Deafness, Autosomal Recessive 24 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Ear diseases Blood diseases Neuronal diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the ear and mastoid process

Other disorders of ear

Conductive and sensorineural hearing loss

Sensorineural hearing loss, bilateral

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

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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 deafness, autosomal recessive 98 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

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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 32	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 Recessive 105	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	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 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 19)

#	Related Disease	Score	Top Affiliating Genes
1	deafness, autosomal recessive 98	10.4	TMPRSS3 TMPRSS4
2	deafness, autosomal recessive 8	10.4	TMPRSS3 TMPRSS4
3	deafness, autosomal recessive 85	10.3	TMPRSS3 TMPRSS4
4	deafness, autosomal recessive 83	10.3	TMPRSS3 TMPRSS4
5	non-syndromic genetic deafness	10.3	RDX TMPRSS3
6	deafness, autosomal dominant 2a	10.3	TMPRSS3 TMPRSS4
7	deafness, autosomal recessive 16	10.2	TMPRSS3 TMPRSS4
8	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.2
9	deafness, autosomal dominant 6	10.2	TMPRSS3 TMPRSS4
10	deafness, autosomal dominant 13	10.1	TMPRSS3 TMPRSS4
11	auditory system disease	10.0	TMPRSS3 TMPRSS4
12	nonsyndromic deafness	9.9	RDX TMPRSS3 TMPRSS4
13	autosomal recessive non-syndromic sensorineural deafness type dfnb	9.8	RDX TMPRSS3
14	neisseria meningitidis infection	9.6	EZR MSN
15	male reproductive organ cancer	9.5	HPN TMPRSS2
16	neurilemmoma	9.4	EZR MSN
17	neurofibromatosis, type ii	9.3	EZR MSN RDX
18	meningioma, familial	9.3	EZR MSN RDX
19	deafness, autosomal recessive 25	8.1	CORIN HPN TMPRSS2 TMPRSS3 TMPRSS4 TMPRSS5

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

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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

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Drugs & Therapeutics for Deafness, Autosomal Recessive 24

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

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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

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Anatomical Context for Deafness, Autosomal Recessive 24

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

⁴¹

Brain

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Publications for Deafness, Autosomal Recessive 24

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Genes for Deafness, Autosomal Recessive 24

Genes related to Deafness, Autosomal Recessive 24 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RDX	Radixin	Protein Coding	1343.72	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	17226784 20301607 19215054
2	TMPRSS5	Transmembrane Serine Protease 5	Protein Coding	18.1	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	TMPRSS3	Transmembrane Serine Protease 3	Protein Coding	16.2	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	TMPRSS4	Transmembrane Serine Protease 4	Protein Coding	15.87	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	CORIN	Corin, Serine Peptidase	Protein Coding	15.86	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	MSN	Moesin	Protein Coding	15.15	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	TMPRSS2	Transmembrane Serine Protease 2	Protein Coding	14.87	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	EZR	Ezrin	Protein Coding	14.82	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	HPN	Hepsin	Protein Coding	5.45	DISEASES inferred ¹⁵

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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

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Expression for Deafness, Autosomal Recessive 24

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

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Pathways for Deafness, Autosomal Recessive 24

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

(show all 11)

#	Super pathways	Score	Top Affiliating Genes
1	Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways ⁶⁵ Show member pathways Blood-Brain Barrier and Immune Cell Transmigration: CCL2/MCP-1 Signaling Pathways ⁶⁵ Blood-Brain Barrier and Immune Cell Transmigration: ICAM-1/CD54 Signaling Pathways ⁶⁵ Blood-Brain Barrier and Immune Cell Transmigration: VEGF Signaling Pathways ⁶⁵ Leukocyte transendothelial migration ³⁷	12.25	EZR MSN RDX
2	Regulation of actin cytoskeleton ³⁷ ¹	12.19	EZR MSN RDX
3	Cytoskeletal Signaling ⁴	12.07	EZR MSN RDX
4	Proteoglycans in cancer ³⁷	11.85	EZR MSN RDX
5	Tight junction ³⁷	11.66	EZR MSN RDX
6	L1CAM interactions ⁶⁶ Show member pathways CHL1 interactions ⁶⁶ Neurofascin interactions ⁶⁶ NrCAM interactions ⁶⁶	11.43	EZR MSN RDX
7	AGE/RAGE pathway ¹	11.3	EZR MSN
8	Cell adhesion_ECM remodeling ²²	11.22	EZR MSN
9	Cytoskeleton remodeling_RalA regulation pathway ²²	11.04	EZR MSN RDX
10	Endocytic Trafficking of EGFR ⁶⁴ Show member pathways Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF) ²² Recycling pathway of L1 ⁶⁶ Retrograde neurotrophin signalling ⁶⁶	11.02	EZR MSN RDX
11	RhoA signaling pathway ¹	10.41	EZR MSN RDX

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GO Terms for Deafness, Autosomal Recessive 24

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

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	focal adhesion	GO:0005925	9.72	EZR MSN RDX
2	neuronal cell body	GO:0043025	9.7	HPN TMPRSS3 TMPRSS5
3	myelin sheath	GO:0043209	9.63	EZR MSN RDX
4	apical plasma membrane	GO:0016324	9.62	EZR HPN MSN RDX
5	apical part of cell	GO:0045177	9.54	EZR MSN RDX
6	T-tubule	GO:0030315	9.51	EZR RDX
7	microvillus membrane	GO:0031528	9.49	EZR MSN
8	uropod	GO:0001931	9.43	EZR MSN
9	filopodium	GO:0030175	9.43	EZR MSN RDX
10	invadopodium	GO:0071437	9.4	EZR MSN
11	microvillus	GO:0005902	9.33	EZR MSN RDX
12	cell periphery	GO:0071944	9.13	EZR MSN RDX
13	cell tip	GO:0051286	8.62	EZR RDX
14	membrane	GO:0016020	10.13	CORIN EZR HPN MSN RDX TMPRSS2
15	plasma membrane	GO:0005886	10.08	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

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