DFN3
MCID: DFN036
MIFTS: 31

Deafness, X-Linked 2 (DFN3) malady

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

Summaries for Deafness, X-Linked 2

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Sources:
48OMIM, 34MalaCards
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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:48 304400

Aliases & Classifications for Deafness, X-Linked 2

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Sources:
44NIH Rare Diseases, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 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):

50
nance deafness:
Inheritance: X-linked recessive; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

deafness, x-linked 2 44 23 48
nance deafness 44 50
dfnx2 44 50
sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear 44
x-linked mixed conductive and sensorineural hearing loss 50
x-linked mixed conductive and neurosensory hearing loss 50
x-linked mixed conductive and sensorineural deafness 50
x-linked mixed conductive and neurosensory deafness 50
x-linked mixed deafness with perilymphatic gusher 50
dfn 3 nonsyndromic hearing loss and deafness 44
deafness 3 conductive with stapes fixation 44
deafness mixed with perilymphatic gusher 44
deafness conductive with stapes fixation 44
conductive deafness with stapes fixation 50
progressive hearing loss stapes fixation 63
perilymphatic gusher-deafness syndrome 44
x-linked stapes gusher syndrome 50
x-linked deafness type 2 50
complete hearing loss 63
gusher syndrome 44
dfn3 44


External Ids:

OMIM48 304400
ICD10 via Orphanet27 H90.8

Related Diseases for Deafness, X-Linked 2

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Sources:
18GeneCards, 19GeneDecks
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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:
48OMIM
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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:
23GTR
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Genetic tests related to Deafness, X-Linked 2:

id Genetic test Affiliating Genes
1 Deafness, X-Linked 223

Anatomical Context for Deafness, X-Linked 2

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Sources:
34MalaCards
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MalaCards organs/tissues related to Deafness, X-Linked 2:

34
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:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Deafness, X-Linked 2:

65
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, 16Gene 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
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