MCID: DFN093
MIFTS: 34

Deafness, Autosomal Recessive 23

Categories: Genetic diseases, Ear diseases, Neuronal diseases, Fetal diseases, Blood diseases, Rare diseases, Cardiovascular 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 73
Dfnb23 57 12 75
Autosomal Recessive Nonsyndromic Deafness 23 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 23 75
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 23 75
Deafness, Autosomal Recessive, Type 23 40
Deafness, Autosomal Recessive, 23 75
Autosomal Recessive Deafness 23 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
deafness, autosomal recessive 23:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 609533
Disease Ontology 12 DOID:0110481
ICD10 33 H90.3
MedGen 42 C1836027
MeSH 44 D006319
SNOMED-CT via HPO 69 258211005 60700002
UMLS 73 C1836027

Summaries for Deafness, Autosomal Recessive 23

UniProtKB/Swiss-Prot : 75 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 retinitis pigmentosa-deafness syndrome and usher syndrome. An important gene associated with Deafness, Autosomal Recessive 23 is PCDH15 (Protocadherin Related 15). Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and 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 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 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 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

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

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa-deafness syndrome 30.0 CDH23 MYO7A PCDH15
2 usher syndrome 29.2 CDH23 GJB2 MYO7A PCDH15
3 nonsyndromic deafness 26.9 CDH23 GJB2 GJB6 MYO7A PCDH15 SLC26A4
4 deafness, autosomal recessive 3 10.4 GJB2 MYO7A
5 deafness, autosomal recessive 33 10.3 GJB2 PCDH15
6 usher syndrome, type ic 10.3 CDH23 MYO7A
7 deafness, autosomal recessive 2 10.3 GJB2 MYO7A
8 deafness, autosomal recessive 6 10.3 GJB2 MYO7A
9 deafness, autosomal dominant 36 10.2 GJB2 SLC26A4
10 microcystic meningioma 10.1 CDH17 GJB2
11 usher syndrome, type ig 10.1 CDH23 MYO7A PCDH15
12 usher syndrome, type if 10.1 CDH23 MYO7A PCDH15
13 usher syndrome, type id 10.1 CDH23 MYO7A PCDH15
14 usher syndrome, type iid 10.1 CDH23 MYO7A PCDH15
15 usher syndrome, type iiia 10.1 CDH23 MYO7A PCDH15
16 ear malformation 10.1 GJB2 SLC26A4
17 usher syndrome type 2 10.1 CDH23 MYO7A PCDH15
18 usher syndrome, type i 10.1 CDH23 MYO7A PCDH15
19 pendred syndrome 9.9 GJB2 SLC26A4
20 deafness, autosomal recessive 85 9.9 CDH23 MYO7A SLC26A4
21 deafness, autosomal recessive 83 9.9 CDH23 MYO7A SLC26A4
22 deafness, autosomal dominant 24 9.9 GJB2 GJB6
23 kid syndrome 9.9 GJB2 GJB6
24 pseudoainhum 9.9 GJB2 GJB6
25 congenital cytomegalovirus 9.8 GJB2 GJB6
26 knuckle pads, leukonychia, and sensorineural deafness 9.8 GJB2 GJB6
27 deafness, x-linked 2 9.8 GJB2 GJB6
28 deafness, autosomal recessive 30 9.8 GJB2 MYO7A SLC26A4
29 vohwinkel syndrome 9.8 GJB2 GJB6
30 deafness, autosomal recessive 26 9.8 CDH23 GJB2 SLC26A4
31 deafness, autosomal recessive 1a 9.8 GJB2 GJB6
32 deafness, autosomal dominant 13 9.8 GJB2 MYO7A SLC26A4
33 knuckle pads 9.8 GJB2 GJB6
34 bardet-biedl syndrome 9.8 CDH23 MYO7A PCDH15
35 autosomal recessive nonsyndromic deafness 9.8 CDH23 GJB2 SLC26A4
36 autosomal genetic disease 9.8 MYO7A SLC26A4
37 erythrokeratodermia variabilis et progressiva 1 9.7 GJB2 GJB6
38 clouston syndrome 9.7 GJB2 GJB6
39 keratitis, hereditary 9.6 GJB2 GJB6
40 autosomal dominant nonsyndromic deafness 9.6 GJB2 MYO7A
41 deafness, autosomal recessive 12 9.6 CDH23 GJB2 MYO7A PCDH15
42 usher syndrome, type iic 9.5 CDH17 CDH23 MYO7A PCDH15
43 corneal disease 9.5 GJB2 GJB6
44 deafness, autosomal dominant 2a 9.5 GJB2 GJB6 PCDH15
45 autosomal dominant non-syndromic sensorineural deafness type dfna 9.4 GJB2 GJB6 MYO7A
46 autosomal recessive nonsyndromic deafness 3 9.4 CDH23 GJB2 MYO7A SLC26A4
47 deafness, autosomal dominant 6 9.4 CDH23 GJB2 MYO7A SLC26A4
48 hodgkin's lymphoma, nodular sclerosis 9.3 GJB2 GJB6 SLC26A4
49 vestibular disease 9.3 GJB2 GJB6 SLC26A4
50 dfnb1 9.1 GJB2 GJB6 MYO7A PCDH15

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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 23:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.43 SLC26A4 CDH23 GJB2 GJB6 MYO7A PCDH15
2 nervous system MP:0003631 9.1 CDH23 GJB2 GJB6 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 29 PCDH15

Anatomical Context for Deafness, Autosomal Recessive 23

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

41
Brain

Publications for Deafness, Autosomal Recessive 23

Variations for Deafness, Autosomal Recessive 23

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

75
# 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
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 PCDH15 NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh37 Chromosome 10, 56077174: 56077174
2 PCDH15 NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh38 Chromosome 10, 54317414: 54317414
3 PCDH15 NM_033056.3(PCDH15): c.785G> A (p.Gly262Asp) single nucleotide variant Pathogenic rs137853002 GRCh37 Chromosome 10, 56077122: 56077122
4 PCDH15 NM_033056.3(PCDH15): c.785G> A (p.Gly262Asp) single nucleotide variant Pathogenic rs137853002 GRCh38 Chromosome 10, 54317362: 54317362
5 PCDH15 NM_033056.3(PCDH15): c.400C> G (p.Arg134Gly) single nucleotide variant Likely pathogenic rs137853003 GRCh37 Chromosome 10, 56128954: 56128954
6 PCDH15 NM_033056.3(PCDH15): c.400C> G (p.Arg134Gly) single nucleotide variant Likely pathogenic rs137853003 GRCh38 Chromosome 10, 54369194: 54369194
7 PCDH15 NM_033056.3(PCDH15): c.1583T> A (p.Val528Asp) single nucleotide variant Pathogenic rs267606932 GRCh37 Chromosome 10, 55943211: 55943211
8 PCDH15 NM_033056.3(PCDH15): c.1583T> A (p.Val528Asp) single nucleotide variant Pathogenic rs267606932 GRCh38 Chromosome 10, 54183451: 54183451
9 PCDH15 NM_033056.3(PCDH15): c.3316C> T (p.Arg1106Ter) single nucleotide variant Pathogenic/Likely pathogenic rs202033121 GRCh37 Chromosome 10, 55698632: 55698632
10 PCDH15 NM_033056.3(PCDH15): c.3316C> T (p.Arg1106Ter) single nucleotide variant Pathogenic/Likely pathogenic rs202033121 GRCh38 Chromosome 10, 53938872: 53938872
11 PCDH15 NM_033056.3(PCDH15): c.2102C> T (p.Ala701Val) single nucleotide variant Uncertain significance rs199537178 GRCh37 Chromosome 10, 55826635: 55826635
12 PCDH15 NM_033056.3(PCDH15): c.2102C> T (p.Ala701Val) single nucleotide variant Uncertain significance rs199537178 GRCh38 Chromosome 10, 54066875: 54066875
13 PCDH15 NM_001142769.2(PCDH15): c.4726C> T (p.Gln1576Ter) single nucleotide variant Pathogenic rs1056396947 GRCh37 Chromosome 10, 55569099: 55569099
14 PCDH15 NM_001142769.2(PCDH15): c.4726C> T (p.Gln1576Ter) single nucleotide variant Pathogenic rs1056396947 GRCh38 Chromosome 10, 53809339: 53809339
15 PCDH15 NM_033056.3(PCDH15): c.3857T> A (p.Val1286Glu) single nucleotide variant Uncertain significance rs375292203 GRCh37 Chromosome 10, 55600206: 55600206
16 PCDH15 NM_033056.3(PCDH15): c.3857T> A (p.Val1286Glu) single nucleotide variant Uncertain significance rs375292203 GRCh38 Chromosome 10, 53840446: 53840446

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 integral component of membrane GO:0016021 9.95 CD2 CDH17 CDH23 GJB2 GJB6 PCDH15
2 plasma membrane GO:0005886 9.8 CD2 CDH17 CDH23 GJB2 GJB6 PCDH15
3 apical plasma membrane GO:0016324 9.5 GJB6 MYO7A SLC26A4
4 photoreceptor outer segment GO:0001750 9.37 MYO7A PCDH15
5 gap junction GO:0005921 9.16 GJB2 GJB6
6 connexin complex GO:0005922 8.96 GJB2 GJB6
7 stereocilium GO:0032420 8.8 CDH23 MYO7A PCDH15

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

(show all 14)
# 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 9.54 CDH23 PCDH15
5 cell communication GO:0007154 9.52 GJB2 GJB6
6 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.51 CDH17 CDH23
7 inner ear receptor cell stereocilium organization GO:0060122 9.5 CDH23 MYO7A PCDH15
8 photoreceptor cell maintenance GO:0045494 9.49 CDH23 PCDH15
9 inner ear development GO:0048839 9.46 GJB2 GJB6 MYO7A PCDH15
10 sensory perception of light stimulus GO:0050953 9.43 CDH23 MYO7A PCDH15
11 auditory receptor cell stereocilium organization GO:0060088 9.4 MYO7A PCDH15
12 inner ear auditory receptor cell differentiation GO:0042491 9.37 MYO7A PCDH15
13 equilibrioception GO:0050957 9.13 CDH23 MYO7A PCDH15
14 sensory perception of sound GO:0007605 9.1 CDH23 GJB2 GJB6 MYO7A PCDH15 SLC26A4

Sources for Deafness, Autosomal Recessive 23

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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