MCID: DFN036
MIFTS: 29

Deafness, X-Linked 2 malady

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

Aliases & Classifications for Deafness, X-Linked 2

About this section

Aliases & Descriptions for Deafness, X-Linked 2:

Name: Deafness, X-Linked 2 49 11 45
Deafness 3 Conductive with Stapes Fixation 45 67
Deafness Mixed with Perilymphatic Gusher 45 67
Deafness Conductive with Stapes Fixation 45 67
Perilymphatic Gusher-Deafness Syndrome 45 67
Deafness, X-Linked, 2 67 24
Nance Deafness 45 67
Dfnx2 45 67
Dfn3 45 67
 
Sensorineural Deafness, Profound, with or Without a Conductive Component, Associated with a Unique Developmental Abnormality of the Ear 45
Deafness X-Linked 2 with Non-Syndromic Mental Retardation 67
X-Linked Mixed Conductive and Sensorineural Deafness 67
X-Linked Mixed Conductive and Neurosensory Deafness 67
Deafness Mixed with Perilymph Gusher X-Linked 67
Dfn 3 Nonsyndromic Hearing Loss and Deafness 45
Progressive Hearing Loss Stapes Fixation 65
Gusher Syndrome 45

Characteristics:

HPO:

61
deafness, x-linked 2:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM49 304400
MedGen34 C2677850
MeSH36 D046089
UMLS65 C1844678

Summaries for Deafness, X-Linked 2

About this section
OMIM:49 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 deafness 3 conductive with stapes fixation, is related to deafness, x-linked 1 and deafness mixed with perilymphatic gusher, x-linked, and has symptoms including dilatated internal auditory canal, progressive sensorineural hearing impairment and conductive hearing impairment. An important gene associated with Deafness, X-Linked 2 is POU3F4 (POU Class 3 Homeobox 4). Affiliated tissues include bone and liver.

UniProtKB/Swiss-Prot:67 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

About this section

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



Diseases related to deafness, x-linked 2

Symptoms for Deafness, X-Linked 2

About this section

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 dilatated internal auditory canal HP:0004458
2 progressive sensorineural hearing impairment HP:0000408
3 conductive hearing impairment HP:0000405
4 stapes ankylosis HP:0000381

Drugs & Therapeutics for Deafness, X-Linked 2

About this section

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

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Benazeprilapproved, investigationalPhase 24586541-75-55362124
Synonyms:
2-[(3S)-3-[[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino]-2-oxo-4,5-dihydro-3H-1-benzazepin-1-yl]acetic acid
86541-75-5
AC1NSFPL
BIDD:GT0800
BRD-K49807096-003-02-3
BSPBio_003487
Benazepril
Benazepril (INN)
Benazepril HCl
Benazepril Hydrochloride
Benazepril Sandoz
Benazepril Sandoz (TN)
Benazepril [INN:BAN]
Benazeprilum
Benazeprilum [Latin]
Briem
C06843
CGS-14824-A
CHEBI:3011
CHEMBL838
CID5362124
Cibacen
Cibacene
D07499
DB00542
 
Forteekor [veterinary]
Forteekor [veterinary] (TN)
KBio2_002457
KBio2_005025
KBio2_007593
KBio3_002707
KBioGR_000812
KBioSS_002464
LS-27973
Lotensin
NCGC00165740-01
NCGC00165740-02
SPBio_000343
STK627447
Spectrum2_000482
Spectrum3_001674
Spectrum4_000286
Spectrum5_001546
Spectrum_001922
UNII-UDM7Q7QWP8
[(3S)-3-({(1S)-1-[(ethyloxy)carbonyl]-3-phenylpropyl}amino)-2-oxo-2,3,4,5-tetrahydro-1H-1-benzazepin-1-yl]acetic acid
[(3S)-3-{[(1S)-1-(ethoxycarbonyl)-3-phenylpropyl]amino}-2-oxo-2,3,4,5-tetrahydro-1H-1-benzazepin-1-yl]acetic acid
[(3S)-3-{[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino}-2-oxo-2,3,4,5-tetrahydro-1H-1-benzazepin-1-yl]acetic acid
benazapril
benazepril
benzazepril
2
FluvastatinapprovedPhase 25893957-54-11548972
Synonyms:
(+)-(3R,5S)-fluvastatin
(-)-(3S,5R)-fluvastatin
(3R,5R,6E)-7-[3-(4-fluorophenyl)-1-(propan-2-yl)-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5R,6E)-7-[3-(4-fluorophenyl)-1-isopropyl-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5S)-7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5S,6E)-7-[3-(4-fluorophenyl)-1-(1-methylethyl)-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5S,6E)-7-[3-(4-fluorophenyl)-1-(propan-2-yl)-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5S,6E)-7-[3-(4-fluorophenyl)-1-isopropyl-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5S,6E)-rel-7-[3-(4-Fluorophenyl)-1-(1-methylethyl)-1H-indol-2-yl]-3,5-dihydroxy-6-heptenoic acid
(3S,5R,6E)-7-[3-(4-fluorophenyl)-1-(propan-2-yl)-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3S,5R,6E)-7-[3-(4-fluorophenyl)-1-isopropyl-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(6E)-7-[3-(4-fluorophenyl)-1-(propan-2-yl)-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(6E)-7-[3-(4-fluorophenyl)-1-isopropyl-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(E)-7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(E,3R,5S)-7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(E,3S,5R)-7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(Z,3R,5S)-7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
7-(3-(4-fluorophenyl)-1-(1-methylethyl)-1H-indol-2-yl)-3,5-dihydroxy-6-heptenoate
7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
93957-54-1
AC1L1FUW
AC1L3TXK
AC1L9J7I
AC1LU7LJ
AC1NS4EB
AC1OC9O5
AC1Q1PZO
BIDD:GT0839
BPBio1_000965
BRD-K03602135-236-02-1
BSPBio_000877
C07014
C24H26FNO4
CHEBI:38562
CHEBI:38565
CHEBI:38567
CHEBI:5136
CHEMBL1078
CHEMBL170417
CID10501876
CID146801
CID1548972
CID3403
 
