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

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Aliases & Descriptions for Deafness, X-Linked 2:

Name: Deafness, X-Linked 2 52 48 12
Nance Deafness 48 54 70
Dfnx2 48 54 70
X-Linked Mixed Conductive and Sensorineural Deafness 54 70
X-Linked Mixed Conductive and Neurosensory Deafness 54 70
Deafness 3 Conductive with Stapes Fixation 48 70
Deafness Mixed with Perilymphatic Gusher 48 70
Deafness Conductive with Stapes Fixation 48 70
Perilymphatic Gusher-Deafness Syndrome 48 70
Deafness, X-Linked, 2 70 27
Dfn3 48 70
Sensorineural Deafness, Profound, with or Without a Conductive Component, Associated with a Unique Developmental Abnormality of the Ear 48
 
Deafness X-Linked 2 with Non-Syndromic Mental Retardation 70
X-Linked Mixed Conductive and Sensorineural Hearing Loss 54
X-Linked Mixed Conductive and Neurosensory Hearing Loss 54
X-Linked Mixed Deafness with Perilymphatic Gusher 54
Deafness Mixed with Perilymph Gusher X-Linked 70
Dfn 3 Nonsyndromic Hearing Loss and Deafness 48
Progressive Hearing Loss Stapes Fixation 68
Conductive Deafness with Stapes Fixation 54
X-Linked Stapes Gusher Syndrome 54
X-Linked Deafness Type 2 54
Gusher Syndrome 48

Characteristics:

Orphanet epidemiological data:

54
nance deafness:
Inheritance: X-linked recessive; Age of onset: Infancy; Age of death: normal life expectancy

HPO:

64
deafness, x-linked 2:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM52 304400
Orphanet54 ORPHA383
ICD10 via Orphanet31 H90.8
MedGen37 C2677850
MeSH39 D046089

Summaries for Deafness, X-Linked 2

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OMIM:52 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 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.

UniProtKB/Swiss-Prot:70 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

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



Diseases related to deafness, x-linked 2

Symptoms & Phenotypes for Deafness, X-Linked 2

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Symptoms by clinical synopsis from OMIM:

304400

Clinical features from OMIM:

304400

Human phenotypes related to Deafness, X-Linked 2:

 64
id Description HPO Frequency HPO Source Accession
1 stapes ankylosis64 HP:0000381
2 conductive hearing impairment64 HP:0000405
3 progressive sensorineural hearing impairment64 HP:0000408
4 dilatated internal auditory canal64 HP:0004458

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 41)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
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 & Primycin
Fluvastatin (INN)
Fluvastatin [INN:BAN]
Fluvastatina
Fluvastatina [INN-Spanish]
Fluvastatine
Fluvastatine [INN-French]
Fluvastatinum
Fluvastatinum [INN-Latin]
HMS2089P06
I06-2297
LS-7404
Lescol
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
fluvastatina
fluvastatine
fluvastatinum
nchembio.301-comp9
nchembio790-comp18
2
Valsartanapproved, investigationalPhase 2295137862-53-460846
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)[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 (JAN/USAN/INN)
Valsartan [USAN:INN]
valsartan
walsartan
|Tareg
3
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 (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
4
alemtuzumabapproved, investigationalPhase 2310216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
5
Busulfanapproved, investigationalPhase 254555-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
6
Celecoxibapproved, investigationalPhase 2444169590-42-52662
Synonyms:
169590-42-5
184007-95-2
1oq5
4-(5-(4-Methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)benzenesulfonamide
4-[5-(4-METHYLPHENYL)-3-(TRIFLUOROMETHYL)-1H-PYRAZOL-1-YL]BENZENESULFONAMIDE
4-[5-(4-methylphenyl)-3-(trifluoromethyl)-1Hpyrazol-1-yl] benzenesulfonamide
4-[5-(4-methylphenyl)-3-(trifluoromethyl)pyrazol-1-yl]benzenesulfonamide
AC-4228
AC1L1E6K
AI-525
BIDD:GT0408
BRD-K02637541-001-02-4
BSPBio_003596
Benzenesulfonamide,4-(5-(4-methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)
C07589
C105934
C17H14F3N3O2S
CCRIS 8679
CEL
CEP-33222
CHEBI:41423
CHEMBL118
CID2662
CPD000550473
Celebra
Celebrex
Celebrex (TN)
Celebrex, Celebra, Celecoxib
Celecox
Celecoxi
Celecoxib
Celecoxib (JAN/USAN/INN)
Celecoxib (SC-58635)
Celecoxib [Old RN]
Celecoxib [USAN]
Celecoxibum
Celocoxib
Célécoxib
D00567
DB00482
DivK1c_000893
Eurocox
FT-0080064
HMS1922G14
HMS2089L18
HMS2093I07
HMS502M15
HSDB 7038
I01-1033
IDI1_000893
KBio1_000893
KBio2_000912
 
KBio2_002351
KBio2_003480
KBio2_004919
KBio2_006048
KBio2_007487
KBio3_002830
KBio3_003037
KBioGR_000723
KBioGR_002351
KBioSS_000912
KBioSS_002354
LS-31667
MLS001165684
MLS001195656
MLS001304708
Medicoxib
MolPort-002-885-815
NCGC00091455-01
NCGC00091455-02
NCGC00091455-03
NCGC00091455-04
NCI60_041049
NINDS_000893
NSC719627
Onsenal
P-(5-P-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
Pfizer brand of celecoxib
S1261_Selleck
SAM002589995
SC 58635
SC-58553, SC-58635
SC-58635
SC58635
SMR000550473
SPBio_001512
SPECTRUM1503678
Solexa
Spectrum2_001576
Spectrum3_001996
Spectrum4_000182
Spectrum5_001324
Spectrum_000432
TL8001323
TPI-336
UNM-0000305813
Xilebao
YM 177
YM-177
YM177
ZINC02570895
cMAP_000027
celecoxib
p-(5-p-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
7
ThiotepaapprovedPhase 222652-24-45453
Synonyms:
 
Thioplex
8
rituximabapprovedPhase 21692174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
9
FludarabineapprovedPhase 2115421679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ARAA
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-fluoro ARA-A
21679-14-1
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
Fludara, Fludarabine
 
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
10
Acetylcysteineapproved, investigationalPhase 2330616-91-112035
Synonyms:
(2R)-2-acetylamino-3-sulfanylpropanoic acid
(R)-2-acetylamino-3-mercaptopropanoic acid
(R)-mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
Fluprowit
 
L-Acetylcysteine
L-acetylcysteine
L-α-acetamido-β-mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetyl-L-(+)-cysteine
N-acetyl-L-cysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
11
Vitamin Eapproved, nutraceutical, vet_approvedPhase 241459-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-TRIMETHYLTRIDECYL]CHROMAN-6-OL
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'R)-α-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
5,7,8-trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
12HIV Protease InhibitorsPhase 25470
13
Angiotensin IIPhase 2117868521-88-0, 11128-99-765143, 172198
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
14Angiotensin II Type 1 Receptor BlockersPhase 21091
15Anticholesteremic AgentsPhase 22025
16Angiotensin-Converting Enzyme InhibitorsPhase 2724
17AngiotensinogenPhase 21177
18Angiotensin Receptor AntagonistsPhase 21191
19Antihypertensive AgentsPhase 24207
20Hypolipidemic AgentsPhase 22785
21Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 21998
22Lipid Regulating AgentsPhase 22766
23Liver ExtractsPhase 24067
24AntimetabolitesPhase 212054
25
protease inhibitorsPhase 25471
Synonyms:
 
protease inhibitors
26Thioctic AcidPhase 2118
27VitaminsPhase 25282
28TocopherolsPhase 2414
29Antimetabolites, AntineoplasticPhase 27361
30Alkylating AgentsPhase 24827
31TocotrienolsPhase 2410
32Antilymphocyte SerumPhase 2408
33Antineoplastic Agents, AlkylatingPhase 24603
34Immunosuppressive AgentsPhase 213086
35N-monoacetylcystinePhase 2330
36Alpha-lipoic AcidNutraceuticalPhase 2118
37TocotrienolNutraceuticalPhase 2410
38TocopherolNutraceuticalPhase 2414
39GentamicinsPhase 1140
40Anti-Bacterial AgentsPhase 111226
41Anti-Infective AgentsPhase 122062

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effects of an Intensified Treatment With ACE-I,ATA II and Statins in Alport SyndromeCompletedNCT00309257Phase 2
2MT2013-31: Allo HCT for Metabolic Disorders and Severe OsteopetrosisRecruitingNCT02171104Phase 2
3Gentamicin Treatment of Muscular DystrophyCompletedNCT00005574Phase 1
4Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

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 227

Anatomical Context for Deafness, X-Linked 2

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

36
Bone

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:

70
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 14)
id Gene Variation Type Significance SNP ID Assembly Location
1POU3F4POU3F4, ASP215TERundetermined variantPathogenic
2POU3F4NM_ 000307.4(POU3F4): c.604A> T (p.Lys202Ter)SNVPathogenicrs104894920GRCh37Chr X, 82763936: 82763936
3POU3F4NM_ 000307.4(POU3F4): c.950T> G (p.Leu317Trp)SNVPathogenicrs104894921GRCh37Chr X, 82764282: 82764282
4POU3F4NM_ 000307.4(POU3F4): c.1000A> G (p.Lys334Glu)SNVPathogenicrs104894922GRCh37Chr 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)SNVPathogenicrs387906502GRCh37Chr X, 82764267: 82764267
7POU3F4NM_ 000307.4(POU3F4): c.990A> T (p.Arg330Ser)SNVPathogenicrs104894923GRCh37Chr X, 82764322: 82764322
8POU3F4NM_ 000307.4(POU3F4): c.967C> G (p.Arg323Gly)SNVPathogenicrs104894924GRCh37Chr X, 82764299: 82764299
9POU3F4NM_ 000307.4(POU3F4): c.896delA (p.Lys299Serfs)deletionPathogenicrs267606974GRCh37Chr X, 82764227: 82764227
10POU3F4NM_ 000307.4(POU3F4): c.235C> T (p.Gln79Ter)SNVPathogenicrs878853242GRCh38Chr X, 83508559: 83508559
11POU3F4NM_ 000307.4(POU3F4): c.845G> T (p.Arg282Leu)SNVPathogenicrs1060499806GRCh38Chr X, 83509169: 83509169
12POU3F4NM_ 000307.4(POU3F4): c.950dupT (p.Leu317Phefs)duplicationPathogenicrs398122516GRCh37Chr X, 82764282: 82764282
13POU3F4NM_ 000307.4(POU3F4): c.1060delA (p.Thr354Glnfs)deletionPathogenicrs398122517GRCh38Chr X, 83509384: 83509384
14POU3F4NM_ 000307.4(POU3F4): c.877C> G (p.Leu293Val)SNVPathogenicrs780027419GRCh38Chr X, 83509201: 83509201

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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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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet