DFNB24
MCID: DFN252
MIFTS: 33

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 56 29 13 6
Dfnb24 56 12 73
Autosomal Recessive Nonsyndromic Deafness 24 12 15
Deafness, Autosomal Recessive, 24 73 71
Deafness, Autosomal Recessive, Type 24 39
Autosomal Recessive Deafness 24 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

31
deafness, autosomal recessive 24:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110482
OMIM 56 611022
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1970239
SNOMED-CT via HPO 68 258211005
UMLS 71 C1970239

Summaries for Deafness, Autosomal Recessive 24

UniProtKB/Swiss-Prot : 73 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 deafness, autosomal recessive 21 and deafness, autosomal recessive 42. An important gene associated with Deafness, Autosomal Recessive 24 is RDX (Radixin), and among its related pathways/superpathways is RhoA signaling pathway. Affiliated tissues include brain, and related phenotypes are profound 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 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 Otof-Related Deafness
Familial Deafness

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 21 30.1 TECTA PJVK
2 deafness, autosomal recessive 42 29.8 TECTA PJVK ILDR1
3 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.1 TRIOBP TPRN TECTA RDX PTPRQ PJVK
4 nonsyndromic deafness 28.1 TRIOBP TPRN TECTA PTPRQ PJVK MIR96
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
6 autosomal recessive nonsyndromic deafness 36 10.3 TRIOBP TPRN
7 deafness, autosomal recessive 28 10.2 TRIOBP TPRN
8 deafness, autosomal recessive 37 10.2 TRIOBP TPRN
9 deafness, autosomal dominant 20 10.2 TRIOBP TPRN
10 deafness, autosomal recessive 29 10.2
11 bilirubin metabolic disorder 10.2
12 autosomal recessive nonsyndromic deafness 3 10.1 TPRN PJVK
13 deafness, autosomal recessive 93 10.1 TRIOBP PJVK
14 deafness, autosomal recessive 67 10.1 PJVK ILDR1
15 deafness, autosomal recessive 35 10.0 TRIOBP PJVK
16 deafness, autosomal recessive 2 10.0 TECTA PJVK
17 deafness, autosomal recessive 9 10.0 TECTA PJVK
18 deafness, autosomal recessive 49 10.0 PJVK ILDR1
19 deafness, autosomal recessive 15 9.9 PJVK ILDR1
20 deafness, autosomal recessive 12 9.9 VEZT TRIOBP
21 acoustic neuroma 9.9 RDX MIR96 EZR
22 deafness, autosomal dominant 3b 9.9 TPRN PTPRQ
23 neurilemmoma 9.9 RDX MIR96 EZR
24 deafness, autosomal recessive 91 9.9 TPRN PTPRQ
25 meningioma, radiation-induced 9.9 RDX EZR
26 deafness, autosomal recessive 79 9.9 TPRN PTPRQ
27 deafness, autosomal recessive 39 9.8 TRIOBP PTPRQ
28 deafness, autosomal recessive 66 9.8 TPRN PTPRQ
29 rare genetic deafness 9.8 TECTA RDX PJVK
30 deafness, autosomal dominant 50 9.8 PTPRQ MIR96
31 deafness, autosomal recessive 85 9.8 PTPRQ PJVK
32 kindler syndrome 9.7 RDX EZR
33 deafness, autosomal recessive 83 9.7 PTPRQ PJVK
34 deafness, autosomal dominant 1 9.7 TPRN PTPRQ
35 deafness, autosomal recessive 61 9.7 TRIOBP TPRN PTPRQ
36 deafness, autosomal dominant 22 9.7 TRIOBP TPRN PTPRQ
37 neurofibromatosis, type iv, of riccardi 9.6 RDX EZR
38 autosomal dominant non-syndromic sensorineural deafness type dfna 9.5 TECTA PTPRQ MIR96
39 autosomal recessive nonsyndromic deafness 9.4 TRIOBP TPRN PJVK MIR96 ILDR1
40 deafness, autosomal recessive 25 9.3 TRIOBP TMPRSS5 PTPRQ PJVK
41 usher syndrome, type i 9.2 VEZT TRIOBP PTPRQ PJVK
42 usher syndrome, type id 9.2 VEZT TRIOBP PTPRQ PJVK
43 deafness, autosomal recessive 22 9.1 TRIOBP TECTA PTPRQ PJVK
44 branchiootic syndrome 1 9.1 TECTA PTPRQ PJVK ILDR1
45 deafness, autosomal recessive 9.1 TPRN RDX PTPRQ PJVK ILDR1
46 sensorineural hearing loss 9.0 TRIOBP TPRN TECTA PTPRQ ILDR1
47 autosomal dominant nonsyndromic deafness 8.7 TRIOBP TPRN TECTA PTPRQ PJVK MIR96
48 auditory system disease 8.4 TRIOBP TPRN TECTA PTPRQ PJVK MIR96

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:

31
# Description HPO Frequency HPO Source Accession
1 profound sensorineural hearing impairment 31 HP:0011476

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
deafness, profound, sensorineural

Clinical features from OMIM:

611022

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 24:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.17 ILDR1 PJVK PTPRQ RDX TECTA TPRN

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:

40
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. 61 56 6
19215054 2009
2
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. 61 56 6
17226784 2007
3
Hereditary Hearing Loss and Deafness Overview 6
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. 61
28900455 2017
5
Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene. 61
22567349 2011
6
miRNA mutations are not a common cause of deafness. 61
20186779 2010
7
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss. 61
17918732 2008

Variations for Deafness, Autosomal Recessive 24

ClinVar genetic disease variations for Deafness, Autosomal Recessive 24:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RDX NM_002906.3(RDX):c.698+1G>ASNV Pathogenic 13187 11:110128491-110128491 11:110257766-110257766
2 RDX NM_001260494.1(RDX):c.60-5775C>TSNV Pathogenic 13186 rs121918380 11:110134689-110134689 11:110263964-110263964
3 RDX NM_001260496.1(RDX):c.405-1415dupduplication Pathogenic 13185 11:110104143-110104144 11:110233418-110233419
4 RDX NM_002906.3(RDX):c.1732G>A (p.Asp578Asn)SNV Pathogenic 13184 rs121918379 11:110102614-110102614 11:110231889-110231889
5 RDX NM_002906.3(RDX):c.551+2T>CSNV Pathogenic 638047 11:110128829-110128829 11:110258104-110258104
6 RDX NM_002906.3(RDX):c.910C>T (p.Gln304Ter)SNV Uncertain significance 631648 rs893826250 11:110124720-110124720 11:110253995-110253995
7 RDX NM_002906.3(RDX):c.573C>A (p.Tyr191Ter)SNV Uncertain significance 631649 rs139960434 11:110128617-110128617 11:110257892-110257892

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

73
# 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

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

# Super pathways Score Top Affiliating Genes
1 10.24 RDX EZR

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 stereocilium GO:0032420 9.16 TPRN RDX
2 T-tubule GO:0030315 8.96 RDX EZR
3 cell tip GO:0051286 8.62 RDX EZR

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

# Name GO ID Score Top Affiliating Genes
1 regulation of cell size GO:0008361 9.48 RDX EZR
2 establishment of endothelial barrier GO:0061028 9.46 RDX EZR
3 microvillus assembly GO:0030033 9.43 RDX EZR
4 barbed-end actin filament capping GO:0051016 9.4 TRIOBP RDX
5 positive regulation of cellular protein catabolic process GO:1903364 9.37 RDX EZR
6 protein kinase A signaling GO:0010737 9.32 RDX EZR
7 positive regulation of early endosome to late endosome transport GO:2000643 9.26 RDX EZR
8 positive regulation of protein localization to early endosome GO:1902966 9.16 RDX EZR
9 regulation of organelle assembly GO:1902115 8.96 RDX EZR
10 sensory perception of sound GO:0007605 8.92 TRIOBP TPRN TECTA PJVK

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase A binding GO:0051018 8.62 RDX EZR

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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