DFNB23
MCID: DFN093
MIFTS: 39

Deafness, Autosomal Recessive 23 (DFNB23)

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

Aliases & Classifications for Deafness, Autosomal Recessive 23

MalaCards integrated aliases for Deafness, Autosomal Recessive 23:

Name: Deafness, Autosomal Recessive 23 57 29 13 6 70
Dfnb23 57 12 72
Autosomal Recessive Nonsyndromic Deafness 23 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 23 72
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 23 72
Deafness, Autosomal Recessive, Type 23 39
Deafness, Autosomal Recessive, 23 72
Autosomal Recessive Deafness 23 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset
allelic disorder to usher syndrome type 1f


HPO:

31
deafness, autosomal recessive 23:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110481
OMIM® 57 609533
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1836027
SNOMED-CT via HPO 68 258211005 60700002
UMLS 70 C1836027

Summaries for Deafness, Autosomal Recessive 23

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 23: 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 23, also known as dfnb23, is related to nonsyndromic deafness and dfnb1. An important gene associated with Deafness, Autosomal Recessive 23 is PCDH15 (Protocadherin Related 15). Affiliated tissues include eye, and related phenotypes are sensorineural hearing impairment and behavior/neurological

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 PCDH15 gene on chromosome 10q21.

More information from OMIM: 609533 PS220290

Related Diseases for Deafness, Autosomal Recessive 23

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
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 Deafness, Autosomal Recessive 23 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 30.1 PCDH15 GJB2
2 dfnb1 29.8 PCDH15 MYO7A GJB2
3 deafness, autosomal recessive 1a 29.6 TMC1 MYO7A GJB2
4 retinitis pigmentosa-deafness syndrome 29.1 WHRN USH2A USH1G USH1C PCDH15 MYO7A
5 branchiootic syndrome 1 28.5 WHRN USH2A USH1G TMC1 PTPRQ MYO7A
6 usher syndrome, type if 28.3 WHRN USH2A USH1G USH1C PCDH15 MYO7A
7 deafness, autosomal recessive 2 28.2 WHRN USH1G USH1C TMC1 PCDH15 MYO7A
8 rare genetic deafness 28.1 WHRN USH2A USH1C TMC1 PCDH15 MYO7A
9 autosomal recessive non-syndromic sensorineural deafness type dfnb 27.2 WHRN USH2A USH1G USH1C TMC1 PTPRQ
10 usher syndrome 26.8 WHRN USH2A USH1G USH1C TMC1 PTPRQ
11 usher syndrome, type i 26.7 WHRN USH2A USH1G USH1C TMC1 PTPRQ
12 retinitis pigmentosa 26.5 WHRN USH2A USH1G USH1C TMC1 PTPRQ
13 deafness, autosomal recessive 12 26.3 WHRN USH2A USH1G USH1C TMC1 PTPRQ
14 rare deafness 10.4 PCDH15 CDH23
15 deafness, autosomal dominant 65 10.3 WHRN PCDH15
16 acute hemorrhagic leukoencephalitis 10.3 USH1G CDH23
17 deafness, autosomal dominant 48 10.3 MYO7A MYO15A
18 deafness, autosomal recessive 57 10.3 WHRN ADGRV1
19 deafness, autosomal recessive 100 10.3 MYO7A ADGRV1
20 deafness, autosomal recessive 62 10.2 CDH23 ADGRV1
21 deafness, autosomal recessive 102 10.2 WHRN MYO15A
22 deafness, autosomal recessive 86 10.2 WHRN PCDH15 CDH23
23 autosomal recessive nonsyndromic deafness 36 10.2 WHRN USH1C PCDH15
24 y-linked deafness 10.2 TMC1 PCDH15
25 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 10.2 PCDH15 CDH23
26 deafness, autosomal dominant 17 10.2 MYO7A MYO15A
27 deafness, autosomal recessive 83 10.2 MYO7A MYO15A CDH23
28 y-linked monogenic disease 10.1 TMC1 PCDH15 CDH23
29 deafness, autosomal dominant 15 10.1 TMC1 MYO7A
30 labyrinthitis 10.1 MYO7A GJB2
31 deafness, autosomal recessive 48 10.1 WHRN TMC1 MYO7A
32 drug-induced hearing loss 10.1 MYO7A GJB2
33 deafness, autosomal dominant 20 10.1 USH1G TMC1 CDH23
34 nonsyndromic retinitis pigmentosa 10.1 USH2A CLRN1
35 deafness, autosomal recessive 91 10.1 GJB2 CDH23
36 deafness, autosomal recessive 96 10.1 LRRC18 GJD4
37 deafness, autosomal recessive 77 10.1 GJB2 CDH23
38 deafness, autosomal recessive 33 10.1 LRRC18 GJD4
39 deafness, autosomal recessive 30 10.1 WHRN PCDH15 MYO7A MYO15A
40 deafness, autosomal dominant 41 10.1 GJB2 CDH23
41 deafness, autosomal recessive 63 10.0 TMC1 MYO7A MYO15A
42 yemenite deaf-blind hypopigmentation syndrome 10.0 USH2A MYO7A
43 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
44 deafness, autosomal recessive 84a 10.0 PTPRQ CDH23
45 deafness, autosomal recessive 49 10.0 MYO15A GJB2
46 late-onset retinal degeneration 10.0 WHRN USH2A ADGRV1
47 deafness, autosomal recessive 3 10.0 MYO7A MYO15A GJB2
48 deafness, autosomal recessive 1b 10.0 MYO15A GJB2
49 deafness, autosomal recessive 18a 10.0 USH1C PCDH15 MYO7A MYO15A CDH23
50 deafness, autosomal dominant 9 9.9 MYO7A GJB2

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 23:



Diseases related to Deafness, Autosomal Recessive 23

Symptoms & Phenotypes for Deafness, Autosomal Recessive 23

Human phenotypes related to Deafness, Autosomal Recessive 23:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
normal vision

Head And Neck Ears:
deafness, neurosensory
severe to profound deafness

Clinical features from OMIM®:

609533 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 23:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ADGRV1 CDH23 CLRN1 GJD4 MYO15A MYO7A
2 hearing/vestibular/ear MP:0005377 9.97 ADGRV1 CDH23 CLRN1 GJB2 MYO15A MYO7A
3 nervous system MP:0003631 9.77 ADGRV1 CDH23 CLRN1 GJB2 MYO15A MYO7A
4 vision/eye MP:0005391 9.36 ADGRV1 CDH23 CLRN1 GJB2 MYO15A MYO7A

Drugs & Therapeutics for Deafness, Autosomal Recessive 23

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 23

Genetic Tests for Deafness, Autosomal Recessive 23

Genetic tests related to Deafness, Autosomal Recessive 23:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 23 29 PCDH15

Anatomical Context for Deafness, Autosomal Recessive 23

MalaCards organs/tissues related to Deafness, Autosomal Recessive 23:

40
Eye

Publications for Deafness, Autosomal Recessive 23

Articles related to Deafness, Autosomal Recessive 23:

(show all 15)
# Title Authors PMID Year
1
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. 61 57 6
19107147 2009
2
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. 6 57 61
14570705 2003
3
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I. 6 61
22815625 2012
4
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
5
Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F. 6
25307757 2014
6
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. 6
25262649 2014
7
Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing. 6
24105371 2014
8
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. 6
12711741 2003
9
Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23. 61
25930172 2015
10
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. 61
19375528 2009
11
Characterization of the Kyoto circling (KCI) rat carrying a spontaneous nonsense mutation in the protocadherin 15 (Pcdh15) gene. 61
19151506 2009
12
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. 61
18719945 2008
13
Development of outer hair cells in Ames waltzer mice: mutation in protocadherin 15 affects development of cuticular plate and associated structures. 61
18085631 2008
14
Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts. 61
16799054 2006
15
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. 61
16807332 2006

Variations for Deafness, Autosomal Recessive 23

ClinVar genetic disease variations for Deafness, Autosomal Recessive 23:

6 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PCDH15 NM_033056.4(PCDH15):c.785G>A (p.Gly262Asp) SNV Pathogenic 4935 rs137853002 GRCh37: 10:56077122-56077122
GRCh38: 10:54317362-54317362
2 PCDH15 NM_033056.4(PCDH15):c.1583T>A (p.Val528Asp) SNV Pathogenic 18429 rs267606932 GRCh37: 10:55943211-55943211
GRCh38: 10:54183451-54183451
3 PCDH15 NM_001142769.3(PCDH15):c.4726C>T (p.Gln1576Ter) SNV Pathogenic 402273 rs1056396947 GRCh37: 10:55569099-55569099
GRCh38: 10:53809339-53809339
4 PCDH15 NM_033056.4(PCDH15):c.400C>G (p.Arg134Gly) SNV Pathogenic 4936 rs137853003 GRCh37: 10:56128954-56128954
GRCh38: 10:54369194-54369194
5 PCDH15 NC_000010.10:g.(55839185_55849743)_(55892768_55912859)del Deletion Pathogenic 619174 GRCh37: 10:55839185-55912859
GRCh38: 10:54079425-54153099
6 PCDH15 NM_033056.4(PCDH15):c.2361_2363TGT[2] (p.Val790del) Microsatellite Pathogenic 126521 rs483352837 GRCh37: 10:55782809-55782811
GRCh38: 10:54023049-54023051
7 PCDH15 NM_033056.4(PCDH15):c.3316C>T (p.Arg1106Ter) SNV Pathogenic 46464 rs202033121 GRCh37: 10:55698632-55698632
GRCh38: 10:53938872-53938872
8 PCDH15 NM_033056.4(PCDH15):c.2785C>T (p.Arg929Ter) SNV Pathogenic 370242 rs1057516342 GRCh37: 10:55755492-55755492
GRCh38: 10:53995732-53995732
9 PCDH15 NM_033056.4(PCDH15):c.788C>A (p.Pro263Gln) SNV Pathogenic 562080 rs1564949059 GRCh37: 10:56077119-56077119
GRCh38: 10:54317359-54317359
10 PCDH15 NM_033056.4(PCDH15):c.7C>T (p.Arg3Ter) SNV Pathogenic 4931 rs137853001 GRCh37: 10:56424016-56424016
GRCh38: 10:54664256-54664256
11 PCDH15 , LOC105378311 NM_033056.4(PCDH15):c.131T>C (p.Val44Ala) SNV Pathogenic 450626 rs750302536 GRCh37: 10:56287598-56287598
GRCh38: 10:54527838-54527838
12 PCDH15 NM_001384140.1(PCDH15):c.3667_3668del (p.Ile1223fs) Deletion Pathogenic 1027565 GRCh37: 10:55626451-55626452
GRCh38: 10:53866691-53866692
13 PCDH15 NM_033056.4(PCDH15):c.1737C>G (p.Tyr579Ter) SNV Pathogenic 371411 rs1057517251 GRCh37: 10:55912907-55912907
GRCh38: 10:54153147-54153147
14 PCDH15 NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) SNV Pathogenic 4933 rs111033260 GRCh37: 10:56077174-56077174
GRCh38: 10:54317414-54317414
15 PCDH15 NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) SNV Pathogenic 4933 rs111033260 GRCh37: 10:56077174-56077174
GRCh38: 10:54317414-54317414
16 PCDH15 NM_001384140.1(PCDH15):c.3319G>C (p.Val1107Leu) SNV Pathogenic 1029008 GRCh37: 10:55698629-55698629
GRCh38: 10:53938869-53938869
17 PCDH15 NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter) Duplication Pathogenic 179400 rs730880357 GRCh37: 10:55582801-55582802
GRCh38: 10:53823041-53823042
18 PCDH15 NM_001384140.1(PCDH15):c.4368-1737del Deletion Pathogenic 1029010 GRCh37: 10:55581727-55581727
GRCh38: 10:53821967-53821967
19 PCDH15 NM_001384140.1(PCDH15):c.4368-2793dup Duplication Pathogenic 1032316 GRCh37: 10:55582779-55582780
GRCh38: 10:53823019-53823020
20 PCDH15 NM_033056.4(PCDH15):c.2869-1G>T SNV Likely pathogenic 558261 rs1554883705 GRCh37: 10:55721653-55721653
GRCh38: 10:53961893-53961893
21 PCDH15 NM_001384140.1(PCDH15):c.574C>T (p.Gln192Ter) SNV Likely pathogenic 992995 GRCh37: 10:56106145-56106145
GRCh38: 10:54346385-54346385
22 PCDH15 NM_001142771.2(PCDH15):c.4816dup (p.Met1606fs) Duplication Likely pathogenic 587635 rs766484375 GRCh37: 10:55566571-55566572
GRCh38: 10:53806811-53806812
23 PCDH15 NM_033056.4(PCDH15):c.2581G>A (p.Val861Met) SNV Uncertain significance 300188 rs142512524 GRCh37: 10:55780122-55780122
GRCh38: 10:54020362-54020362
24 PCDH15 NM_033056.4(PCDH15):c.1900G>A (p.Val634Ile) SNV Uncertain significance 300192 rs146199636 GRCh37: 10:55892652-55892652
GRCh38: 10:54132892-54132892
25 PCDH15 NM_033056.4(PCDH15):c.1205G>C (p.Gly402Ala) SNV Uncertain significance 281800 rs145017164 GRCh37: 10:55955543-55955543
GRCh38: 10:54195783-54195783
26 PCDH15 NM_033056.4(PCDH15):c.3857T>A (p.Val1286Glu) SNV Uncertain significance 417942 rs375292203 GRCh37: 10:55600206-55600206
GRCh38: 10:53840446-53840446
27 PCDH15 NM_033056.4(PCDH15):c.3817C>A (p.Arg1273Ser) SNV Uncertain significance 46475 rs111033363 GRCh37: 10:55600246-55600246
GRCh38: 10:53840486-53840486
28 PCDH15 NM_033056.4(PCDH15):c.2102C>T (p.Ala701Val) SNV Uncertain significance 164921 rs199537178 GRCh37: 10:55826635-55826635
GRCh38: 10:54066875-54066875
29 PCDH15 NM_033056.4(PCDH15):c.3131C>T (p.Pro1044Leu) SNV Uncertain significance 46462 rs397517455 GRCh37: 10:55700727-55700727
GRCh38: 10:53940967-53940967
30 PCDH15 NM_001384140.1(PCDH15):c.4368-2157C>A SNV Uncertain significance 1029009 GRCh37: 10:55582147-55582147
GRCh38: 10:53822387-53822387

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 23:

72
# Symbol AA change Variation ID SNP ID
1 PCDH15 p.Arg134Gly VAR_024035 rs137853003
2 PCDH15 p.Gly262Asp VAR_024036 rs137853002

Expression for Deafness, Autosomal Recessive 23

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 23.

Pathways for Deafness, Autosomal Recessive 23

GO Terms for Deafness, Autosomal Recessive 23

Cellular components related to Deafness, Autosomal Recessive 23 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.3 WHRN USH2A USH1G USH1C TMC1 PCDH15
2 synapse GO:0045202 9.95 WHRN USH1C PCDH15 MYO7A ADGRV1
3 ciliary basal body GO:0036064 9.73 WHRN USH2A USH1G
4 photoreceptor outer segment GO:0001750 9.69 USH1C PCDH15 MYO7A
5 microvillus GO:0005902 9.67 USH1C MYO7A CLRN1
6 photoreceptor connecting cilium GO:0032391 9.65 WHRN USH2A USH1G USH1C MYO7A
7 stereocilium tip GO:0032426 9.63 WHRN USH1C TMC1
8 stereocilium bundle GO:0032421 9.62 WHRN USH2A PTPRQ MYO15A
9 periciliary membrane compartment GO:1990075 9.61 WHRN USH2A ADGRV1
10 USH2 complex GO:1990696 9.58 WHRN USH2A ADGRV1
11 connexin complex GO:0005922 9.54 GJD4 GJB2
12 stereocilia ankle link GO:0002141 9.54 WHRN USH2A ADGRV1
13 stereocilium membrane GO:0060171 9.48 USH2A ADGRV1
14 stereocilia ankle link complex GO:0002142 9.46 WHRN USH2A USH1C ADGRV1
15 photoreceptor inner segment GO:0001917 9.43 WHRN USH2A USH1G USH1C MYO7A ADGRV1
16 stereocilium GO:0032420 9.23 WHRN USH1C PCDH15 MYO7A MYO15A CLRN1

Biological processes related to Deafness, Autosomal Recessive 23 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.89 USH2A MYO7A CLRN1 CDH23 ADGRV1
2 inner ear morphogenesis GO:0042472 9.8 USH1G USH1C PTPRQ MYO7A MYO15A
3 inner ear receptor cell stereocilium organization GO:0060122 9.8 WHRN USH1G USH1C MYO7A CDH23 ADGRV1
4 photoreceptor cell maintenance GO:0045494 9.8 USH2A USH1G USH1C PCDH15 CLRN1 CDH23
5 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.76 PCDH15 CDH23 CDH17
6 inner ear development GO:0048839 9.76 PCDH15 MYO7A GJB2 ADGRV1
7 actin filament organization GO:0007015 9.75 MYO7A MYO15A CLRN1
8 cell communication GO:0007154 9.7 GJD4 GJB2 ADGRV1
9 establishment of protein localization GO:0045184 9.69 WHRN USH2A ADGRV1
10 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.67 WHRN TMC1 PTPRQ ADGRV1
11 auditory receptor cell stereocilium organization GO:0060088 9.65 WHRN MYO7A CLRN1
12 equilibrioception GO:0050957 9.63 USH1G USH1C PCDH15 MYO7A CLRN1 CDH23
13 inner ear receptor cell differentiation GO:0060113 9.61 USH2A USH1G MYO7A
14 sensory perception of light stimulus GO:0050953 9.61 WHRN USH2A USH1G USH1C PCDH15 MYO7A
15 vesicle transport along actin filament GO:0030050 9.57 MYO7A MYO15A
16 auditory receptor cell development GO:0060117 9.56 TMC1 CLRN1
17 inner ear auditory receptor cell differentiation GO:0042491 9.55 USH1C MYO7A
18 maintenance of animal organ identity GO:0048496 9.54 USH2A ADGRV1
19 sensory perception of sound GO:0007605 9.4 WHRN USH2A USH1G USH1C TMC1 PCDH15

Molecular functions related to Deafness, Autosomal Recessive 23 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.55 PCDH15 GJB2 CDH23 CDH17 ADGRV1
2 microfilament motor activity GO:0000146 9.32 MYO7A MYO15A
3 actin-dependent ATPase activity GO:0030898 9.26 MYO7A MYO15A
4 gap junction channel activity GO:0005243 8.96 GJD4 GJB2
5 spectrin binding GO:0030507 8.8 USH1G USH1C MYO7A

Sources for Deafness, Autosomal Recessive 23

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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