X-Linked Nonsyndromic Deafness disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: XLN004 MIFTS: 28	X-Linked Nonsyndromic Deafness Categories: Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Expand all tables

Sources

Aliases & Classifications for X-Linked Nonsyndromic Deafness

MalaCards integrated aliases for X-Linked Nonsyndromic Deafness:

Name: X-Linked Nonsyndromic Deafness ¹² ¹⁵

Deafness, X-Linked ³⁶ ²⁹ ⁶ ³⁹

X-Linked Deafness ¹²

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the ear and mastoid process

Other disorders of ear

Conductive and sensorineural hearing loss

Sensorineural hearing loss, bilateral

External Ids:

Disease Ontology ¹² DOID:0050566

KEGG ³⁶ H01209

ICD10 ³² H90.3

Sources

Summaries for X-Linked Nonsyndromic Deafness

KEGG : ³⁶ Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases of hereditary etiology and syndromic cases represent 30% of them. Among the forms of heritage, autosomal-recessive inheritance is the most frequent one (75%-85%), followed by autosomal-dominant inheritance (12-13%) and X-linked or mitochondrial, with 2-3% of the cases of non-syndromic hearing loss. X-linked deafness is clinically and genetically heterogeneous disorder. PRPS1 and POU3F4 have been identified as the genes to be implicated in X-linked non-syndromic hearing loss.

MalaCards based summary : X-Linked Nonsyndromic Deafness, also known as deafness, x-linked, is related to deafness, x-linked 5, with peripheral neuropathy and mental retardation, x-linked, syndromic, martin-probst type. An important gene associated with X-Linked Nonsyndromic Deafness is SMPX (Small Muscle Protein X-Linked), and among its related pathways/superpathways are Gap junction trafficking and Pentose phosphate pathway. Related phenotype is hearing/vestibular/ear.

Disease Ontology : ¹² A nonsyndromic deafness characterized by an X-linked inheritance mode.

Sources

Related Diseases for X-Linked Nonsyndromic Deafness

Diseases in the Y-Linked Deafness family:

Deafness, X-Linked 3	Deafness, X-Linked 4
Deafness, X-Linked 6	Deafness, X-Linked 7
Deafness, X-Linked 2	Deafness, X-Linked 1
Deafness, Y-Linked 1	Deafness, Y-Linked 2
X-Linked Nonsyndromic Deafness

Diseases related to X-Linked Nonsyndromic Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 113)

#	Related Disease	Score	Top Affiliating Genes
1	deafness, x-linked 5, with peripheral neuropathy	32.3	SMPX PRPS1L1 PRPS1 POU3F4 COL4A6 AIFM1
2	mental retardation, x-linked, syndromic, martin-probst type	32.2	TIMM8A POU3F4
3	x-linked alport syndrome	32.2	COL4A6 COL4A5
4	deafness, x-linked 6	31.7	TIMM8A SMPX PRPS1L1 PRPS1 POU3F4 COL4A6
5	deafness, x-linked 4	31.7	TIMM8A SMPX PRPS1L1 PRPS1 POU3F4 COL4A6
6	deafness, x-linked 3	31.4	TPRN SMPX PRPS1L1 PRPS1 POU3F4 DFNX3
7	deafness, x-linked 1	31.2	TIMM8A SMPX PRPSAP1 PRPS2 PRPS1L1 PRPS1
8	deafness, x-linked 2	30.7	TIMM8A SMPX SLC26A4 PRPS1L1 PRPS1 POU4F3
9	auditory neuropathy spectrum disorder	30.3	MT-RNR1 AIFM1
10	rare genetic deafness	29.6	SLC26A4 POU3F4 MT-TS1 MT-RNR1 GJB2 COL4A5
11	sensorineural hearing loss	28.4	TPRN TIMM8A SMPX SLC26A4 PRPS1 POU4F3
12	alport syndrome 1, x-linked	11.4
13	deafness, x-linked 7	11.2
14	deafness x-linked, dfn3	11.2
15	deafness, x-linked, dfn	11.2
16	x-linked hereditary sensory and autonomic neuropathy with deafness	11.1
17	choroideremia	11.0
18	x-linked charcot-marie-tooth disease	10.4	PRPS1 GJB2
19	charcot-marie-tooth disease type 5	10.4	PRPS1L1 PRPS1
20	nonsyndromic hearing loss and deafness, dfna3	10.4	GJB6 GJB2
21	deafness, autosomal recessive 7	10.4	SLC26A4 GJB2
22	purulent labyrinthitis	10.3	GJB6 GJB2
23	viral labyrinthitis	10.3	GJB6 GJB2
24	charcot-marie-tooth disease, x-linked dominant, 6	10.3	SMPX PRPS2 PRPS1
25	x-linked non-syndromic sensorineural deafness type dfn	10.3	SMPX PRPS1 COL4A6
26	x-linked alport syndrome-diffuse leiomyomatosis	10.3	COL4A6 COL4A5
27	phosphoribosylpyrophosphate synthetase superactivity	10.3	PRPS2 PRPS1L1 PRPS1
28	hypotrichosis-deafness syndrome	10.3	GJB3 GJB2
29	mohr-tranebjaerg syndrome	10.3	TIMM8A SMPX POU3F4
30	nonsyndromic hearing loss and deafness, mitochondrial	10.3	MT-TS1 MT-RNR1
31	serous labyrinthitis	10.3	SLC26A4 GJB2
32	deafness, autosomal dominant 56	10.3	SLC26A4 GJB2
33	charcot-marie-tooth disease x-linked recessive 4	10.3	TIMM8A PRPS1 AIFM1
34	hereditary lymphedema ic	10.3	GJB3 GJB2
35	deafness, autosomal recessive 49	10.3	POU3F4 GJB2
36	congenital cytomegalovirus	10.3	MT-RNR1 GJB6 GJB2
37	labyrinthitis	10.2	SLC26A4 GJB6 GJB2
38	deafness, autosomal dominant 24	10.2	POU4F3 GJB3
39	erythrokeratoderma	10.2	GJB3 GJB2
40	nephrolithiasis/osteoporosis, hypophosphatemic, 2	10.2	GJB2 COL4A5
41	deafness, autosomal dominant 41	10.2	SLC26A4 POU4F3 GJB2
42	deafness, autosomal recessive 77	10.2	SLC26A4 GJB2
43	deafness, nonsyndromic sensorineural, mitochondrial	10.2	POU3F4 MT-TS1 MT-RNR1
44	deafness, autosomal dominant 6	10.2	SLC26A4 POU4F3 GJB2
45	deafness, autosomal recessive 26	10.2	MT-RNR1 GJB2
46	charcot-marie-tooth disease type x	10.2	PRPS2 PRPS1L1 PRPS1 AIFM1
47	pseudoainhum	10.2	GJB6 GJB3 GJB2
48	nonsyndromic hearing loss and deafness, dfnb1	10.2	GJB6 GJB3 GJB2
49	dfnb1	10.2	GJB6 GJB3 GJB2
50	deafness, autosomal dominant 3a	10.2	GJB6 GJB3 GJB2

Graphical network of the top 20 diseases related to X-Linked Nonsyndromic Deafness:

Sources

Symptoms & Phenotypes for X-Linked Nonsyndromic Deafness

MGI Mouse Phenotypes related to X-Linked Nonsyndromic Deafness:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear	MP:0005377	9.17	GJB2 GJB3 GJB6 POU3F4 POU4F3 SLC26A4

Sources

Drugs & Therapeutics for X-Linked Nonsyndromic Deafness

Search Clinical Trials , NIH Clinical Center for X-Linked Nonsyndromic Deafness

Sources

Genetic Tests for X-Linked Nonsyndromic Deafness

Genetic tests related to X-Linked Nonsyndromic Deafness:

#	Genetic test	Affiliating Genes
1	Deafness, X-Linked ²⁹

Sources

Anatomical Context for X-Linked Nonsyndromic Deafness

Sources

Publications for X-Linked Nonsyndromic Deafness

Articles related to X-Linked Nonsyndromic Deafness:

#	Title	Authors	PMID	Year
1	Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. ⁶¹	Liu X...Yuan H	20021999	2010
2	Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness. ⁶¹	Vore AP...Smith RJ	16365218	2005
3	A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity. ⁶¹	Reardon W...Malcolm S	1783396	1991

Sources

Genes for X-Linked Nonsyndromic Deafness

Genes related to X-Linked Nonsyndromic Deafness (2 elite genes):

(show all 25)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SMPX	Small Muscle Protein X-Linked	Protein Coding	408.82	Pathogenic ⁶ DISEASES inferred ¹⁵
2	DFNX3	Deafness, X-Linked 3	Genetic Locus	50	MalaCards inferred ⁴⁰
3	POU3F4	POU Class 3 Homeobox 4	Protein Coding	16.95	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	PRPS1	Phosphoribosyl Pyrophosphate Synthetase 1	Protein Coding	8.53	DISEASES inferred ¹⁵
5	PRPS1L1	Phosphoribosyl Pyrophosphate Synthetase 1 Like 1	Protein Coding	8.11	DISEASES inferred ¹⁵
6	GJB2	Gap Junction Protein Beta 2	Protein Coding	7.04	DISEASES inferred ¹⁵
7	COL4A6	Collagen Type IV Alpha 6 Chain	Protein Coding	6.97	DISEASES inferred ¹⁵
8	PRPS2	Phosphoribosyl Pyrophosphate Synthetase 2	Protein Coding	6.88	DISEASES inferred ¹⁵
9	AIFM1	Apoptosis Inducing Factor Mitochondria Associated 1	Protein Coding	6.88	DISEASES inferred ¹⁵
10	TIMM8A	Translocase Of Inner Mitochondrial Membrane 8A	Protein Coding	6.84	DISEASES inferred ¹⁵
11	GJB6	Gap Junction Protein Beta 6	Protein Coding	6.75	DISEASES inferred ¹⁵
12	POU4F3	POU Class 4 Homeobox 3	Protein Coding	6.47	DISEASES inferred ¹⁵
13	MT-RNR1	Mitochondrially Encoded 12S RRNA	RNA Gene	6.27	DISEASES inferred ¹⁵
14	SLC26A4	Solute Carrier Family 26 Member 4	Protein Coding	6.23	DISEASES inferred ¹⁵
15	MT-TS1	Mitochondrially Encoded TRNA-Ser (UCN) 1	RNA Gene	6.05	DISEASES inferred ¹⁵
16	KANSL1L	KAT8 Regulatory NSL Complex Subunit 1 Like	Protein Coding	6.02	DISEASES inferred ¹⁵
17	COL4A5	Collagen Type IV Alpha 5 Chain	Protein Coding	5.97	DISEASES inferred ¹⁵
18	GJB3	Gap Junction Protein Beta 3	Protein Coding	5.91	DISEASES inferred ¹⁵
19	PRPSAP1	Phosphoribosyl Pyrophosphate Synthetase Associated Protein 1	Protein Coding	5.9	DISEASES inferred ¹⁵
20	TPRN	Taperin	Protein Coding	5.88	DISEASES inferred ¹⁵
21	PRPSAP2	Phosphoribosyl Pyrophosphate Synthetase Associated Protein 2	Protein Coding	5.8	DISEASES inferred ¹⁵
22	SATL1	Spermidine/Spermine N1-Acetyl Transferase Like 1	Protein Coding	5.8	DISEASES inferred ¹⁵
23	RPS6KA6	Ribosomal Protein S6 Kinase A6	Protein Coding	5.8	DISEASES inferred ¹⁵
24	OTOF	Otoferlin	Protein Coding	5.73	DISEASES inferred ¹⁵
25	EYA1	EYA Transcriptional Coactivator And Phosphatase 1	Protein Coding	5.65	DISEASES inferred ¹⁵

Sources

Variations for X-Linked Nonsyndromic Deafness

ClinVar genetic disease variations for X-Linked Nonsyndromic Deafness:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SMPX	NM_014332.3(SMPX):c.87dup (p.Gly30fs)	Duplication	Pathogenic	444056	rs1569308571	GRCh37: X:21761912-21761913 GRCh38: X:21743794-21743795

Sources

Expression for X-Linked Nonsyndromic Deafness

Search GEO for disease gene expression data for X-Linked Nonsyndromic Deafness.

Sources

Pathways for X-Linked Nonsyndromic Deafness

Pathways related to X-Linked Nonsyndromic Deafness according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Gap junction trafficking ⁶⁵ Show member pathways Entry of Influenza Virion into Host Cell via Endocytosis ⁶⁵ Formation of annular gap junctions ⁶⁵ Gap junction assembly ⁶⁵ Gap junction degradation ⁶⁵ Gap junction trafficking and regulation ⁶⁵	11.12	GJB6 GJB3 GJB2
2	Pentose phosphate pathway ³⁶ ¹ ¹ Show member pathways 5-Phosphoribose 1-diphosphate biosynthesis ⁶⁵ Insulin effects increased synthesis of Xylulose-5-Phosphate ⁶⁵ Pentose phosphate pathway (hexose monophosphate shunt) ⁶⁵ pentose phosphate pathway (non-oxidative branch) ¹ pentose phosphate pathway (oxidative branch) ¹ PRPP biosynthesis ¹	10.61	PRPS2 PRPS1L1 PRPS1
3	Nucleotide Metabolism ¹	10.43	PRPS2 PRPS1

Sources

GO Terms for X-Linked Nonsyndromic Deafness

Cellular components related to X-Linked Nonsyndromic Deafness according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	gap junction	GO:0005921	9.33	GJB6 GJB3 GJB2
2	collagen type IV trimer	GO:0005587	9.26	COL4A6 COL4A5
3	connexin complex	GO:0005922	9.13	GJB6 GJB3 GJB2
4	ribose phosphate diphosphokinase complex	GO:0002189	8.92	PRPSAP1 PRPS2 PRPS1L1 PRPS1

Biological processes related to X-Linked Nonsyndromic Deafness according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	inner ear development	GO:0048839	9.73	POU4F3 POU3F4 GJB6 GJB2
2	cell communication	GO:0007154	9.63	GJB6 GJB3 GJB2
3	sensory perception of sound	GO:0007605	9.63	TPRN SLC26A4 POU4F3 POU3F4 GJB6 GJB2
4	nucleoside metabolic process	GO:0009116	9.62	PRPSAP1 PRPS2 PRPS1L1 PRPS1
5	ribonucleoside monophosphate biosynthetic process	GO:0009156	9.58	PRPS2 PRPS1L1 PRPS1
6	purine nucleotide biosynthetic process	GO:0006164	9.56	PRPSAP1 PRPS2 PRPS1L1 PRPS1
7	cellular biosynthetic process	GO:0044249	9.54	PRPS2 PRPS1L1 PRPS1
8	collagen-activated tyrosine kinase receptor signaling pathway	GO:0038063	9.52	COL4A6 COL4A5
9	gap junction assembly	GO:0016264	9.51	GJB6 GJB2
10	cell communication by electrical coupling	GO:0010644	9.49	GJB6 GJB2
11	gap junction-mediated intercellular transport	GO:1990349	9.48	GJB6 GJB2
12	nucleotide biosynthetic process	GO:0009165	9.26	PRPSAP1 PRPS2 PRPS1L1 PRPS1
13	5-phosphoribose 1-diphosphate biosynthetic process	GO:0006015	8.92	PRPSAP1 PRPS2 PRPS1L1 PRPS1

Molecular functions related to X-Linked Nonsyndromic Deafness according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	magnesium ion binding	GO:0000287	9.56	PRPSAP1 PRPS2 PRPS1L1 PRPS1
2	gap junction channel activity involved in cell communication by electrical coupling	GO:1903763	9.16	GJB6 GJB2
3	gap junction channel activity	GO:0005243	9.13	GJB6 GJB3 GJB2
4	ribose phosphate diphosphokinase activity	GO:0004749	8.92	PRPSAP1 PRPS2 PRPS1L1 PRPS1

Sources

Sources for X-Linked Nonsyndromic Deafness

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia