MCID: XLN004
MIFTS: 19

X-Linked Nonsyndromic Deafness malady

Genetic diseases, Ear diseases, Rare diseases, Neuronal diseases categories

Summaries for X-Linked Nonsyndromic Deafness

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Sources:
48OMIM, 34MalaCards
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MalaCards: 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.

Description from OMIM:48 304500,304400

Aliases & Classifications for X-Linked Nonsyndromic Deafness

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Sources:
9Disease Ontology, 11DISEASES, 63UMLS, 48OMIM
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Classifications:

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


Aliases & Descriptions:

x-linked nonsyndromic deafness 9 11
complete hearing loss 63
x-linked deafness 9


External Ids:

Disease Ontology9 DOID:0050566

Related Diseases for X-Linked Nonsyndromic Deafness

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Sources:
18GeneCards, 19GeneDecks
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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
4mental retardation, x-linked, syndromic, martin-probst type10.1
5choroideremia10.0RPS6KA6, POU3F4
6sensorineural hearing loss10.0POU3F4, 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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Sources:
48OMIM
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Clinical features from OMIM:

304500,304400

Drugs & Therapeutics for X-Linked Nonsyndromic Deafness

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for X-Linked Nonsyndromic Deafness

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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Sources:
38MGI
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MGI Mouse Phenotypes related to X-Linked Nonsyndromic Deafness:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.3RPS6KA6, POU3F4

Publications for X-Linked Nonsyndromic Deafness

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Sources:
53PubMed
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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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Sources:
2BioGPS, 16Gene 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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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
  • Antibodies

Sources for X-Linked Nonsyndromic Deafness

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet