A CDH23
30 deafness, autosomal recessive 33 9.8 PCDH15 GJB2
31 autosomal recessive nonsyndromic deafness 3 9.8 MYO7A GJB2 CDH23
32 deafness, autosomal dominant 6 9.8 MYO7A GJB2 CDH23
33 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 MYO7A GJB2 CDH23
34 deafness, autosomal dominant 13 9.7 MYO7A GJB2
35 deafness, autosomal dominant 2a 9.6 PCDH15 GJB2
36 deafness, autosomal recessive 30 9.6 MYO7A MT-RNR1 GJB2
37 usher syndrome, type ig 9.4 PCDH15 MYO7A CDH23
38 usher syndrome, type if 9.4 PCDH15 MYO7A CDH23
39 usher syndrome, type iid 9.4 PCDH15 MYO7A CDH23
40 usher syndrome, type iiia 9.4 PCDH15 MYO7A CDH23
41 usher syndrome, type iic 9.4 PCDH15 MYO7A CDH23
42 usher syndrome type 2 9.4 PCDH15 MYO7A CDH23
43 inner ear disease 9.3 MYO7A MT-RNR1 GJB2 CDH23
44 deafness, autosomal recessive 23 9.1 PCDH15 MYO7A GJB2 CDH23
45 bardet-biedl syndrome 8.8 PCDH15 MYO7A CDH23
46 auditory system disease 8.6 PCDH15 MYO7A MT-RNR1 GJB2 CDH23

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

Human phenotypes related to Deafness, Autosomal Recessive 12:

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, profound prelingual sensorineural

Head And Neck Eyes:
no retinitis pigmentosa

Clinical features from OMIM:

601386

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 12:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.35 ATP2B2 CDH23 GJB2 MYO7A PCDH15
2 vision/eye MP:0005391 9.02 CDH23 GJB2 MYO7A PCBD1 PCDH15

Drugs & Therapeutics for Deafness, Autosomal Recessive 12

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 12

Genetic Tests for Deafness, Autosomal Recessive 12

Genetic tests related to Deafness, Autosomal Recessive 12:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 12 29 ATP2B2 CDH23
2 Deafness, Autosomal Recessive 12, Modifier of 29

Anatomical Context for Deafness, Autosomal Recessive 12

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

41
Brain, Eye

Publications for Deafness, Autosomal Recessive 12

Articles related to Deafness, Autosomal Recessive 12:

(show all 35)
# Title Authors PMID Year
1
Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. 38 8 71
17850630 2007
2
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. 38 8 71
11090341 2001
3
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. 38 8
21940737 2011
4
A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. 38 8
19270079 2009
5
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. 38 71
12522556 2003
6
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. 38 71
12075507 2002
7
Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22. 38 8
8817348 1996
8
Analysis of protein-coding genetic variation in 60,706 humans. 71
27535533 2016
9
Modification of human hearing loss by plasma-membrane calcium pump PMCA2. 71
15829536 2005
10
Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss. 71
12910270 2003
11
Hereditary Hearing Loss and Deafness Overview 71
20301607 1999
12
Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers. 71
2706105 1989
13
Recombinant protein of the first two ectodomains of cadherin 23 from erl mice shows impairment in Ca2+-dependent proteolysis protection. 38
29486248 2018
14
Recurrence of reported CDH23 mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families - an evaluation. 38
29148562 2018
15
A novel variant in the CDH23 gene is associated with non-syndromic hearing loss in a Chinese family. 38
29287849 2018
16
Tauroursodeoxycholic acid prevents hearing loss and hair cell death in Cdh23(erl/erl) mice. 38
26748055 2016
17
Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23. 38
26878454 2016
18
Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans. 38
27792758 2016
19
Molecular Distribution of Deafness Loci in Various Ethnic Groups of the Punjab, Pakistan. 38
26305302 2015
20
Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches. 38
25231367 2014
21
[Recent research on the development mechanism of DFNB12]. 38
24507011 2013
22
Otoprotective effects of erythropoietin on Cdh23erl/erl mice. 38
23384607 2013
23
A new mouse mutant of the Cdh23 gene with early-onset hearing loss facilitates evaluation of otoprotection drugs. 38
20644563 2012
24
An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice. 38
21689626 2011
25
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. 38
19375528 2009
26
Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing. 38
18273900 2008
27
Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum. 38
16550584 2006
28
Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region. 38
16281288 2006
29
Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development. 38
15882574 2005
30
Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12). 38
15353998 2004
31
Clinical presentation of DFNB12 and Usher syndrome type 1D. 38
12408077 2002
32
Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice. 38
11386759 2001
33
Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. 38
11138008 2001
34
DFNB9 and DFNB12. 38
10868229 2000
35
Fine genetic and comparative mapping of the deafness mutation Ames waltzer on mouse chromosome 10. 38
9653653 1998

Variations for Deafness, Autosomal Recessive 12

ClinVar genetic disease variations for Deafness, Autosomal Recessive 12:

6 (show top 50) (show all 62)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CDH23 NM_022124.6(CDH23): c.683A> T (p.Asp228Val) single nucleotide variant Pathogenic rs1060499788 10:73330605-73330605 10:71570848-71570848
2 CDH23 NM_022124.6(CDH23): c.1036C> T (p.Pro346Ser) single nucleotide variant Pathogenic rs1060499791 10:73377052-73377052 10:71617295-71617295
3 CDH23 NM_022124.6(CDH23): c.1037C> T (p.Pro346Leu) single nucleotide variant Pathogenic rs778251205 10:73377053-73377053 10:71617296-71617296
4 CDH23 NM_022124.6(CDH23): c.1675C> T (p.Pro559Ser) single nucleotide variant Pathogenic rs1060499792 10:73437373-73437373 10:71677616-71677616
5 CDH23 NM_022124.6(CDH23): c.3181G> A (p.Glu1061Lys) single nucleotide variant Pathogenic rs1060499793 10:73468929-73468929 10:71709172-71709172
6 CDH23 NM_022124.6(CDH23): c.5749G> A (p.Glu1917Lys) single nucleotide variant Pathogenic rs1060499789 10:73545424-73545424 10:71785667-71785667
7 CDH23 NM_022124.6(CDH23): c.8204T> C (p.Leu2735Pro) single nucleotide variant Pathogenic rs1060499790 10:73567059-73567059 10:71807302-71807302
8 CDH23 NM_022124.6(CDH23): c.2132_2136del (p.Tyr711fs) deletion Pathogenic rs1554856042 10:73450297-73450301 10:71690540-71690544
9 CDH23 NM_022124.6(CDH23): c.1934A> G (p.Asp645Gly) single nucleotide variant Pathogenic rs1390562340 10:73442277-73442277 10:71682520-71682520
10 CDH23 NM_022124.6(CDH23): c.4877A> C (p.Asp1626Ala) single nucleotide variant Pathogenic rs1554871816 10:73537468-73537468 10:71777711-71777711
11 CDH23 NM_022124.6(CDH23): c.5147A> C (p.Gln1716Pro) single nucleotide variant Pathogenic rs758382198 10:73538025-73538025 10:71778268-71778268
12 CDH23 NM_022124.6(CDH23): c.6085C> T (p.Arg2029Trp) single nucleotide variant Pathogenic rs750880909 10:73550924-73550924 10:71791167-71791167
13 CDH23 NM_022124.6(CDH23): c.6667del (p.Leu2223fs) deletion Pathogenic rs1554874879 10:73553352-73553352 10:71793595-71793595
14 CDH23 NM_022124.6(CDH23): c.6712+1G> A single nucleotide variant Pathogenic rs1554874900 10:73553398-73553398 10:71793641-71793641
15 CDH23 NM_022124.6(CDH23): c.7312G> A (p.Glu2438Lys) single nucleotide variant Pathogenic rs1264310782 10:73559336-73559336 10:71799579-71799579
16 CDH23 NM_022124.6(CDH23): c.9129del (p.Asn3044fs) deletion Pathogenic rs1554877797 10:73571123-73571123 10:71811366-71811366
17 CDH23 NM_022124.6(CDH23): c.5237G> A (p.Arg1746Gln) single nucleotide variant Pathogenic rs111033270 10:73539073-73539073 10:71779316-71779316
18 CDH23 NM_022124.6(CDH23): c.6133G> A (p.Asp2045Asn) single nucleotide variant Pathogenic rs121908348 10:73550972-73550972 10:71791215-71791215
19 CDH23 NM_022124.6(CDH23): c.5663T> C (p.Phe1888Ser) single nucleotide variant Pathogenic rs121908352 10:73544808-73544808 10:71785051-71785051
20 CDH23 NM_022124.6(CDH23): c.719C> T (p.Pro240Leu) single nucleotide variant Pathogenic rs121908354 10:73330641-73330641 10:71570884-71570884
21 CDH23 NM_022124.6(CDH23): c.4309C> T (p.Arg1437Ter) single nucleotide variant Pathogenic rs397517329 10:73498354-73498354 10:71738597-71738597
22 CDH23 NM_022124.6(CDH23): c.6050-9G> A single nucleotide variant Pathogenic rs367928692 10:73550880-73550880 10:71791123-71791123
23 GJB2 NM_004004.6(GJB2): c.400T> C (p.Trp134Arg) single nucleotide variant Pathogenic rs878853241 13:20763321-20763321 13:20189182-20189182
24 CDH23 NM_022124.6(CDH23): c.8920G> T (p.Glu2974Ter) single nucleotide variant Pathogenic 10:73569774-73569774 10:71810017-71810017
25 CDH23 NM_022124.6(CDH23): c.3579+1G> A single nucleotide variant Pathogenic 10:73485278-73485278 10:71725521-71725521
26 CDH23 NM_022124.6(CDH23): c.5369-1G> T single nucleotide variant Pathogenic 10:73544043-73544043 10:71784286-71784286
27 CDH23 NM_022124.6(CDH23): c.6083A> C (p.Asp2028Ala) single nucleotide variant Pathogenic 10:73550922-73550922 10:71791165-71791165
28 CDH23 NM_022124.6(CDH23): c.8061C> G (p.Tyr2687Ter) single nucleotide variant Likely pathogenic 10:73565751-73565751 10:71805994-71805994
29 CDH23 NM_022124.6(CDH23): c.6067_6070dup (p.Gly2024fs) duplication Likely pathogenic 10:73550904-73550905 10:71791149-71791152
30 CDH23 NM_022124.6(CDH23): c.4021G> A (p.Asp1341Asn) single nucleotide variant Likely pathogenic rs121908351 10:73492049-73492049 10:71732292-71732292
31 CDH23 NM_022124.6(CDH23): c.6049G> A (p.Gly2017Ser) single nucleotide variant Likely pathogenic rs183431253 10:73550170-73550170 10:71790413-71790413
32 ATP2B2 NM_001001331.4(ATP2B2): c.1891G> A (p.Val631Met) single nucleotide variant risk factor rs61736451 3:10401576-10401576 3:10359892-10359892
33 CDH23 NM_022124.6(CDH23): c.478G> A (p.Asp160Asn) single nucleotide variant Likely pathogenic rs1057519500 10:73326547-73326547 10:71566790-71566790
34 CDH23 NM_022124.6(CDH23): c.6604G> A (p.Asp2202Asn) single nucleotide variant Likely pathogenic rs121908349 10:73553289-73553289 10:71793532-71793532
35 CDH23 NM_022124.6(CDH23): c.5653C> T (p.Arg1885Cys) single nucleotide variant Likely pathogenic rs368848049 10:73544798-73544798 10:71785041-71785041
36 CDH23 NM_022124.6(CDH23): c.6442G> A (p.Asp2148Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs111033271 10:73553127-73553127 10:71793370-71793370
37 CDH23 NM_022124.6(CDH23): c.2866G> A (p.Glu956Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs756147087 10:73464800-73464800 10:71705043-71705043
38 CDH23 NM_022124.6(CDH23): c.2263C> T (p.His755Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs181255269 10:73453990-73453990 10:71694233-71694233
39 CDH23 NM_022124.6(CDH23): c.6866A> G (p.Asn2289Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs876657756 10:73558147-73558147 10:71798390-71798390
40 CDH23 NM_022124.6(CDH23): c.7903G> T (p.Val2635Phe) single nucleotide variant Uncertain significance rs763721044 10:73565593-73565593 10:71805836-71805836
41 CDH23 NM_022124.6(CDH23): c.4103C> T (p.Thr1368Met) single nucleotide variant Uncertain significance rs762247872 10:73492131-73492131 10:71732374-71732374
42 CDH23 NM_022124.6(CDH23): c.4662C> A (p.Asp1554Glu) single nucleotide variant Uncertain significance 10:73501495-73501495 10:71741738-71741738
43 CDH23 NM_022124.6(CDH23): c.5747G> A (p.Arg1916His) single nucleotide variant Uncertain significance 10:73545422-73545422 10:71785665-71785665
44 CDH23 NM_022124.6(CDH23): c.6911G> A (p.Arg2304Gln) single nucleotide variant Uncertain significance rs201434373 10:73558192-73558192 10:71798435-71798435
45 CDH23 NM_022124.6(CDH23): c.7468G> A (p.Glu2490Lys) single nucleotide variant Uncertain significance rs41281336 10:73560498-73560498 10:71800741-71800741
46 CDH23 NM_022124.6(CDH23): c.9569C> T (p.Ala3190Val) single nucleotide variant Uncertain significance rs111033536 10:73572583-73572583 10:71812826-71812826
47 CDH23 NM_022124.6(CDH23): c.7049C> T (p.Ser2350Leu) single nucleotide variant Uncertain significance rs371522435 10:73558330-73558330 10:71798573-71798573
48 CDH23 NM_022124.6(CDH23): c.2236G> A (p.Val746Ile) single nucleotide variant Uncertain significance rs550384315 10:73453963-73453963 10:71694206-71694206
49 CDH23 NM_022124.6(CDH23): c.4405A> G (p.Ile1469Val) single nucleotide variant Uncertain significance rs200635365 10:73499446-73499446 10:71739689-71739689
50 CDH23 NM_022124.6(CDH23): c.7517G> A (p.Arg2506Gln) single nucleotide variant Uncertain significance rs727502932 10:73562689-73562689 10:71802932-71802932

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

74 (show all 31)
# Symbol AA change Variation ID SNP ID
1 CDH23 p.Asp990Asn VAR_012169 rs771766431
2 CDH23 p.Asp2045Asn VAR_012182 rs121908348
3 CDH23 p.Asp2202Asn VAR_012183 rs121908349
4 CDH23 p.Ile2950Asn VAR_012187 rs752937051
5 CDH23 p.Arg2956Cys VAR_012188 rs751367894
6 CDH23 p.Pro3059Thr VAR_012189 rs780514498
7 CDH23 p.Asp124Gly VAR_027317 rs751192273
8 CDH23 p.Asn452Ser VAR_027319 rs375646885
9 CDH23 p.Leu480Gln VAR_027320 rs767928788
10 CDH23 p.Arg582Gln VAR_027322 rs200263980
11 CDH23 p.Arg1060Trp VAR_027323 rs201536811
12 CDH23 p.Gly1186Asp VAR_027324
13 CDH23 p.Asp1341Asn VAR_027326 rs121908351
14 CDH23 p.Ala1586Pro VAR_027328 rs573737471
15 CDH23 p.Glu1595Lys VAR_027329 rs778204574
16 CDH23 p.Asp1846Asn VAR_027331 rs746323558
17 CDH23 p.Phe1888Ser VAR_027333 rs121908352
18 CDH23 p.Asp2148Asn VAR_027336 rs111033271
19 CDH23 p.Arg2465Trp VAR_027339 rs760879110
20 CDH23 p.Arg2608His VAR_027341 rs202052174
21 CDH23 p.Pro240Leu VAR_046404 rs121908354
22 CDH23 p.Arg301Gln VAR_046405 rs121908355
23 CDH23 p.Arg1417Trp VAR_046414 rs756231829
24 CDH23 p.Gln1716Pro VAR_046418
25 CDH23 p.Arg2029Trp VAR_046425 rs750880909
26 CDH23 p.Asn342Ser VAR_071408 rs145106249
27 CDH23 p.Glu956Lys VAR_071413 rs756147087
28 CDH23 p.Thr1368Met VAR_071418 rs762247872
29 CDH23 p.Asp1626Ala VAR_071422 rs155487181
30 CDH23 p.Asn2287Lys VAR_071425
31 CDH23 p.Glu2438Lys VAR_071426 rs126431078

Expression for Deafness, Autosomal Recessive 12

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

Pathways for Deafness, Autosomal Recessive 12

GO Terms for Deafness, Autosomal Recessive 12

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

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.96 PCDH15 MYO7A
2 stereocilium GO:0032420 8.8 PCDH15 MYO7A CDH23

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.61 PCDH15 MYO7A CDH23
2 inner ear development GO:0048839 9.5 PCDH15 MYO7A GJB2
3 locomotory behavior GO:0007626 9.49 PCDH15 CDH23
4 regulation of cytosolic calcium ion concentration GO:0051480 9.48 CDH23 ATP2B2
5 photoreceptor cell maintenance GO:0045494 9.46 PCDH15 CDH23
6 inner ear receptor cell stereocilium organization GO:0060122 9.43 PCDH15 MYO7A CDH23
7 auditory receptor cell stereocilium organization GO:0060088 9.4 PCDH15 MYO7A
8 inner ear auditory receptor cell differentiation GO:0042491 9.37 PCDH15 MYO7A
9 sensory perception of light stimulus GO:0050953 9.33 PCDH15 MYO7A CDH23
10 equilibrioception GO:0050957 9.13 PCDH15 MYO7A CDH23
11 sensory perception of sound GO:0007605 9.02 PCDH15 MYO7A GJB2 CDH23 ATP2B2

Sources for Deafness, Autosomal Recessive 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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