DFN3
MCID: DFN036
MIFTS: 31

Deafness, X-Linked 2 (DFN3) malady

Genetic diseases, Rare diseases, Ear diseases, Neuronal diseases categories
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Summaries for Deafness, X-Linked 2

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Sources:
47OMIM, 33MalaCards
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MalaCards: Deafness, X-Linked 2, also known as nance deafness, 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:47 304400

Aliases & Classifications for Deafness, X-Linked 2

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Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
nance deafness:
Inheritance: X-linked recessive; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

deafness, x-linked 2 43 22 47
nance deafness 43 49
dfnx2 43 49
sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear 43
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
conductive deafness with stapes fixation 49
progressive hearing loss stapes fixation 62
perilymphatic gusher-deafness syndrome 43
x-linked stapes gusher syndrome 49
x-linked deafness type 2 49
complete hearing loss 62
gusher syndrome 43
dfn3 43


External Ids:

OMIM47 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 diseases related to Deafness, X-Linked 2:



Diseases related to deafness, x-linked 2

Symptoms for Deafness, X-Linked 2

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Sources:
47OMIM
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Symptoms by clinical synopsis from OMIM:

304400

Clinical features from OMIM:

304400

Drugs & Therapeutics for Deafness, X-Linked 2

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Deafness, X-Linked 2

Search NIH Clinical Center 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:
33MalaCards
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MalaCards organs/tissues related to Deafness, X-Linked 2:

33
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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Variations for Deafness, X-Linked 2

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Deafness, X-Linked 2:

64
id Symbol AA change Variation ID SNP ID
1POU3F4p.Ala312ValVAR_003782
2POU3F4p.Leu317TrpVAR_003783
3POU3F4p.Arg323GlyVAR_003784
4POU3F4p.Arg330SerVAR_003785
5POU3F4p.Lys334GluVAR_003786

Clinvar genetic disease variations for Deafness, X-Linked 2:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1POU3F4POU3F4, LEU298TERundetermined variantPathogenic
2POU3F4POU3F4, ASP215TERundetermined variantPathogenic
3POU3F4NM_000307.4(POU3F4): c.604A> T (p.Lys202Ter)single nucleotide variantPathogenicrs104894920GRCh37Chr X, 82763936: 82763936
4POU3F4NM_000307.4(POU3F4): c.950T> G (p.Leu317Trp)single nucleotide variantPathogenicrs104894921GRCh37Chr X, 82764282: 82764282
5POU3F4NM_000307.4(POU3F4): c.1000A> G (p.Lys334Glu)single nucleotide variantPathogenicrs104894922GRCh37Chr X, 82764332: 82764332
6POU3F4POU3F4, 4-BP DELdeletionPathogenic
7POU3F4NM_000307.4(POU3F4): c.935C> T (p.Ala312Val)single nucleotide variantPathogenicrs387906502GRCh37Chr X, 82764267: 82764267
8POU3F4NM_000307.4(POU3F4): c.990A> T (p.Arg330Ser)single nucleotide variantPathogenicrs104894923GRCh37Chr X, 82764322: 82764322
9POU3F4NM_000307.4(POU3F4): c.967C> G (p.Arg323Gly)single nucleotide variantPathogenicrs104894924GRCh37Chr X, 82764299: 82764299
10POU3F4NM_000307.4(POU3F4): c.950dupT (p.Leu317Phefs)duplicationPathogenicrs398122516GRCh37Chr X, 82764282: 82764282
11POU3F4NM_000307.4(POU3F4): c.1060delA (p.Thr354Glnfs)deletionPathogenicrs398122517GRCh37Chr X, 82764392: 82764392

Expression for genes affiliated with Deafness, X-Linked 2

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Sources:
2BioGPS, 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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet