MCID: DFN093
MIFTS: 35

Deafness, Autosomal Recessive 23

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

Aliases & Classifications for Deafness, Autosomal Recessive 23

MalaCards integrated aliases for Deafness, Autosomal Recessive 23:

Name: Deafness, Autosomal Recessive 23 53 28 13 69
Dfnb23 53 12 71
Autosomal Recessive Nonsyndromic Deafness 23 12 14
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 23 71
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 23 71
Deafness, Autosomal Recessive, 23 71
Autosomal Recessive Deafness 23 12

Characteristics:

OMIM:

53
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:

OMIM 53 609533
Disease Ontology 12 DOID:0110481
ICD10 32 H90.3
MedGen 39 C1836027
MeSH 41 D006319
SNOMED-CT via HPO 65 258211005 60700002
UMLS 69 C1836027

Summaries for Deafness, Autosomal Recessive 23

UniProtKB/Swiss-Prot : 71 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 usher syndrome and nonsyndromic deafness, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 23 is PCDH15 (Protocadherin Related 15). Affiliated tissues include brain, and related phenotype is hearing/vestibular/ear.

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.

Description from OMIM: 609533

Related Diseases for Deafness, Autosomal Recessive 23

Diseases in the Familial 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 32 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 Recessive 105 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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 usher syndrome 29.2 CDH23 GJB2 MYO7A PCDH15
2 nonsyndromic deafness 28.5 CDH23 GJB2 MYO7A PCDH15 SLC26A4
3 usher syndrome, type ic 10.2 CDH23 MYO7A
4 deafness, autosomal recessive 3 10.1 GJB2 MYO7A
5 deafness, autosomal recessive 33 10.1 GJB2 PCDH15
6 deafness, autosomal recessive 2 10.1 GJB2 MYO7A
7 deafness, autosomal dominant 2a 10.1 GJB2 PCDH15
8 deafness, autosomal recessive 6 10.1 GJB2 MYO7A
9 microcystic meningioma 10.0 CDH17 GJB2
10 deafness, autosomal recessive 63 10.0 GJB2 MYO7A
11 branchiootic syndrome 1 10.0
12 autosomal dominant non-syndromic sensorineural deafness type dfna 10.0 GJB2 MYO7A
13 hodgkin's lymphoma, nodular sclerosis 10.0 GJB2 SLC26A4
14 usher syndrome, type ig 10.0 CDH23 MYO7A PCDH15
15 usher syndrome, type if 10.0 CDH23 MYO7A PCDH15
16 deafness, autosomal dominant 36 10.0 GJB2 SLC26A4
17 usher syndrome, type id 10.0 CDH23 MYO7A PCDH15
18 usher syndrome, type iid 9.9 CDH23 MYO7A PCDH15
19 usher syndrome, type iiia 9.9 CDH23 MYO7A PCDH15
20 vestibular disease 9.9 GJB2 SLC26A4
21 usher syndrome type 2 9.9 CDH23 MYO7A PCDH15
22 dfnb1 9.9 GJB2 MYO7A PCDH15
23 usher syndrome, type i 9.9 CDH23 MYO7A PCDH15
24 ear malformation 9.9 GJB2 SLC26A4
25 retinitis pigmentosa-deafness syndrome 9.9
26 autosomal dominant nonsyndromic deafness 9.8 GJB2 MYO7A
27 autosomal genetic disease 9.8 MYO7A SLC26A4
28 pendred syndrome 9.8 GJB2 SLC26A4
29 retinal disease 9.8 MYO7A PCDH15
30 deafness, autosomal recessive 85 9.8 CDH23 MYO7A SLC26A4
31 deafness, autosomal recessive 83 9.8 CDH23 MYO7A SLC26A4
32 bardet-biedl syndrome 9.7 CDH23 MYO7A PCDH15
33 appendix adenocarcinoma 9.7 CD2 CDH17
34 deafness, autosomal recessive 16 9.7 GJB2 MYO7A SLC26A4
35 deafness, autosomal recessive 30 9.7 GJB2 MYO7A SLC26A4
36 deafness, autosomal recessive 26 9.7 CDH23 GJB2 SLC26A4
37 deafness, autosomal dominant 13 9.7 GJB2 MYO7A SLC26A4
38 autosomal recessive nonsyndromic deafness 9.7 CDH23 GJB2 SLC26A4
39 usher syndrome, type iic 9.6 CDH17 CDH23 MYO7A PCDH15
40 autosomal recessive nonsyndromic deafness 3 9.4 CDH23 GJB2 MYO7A SLC26A4
41 deafness, autosomal dominant 6 9.4 CDH23 GJB2 MYO7A SLC26A4
42 inner ear disease 9.4 CDH23 GJB2 MYO7A SLC26A4
43 deafness, autosomal recessive 9.4 CDH23 GJB2 PCDH15 SLC26A4
44 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.4 CDH23 GJB2 MYO7A SLC26A4
45 sensorineural hearing loss 9.4 CDH23 GJB2 MYO7A SLC26A4
46 auditory system disease 9.1 CDH23 GJB2 MYO7A PCDH15 SLC26A4
47 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.1 CDH23 GJB2 MYO7A PCDH15 SLC26A4
48 retinitis pigmentosa 9.1 CDH23 GJB2 MYO7A PCDH15 SLC26A4
49 deafness, autosomal recessive 12 8.8 CDH17 CDH23 GJB2 MYO7A PCDH15 SLC26A4

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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
deafness, neurosensory
severe to profound deafness

Head And Neck Eyes:
normal vision


Clinical features from OMIM:

609533

Human phenotypes related to Deafness, Autosomal Recessive 23:

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

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 23:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.02 CDH23 GJB2 MYO7A PCDH15 SLC26A4

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 28 PCDH15

Anatomical Context for Deafness, Autosomal Recessive 23

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

38
Brain

Publications for Deafness, Autosomal Recessive 23

Articles related to Deafness, Autosomal Recessive 23:

# Title Authors Year
1
Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23. ( 25930172 )
2015
2
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. ( 18719945 )
2008
3
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. ( 14570705 )
2003

Variations for Deafness, Autosomal Recessive 23

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

71
# Symbol AA change Variation ID SNP ID
1 PCDH15 p.Arg134Gly VAR_024035 rs137853003
2 PCDH15 p.Gly262Asp VAR_024036 rs137853002

ClinVar genetic disease variations for Deafness, Autosomal Recessive 23:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PCDH15 NM_033056.3(PCDH15): c.1583T> A (p.Val528Asp) single nucleotide variant Pathogenic rs267606932 GRCh37 Chromosome 10, 55943211: 55943211
2 PCDH15 NM_033056.3(PCDH15): c.3316C> T (p.Arg1106Ter) single nucleotide variant Pathogenic/Likely pathogenic rs202033121 GRCh37 Chromosome 10, 55698632: 55698632
3 PCDH15 NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh37 Chromosome 10, 56077174: 56077174
4 PCDH15 NM_033056.3(PCDH15): c.785G> A (p.Gly262Asp) single nucleotide variant Pathogenic rs137853002 GRCh37 Chromosome 10, 56077122: 56077122
5 PCDH15 NM_033056.3(PCDH15): c.400C> G (p.Arg134Gly) single nucleotide variant Pathogenic/Likely pathogenic rs137853003 GRCh37 Chromosome 10, 56128954: 56128954
6 PCDH15 NM_001142769.2(PCDH15): c.4726C> T (p.Gln1576Ter) single nucleotide variant Pathogenic rs1056396947 GRCh37 Chromosome 10, 55569099: 55569099

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:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.63 CD2 CDH17 CDH23 GJB2 PCDH15 SLC26A4
2 photoreceptor outer segment GO:0001750 8.96 MYO7A PCDH15
3 stereocilium GO:0032420 8.8 CDH23 MYO7A PCDH15

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.76 CD2 CDH17 CDH23 PCDH15
2 visual perception GO:0007601 9.65 CDH23 MYO7A PCDH15
3 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.61 CDH17 CDH23 PCDH15
4 locomotory behavior GO:0007626 9.52 CDH23 PCDH15
5 photoreceptor cell maintenance GO:0045494 9.51 CDH23 PCDH15
6 inner ear development GO:0048839 9.5 GJB2 MYO7A PCDH15
7 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.49 CDH17 CDH23
8 inner ear receptor cell stereocilium organization GO:0060122 9.43 CDH23 MYO7A PCDH15
9 auditory receptor cell stereocilium organization GO:0060088 9.4 MYO7A PCDH15
10 inner ear auditory receptor cell differentiation GO:0042491 9.37 MYO7A PCDH15
11 sensory perception of light stimulus GO:0050953 9.33 CDH23 MYO7A PCDH15
12 equilibrioception GO:0050957 9.13 CDH23 MYO7A PCDH15
13 sensory perception of sound GO:0007605 9.02 CDH23 GJB2 MYO7A PCDH15 SLC26A4

Sources for Deafness, Autosomal Recessive 23

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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