MCID: DFN093
MIFTS: 34

Deafness, Autosomal Recessive 23

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

Aliases & Classifications for Deafness, Autosomal Recessive 23

MalaCards integrated aliases for Deafness, Autosomal Recessive 23:

Name: Deafness, Autosomal Recessive 23 54 29 13 69
Autosomal Recessive Nonsyndromic Deafness 23 12 14
Dfnb23 12 71
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:

54
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



External Ids:

OMIM 54 609533
Disease Ontology 12 DOID:0110481
ICD10 33 H90.3
MedGen 40 C1836027
MeSH 42 D006319
SNOMED-CT via HPO 65 258211005 60700002

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 autosomal recessive nonsyndromic deafness 23, is related to dfnb23 nonsyndromic hearing loss and deafness and epilepsy, idiopathic generalized 5, 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 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 23 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
id Related Disease Score Top Affiliating Genes
1 dfnb23 nonsyndromic hearing loss and deafness 11.8
2 epilepsy, idiopathic generalized 5 10.3 GJB2 PCDH15
3 deafness, autosomal recessive 18a 10.2 CDH23 MYO7A
4 deafness, autosomal dominant 11 10.2 GJB2 MYO7A
5 robinow syndrome, autosomal dominant 1 10.2 GJB2 MYO7A
6 deafness, autosomal dominant 2a 10.2 GJB2 PCDH15
7 fibrosis of extraocular muscles, congenital, 2 10.1 GJB2 MYO7A
8 ulnar neuropathy 10.1 CDH17 GJB2
9 nodular lichen myxedematosus 10.1 GJB2 MYO7A
10 fascioliasis 10.0 GJB2 SLC26A4
11 cataract 26, multiple types 10.0 GJB2 SLC26A4
12 amelogenesis imperfecta, type ig 10.0 CDH23 MYO7A PCDH15
13 deafness, autosomal recessive 12 10.0 CDH23 MYO7A PCDH15
14 viral laryngitis 10.0 GJB2 SLC26A4
15 asthma-related traits 8 10.0 CDH23 MYO7A PCDH15
16 retinitis pigmentosa 61 10.0 CDH23 MYO7A PCDH15
17 diabetes persistent mullerian ducts 9.9 GJB2 MYO7A PCDH15
18 usher syndrome type 1h 9.9 CDH23 MYO7A PCDH15
19 usher syndrome 9.8
20 nonsyndromic deafness 9.8
21 hereditary breast ovarian cancer 9.8 MYO7A PCDH15
22 bifid nose with or without anorectal and renal anomalies 9.7 CDH23 MYO7A SLC26A4
23 ectodermal dysplasia 6, hair/nail type 9.7 CDH23 MYO7A SLC26A4
24 trichomoniasis 9.7 CDH23 MYO7A PCDH15
25 lymphoplasmacytic lymphoma 9.7 MYO7A SLC26A4
26 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 GJB2 SLC26A4
27 breast mucinous carcinoma 9.7 CD2 CDH17
28 severe combined immunodeficiency, athabascan type 9.7 GJB2 MYO7A SLC26A4
29 microcephaly and chorioretinopathy, autosomal recessive, 3 9.7 GJB2 MYO7A SLC26A4
30 leber congenital amaurosis 14 9.7 CDH23 GJB2 SLC26A4
31 deafness, autosomal recessive 53 9.6 GJB2 MYO7A SLC26A4
32 trichohepatoenteric syndrome 1 9.5 CDH17 CDH23 MYO7A PCDH15
33 deafness, autosomal recessive 2 9.5 CDH17 CDH23 MYO7A PCDH15
34 brugada syndrome 9.5 CDH23 GJB2 MYO7A PCDH15
35 congenital muscular dystrophy due to lmna mutation 9.3 CDH23 GJB2 MYO7A SLC26A4
36 autosomal recessive nonsyndromic deafness 8 9.3 CDH23 GJB2 MYO7A SLC26A4
37 mixed lacrimal gland cancer 9.3 CDH23 GJB2 MYO7A SLC26A4
38 dihydrolipoamide dehydrogenase deficiency 9.2 CDH23 GJB2 MYO7A SLC26A4
39 endometritis 9.2 CDH23 GJB2 MYO7A SLC26A4
40 scar contracture 9.2 CDH23 GJB2 MYO7A PCDH15
41 narcissistic personality disorder 8.9 CDH23 GJB2 MYO7A PCDH15 SLC26A4
42 discrete papular lichen myxedematosus 8.9 CDH23 GJB2 MYO7A PCDH15 SLC26A4
43 autosomal recessive nonsyndromic deafness 8.9 CDH23 GJB2 MYO7A PCDH15 SLC26A4
44 pituitary adenoma 8.4 CDH17 CDH23 GJB2 MYO7A PCDH15 SLC26A4
45 hyperphenylalaninemia, mild, non-bh4-deficient 7.5 CD2 CDH17 CDH23 GJB2 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:

54

Head And Neck- Eyes:
normal vision

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


Clinical features from OMIM:

609533

Human phenotypes related to Deafness, Autosomal Recessive 23:

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

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 23:

44
id 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

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 23

Genetic Tests for Deafness, Autosomal Recessive 23

Genetic tests related to Deafness, Autosomal Recessive 23:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 23 29

Anatomical Context for Deafness, Autosomal Recessive 23

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

39
Brain

Publications for Deafness, Autosomal Recessive 23

Variations for Deafness, Autosomal Recessive 23

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

71
id 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
id 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.785G> A (p.Gly262Asp) single nucleotide variant Pathogenic rs137853002 GRCh37 Chromosome 10, 56077122: 56077122
3 PCDH15 NM_033056.3(PCDH15): c.400C> G (p.Arg134Gly) single nucleotide variant Pathogenic/Likely pathogenic rs137853003 GRCh37 Chromosome 10, 56128954: 56128954
4 PCDH15 NM_033056.3(PCDH15): c.1583T> A (p.Val528Asp) single nucleotide variant Pathogenic rs267606932 GRCh37 Chromosome 10, 55943211: 55943211
5 PCDH15 NM_001142769.1(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:

id 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)
id 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 stereocilium organization GO:0060122 9.43 CDH23 MYO7A PCDH15
9 auditory receptor cell stereocilium organization GO:0060088 9.4 MYO7A PCDH15
10 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

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

id Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 8.62 MYO7A PCDH15

Sources for Deafness, Autosomal Recessive 23

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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