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

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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 ³⁷ ²⁹ ⁶ ⁴⁰

X-Linked Deafness ¹²

Classifications:

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

Disease Ontology ¹² DOID:0050566

ICD10 ³³ H90.3

KEGG ³⁷ H01209

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Summaries for X-Linked Nonsyndromic Deafness

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

MalaCards based summary : X-Linked Nonsyndromic Deafness, also known as deafness, x-linked, is related to deafness, x-linked 4 and deafness, x-linked 2. An important gene associated with X-Linked Nonsyndromic Deafness is SMPX (Small Muscle Protein X-Linked).

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Related Diseases for X-Linked Nonsyndromic Deafness

Diseases in the X-Linked Nonsyndromic Deafness family:

Deafness, X-Linked 3	Deafness, X-Linked 4
Deafness, X-Linked 5	Deafness, X-Linked 6
Deafness, X-Linked 2	Deafness, X-Linked 1
Deafness, Y-Linked 1

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

(show all 18)

#	Related Disease	Score	Top Affiliating Genes
1	deafness, x-linked 4	34.0	DFNX3 SMPX
2	deafness, x-linked 2	32.8	POU3F4 PRPS1
3	nonsyndromic deafness	30.2	POU3F4 PRPS1 SMPX
4	deafness, x-linked 1	12.6
5	deafness, x-linked 5	12.6
6	deafness, x-linked 6	12.6
7	deafness, x-linked 3	12.3
8	deafness x-linked, dfn3	12.2
9	deafness, x-linked, dfn	12.2
10	alport syndrome, x-linked	11.3
11	x-linked hereditary sensory and autonomic neuropathy with deafness	11.3
12	retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness	11.2
13	mental retardation, x-linked, syndromic, martin-probst type	11.2
14	x-linked non-syndromic sensorineural deafness type dfn	10.1	PRPS1 SMPX
15	charcot-marie-tooth disease, x-linked recessive, 5	10.0	POU3F4 PRPS1
16	alacrima, achalasia, and mental retardation syndrome	10.0
17	hereditary hearing loss and deafness	9.9	POU3F4 PRPS1 SMPX
18	3-methylglutaconic aciduria, type iii	9.8	PRPS1 TIMM8A

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

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Symptoms & Phenotypes for X-Linked Nonsyndromic Deafness

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Drugs & Therapeutics for X-Linked Nonsyndromic Deafness

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

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Genetic Tests for X-Linked Nonsyndromic Deafness

Genetic tests related to X-Linked Nonsyndromic Deafness:

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

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Anatomical Context for X-Linked Nonsyndromic Deafness

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Publications for X-Linked Nonsyndromic Deafness

Articles related to X-Linked Nonsyndromic Deafness:

#	Title	Authors	Year
1	Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness. ( 16365218 )	Vore A.P....Smith R.J.	2005

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Genes for X-Linked Nonsyndromic Deafness

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SMPX	Small Muscle Protein X-Linked	Protein Coding	417.02	Pathogenic ⁶ DISEASES inferred ¹⁵	24651602
2	DFNX3	Deafness, X-Linked 3	Genetic Locus	50	MalaCards inferred ⁴¹
3	POU3F4	POU Class 3 Homeobox 4	Protein Coding	26.5	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	PRPS1	Phosphoribosyl Pyrophosphate Synthetase 1	Protein Coding	16.82	DISEASES inferred ¹⁵
5	BRWD3	Bromodomain And WD Repeat Domain Containing 3	Protein Coding	16.24	DISEASES inferred ¹⁵
6	DCBLD2	Discoidin, CUB And LCCL Domain Containing 2	Protein Coding	15.82	DISEASES inferred ¹⁵
7	TIMM8A	Translocase Of Inner Mitochondrial Membrane 8A	Protein Coding	15.75	DISEASES inferred ¹⁵
8	COBLL1	Cordon-Bleu WH2 Repeat Protein Like 1	Protein Coding	15.75	DISEASES inferred ¹⁵
9	RAB40AL	RAB40A Like	Protein Coding	15.7	DISEASES inferred ¹⁵

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Variations for X-Linked Nonsyndromic Deafness

ClinVar genetic disease variations for X-Linked Nonsyndromic Deafness:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SMPX	NG_031916.1: c.87dupA	duplication	Pathogenic

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Expression for X-Linked Nonsyndromic Deafness

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

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Pathways for X-Linked Nonsyndromic Deafness

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GO Terms for X-Linked Nonsyndromic Deafness

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Sources for X-Linked Nonsyndromic Deafness

¹ BioSystems

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²⁰ GeneAnalytics

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⁴¹ MalaCards

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⁷⁶ Wikipedia