DFN3
MCID: DFN036
MIFTS: 25

Deafness, X-Linked 2 (DFN3) malady

Ear, Neuronal categories

Summaries for Deafness, X-Linked 2

Sources:
47OMIM, 33MalaCards
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MalaCards: Deafness, X-Linked 2, also known as x-linked mixed conductive and sensorineural hearing loss, is related to sensorineural hearing loss and deafness mixed with perilymphatic gusher, x-linked. An important gene associated with Deafness, X-Linked 2 is POU3F4 (POU class 3 homeobox 4).

Description from OMIM:47 304400

Aliases & Classifications for Deafness, X-Linked 2

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
x-linked mixed conductive and sensorineural hearing loss:
Inheritance: X-linked recessive; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

deafness, x-linked 2 43 22 47
x-linked mixed conductive and sensorineural hearing loss 49
x-linked mixed conductive and neurosensory hearing loss 49
x-linked mixed conductive and sensorineural deafness 49
x-linked mixed conductive and neurosensory deafness 49
x-linked mixed deafness with perilymphatic gusher 49
dfn 3 nonsyndromic hearing loss and deafness 43
deafness 3 conductive with stapes fixation 43
deafness mixed with perilymphatic gusher 43
deafness conductive with stapes fixation 43
progressive hearing loss stapes fixation 61
conductive deafness with stapes fixation 49
x-linked stapes gusher syndrome 49
x-linked deafness type 2 49
complete hearing loss 61
nance deafness 49
dfnx2 49
dfn3 43


External Ids:

OMIM47 304400
ICD10 via Orphanet26 H90.8

Related Diseases for Deafness, X-Linked 2

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Deafness, X-Linked 2:



Diseases related to deafness, x-linked 2

Clinical Features for Deafness, X-Linked 2

Sources:
47OMIM
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Clinical features from OMIM:

304400

Clinical synopsis from OMIM:

304400

Drugs & Therapeutics for Deafness, X-Linked 2

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Deafness, X-Linked 2

Drug clinical trials:

Search ClinicalTrials for Deafness, X-Linked 2

Search NIH Clinical Center for Deafness, X-Linked 2

Search CenterWatch for Deafness, X-Linked 2

Genetic Tests for Deafness, X-Linked 2

Sources:
22GTR
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Genetic tests related to Deafness, X-Linked 2:

id Genetic test Affiliating Genes
1 Deafness, X-linked 222

Anatomical Context for Deafness, X-Linked 2

Animal Models for Deafness, X-Linked 2 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Deafness, X-Linked 2

Genetic Variations for Deafness, X-Linked 2

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Deafness, X-Linked 2:

63
id Symbol AA change Variation SNP ID
1POU3F4p.Ala312ValVAR_003782
2POU3F4p.Leu317TrpVAR_003783
3POU3F4p.Arg323GlyVAR_003784
4POU3F4p.Arg330SerVAR_003785
5POU3F4p.Lys334GluVAR_003786

Expression for genes affiliated with Deafness, X-Linked 2

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Deafness, X-Linked 2

Search GEO for disease gene expression data for Deafness, X-Linked 2.

Pathways for genes affiliated with Deafness, X-Linked 2

Compounds for genes affiliated with Deafness, X-Linked 2

GO Terms for genes affiliated with Deafness, X-Linked 2

Products for genes affiliated with Deafness, X-Linked 2

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Deafness, X-Linked 2

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet