DFNB24
MCID: DFN252
MIFTS: 34

Deafness, Autosomal Recessive 24 (DFNB24)

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

Aliases & Classifications for Deafness, Autosomal Recessive 24

MalaCards integrated aliases for Deafness, Autosomal Recessive 24:

Name: Deafness, Autosomal Recessive 24 57 29 13 6
Dfnb24 57 12 75
Autosomal Recessive Nonsyndromic Deafness 24 12 15
Deafness, Autosomal Recessive, 24 75 73
Deafness, Autosomal Recessive, Type 24 40
Autosomal Recessive Deafness 24 12

Characteristics:

OMIM:

57
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 57 611022
Disease Ontology 12 DOID:0110482
ICD10 33 H90.3
MedGen 42 C1970239
MeSH 44 D006319
SNOMED-CT via HPO 69 258211005
UMLS 73 C1970239

Summaries for Deafness, Autosomal Recessive 24

UniProtKB/Swiss-Prot : 75 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 dfnb24, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and deafness, autosomal recessive 8. 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, and related phenotype is profound sensorineural hearing impairment.

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 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 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
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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 24 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
2 deafness, autosomal recessive 8 10.1 TMPRSS3 TMPRSS4
3 deafness, autosomal recessive 98 10.1 TMPRSS3 TMPRSS4
4 deafness, autosomal recessive 85 10.1 TMPRSS3 TMPRSS4
5 deafness, autosomal recessive 83 10.1 TMPRSS3 TMPRSS4
6 deafness, autosomal dominant 2a 10.0 TMPRSS3 TMPRSS4
7 deafness, autosomal recessive 16 10.0 TMPRSS3 TMPRSS4
8 deafness, autosomal dominant 6 10.0 TMPRSS3 TMPRSS4
9 deafness, autosomal dominant 13 10.0 TMPRSS3 TMPRSS4
10 nonsyndromic deafness 10.0 RDX TMPRSS3 TMPRSS4
11 neisseria meningitidis infection 9.9 EZR MSN
12 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.9 RDX TMPRSS3
13 meningioma, radiation-induced 9.9 EZR MSN RDX
14 neurofibromatosis, type ii 9.9 EZR MSN RDX
15 pathologic nystagmus 9.9 EZR MSN RDX
16 neurilemmoma 9.8 EZR MSN
17 deafness, autosomal recessive 25 9.3 CORIN HPN TMPRSS2 TMPRSS3 TMPRSS4 TMPRSS5

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:

57
Head And Neck Ears:
deafness, profound, sensorineural


Clinical features from OMIM:

611022

Human phenotypes related to Deafness, Autosomal Recessive 24:

32
# 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:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 24 29 RDX

Anatomical Context for Deafness, Autosomal Recessive 24

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

41
Brain

Publications for Deafness, Autosomal Recessive 24

Variations for Deafness, Autosomal Recessive 24

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

75
# Symbol AA change Variation ID SNP ID
1 RDX p.Asp578Asn VAR_036859 rs121918379

ClinVar genetic disease variations for Deafness, Autosomal Recessive 24:

6
# 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 NM_002906.3(RDX): c.1732G> A (p.Asp578Asn) single nucleotide variant Pathogenic rs121918379 GRCh38 Chromosome 11, 110231889: 110231889
3 RDX RDX, 1-BP INS, 1404G insertion Pathogenic
4 RDX NM_002906.3(RDX): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic rs121918380 GRCh37 Chromosome 11, 110134689: 110134689
5 RDX NM_002906.3(RDX): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic rs121918380 GRCh38 Chromosome 11, 110263964: 110263964
6 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 16)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.96 EZR HPN MSN RDX TMPRSS2
2 focal adhesion GO:0005925 9.72 EZR MSN RDX
3 neuronal cell body GO:0043025 9.71 HPN TMPRSS3 TMPRSS5
4 myelin sheath GO:0043209 9.63 EZR MSN RDX
5 apical plasma membrane GO:0016324 9.62 EZR HPN MSN RDX
6 apical part of cell GO:0045177 9.54 EZR MSN RDX
7 T-tubule GO:0030315 9.51 EZR RDX
8 microvillus membrane GO:0031528 9.49 EZR MSN
9 uropod GO:0001931 9.43 EZR MSN
10 filopodium GO:0030175 9.43 EZR MSN RDX
11 invadopodium GO:0071437 9.4 EZR MSN
12 microvillus GO:0005902 9.33 EZR MSN RDX
13 cell periphery GO:0071944 9.13 EZR MSN RDX
14 cell tip GO:0051286 8.62 EZR RDX
15 membrane GO:0016020 10.13 CORIN EZR HPN MSN RDX TMPRSS2
16 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 16)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.85 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 regulation of cell size GO:0008361 9.58 EZR MSN 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 protein kinase A signaling GO:0010737 9.51 EZR RDX
10 establishment of endothelial barrier GO:0061028 9.5 EZR MSN RDX
11 gland morphogenesis GO:0022612 9.49 EZR MSN
12 membrane to membrane docking GO:0022614 9.48 EZR MSN
13 positive regulation of cellular protein catabolic process GO:1903364 9.43 EZR MSN RDX
14 positive regulation of early endosome to late endosome transport GO:2000643 9.33 EZR MSN RDX
15 positive regulation of protein localization to early endosome GO:1902966 9.13 EZR MSN RDX
16 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:

# 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 9.4 EZR 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
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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