CID446155
CID5353627
CID6914285
CID9887837
CPD001453708
Canef
Cranoc
D07983
DB01095
Fluindostatin
Fluvas
Fluvas (TN)
Fluvastatin
Fluvastatin & Primycin
Fluvastatin (INN)
Fluvastatin Sodium
Fluvastatin [INN:BAN]
Fluvastatina
Fluvastatina [INN-Spanish]
Fluvastatine
Fluvastatine [INN-French]
Fluvastatinum
Fluvastatinum [INN-Latin]
HMS2089P06
I06-2297
LS-7404
Lescol
Lescol XL
Lescol Xl
MolPort-003-847-470
Prestwick0_000859
Prestwick1_000859
Prestwick2_000859
Prestwick3_000859
SAM002548940
SPBio_002798
T6624179
TL8005940
UNII-4L066368AS
XU 62320
XU-62320
fluvastatin
fluvastatin sodium
nchembio.301-comp9
nchembio790-comp18
3
Valsartanapproved, investigationalPhase 2268137862-53-460846
Synonyms:
(2S)-3-methyl-2-[pentanoyl-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]amino]butanoic acid
(S)-N-Valeryl-N-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]-methyl}-valine
(S)-N-valeryl-N-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]-methyl}-valine
(s)-2-(n-((2'-(1h-tetrazol-5-yl)biphenyl-4-yl)methyl)pentanamido)-3-methylbutanoic acid
137862-53-4
AC-4543
AC1L1U1M
AC1Q5QIK
Ambap137862-53-4
Aventis brand of valsartan
BIDD:GT0345
BRD-K45158365-001-02-3
BSPBio_003501
Bio-0796
C081489
C24H29N5O3
CEPA brand of valsartan
CGP 48933
CGP-48933
CHEBI:9927
CHEMBL1069
CID60846
CPD000466318
D00400
DB00177
Diovan
Diovan (TN)
Diovan, Valsartan
Esteve brand of valsartan
HMS1922L21
HMS2051L12
HMS2093K22
HSDB 7519
KBio2_002287
KBio2_004855
KBio2_007423
KBio3_003006
KBioGR_001078
KBioSS_002289
Kalpress
 
L-Valine, N-(1-oxopentyl)-N-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]- (9CI)
LS-161334
Lacer brand of valsartan
MLS000759423
MLS001424088
Miten
MolPort-002-507-854
MolPort-003-666-608
N-(1-oxopentyl)-N-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]-L-valine
N-(P-(O-1H-Tetrazol-5-ylphenyl)benzyl)-N-valeryl-L-valine
N-(p-(o-1H-Tetrazol-5-ylphenyl)benzyl)-N-valeryl-L-valine
N-Pentanoyl-N-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-L-valine
N-pentanoyl-N-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-L-valine
N-pentanoyl-N-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-L-valine
N-valeryl-N-((2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl)valine
Nisis
Nisis||
Novartis brand of valsartan
Provas
S1894_Selleck
SAM001246581
SMR000466318
SPBio_001260
SPECTRUM1505209
Sanol brand of valsartan
Schwarz brand of valsartan
Spectrum2_001120
Spectrum3_001831
Spectrum4_000749
Spectrum5_001582
Spectrum_001796
TL8000869
Tareg
UNII-80M03YXJ7I
Vals
Valsarran
Valsartan
Valsartan (JAN/USAN/INN)
Valsartan [USAN:INN]
valsartan
walsartan
|Tareg
4Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 21804
5Liver ExtractsPhase 23572
6Protease InhibitorsPhase 24558
7
Angiotensin IIPhase 2103368521-88-0, 11128-99-7172198, 65143
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
8Hypolipidemic AgentsPhase 22228
9HIV Protease InhibitorsPhase 24558
10Angiotensin-Converting Enzyme InhibitorsPhase 2634
11AntimetabolitesPhase 29454
12AngiotensinogenPhase 21032
13Anticholesteremic AgentsPhase 21732
14Antihypertensive AgentsPhase 23618
15GentamicinsPhase 1123
16Anti-Bacterial AgentsPhase 19140
17Anti-Infective AgentsPhase 117220

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effects of an Intensified Treatment With ACE-I,ATA II and Statins in Alport SyndromeCompletedNCT00309257Phase 2
2Gentamicin Treatment of Muscular DystrophyCompletedNCT00005574Phase 1

Search NIH Clinical Center for Deafness, X-Linked 2

Genetic Tests for Deafness, X-Linked 2

About this section

Anatomical Context for Deafness, X-Linked 2

About this section

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

33
Bone, Liver

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

About this section

Publications for Deafness, X-Linked 2

About this section

Variations for Deafness, X-Linked 2

About this section

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

67
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 16)
id Gene Variation Type Significance SNP ID Assembly Location
1POU3F4POU3F4, ASP215TERundetermined variantPathogenic
2POU3F4NM_000307.4(POU3F4): c.604A> T (p.Lys202Ter)single nucleotide variantPathogenicrs104894920GRCh37Chr X, 82763936: 82763936
3POU3F4NM_000307.4(POU3F4): c.950T> G (p.Leu317Trp)single nucleotide variantPathogenicrs104894921GRCh37Chr X, 82764282: 82764282
4POU3F4NM_000307.4(POU3F4): c.1000A> G (p.Lys334Glu)single nucleotide variantPathogenicrs104894922GRCh37Chr X, 82764332: 82764332
5POU3F4NM_000307.4(POU3F4): c.862_865delAGTG (p.Val289Argfs)deletionPathogenicrs730882189GRCh37Chr X, 82764194: 82764197
6POU3F4NM_000307.4(POU3F4): c.935C> T (p.Ala312Val)single nucleotide variantPathogenicrs387906502GRCh37Chr X, 82764267: 82764267
7POU3F4NM_000307.4(POU3F4): c.990A> T (p.Arg330Ser)single nucleotide variantPathogenicrs104894923GRCh37Chr X, 82764322: 82764322
8POU3F4NM_000307.4(POU3F4): c.967C> G (p.Arg323Gly)single nucleotide variantPathogenicrs104894924GRCh37Chr X, 82764299: 82764299
9POU3F4NM_000307.4(POU3F4): c.896delA (p.Lys299Serfs)deletionPathogenicrs267606974GRCh37Chr X, 82764228: 82764228
10POU3F4NM_000307.4(POU3F4): c.1086_*3delACTGdeletionLikely pathogenicrs727503377GRCh38Chr X, 83509410: 83509413
11POU3F4NM_000307.4(POU3F4): c.950dupT (p.Leu317Phefs)duplicationPathogenicrs398122516GRCh37Chr X, 82764282: 82764282
12POU3F4NM_000307.4(POU3F4): c.1060delA (p.Thr354Glnfs)deletionPathogenicrs398122517GRCh37Chr X, 82764392: 82764392
13POU3F4NM_000307.4(POU3F4): c.341G> A (p.Trp114Ter)single nucleotide variantLikely pathogenicrs111033343GRCh37Chr X, 82763673: 82763673
14POU3F4NM_000307.4(POU3F4): c.499C> T (p.Arg167Ter)single nucleotide variantPathogenicrs111033345GRCh37Chr X, 82763831: 82763831
15POU3F4NM_000307.4(POU3F4): c.695T> C (p.Ile232Thr)single nucleotide variantLikely pathogenicrs397516335GRCh37Chr X, 82764027: 82764027
16POU3F4NM_000307.4(POU3F4): c.853_854delAT (p.Ile285Argfs)deletionPathogenicrs397516336GRCh37Chr X, 82764185: 82764186

Expression for genes affiliated with Deafness, X-Linked 2

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

Pathways for genes affiliated with Deafness, X-Linked 2

About this section

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

About this section

Sources for Deafness, X-Linked 2

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet