MCID: DFN252
MIFTS: 36

Deafness, Autosomal Recessive 24

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

Aliases & Classifications for Deafness, Autosomal Recessive 24

MalaCards integrated aliases for Deafness, Autosomal Recessive 24:

Name: Deafness, Autosomal Recessive 24 54 29 13
Autosomal Recessive Nonsyndromic Deafness 24 12 14
Deafness, Autosomal Recessive, 24 71 69
Dfnb24 12 71
Autosomal Recessive Deafness 24 12

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

32
deafness, autosomal recessive 24:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 611022
Disease Ontology 12 DOID:0110482
ICD10 33 H90.3
MedGen 40 C1970239
MeSH 42 D006319
SNOMED-CT via HPO 65 258211005

Summaries for Deafness, Autosomal Recessive 24

UniProtKB/Swiss-Prot : 71 Deafness, autosomal recessive, 24: 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 24, also known as autosomal recessive nonsyndromic deafness 24, is related to dfnb24 nonsyndromic hearing loss and deafness and nonsyndromic hydrocephalus, ccdc88c-related, and has symptoms including profound sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 24 is RDX (Radixin), and among its related pathways/superpathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways and Regulation of actin cytoskeleton. Affiliated tissues include brain.

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 RDX gene on chromosome 11q22.

Description from OMIM: 611022

Related Diseases for Deafness, Autosomal Recessive 24

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 24 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
id Related Disease Score Top Affiliating Genes
1 dfnb24 nonsyndromic hearing loss and deafness 11.8
2 nonsyndromic hydrocephalus, ccdc88c-related 10.4 RDX TMPRSS3
3 autosomal dominant nonsyndromic deafness 20 10.3 TMPRSS3 TMPRSS4
4 cat eye syndrome 10.3 TMPRSS3 TMPRSS4
5 bifid nose with or without anorectal and renal anomalies 10.3 TMPRSS3 TMPRSS4
6 ectodermal dysplasia 6, hair/nail type 10.2 TMPRSS3 TMPRSS4
7 microcephaly and chorioretinopathy, autosomal recessive, 3 10.2 TMPRSS3 TMPRSS4
8 discrete papular lichen myxedematosus 10.2 RDX TMPRSS3
9 congenital muscular dystrophy due to lmna mutation 10.1 TMPRSS3 TMPRSS4
10 deafness, autosomal dominant 2a 10.1 TMPRSS3 TMPRSS4
11 deafness, autosomal recessive 53 10.0 TMPRSS3 TMPRSS4
12 autosomal recessive nonsyndromic deafness 10.0 RDX TMPRSS3 TMPRSS4
13 neonatal meningitis 9.7 EZR MSN
14 epilepsy, familial focal, with variable foci 1 9.5 EZR MSN RDX
15 autoimmune lymphoproliferative syndrome 9.5 EZR MSN RDX
16 hypoglossal nerve neoplasm 9.4 EZR MSN
17 medullomyoblastoma 9.4 HPN TMPRSS2
18 birk-landau-perez syndrome 8.4 CORIN HPN TMPRSS2 TMPRSS3 TMPRSS4 TMPRSS5
19 atrial fibrillation, familial, 14 6.7 CORIN EZR HPN MSN RDX TMPRSS2

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 24:



Diseases related to Deafness, Autosomal Recessive 24

Symptoms & Phenotypes for Deafness, Autosomal Recessive 24

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
deafness, profound, sensorineural


Clinical features from OMIM:

611022

Human phenotypes related to Deafness, Autosomal Recessive 24:

32
id Description HPO Frequency HPO Source Accession
1 profound sensorineural hearing impairment 32 HP:0011476

Drugs & Therapeutics for Deafness, Autosomal Recessive 24

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 24

Genetic Tests for Deafness, Autosomal Recessive 24

Genetic tests related to Deafness, Autosomal Recessive 24:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 24 29

Anatomical Context for Deafness, Autosomal Recessive 24

MalaCards organs/tissues related to Deafness, Autosomal Recessive 24:

39
Brain

Publications for Deafness, Autosomal Recessive 24

Variations for Deafness, Autosomal Recessive 24

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 24:

71
id Symbol AA change Variation ID SNP ID
1 RDX p.Asp578Asn VAR_036859 rs121918379

ClinVar genetic disease variations for Deafness, Autosomal Recessive 24:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RDX NM_002906.3(RDX): c.1732G> A (p.Asp578Asn) single nucleotide variant Pathogenic rs121918379 GRCh37 Chromosome 11, 110102614: 110102614
2 RDX RDX, 1-BP INS, 1404G insertion Pathogenic
3 RDX NM_002906.3(RDX): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic rs121918380 GRCh37 Chromosome 11, 110134689: 110134689
4 RDX RDX, IVS7DS, G-A, +1 single nucleotide variant Pathogenic

Expression for Deafness, Autosomal Recessive 24

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 24.

Pathways for Deafness, Autosomal Recessive 24

GO Terms for Deafness, Autosomal Recessive 24

Cellular components related to Deafness, Autosomal Recessive 24 according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.71 EZR MSN RDX
2 neuronal cell body GO:0043025 9.69 HPN TMPRSS3 TMPRSS5
3 apical plasma membrane GO:0016324 9.62 EZR HPN MSN RDX
4 myelin sheath GO:0043209 9.61 EZR MSN RDX
5 apical part of cell GO:0045177 9.54 EZR MSN RDX
6 T-tubule GO:0030315 9.49 EZR RDX
7 microvillus membrane GO:0031528 9.46 EZR MSN
8 filopodium GO:0030175 9.43 EZR MSN RDX
9 uropod GO:0001931 9.4 EZR MSN
10 microvillus GO:0005902 9.33 EZR MSN RDX
11 cell periphery GO:0071944 9.13 EZR MSN RDX
12 cell tip GO:0051286 8.62 EZR RDX
13 membrane GO:0016020 10.13 CORIN EZR HPN MSN RDX TMPRSS2
14 plasma membrane GO:0005886 10.07 CORIN EZR HPN MSN RDX TMPRSS2

Biological processes related to Deafness, Autosomal Recessive 24 according to GeneCards Suite gene sharing:

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.88 CORIN HPN TMPRSS2 TMPRSS3 TMPRSS4 TMPRSS5
2 positive regulation of gene expression GO:0010628 9.83 EZR HPN MSN RDX
3 receptor-mediated endocytosis GO:0006898 9.76 TMPRSS2 TMPRSS3 TMPRSS4 TMPRSS5
4 regulation of cell shape GO:0008360 9.73 EZR HPN MSN RDX
5 establishment of protein localization to plasma membrane GO:0090002 9.57 EZR RDX
6 leukocyte cell-cell adhesion GO:0007159 9.56 EZR MSN
7 microvillus assembly GO:0030033 9.55 EZR RDX
8 establishment of epithelial cell apical/basal polarity GO:0045198 9.54 EZR MSN
9 regulation of cell size GO:0008361 9.54 EZR MSN RDX
10 protein kinase A signaling GO:0010737 9.51 EZR RDX
11 establishment of endothelial barrier GO:0061028 9.5 EZR MSN RDX
12 gland morphogenesis GO:0022612 9.49 EZR MSN
13 membrane to membrane docking GO:0022614 9.48 EZR MSN
14 positive regulation of cellular protein catabolic process GO:1903364 9.43 EZR MSN RDX
15 positive regulation of early endosome to late endosome transport GO:2000643 9.33 EZR MSN RDX
16 positive regulation of protein localization to early endosome GO:1902966 9.13 EZR MSN RDX
17 regulation of organelle assembly GO:1902115 8.8 EZR MSN RDX

Molecular functions related to Deafness, Autosomal Recessive 24 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.85 CORIN HPN TMPRSS2 TMPRSS3 TMPRSS4 TMPRSS5
2 peptidase activity GO:0008233 9.73 CORIN HPN TMPRSS2 TMPRSS3 TMPRSS4 TMPRSS5
3 actin binding GO:0003779 9.61 EZR MSN RDX
4 cytoskeletal protein binding GO:0008092 9.5 EZR MSN RDX
5 ATPase binding GO:0051117 9.48 EZR RDX
6 cell adhesion molecule binding GO:0050839 9.46 EZR MSN
7 scavenger receptor activity GO:0005044 9.46 TMPRSS2 TMPRSS3 TMPRSS4 TMPRSS5
8 serine-type endopeptidase activity GO:0004252 9.43 CORIN HPN TMPRSS2 TMPRSS3 TMPRSS4 TMPRSS5
9 protein kinase A binding GO:0051018 9.1 RDX
10 serine-type peptidase activity GO:0008236 9.1 CORIN HPN TMPRSS2 TMPRSS3 TMPRSS4 TMPRSS5

Sources for Deafness, Autosomal Recessive 24

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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