DFN3
MCID: DFN036
MIFTS: 34

Deafness, X-Linked 2 (DFN3) malady

Ear diseases, Neuronal diseases categories

Summaries for Deafness, X-Linked 2

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46OMIM, 32MalaCards
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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). Affiliated tissues include bone.

Description from OMIM:46 304400

Aliases & Classifications for Deafness, X-Linked 2

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 22 46
x-linked mixed conductive and sensorineural hearing loss 48
x-linked mixed conductive and neurosensory hearing loss 48
x-linked mixed conductive and sensorineural deafness 48
x-linked mixed conductive and neurosensory deafness 48
x-linked mixed deafness with perilymphatic gusher 48
dfn 3 nonsyndromic hearing loss and deafness 42
deafness 3 conductive with stapes fixation 42
deafness mixed with perilymphatic gusher 42
deafness conductive with stapes fixation 42
progressive hearing loss stapes fixation 60
conductive deafness with stapes fixation 48
x-linked stapes gusher syndrome 48
x-linked deafness type 2 48
complete hearing loss 60
nance deafness 48
dfnx2 48
dfn3 42


External Ids:

OMIM46 304400
ICD10 via Orphanet26 H90.8

Related Diseases for Deafness, X-Linked 2

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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

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Sources:
46OMIM
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Clinical features from OMIM:

304400

Clinical synopsis from OMIM:

304400

Drugs & Therapeutics for Deafness, X-Linked 2

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Sources:
5CenterWatch, 41NIH 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

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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

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Sources:
32MalaCards
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MalaCards organs/tissues related to Deafness, X-Linked 2:

32
Bone

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

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Publications for Deafness, X-Linked 2

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Genetic Variations for Deafness, X-Linked 2

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Deafness, X-Linked 2:

62
id Symbol AA change Variation ID 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

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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

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Compounds for genes affiliated with Deafness, X-Linked 2

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

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Products for genes affiliated with Deafness, X-Linked 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Deafness, X-Linked 2

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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