MCID: XLN004
MIFTS: 18

X-Linked Nonsyndromic Deafness malady

Ear diseases category

Summaries for X-Linked Nonsyndromic Deafness

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46OMIM, 32MalaCards
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MalaCards: X-Linked Nonsyndromic Deafness, also known as complete hearing loss, is related to nonsyndromic deafness and sensorineural hearing loss. An important gene associated with X-Linked Nonsyndromic Deafness is POU3F4 (POU class 3 homeobox 4), and among its related pathways is Axon guidance.

Description from OMIM:46 304500,304400

Aliases & Classifications for X-Linked Nonsyndromic Deafness

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Sources:
8Disease Ontology, 10DISEASES, 60UMLS, 46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Ear diseases


Aliases & Descriptions:

x-linked nonsyndromic deafness 8 10
complete hearing loss 60
x-linked deafness 8


External Ids:

Disease Ontology8 DOID:0050566

Related Diseases for X-Linked Nonsyndromic Deafness

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to X-Linked Nonsyndromic Deafness:



Diseases related to x-linked nonsyndromic deafness

Clinical Features for X-Linked Nonsyndromic Deafness

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46OMIM
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Clinical features from OMIM:

304500,304400

Drugs & Therapeutics for X-Linked Nonsyndromic Deafness

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for X-Linked Nonsyndromic Deafness

Search NIH Clinical Center for X-Linked Nonsyndromic Deafness

Search CenterWatch 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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Publications for X-Linked Nonsyndromic Deafness

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Sources:
50PubMed
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Articles related to X-Linked Nonsyndromic Deafness:

idTitleAuthorsYear
1
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. (20021999)
2010
2
Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness. (16365218)
2005

Genetic Variations for X-Linked Nonsyndromic Deafness

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Expression for genes affiliated with X-Linked Nonsyndromic Deafness

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
53Reactome
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Pathways related to X-Linked Nonsyndromic Deafness according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.1RPS6KA6, COL4A5

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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Sources:
16Gene Ontology
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Biological processes related to X-Linked Nonsyndromic Deafness according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axon guidanceGO:0074119.1RPS6KA6, COL4A5

Products for genes affiliated with X-Linked Nonsyndromic Deafness

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet