MCID: DFN036
MIFTS: 29

Deafness, X-Linked 2 malady

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

Aliases & Classifications for Deafness, X-Linked 2

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet
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Aliases & Descriptions for Deafness, X-Linked 2:

Name: Deafness, X-Linked 2 46 9 42
X-Linked Deafness Type 2 42 48 22
X-Linked Mixed Conductive and Sensorineural Hearing Loss 42 48
X-Linked Mixed Conductive and Neurosensory Hearing Loss 42 48
X-Linked Mixed Conductive and Sensorineural Deafness 42 48
X-Linked Mixed Conductive and Neurosensory Deafness 42 48
X-Linked Mixed Deafness with Perilymphatic Gusher 42 48
Conductive Deafness with Stapes Fixation 42 48
X-Linked Stapes Gusher Syndrome 42 48
Nance Deafness 42 48
 
Dfnx2 42 48
Sensorineural Deafness, Profound, with or Without a Conductive Component, Associated with a Unique Developmental Abnormality of the Ear 42
Dfn 3 Nonsyndromic Hearing Loss and Deafness 42
Deafness 3 Conductive with Stapes Fixation 42
Progressive Hearing Loss Stapes Fixation 61
Deafness Conductive with Stapes Fixation 42
Deafness Mixed with Perilymphatic Gusher 42
Perilymphatic Gusher-Deafness Syndrome 42
Gusher Syndrome 42
Dfn3 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
x-linked deafness type 2:
Inheritance: X-linked recessive; Age of onset: Infancy; Age of death: normal life expectancy


External Ids:

OMIM46 304400
Orphanet48 383
ICD10 via Orphanet26 H90.8

Summaries for Deafness, X-Linked 2

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OMIM:46 DFNX2, also known as DFN3, is an X-linked recessive disorder characterized by progressive conductive and sensorineural... (304400) more...

MalaCards based summary: Deafness, X-Linked 2, also known as x-linked deafness type 2, is related to sensorineural hearing loss and deafness mixed with perilymphatic gusher, x-linked, and has symptoms including stapes ankylosis, conductive hearing impairment and progressive sensorineural hearing impairment. An important gene associated with Deafness, X-Linked 2 is POU3F4 (POU class 3 homeobox 4). Affiliated tissues include bone.

Related Diseases for Deafness, X-Linked 2

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Diseases in the X-Linked Nonsyndromic Deafness family:

Deafness, X-Linked 4 Deafness, X-Linked 3
deafness, x-linked 2 Deafness, X-Linked 1
Deafness, X-Linked 6 Deafness, X-Linked 5
Deafness, Y-Linked 1

Diseases related to Deafness, X-Linked 2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1sensorineural hearing loss29.9PRPS1, POU3F4
2deafness mixed with perilymphatic gusher, x-linked10.8
3dfnx2 nonsyndromic hearing loss and deafness10.3
4deafness x-linked, dfn310.3
5choroideremia10.1
6nonsyndromic deafness10.1
7mondini dysplasia10.1

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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Symptoms by clinical synopsis from OMIM:

304400

Clinical features from OMIM:

304400

HPO human phenotypes related to Deafness, X-Linked 2:

id Description Frequency HPO Source Accession
1 stapes ankylosis HP:0000381
2 conductive hearing impairment HP:0000405
3 progressive sensorineural hearing impairment HP:0000408
4 x-linked recessive inheritance HP:0001419
5 dilatated internal auditory canal HP:0004458

Drugs & Therapeutics for Deafness, X-Linked 2

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

31
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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UniProtKB/Swiss-Prot genetic disease variations for Deafness, X-Linked 2:

63
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:

5 (show all 11)
id Gene Variation 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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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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Sources for Deafness, X-Linked 2

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet