DFNB24
MCID: DFN252
MIFTS: 36

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 74
Autosomal Recessive Nonsyndromic Deafness 24 12 15
Deafness, Autosomal Recessive, 24 74 72
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:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110482
MeSH 44 D006319
ICD10 33 H90.3
MedGen 42 C1970239
UMLS 72 C1970239

Summaries for Deafness, Autosomal Recessive 24

UniProtKB/Swiss-Prot : 74 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 nonsyndromic deafness and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Deafness, Autosomal Recessive 24 is RDX (Radixin), and among its related pathways/superpathways are Cytoskeletal Signaling and MicroRNAs in cancer. 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.

More information from OMIM: 611022 PS220290

Related Diseases for Deafness, Autosomal Recessive 24

Diseases in the Rare 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
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
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 32
Autosomal Recessive Nonsyndromic Deafness 36 Familial Deafness

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 30.4 TMPRSS4 TMPRSS3 RDX
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
3 deafness, autosomal recessive 98 10.3 TMPRSS4 TMPRSS3
4 deafness, autosomal recessive 8 10.3 TMPRSS4 TMPRSS3
5 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.3
6 deafness, autosomal recessive 83 10.3 TMPRSS4 TMPRSS3
7 deafness, autosomal recessive 85 10.3 TMPRSS4 TMPRSS3
8 deafness, autosomal recessive 16 10.2 TMPRSS4 TMPRSS3
9 deafness, autosomal recessive 21 10.1
10 deafness, autosomal recessive 42 10.1
11 deafness, autosomal recessive 29 10.1
12 bilirubin metabolic disorder 10.1
13 deafness, autosomal dominant 2a 10.1 TMPRSS4 TMPRSS3
14 deafness, autosomal dominant 50 10.1 MIR96 MIR183
15 deafness, autosomal dominant 6 10.1 TMPRSS4 TMPRSS3
16 deafness, autosomal dominant 13 10.0 TMPRSS4 TMPRSS3
17 neisseria meningitidis infection 10.0 MSN EZR
18 meningioma, radiation-induced 9.8 RDX MSN EZR
19 neurofibromatosis, type ii 9.8 RDX MSN EZR
20 pathologic nystagmus 9.8 RDX MSN EZR
21 neurilemmoma 9.5 MSN EZR
22 deafness, autosomal recessive 25 8.4 TMPRSS5 TMPRSS4 TMPRSS3 TMPRSS2 HPN CORIN

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

Human phenotypes related to Deafness, Autosomal Recessive 24:

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
deafness, profound, sensorineural

Clinical features from OMIM:

611022

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

Articles related to Deafness, Autosomal Recessive 24:

# Title Authors PMID Year
1
A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family. 38 8 71
19215054 2009
2
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. 38 8 71
17226784 2007
3
Hereditary Hearing Loss and Deafness Overview 71
20301607 1999
4
Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran. 38
28900455 2017
5
Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene. 38
22567349 2011
6
miRNA mutations are not a common cause of deafness. 38
20186779 2010
7
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss. 38
17918732 2008

Variations for Deafness, Autosomal Recessive 24

ClinVar genetic disease variations for Deafness, Autosomal Recessive 24:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RDX NM_002906.3(RDX): c.1732G> A (p.Asp578Asn) single nucleotide variant Pathogenic rs121918379 11:110102614-110102614 11:110231889-110231889
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 11:110134689-110134689 11:110263964-110263964
4 RDX RDX, IVS7DS, G-A, +1 single nucleotide variant Pathogenic
5 RDX NM_002906.3(RDX): c.551+2T> C single nucleotide variant Pathogenic 11:110128829-110128829 11:110258104-110258104
6 RDX NM_002906.3(RDX): c.910C> T (p.Gln304Ter) single nucleotide variant Uncertain significance 11:110124720-110124720 11:110253995-110253995
7 RDX NM_002906.3(RDX): c.573C> A (p.Tyr191Ter) single nucleotide variant Uncertain significance 11:110128617-110128617 11:110257892-110257892

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

74
# Symbol AA change Variation ID SNP ID
1 RDX p.Asp578Asn VAR_036859 rs121918379

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:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.62 RDX MSN HPN EZR
2 apical part of cell GO:0045177 9.54 RDX MSN EZR
3 T-tubule GO:0030315 9.48 RDX EZR
4 microvillus membrane GO:0031528 9.46 MSN EZR
5 uropod GO:0001931 9.43 MSN EZR
6 filopodium GO:0030175 9.43 RDX MSN EZR
7 invadopodium GO:0071437 9.4 MSN EZR
8 microvillus GO:0005902 9.33 RDX MSN EZR
9 cell periphery GO:0071944 9.13 RDX MSN EZR
10 cell tip GO:0051286 8.62 RDX EZR

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.88 TMPRSS5 TMPRSS4 TMPRSS3 TMPRSS2 HPN CORIN
2 positive regulation of gene expression GO:0010628 9.85 RDX MSN HPN EZR
3 regulation of cell shape GO:0008360 9.73 RDX MSN HPN EZR
4 leukocyte cell-cell adhesion GO:0007159 9.57 MSN EZR
5 microvillus assembly GO:0030033 9.56 RDX EZR
6 establishment of epithelial cell apical/basal polarity GO:0045198 9.54 MSN EZR
7 regulation of cell size GO:0008361 9.54 RDX MSN EZR
8 positive regulation of fatty acid biosynthetic process GO:0045723 9.52 MIR96 MIR183
9 protein kinase A signaling GO:0010737 9.51 RDX EZR
10 establishment of endothelial barrier GO:0061028 9.5 RDX MSN EZR
11 positive regulation of cholesterol biosynthetic process GO:0045542 9.49 MIR96 MIR183
12 gland morphogenesis GO:0022612 9.48 MSN EZR
13 membrane to membrane docking GO:0022614 9.46 MSN EZR
14 positive regulation of cellular protein catabolic process GO:1903364 9.43 RDX MSN EZR
15 positive regulation of early endosome to late endosome transport GO:2000643 9.33 RDX MSN EZR
16 positive regulation of protein localization to early endosome GO:1902966 9.13 RDX MSN EZR
17 regulation of organelle assembly GO:1902115 8.8 RDX MSN EZR

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 TMPRSS5 TMPRSS4 TMPRSS3 TMPRSS2 HPN CORIN
2 peptidase activity GO:0008233 9.73 TMPRSS5 TMPRSS4 TMPRSS3 TMPRSS2 HPN CORIN
3 actin binding GO:0003779 9.63 RDX MSN EZR
4 cytoskeletal protein binding GO:0008092 9.5 RDX MSN EZR
5 scavenger receptor activity GO:0005044 9.46 TMPRSS5 TMPRSS4 TMPRSS3 TMPRSS2
6 cell adhesion molecule binding GO:0050839 9.43 MSN EZR
7 serine-type endopeptidase activity GO:0004252 9.43 TMPRSS5 TMPRSS4 TMPRSS3 TMPRSS2 HPN CORIN
8 protein kinase A binding GO:0051018 9.4 RDX EZR
9 serine-type peptidase activity GO:0008236 9.1 TMPRSS5 TMPRSS4 TMPRSS3 TMPRSS2 HPN CORIN

Sources for Deafness, Autosomal Recessive 24

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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