MCID: XLN004
MIFTS: 19

X-Linked Nonsyndromic Deafness malady

Genetic diseases, Ear diseases, Rare diseases, Neuronal diseases categories
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Summaries for X-Linked Nonsyndromic Deafness

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MalaCards based summary: X-Linked Nonsyndromic Deafness, also known as complete hearing loss, is related to nonsyndromic deafness and deafness mixed with perilymphatic gusher, x-linked. An important gene associated with X-Linked Nonsyndromic Deafness is POU3F4 (POU class 3 homeobox 4). Related mouse phenotype craniofacial.

Descriptions from OMIM:46 304500,304400

Aliases & Classifications for X-Linked Nonsyndromic Deafness

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X-Linked Nonsyndromic Deafness, Aliases & Descriptions:

Name: X-Linked Nonsyndromic Deafness 8 10
Complete Hearing Loss 62
 
X-Linked Deafness 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Ear diseases, Neuronal diseases


External Ids:

Disease Ontology8 DOID:0050566

Related Diseases for X-Linked Nonsyndromic Deafness

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Diseases in the Deafness, X-Linked 2 family:

x-linked nonsyndromic deafness Deafness, X-Linked 4
Deafness, X-Linked 3 Deafness, X-Linked 1, Progressive
Deafness, X-Linked 1 Deafness, X-Linked 6
Deafness, X-Linked 5 Deafness, Y-Linked 1

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

idRelated DiseaseScoreTop Affiliating Genes
1nonsyndromic deafness10.3
2deafness mixed with perilymphatic gusher, x-linked10.1
3deafness, x-linked 210.1
4deafness - intellectual disability, martin-probst type10.1
5choroideremia9.9RPS6KA6, POU3F4
6sensorineural hearing loss9.8POU3F4, TIMM8A

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



Diseases related to x-linked nonsyndromic deafness

Symptoms for X-Linked Nonsyndromic Deafness

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Clinical features from OMIM:

304500,304400

Drugs & Therapeutics for X-Linked Nonsyndromic Deafness

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Drug clinical trials:

Search ClinicalTrials for X-Linked Nonsyndromic Deafness

Search NIH Clinical Center for X-Linked Nonsyndromic Deafness

Genetic Tests for X-Linked Nonsyndromic Deafness

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Anatomical Context for X-Linked Nonsyndromic Deafness

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Animal Models for X-Linked Nonsyndromic Deafness or affiliated genes

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MGI Mouse Phenotypes related to X-Linked Nonsyndromic Deafness:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.3RPS6KA6, POU3F4

Publications for X-Linked Nonsyndromic Deafness

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Articles related to X-Linked Nonsyndromic Deafness:

idTitleAuthorsYear
1
Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness. (16365218)
2005

Variations for X-Linked Nonsyndromic Deafness

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Expression for genes affiliated with X-Linked Nonsyndromic Deafness

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Expression patterns in normal tissues for genes affiliated with X-Linked Nonsyndromic Deafness

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

Pathways for genes affiliated with X-Linked Nonsyndromic Deafness

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Compounds for genes affiliated with X-Linked Nonsyndromic Deafness

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GO Terms for genes affiliated with X-Linked Nonsyndromic Deafness

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Products for genes affiliated with X-Linked Nonsyndromic Deafness

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  • Antibodies
  • Proteins
  • Lysates

Sources for X-Linked Nonsyndromic Deafness

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet