DFNX2
MCID: DFN036
MIFTS: 33

Deafness, X-Linked 2 (DFNX2) malady

Categories: Genetic diseases, Rare diseases, Ear diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Deafness, X-Linked 2

Aliases & Descriptions for Deafness, X-Linked 2:

Name: Deafness, X-Linked 2 54 50 13
Nance Deafness 50 56 66
Dfnx2 50 56 66
X-Linked Mixed Conductive and Sensorineural Deafness 56 66
X-Linked Mixed Conductive and Neurosensory Deafness 56 66
Deafness 3 Conductive with Stapes Fixation 50 66
Deafness Conductive with Stapes Fixation 50 66
Deafness Mixed with Perilymphatic Gusher 50 66
Perilymphatic Gusher-Deafness Syndrome 50 66
Deafness, X-Linked, 2 66 29
Dfn3 50 66
Sensorineural Deafness, Profound, with or Without a Conductive Component, Associated with a Unique Developmental Abnormality of the Ear 50
Deafness X-Linked 2 with Non-Syndromic Mental Retardation 66
X-Linked Mixed Conductive and Sensorineural Hearing Loss 56
X-Linked Mixed Conductive and Neurosensory Hearing Loss 56
X-Linked Mixed Deafness with Perilymphatic Gusher 56
Deafness Mixed with Perilymph Gusher X-Linked 66
Dfn 3 Nonsyndromic Hearing Loss and Deafness 50
Conductive Deafness with Stapes Fixation 56
Progressive Hearing Loss Stapes Fixation 69
X-Linked Stapes Gusher Syndrome 56
X-Linked Deafness Type 2 56
Gusher Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
x-linked mixed deafness with perilymphatic gusher
Inheritance: X-linked recessive; Age of onset: Infancy; Age of death: normal life expectancy;

HPO:

32
deafness, x-linked 2:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 304400
Orphanet 56 ORPHA383
ICD10 via Orphanet 34 H90.8
MedGen 40 C2677850
MeSH 42 D046089

Summaries for Deafness, X-Linked 2

OMIM : 54 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 nance deafness, is related to deafness, x-linked 1 and choroideremia, and has symptoms including conductive hearing impairment, progressive sensorineural hearing impairment and stapes ankylosis. An important gene associated with Deafness, X-Linked 2 is POU3F4 (POU Class 3 Homeobox 4). The drugs Benazepril and Fluvastatin have been mentioned in the context of this disorder. Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 66 Deafness, X-linked, 2: A form of deafness characterized by both conductive hearing loss resulting from stapes (perilymphatic gusher) fixation, and progressive sensorineural deafness.

Related Diseases for Deafness, X-Linked 2

Graphical network of the top 20 diseases related to Deafness, X-Linked 2:



Diseases related to Deafness, X-Linked 2

Symptoms & Phenotypes for Deafness, X-Linked 2

Symptoms by clinical synopsis from OMIM:

304400

Clinical features from OMIM:

304400

Human phenotypes related to Deafness, X-Linked 2:

32
id Description HPO Frequency HPO Source Accession
1 conductive hearing impairment 32 HP:0000405
2 progressive sensorineural hearing impairment 32 HP:0000408
3 stapes ankylosis 32 HP:0000381
4 dilatated internal auditory canal 32 HP:0004458

Drugs & Therapeutics for Deafness, X-Linked 2

Drugs for Deafness, X-Linked 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benazepril Approved, Investigational Phase 2 86541-75-5 5362124
2
Fluvastatin Approved Phase 2 93957-54-1 1548972
3
Valsartan Approved, Investigational Phase 2 137862-53-4 60846
4
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
5
alemtuzumab Approved, Investigational Phase 2 216503-57-0
6
Busulfan Approved, Investigational Phase 2 55-98-1 2478
7
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
8
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
9
rituximab Approved Phase 2 174722-31-7 10201696
10
Thiotepa Approved Phase 2 52-24-4 5453
11
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
12
Angiotensin II Phase 2 68521-88-0, 11128-99-7 65143 172198
13 Angiotensin II Type 1 Receptor Blockers Phase 2
14 Angiotensin Receptor Antagonists Phase 2
15 Angiotensin-Converting Enzyme Inhibitors Phase 2
16 Angiotensinogen Phase 2
17 Anticholesteremic Agents Phase 2
18 Antihypertensive Agents Phase 2
19 Antimetabolites Phase 2
20 HIV Protease Inhibitors Phase 2
21 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
22 Hypolipidemic Agents Phase 2
23 Lipid Regulating Agents Phase 2
24 Liver Extracts Phase 2
25
protease inhibitors Phase 2
26 Alkylating Agents Phase 2
27 Antilymphocyte Serum Phase 2
28 Antimetabolites, Antineoplastic Phase 2
29 Antineoplastic Agents, Alkylating Phase 2
30 Immunosuppressive Agents Phase 2
31 N-monoacetylcystine Phase 2
32 Thioctic Acid Phase 2
33 Tocopherols Phase 2
34 Tocotrienols Phase 2
35 Vitamins Phase 2
36 Alpha-lipoic Acid Nutraceutical Phase 2
37 Tocopherol Nutraceutical Phase 2
38 Tocotrienol Nutraceutical Phase 2
39 Anti-Bacterial Agents Phase 1
40 Anti-Infective Agents Phase 1
41 Gentamicins Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Effects of an Intensified Treatment With ACE-I,ATA II and Statins in Alport Syndrome Completed NCT00309257 Phase 2
2 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
3 Gentamicin Treatment of Muscular Dystrophy Completed NCT00005574 Phase 1
4 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Deafness, X-Linked 2

Genetic Tests for Deafness, X-Linked 2

Genetic tests related to Deafness, X-Linked 2:

id Genetic test Affiliating Genes
1 Deafness, X-Linked 2 29

Anatomical Context for Deafness, X-Linked 2

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

39
Bone

Publications for Deafness, X-Linked 2

Variations for Deafness, X-Linked 2

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

66
id Symbol AA change Variation ID SNP ID
1 POU3F4 p.Ala312Val VAR_003782
2 POU3F4 p.Leu317Trp VAR_003783
3 POU3F4 p.Arg323Gly VAR_003784
4 POU3F4 p.Arg330Ser VAR_003785
5 POU3F4 p.Lys334Glu VAR_003786

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

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 POU3F4 NM_000307.4(POU3F4): c.950T> G (p.Leu317Trp) single nucleotide variant Pathogenic rs104894921 GRCh37 Chromosome X, 82764282: 82764282
2 POU3F4 POU3F4, ASP215TER undetermined variant Pathogenic
3 POU3F4 NM_000307.4(POU3F4): c.604A> T (p.Lys202Ter) single nucleotide variant Pathogenic rs104894920 GRCh37 Chromosome X, 82763936: 82763936
4 POU3F4 NM_000307.4(POU3F4): c.1000A> G (p.Lys334Glu) single nucleotide variant Pathogenic rs104894922 GRCh37 Chromosome X, 82764332: 82764332
5 POU3F4 NM_000307.4(POU3F4): c.862_865delAGTG (p.Val289Argfs) deletion Pathogenic rs730882189 GRCh37 Chromosome X, 82764194: 82764197
6 POU3F4 NM_000307.4(POU3F4): c.935C> T (p.Ala312Val) single nucleotide variant Pathogenic rs387906502 GRCh37 Chromosome X, 82764267: 82764267
7 POU3F4 NM_000307.4(POU3F4): c.990A> T (p.Arg330Ser) single nucleotide variant Pathogenic rs104894923 GRCh37 Chromosome X, 82764322: 82764322
8 POU3F4 NM_000307.4(POU3F4): c.967C> G (p.Arg323Gly) single nucleotide variant Pathogenic rs104894924 GRCh37 Chromosome X, 82764299: 82764299
9 POU3F4 NM_000307.4(POU3F4): c.1060delA (p.Thr354Glnfs) deletion Pathogenic rs398122517 GRCh38 Chromosome X, 83509384: 83509384
10 POU3F4 NM_000307.4(POU3F4): c.950dupT (p.Leu317Phefs) duplication Pathogenic rs398122516 GRCh37 Chromosome X, 82764282: 82764282
11 POU3F4 NM_000307.4(POU3F4): c.896delA (p.Lys299Serfs) deletion Pathogenic rs267606974 GRCh37 Chromosome X, 82764227: 82764227
12 POU3F4 NM_000307.4(POU3F4): c.235C> T (p.Gln79Ter) single nucleotide variant Pathogenic rs878853242 GRCh38 Chromosome X, 83508559: 83508559
13 POU3F4 NM_000307.4(POU3F4): c.845G> T (p.Arg282Leu) single nucleotide variant Pathogenic rs1060499806 GRCh38 Chromosome X, 83509169: 83509169
14 POU3F4 NM_000307.4(POU3F4): c.877C> G (p.Leu293Val) single nucleotide variant Pathogenic rs780027419 GRCh38 Chromosome X, 83509201: 83509201

Expression for Deafness, X-Linked 2

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

Pathways for Deafness, X-Linked 2

GO Terms for Deafness, X-Linked 2

Sources for Deafness, X-Linked 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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