MCID: DYS169
MIFTS: 31

Dystonia-12 malady

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

Aliases & Classifications for Dystonia-12

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Aliases & Descriptions for Dystonia-12:

Name: Dystonia-12 49 11 67
Dystonia 12 67 24 65
Rapid-Onset Dystonia-Parkinsonism 67
 
Dyt12 67
Rdp 67

Characteristics:

HPO:

61
dystonia-12:
Onset and clinical course: young adult onset, incomplete penetrance
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 128235
MedGen34 C1868681
MeSH36 D004421
UMLS65 C1868681

Summaries for Dystonia-12

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UniProtKB/Swiss-Prot:67 Dystonia 12: An autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability.

MalaCards based summary: Dystonia-12, also known as dystonia 12, is related to generalized dystonia and alternating hemiplegia of childhood 2, and has symptoms including unsteady gait, drooling and mutism. An important gene associated with Dystonia-12 is ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3). Affiliated tissues include brain.

OMIM:49 Dystonia-12, also known as rapid-onset dystonia-parkinsonism, is an autosomal dominant disorder characterized by abrupt... (128235) more...

Related Diseases for Dystonia-12

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Diseases in the Dystonia family:

Dystonia 9 Dystonia 21
Dystonia 16 Dystonia 27
Dystonia, Juvenile-Onset Dystonia 23
Dystonia 24 Dystonia 25
dystonia-12 Dystonia 1
Dystonia 13 Dystonia 17
Dystonia 4 Dystonia 6
Dystonia 7

Diseases related to Dystonia-12 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1generalized dystonia11.3
2alternating hemiplegia of childhood 29.5ATP1A3, NELFE
3aneurysm, intracranial berry, 29.4ATP1A3, NELFE
4capos syndrome9.3ATP1A3, NELFE

Symptoms for Dystonia-12

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Symptoms by clinical synopsis from OMIM:

128235

Clinical features from OMIM:

128235

HPO human phenotypes related to Dystonia-12:

(show all 13)
id Description Frequency HPO Source Accession
1 unsteady gait HP:0002317
2 drooling HP:0002307
3 mutism HP:0002300
4 postural instability HP:0002172
5 bradykinesia HP:0002067
6 dysphagia HP:0002015
7 parkinsonism HP:0001300
8 dysarthria HP:0001260
9 anxiety HP:0000739
10 depression HP:0000716
11 emotional lability HP:0000712
12 torticollis HP:0000473
13 hypomimic face HP:0000338

UMLS symptoms related to Dystonia-12:


bradykinesia, torticollis, drooling

Drugs & Therapeutics for Dystonia-12

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Drugs for Dystonia-12 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 57)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Propranololapproved, investigationalPhase 4202525-66-64946
Synonyms:
(+-)-Propranolol
(1)-1-(Isopropylamino)-3-(naphthyloxy)propan-2-ol
(R)-(+)-propranolol
(S)-(-)-PROPRANOLOL
1-((1-Methylethyl)amino)-3-(1-naphthalenyloxy)-2-propanol
1-(1-Naphthyloxy)-2-hydroxy-3-(isopropylamino)propane
1-(Isopropylamino)-3-(1-naphthoxy)-propan-2-ol
1-(Isopropylamino)-3-(1-naphthyloxy)-2-propanol
1-(isopropylamino)-3-(1-naphthyloxy)propan-2-ol
1-(naphthalen-1-yloxy)-3-(propan-2-ylamino)propan-2-ol
1-Isopropylamino-3-(1-naphthyloxy)-2-propanol
1-[(1-methylethyl)amino]-3-(naphthalen-1-yloxy)propan-2-ol
1-naphthalen-1-yloxy-3-(propan-2-ylamino)propan-2-ol
13013-17-7
2-Propanol, 1-((1-methylethyl)amino)-3-(1-naphthalenyloxy)- (9CI)
2-Propanol, 1-((1-methylethyl)amino)-3-(1-naphthalenyloxy)-, (+-)- (9CI)
3-(naphthalen-1-yloxy)-1-(propan-2-ylamino)propan-2-ol
4199-09-1
4199-10-4
525-66-6
AB00053537
AC1L1JA4
AC1Q1QBV
AC1Q1QC0
AKOS000588816
AY 64043
AY-20694
Anaprilin
Anapriline
Angilol
Apsolol
Avlocardyl
BPBio1_001040
BRD-A10070317-003-06-9
BSPBio_000944
BSPBio_002682
Bedranol
Beprane
Berkolol
Beta Neg
Beta-Neg
Beta-Propranolol
Beta-Tablinen
Beta-Timelets
Betachron
Betadren
Betalong
Bio-0732
Bio1_000367
Bio1_000856
Bio1_001345
C07407
C16H21NO2
CBDivE_006180
CCRIS 3082
CHEBI:8499
CHEMBL27
CID4946
Cardinol
Caridolol
Corpendol
D,L-Propranolol
D08443
DB00571
DL-Propranolol hydrochloride
Deralin
DivK1c_000023
Dl-Propranolol Hydrochloride
Dociton
Duranol
EINECS 208-378-0
EINECS 235-867-6
Efektolol
Elbrol
Etalong
Euprovasin
Frekven
HMS2090L21
Hemangeol
Herzbase
ICI 45520
IDI1_000023
INDERIDE-40/25
INDERIDE-80/25
Ikopal
Inderal
Inderal LA
Inderal La
Inderal hydrochloride
Inderalici
Inderex
Inderide
Inderol
Indobloc
 
Innopran XL
Innopran Xl
Intermigran
KBio1_000023
KBio2_002515
KBio2_005083
KBio2_007651
KBio3_001766
KBio3_001902
KBio3_002993
KBioGR_001347
KBioGR_001684
KBioGR_002515
KBioSS_002523
Kemi
Kemi S
L000679
LS-122410
LS-184129
Lopac0_000896
Migrastat
MolPort-001-794-623
NCGC00015798-07
NCGC00024690-02
NCGC00024690-03
NINDS_000023
NSC91523
Naprilin
Obsidan
Obzidan
Oposim
Oprea1_304193
PDSP1_000767
PDSP1_001607
PDSP1_001608
PDSP2_000755
PDSP2_001591
PDSP2_001592
Prano-Puren
Pranolol
Prestwick0_000952
Prestwick1_000952
Prestwick2_000952
Prestwick3_000952
Pronovan
Propanalol
Propanix
Propanolol
Propanolol [INN-Spanish]
Prophylux
Propranalol
Propranolol
Propranolol (INN)
Propranolol (TN)
Propranolol Hcl
Propranolol Hcl Intensol
Propranolol Hydrochloride
Propranolol [INN:BAN]
Propranololo
Propranololo [DCIT]
Propranololum
Propranololum [INN-Latin]
Propranur
Proprasylyt
Pylapron
R,S-Propranolol Hydrochloride
Racemic propranolol
Rapynogen
Reducor
Reducor Line
Reducor line
SPBio_001361
SPBio_001658
SPBio_003093
STK735510
Sagittol
Sawatal
Servanolol
Sloprolol
Spectrum2_001301
Spectrum2_001699
Spectrum3_000883
Spectrum3_001071
Spectrum4_000974
Spectrum4_001222
Spectrum5_000751
Sumial
Tesnol
UNII-9Y8NXQ24VQ
b-Propranolol
beta-Propranolol
cMAP_000071
etalong
propranolol
propranololo
β-Propranolol
2
AcetylcholineexperimentalPhase 4, Phase 3, Phase 2, Phase 168951-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
Miochol E
O-Acetylcholine
acetylcholine chloride
3Adrenergic AntagonistsPhase 41253
4Adrenergic AgentsPhase 44204
5RimabotulinumtoxinBPhase 4, Phase 213
6Anti-Arrhythmia AgentsPhase 42371
7Antihypertensive AgentsPhase 43618
8AbobotulinumtoxinAPhase 4, Phase 3, Phase 2, Phase 1588
9Vasodilator AgentsPhase 42926
10Pharmaceutical SolutionsPhase 4, Phase 27004
11Adrenergic beta-AntagonistsPhase 4979
12Cholinergic AgentsPhase 4, Phase 3, Phase 2, Phase 13243
13Botulinum Toxins, Type APhase 4, Phase 3, Phase 2, Phase 1588
14Peripheral Nervous System AgentsPhase 4, Phase 3, Phase 2, Phase 118510
15Botulinum ToxinsPhase 4, Phase 3, Phase 2, Phase 1616
16Neuromuscular AgentsPhase 4, Phase 3, Phase 2, Phase 1922
17IncobotulinumtoxinAPhase 4, Phase 3, Phase 2, Phase 1599
18Neurotransmitter AgentsPhase 4, Phase 3, Phase 2, Phase 114795
19OnabotulinumtoxinAPhase 4, Phase 3, Phase 2, Phase 1588
20Omega 3 Fatty AcidNutraceuticalPhase 4912
21
DopamineapprovedPhase 2308462-31-7, 51-61-6681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine Hcl
Dopamine Hydrochloride
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
 
KBio1_000780
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
22
Risperidoneapproved, investigationalPhase 2477106266-06-25073
Synonyms:
106266-06-2
3-(2-(4-(6-Fluoro-1,2-benzisoxazol-3-yl)piperidino)ethyl)-6,7,8,9-tetrahydro-2-methyl-4H-pyrido(1,2-a)pyrimidin-4-one
3-(2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl)-2-methyl-6,7,8,9-tetrahydro-pyrido[
3-(2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl)-2-methyl-6,7,8,9-tetrahydropyrido[1,
3-[2-[-4-(6-fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-Fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido [1,2-a] pyrimidin-4-one
3-[2-[4-(6-Fluoro-1,2-benzisoxazol-3-yl)piperi-dino]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]-pyrimidin-4-one
3-[2-[4-(6-fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-fluoro-1,2-benzoxazol-3-yl)piperidin-1-yl]ethyl]-2-methyl-6,7,8,9-tetrahydropyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl]-2-methyl-6,7,8,9-tetrahydropyrido[1,
3-{2-[4-(6-Fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl}-2-methyl-6,7,8,9-tetrahydropyrido[1,2-a]pyrimidin-4-one
3-{2-[4-(6-fluoro-1,2-benzisoxazol-3-yl)piperidin-1-yl]ethyl}-2-methyl-6,7,8,9-tetrahydro-4H-pyrido[1,2-a]pyrimidin-4-one
3-{2-[4-(6-fluoro-1,2-benzoxazol-3-yl)piperidin-1-yl]ethyl}-2-methyl-6,7,8,9-tetrahydro-4H-pyrido[1,2-a]pyrimidin-4-one
AB00514010
AC-1306
AC1L1JJU
BIDD:GT0262
BRD-K53857191-001-04-5
BRN 4891881
Belivon
Bio-0092
Buspirone
C23H27FN4O2
CAS-106266-06-2
CHEBI:8871
CHEMBL85
CID5073
CPD000466323
Consta, Risperdal
D00426
D018967
DB00734
EU-0101074
HMS1571M19
HMS2051H07
HMS2089C22
HSDB 7580
I01-1156
Jsp000573
KS-1106
L000510
LS-134196
Lopac-R-118
MLS000759429
MLS001165758
MLS001424081
MolPort-002-885-858
NCGC00015883-01
 
NCGC00015883-02
NCGC00015883-03
NCGC00094352-01
NCGC00094352-02
NCGC00094352-03
NCGC00179257-01
Prestwick0_001029
Prestwick1_001029
R 62 766
R 64 766, Risperdal, Risperidone
R 64,766
R 64766
R-118
R-64,766
R-64-766
R-64766
R64,766
R64766
Rispen
Risperdal
Risperdal (TN)
Risperdal Consta
Risperdal M-Tab
Risperdal M-tab
Risperidal
Risperidal M-Tab
Risperidona
Risperidona [Spanish]
Risperidone
Risperidone (JAN/USAN/INN)
Risperidone (RIS)
Risperidone M-tab
Risperidone [USAN:BAN:INN]
Risperidone, placebo
Risperidonum
Risperidonum [Latin]
Risperin
Rispolept
Rispolin
S1615_Selleck
SAM001246595
SMR000466323
SPBio_003078
STK646402
Sequinan
Spiron
TL8000230
UNII-L6UH7ZF8HC
risperdone
risperidone
23
Pregabalinapproved, illicit, investigationalPhase 2340148553-50-85486971
Synonyms:
(3S)-3-(aminomethyl)-5-methylhexanoic acid
(R-)-3-isobutyl GABA
(S)-3-(Aminomethyl)-5-methylhexanoic acid
(S)-3-Isobutyl gaba
(S+)-3-isobutyl GABA
121GE001
148553-50-8
3-Isobutyl gaba
3-isobutyl GABA
AC-1158
AC1NUP03
AKOS005145504
C080245
C8H17NO2
CHEBI:236161
CHEMBL1059
CI 1008
CI-1008
CID5486971
 
D02716
DB00230
FT-0080911
HSDB 7530
LS-75191
Lyrica
Lyrica (TN)
MolPort-000-861-733
PD 144723
PD-144723
Pregabalin
Pregabalin (JAN/USAN/INN)
Pregabalin [USAN]
Pregablin
S-(+)-3-isobutylgaba
S1731_Selleck
SBB062901
TL8001062
TOS-BB-0910
UNII-55JG375S6M
24
Etanerceptapproved, investigationalPhase 1, Phase 2383185243-69-0
Synonyms:
185243-69-0
CD120b
D00742
Enbrel
Enbrel (TN)
Enbrel Sureclick
Etanercept
Etanercept (USAN/INN)
 
Etanercept (genetical recombination)
Etanercept (genetical recombination) (JAN)
TNF-R2
Tumor necrosis factor receptor 2
Tumor necrosis factor receptor superfamily member 1B precursor
Tumor necrosis factor receptor type II
etanercept
p75
p80 TNF-alpha receptor
25
PromethazineapprovedPhase 221260-87-74927
Synonyms:
(2-Dimethylamino-2-methyl)ethyl-N-dibenzoparathiazine
(2-dimethylamino-2-methyl)ethyl-N-dibenzoparathiazine
(Dimethylamino-2-propyl-10-phenothiazine hydrochloride
10-(2-(Dimethylamino)-2-methylethyl)phenothiazine
10-(2-(Dimethylamino)propyl)phenothiazine
10-(2-Dimethylaminopropyl)phenothiazine
10-[2-(Dimethylamino)propyl]phenothiazine
10-[2-(dimethylamino)Propyl]phenothiazine
10H-Phenothiazine-10-ethanamine, N,N,alpha-trimethyl- (9CI)
10H-Phenothiazine-10-ethanamine, N,N,alpha-trimethyl-, radical ion(1+)
3277 RP
3389 R.p.
38878-40-9
4-27-00-01253 (Beilstein Handbook Reference)
4182 R.p.
60-87-7
73745-50-3
A-91033
AB00053535
AC-15939
AC1L1J92
Antiallersin
Aprobit
Avomine
BPBio1_000744
BRN 0088554
BSPBio_000676
BSPBio_002777
C07404
CCRIS 7056
CHEBI:8461
CHEMBL643
CID4927
Camergan
D00494
DB01069
Dimapp
Dimethylamino-isopropyl-phenthiazin
Dimethylamino-isopropyl-phenthiazin [German]
Diphergan
Diprazin
Diprazine
Diprozin
DivK1c_000005
EINECS 200-489-2
Fargan
Fenazil
Fenetazina
Fenetazine
Genphen
HMS2089E08
HSDB 3173
Hiberna
Histargan
IDI1_000005
Iergigan
InChI=1/C17H20N2S/c1-13(18(2)3)12-19-14-8-4-6-10-16(14)20-17-11-7-5-9-15(17)19/h4-11,13H,12H2,1-3H3
Isophenergan
Isopromethazine
KBio1_000005
KBio2_001348
KBio2_003916
KBio2_006484
KBio3_001997
KBioGR_001697
KBioSS_001348
L000495
LS-264
Lercigan
Lergigan
Lilly 01516
Lilly 1516
Lopac0_000899
Metaryl
MolPort-001-783-684
N,N,alpha-Trimethyl-10H-phenothiazine-10-ethanamine
N,N,α-trimethyl-10H-phenothiazine-10-ethanamine
N,N-dimethyl-1-(10H-phenothiazin-10-yl)propan-2-amine
N,N-dimethyl-1-phenothiazin-10-ylpropan-2-amine
N,N-dimethyl-1-phenothiazin-10-ylpropan-2-amine hydrochloride
N-(2'-Dimethylamino-2'-methyl)ethylphenothiazine
N-(2'-dimethylamino-2'-Methyl)ethylphenothiazine
 
N-Dimethylamino-2-methylethyl thiodiphenylamine
NCGC00015817-10
NCGC00089735-02
NCGC00089735-03
NCI-C60673
NCI60_001878
NINDS_000005
NSC 30321
NSC30321
Oprea1_758749
PROMETHAZINE (SEE ALSO PROMETHAZINE HYDROCHLORIDE 58-33-3)
Pelpica
Phargan
Phenadoz
Phenargan
Phenergan
Phenerzine
Phenoject-50
Phensedyl
Pilothia
Pilpophen
Pipolphene
Prestwick0_000888
Prestwick1_000888
Prestwick2_000888
Prestwick3_000888
Pro-50
Proazaimine
Proazamine
Procit
Promacot
Promazinamide
Promergan
Promesan
Prometasin
Prometazin
Prometazina
Prometazina [INN-Spanish]
Prometazine
Prometh
Promethacon
Promethaine
Promethazin
Promethazine
Promethazine (JAN/INN)
Promethazine Hydrochloride
Promethazine [INN:BAN]
Promethazine hydrochloride
PromethazineHcl
Promethazinum
Promethazinum [INN-Latin]
Promethegan
Promethiazine
Promezathine
Prorex
Protazine
Prothazin
Prothazine
Provigan
Pyrethia
Pyrethiazine
RP 3277
Remsed
Romergan
Rumergan
SKF 1498
SPBio_000799
SPBio_002895
Sominex
Spectrum2_000840
Spectrum3_001019
Spectrum4_001149
Spectrum5_000977
Spectrum_000868
Tanidil
Thiergan
UNII-FF28EJQ494
Valergine
Vallergine
WLN: T C666 BN ISJ B1Y1&N1&1
WY 509
Zipan-25
promethazine
26
DiphenhydramineapprovedPhase 221258-73-1, 147-24-03100
Synonyms:
147-24-0
147-24-0 (HYDROCHLORIDE)
2-(Benzhydryloxy)-N,N-dimethylethylamine
2-(Benzhydryloxy)-N,N-dimethylethylamine, hydrochloride
2-(Diphenylmethoxy)-N,N-dimethylethylamine
2-(diphenylmethoxy)-N,N-dimethylethanamine
2-Diphenylmethoxy-N,N-dimethylethylamine
2-[(diphenylmethyl)oxy]-N,N-dimethylethanamine
2-benzhydryloxy-N,N-dimethylethanamine
2-benzhydryloxyethyl-N,N-dimethylammonium
2-diphenylmethoxy-N,N-demthylethanamine
2PM
58-73-1
88637-37-0 (citrate (1:1))
AB00053460
AC-13704
AC1L1F65
AKOS003658554
Aleryl
Alledryl
Aller-Med
Allerdryl
Allergan
Allergan B
Allergeval
Allergical
Allergina
Allergival
Allergy
Allergy Relief
Allermax Caplets
Allernix
Amidryl
Antistominum
Antitussive
Antomin
Automin
BENADRYL HCl
BIDD:GT0152
BPBio1_000275
BRD-K47278471-003-05-7
BRN 1914136
BSPBio_000249
BSPBio_002219
Bagodryl
Banophen
Banophen Caplets
Baramine
Beldin
Belix
Ben-allergin
Bena
Benachlor
Benadrin
Benadryl
Benadryl (hydrochloride)
Benadryl Allergy
Benapon
Bendylate
Benhydramin
Benodin
Benodine
Benylan
Benylin
Benzantin
Benzantine
Benzhydramine
Benzhydraminum
Benzhydril
Benzhydroamina
Benzhydryl
Betramin
CAS-147-24-0
CCRIS 1959
CHEBI:127629
CHEBI:4636
CHEMBL657
CID3100
CPD-10890
Childrens Allergy Relief
Childrens Wal-dryl Allergy
Compoz
D00300
DB01075
DB06975
DIPHENHYDRAMINE, ANTISTOMINUM, BENZHYDRAMINE
Dabylen
Debendrin
Dermistina
Dermodrin
Desentol
Diabenyl
Diabylen
Dibendrin
Dibenil
Dibondrin
Difedryl
Difenhidramina
Difenhidramina [INN-Spanish]
Difenhydramin
Difenhydramine
Difenidramina
Difenidramina [Italian]
Dihidral
Dimedrol
Dimedrol base
Dimedrolum
Dimedryl
Dimehydrinate
Dimethylamine benzhydryl ester
Diphamine
Diphantine
Diphen
Diphen Cough
Diphenhist
Diphenhist Captabs
 
Diphenhydramine
Diphenhydramine (JP15/INN)
Diphenhydramine Base
Diphenhydramine HCl
Diphenhydramine Hydrochloride
Diphenhydramine Salicylate
Diphenhydramine [INN:BAN:JAN]
Diphenhydraminum
Diphenhydraminum [INN-Latin]
Diphenylhydramin
Diphenylhydramine
DivK1c_000368
Dobacen
Dormarex 2
Dryistan
Drylistan
Dylamon
EINECS 200-396-7
Etanautine
FAR 90X2
Genahist
HMS2089E06
HSDB 3066
Help I Cant Sleep
Histaprin
Histaxin
Hyadrine
Hydramine
Hyrexin
I14-6749
IDI1_000368
Ibiodral
Insomnal
KBio1_000368
KBio2_001460
KBio2_004028
KBio2_006596
KBio3_001439
KBioGR_001099
KBioSS_001460
L000227
LS-68208
Lopac-D-3630
Lopac0_000377
MLS002222276
Medidryl
Mephadryl
MolPort-001-783-508
N,N-Dimethyl-2-(diphenylmethoxy)-ethylamine hydrochloride
N-(2-(Diphenylmethoxy)ethyl)-N,N-dimethylamine
N-(Benzhydryloksy-etylo)dwumetyloamina
N-(Benzhydryloksy-etylo)dwumetyloamina [Polish]
N-[2-(BENZHYDRYLOXY)ETHYL]-N,N-DIMETHYLAMINE
NCGC00015335-01
NCGC00015335-02
NCGC00015335-03
NCGC00015335-10
NCGC00024414-03
NCGC00024414-04
NCI60_002916
NCI60_022782
NINDS_000368
NSC665800
Nausen
Nervine Nighttime Sleep-Aid
Nightime Sleep Aid
North Antihistamine
Novamina
Nytol QuickCaps
Nytol Quickcaps
Nytol Quickgels
O-Benzhydryldimethylaminoethanol
O-benzhydryldimethylaminoethanol
Oprea1_254625
PM 255
Prestwick0_000065
Prestwick1_000065
Prestwick2_000065
Prestwick3_000065
Probedryl
Restamin
Restamin (TN)
Rigidil
S51
SMR001307259
SPBio_000961
SPBio_002170
STK103720
STOCK2S-94461
Siladryl
Silphen
Sleep-Eze D
Sleep-Eze D Extra Strength
Spectrum2_000961
Spectrum3_000400
Spectrum4_000520
Spectrum5_000915
Spectrum_000980
Syntedril
Syntodril
TL8003758
Twilite Caplets
UNII-8GTS82S83M
Unisom
Unisom Sleepgels Maximum Strength
Zzzquil
Zzzsleep
alpha-(2-Dimethylaminoethoxy)diphenylmethane
beta-Dimethylamino-aethyl-benzhydryl-aether
beta-Dimethylamino-aethyl-benzhydryl-aether [German]
beta-Dimethylaminoethanol diphenylmethyl ether
beta-Dimethylaminoethyl benzhydryl ether
beta-Dimethylaminoethylbenzhydrylether
beta-dimethylaminoethyl benzhydryl ether
diphenhydramine
nchembio747-comp18
β-dimethylaminoethyl benzhydryl ether
27
Vitamin Eapproved, nutraceuticalPhase 237159-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-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)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
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
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
28Dopamine AntagonistsPhase 2927
29
SerotoninPhase 2314750-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
30Serotonin AntagonistsPhase 21175
31Serotonin AgentsPhase 22668
32Tranquilizing AgentsPhase 23597
33AnticonvulsantsPhase 22249
34calcium channel blockersPhase 21743
35Dopamine AgentsPhase 23084
36AnalgesicsPhase 2, Phase 19358
37Anti-Anxiety AgentsPhase 21529
38Psychotropic DrugsPhase 25501
39Central Nervous System DepressantsPhase 210016
40Antipsychotic AgentsPhase 22130
41Calcium, DietaryPhase 24678
42TocotrienolsPhase 2372
43Tocotrienol, alphaPhase 25
44TocopherolsPhase 2376
45Gastrointestinal AgentsPhase 1, Phase 26401
46Immunologic FactorsPhase 1, Phase 218483
47Immunosuppressive AgentsPhase 1, Phase 210422
48Anti-Inflammatory AgentsPhase 1, Phase 28478
49AutoantibodiesPhase 1, Phase 2117
50Analgesics, Non-NarcoticPhase 1, Phase 25184

Interventional clinical trials:

(show all 38)
idNameStatusNCT IDPhase
1An Open Label Safety and Immunogenicity Study of MYOBLOC (Neurobloc; Botulinum Toxin Type B) Injectable Solution in Patients With Cervical DystoniaCompletedNCT00702754Phase 4
2Ethyl-Eicosapentaenoic Acid and Tardive DyskinesiaCompletedNCT00114595Phase 4
3Study of Arm and Putter Movement in Golfers With Golfer's CrampCompletedNCT02032758Phase 4
4Use of Interventional MRI for Implantation of Deep Brain Stimulator ElectrodesRecruitingNCT00792532Phase 4
5Neurotoxin and Physical TherapyRecruitingNCT02177617Phase 4
6OnabotulinumtoxinA in the Management of Psychogenic DystoniaRecruitingNCT02618889Phase 4
7The Use of Botox in Advanced Parkinson's Patients Experiencing PainActive, not recruitingNCT02472210Phase 4
8Open-label Extension Study of AbobotulinumtoxinA (Dysport®) for the Treatment of Cervical DystoniaCompletedNCT00288509Phase 3
9Evaluation of Botulinum Toxin Injection Efficacy in the Treatment of Head Essential TremorNot yet recruitingNCT02555982Phase 3
10Deep Brain Stimulation in Patients With DystoniaCompletedNCT00773604Phase 1, Phase 2
11Deep Brain Stimulation for Cervical DystoniaCompletedNCT00105430Phase 2
12Prospective, Randomized Controlled Trial on Perioperative Pregabalin to Reduce Late-onset CRPS After TKACompletedNCT00558753Phase 2
13An Inpatient Study Of The Efficacy, Safety, And Tolerability Of PF-02545920 In The Treatment Of Acute Exacerbation Of SchizophreniaCompletedNCT01175135Phase 2
14An Electrophysiological Study Of E2014 In Healthy Adult Male Japanese And Caucasian SubjectsCompletedNCT00280384Phase 2
15Pilot Trial of Botulinum Toxin and Occupational Therapy for Writer's CrampEnrolling by invitationNCT02015039Phase 1, Phase 2
16Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh SyndromeEnrolling by invitationNCT02352896Phase 2
17ASIS for Botox in Cervical DystoniaNot yet recruitingNCT02074293Phase 1, Phase 2
18ASIS for Enbrel in Plaque PsoriasisNot yet recruitingNCT02112097Phase 1, Phase 2
19Safety and Tolerability of Perampanel in Cervical DystoniaNot yet recruitingNCT02131467Phase 1, Phase 2
20Clinical and Kinematic Assessment for Determination of Botox® Injection Parameters in Cervical DystoniaNot yet recruitingNCT02662530Phase 2
21Keppra for Cervical DystoniaSuspendedNCT00760318Phase 2
22An Outpatient Study Of The Efficacy, Safety, And Tolerability Of PF-02545920 In The Adjunctive Treatment Of Sub-Optimally Controlled Symptoms of SchizophreniaTerminatedNCT01939548Phase 2
23Pilot Efficacy Study of T2000 in Myoclonus DystoniaTerminatedNCT00506012Phase 2
24Deep Brain Stimulation to Treat Cervical DystoniaCompletedNCT00132340Phase 1
25Chronic Effects of DBS in Parkinson's Disease and DystoniaRecruitingNCT01934296Phase 1
26MDs on Botox Utility (MOBILITY)CompletedNCT00535938
27Long-Term Motor Learning in Focal Hand DystoniaCompletedNCT00325091
28Factors Influencing Response to One BoNT-A Injection Cycle in Subjects Suffering From Idiopathic Cervical DystoniaCompletedNCT00833196
29Neurophysiological Markers in Patients With Craniofacial Dystonia and Their RelativesCompletedNCT00082615
30Brain Function in Focal DystoniaCompletedNCT00102999
31Validating a New Writer s Cramp ScaleCompletedNCT01579266
32Identification, Prevalence, and Lifespan of Rapid-Onset Dystonia-ParkinsonismRecruitingNCT00682513
33Functional Connectivity in Primary Focal DystoniaRecruitingNCT01761903
34Perceptual Decision Making Under Conditions of Visual UncertaintyRecruitingNCT01845883
35Exploring Hypertonia in Children With Cerebral PalsyRecruitingNCT01744158
36Functional Magnetic Resonance Imaging (fMRI) During Deep Brain Stimulation (DBS) to Treat Parkinson's DiseaseRecruitingNCT01809613
37A Prospective, Observational Study of Patients With Cervical Dystonia (Dystonie) Treated With OnabotulinumtoxinAActive, not recruitingNCT01655862
38Finding Genes With NGS Techniques in Whom Mutations Cause Neurological DiseasesNot yet recruitingNCT02340871

Search NIH Clinical Center for Dystonia-12

Genetic Tests for Dystonia-12

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Genetic tests related to Dystonia-12:

id Genetic test Affiliating Genes
1 Rapid-Onset Dystonia-Parkinsonism22 ATP1A3

Anatomical Context for Dystonia-12

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MalaCards organs/tissues related to Dystonia-12:

33
Brain

Animal Models for Dystonia-12 or affiliated genes

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Publications for Dystonia-12

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Variations for Dystonia-12

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UniProtKB/Swiss-Prot genetic disease variations for Dystonia-12:

67
id Symbol AA change Variation ID SNP ID
1ATP1A3p.Ile274ThrVAR_026735
2ATP1A3p.Glu277LysVAR_026736
3ATP1A3p.Thr613MetVAR_026737
4ATP1A3p.Ile758SerVAR_026738
5ATP1A3p.Phe780LeuVAR_026739
6ATP1A3p.Asp801TyrVAR_026740
7ATP1A3p.Asp923AsnVAR_068949

Clinvar genetic disease variations for Dystonia-12:

5 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1ATP1A3NM_152296.4(ATP1A3): c.1838C> T (p.Thr613Met)single nucleotide variantPathogenicrs80356534GRCh37Chr 19, 42482193: 42482193
2ATP1A3NM_152296.4(ATP1A3): c.821T> C (p.Ile274Thr)single nucleotide variantPathogenicrs80356532GRCh37Chr 19, 42489242: 42489242
3ATP1A3NM_152296.4(ATP1A3): c.829G> A (p.Glu277Lys)single nucleotide variantPathogenicrs80356533GRCh37Chr 19, 42489234: 42489234
4ATP1A3NM_152296.4(ATP1A3): c.2273T> G (p.Ile758Ser)single nucleotide variantPathogenicrs80356535GRCh37Chr 19, 42474685: 42474685
5ATP1A3NM_152296.4(ATP1A3): c.2338T> C (p.Phe780Leu)single nucleotide variantPathogenicrs80356536GRCh37Chr 19, 42474620: 42474620
6ATP1A3NM_152296.4(ATP1A3): c.2401G> T (p.Asp801Tyr)single nucleotide variantPathogenicrs80356537GRCh37Chr 19, 42474557: 42474557
7ATP1A3NM_152296.4(ATP1A3): c.2767G> A (p.Asp923Asn)single nucleotide variantPathogenicrs267606670GRCh37Chr 19, 42472989: 42472989
8ATP1A3NM_152296.4(ATP1A3): c.*196_*198dupCTCduplicationPathogenicrs587778772GRCh37Chr 19, 42470891: 42470893
9ATP1A3NM_152296.4(ATP1A3): c.979_981delCTG (p.Leu327del)deletionPathogenicrs397515578GRCh38Chr 19, 41984930: 41984932
10ATP1A3NM_152296.4(ATP1A3): c.2267G> A (p.Arg756His)single nucleotide variantPathogenicrs606231435GRCh38Chr 19, 41970539: 41970539
11ATP1A3NM_152296.4(ATP1A3): c.2600G> A (p.Gly867Asp)single nucleotide variantPathogenicrs606231442GRCh38Chr 19, 41969523: 41969523
12ATP1A3NM_152296.4(ATP1A3): c.3038_3040dupACT (p.Tyr1013_Ter1014insTyr)duplicationPathogenicrs397515382GRCh38Chr 19, 41966939: 41966941
13ATP1A3NM_152296.4(ATP1A3): c.1109C> A (p.Thr370Asn)single nucleotide variantPathogenicrs573535377GRCh38Chr 19, 41981991: 41981991
14ATP1A3NM_152296.4(ATP1A3): c.1144T> C (p.Trp382Arg)single nucleotide variantPathogenicrs606231448GRCh38Chr 19, 41981956: 41981956
15ATP1A3NM_152296.4(ATP1A3): c.1250T> C (p.Leu417Pro)single nucleotide variantPathogenicrs606231449GRCh38Chr 19, 41981774: 41981774
16ATP1A3NM_152296.4(ATP1A3): c.946G> A (p.Gly316Ser)single nucleotide variantPathogenicrs869320661GRCh38Chr 19, 41984965: 41984965
17ATP1A3NM_152296.4(ATP1A3): c.2051C> T (p.Ser684Phe)single nucleotide variantPathogenicrs397515577GRCh37Chr 19, 42480611: 42480611

Expression for genes affiliated with Dystonia-12

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Search GEO for disease gene expression data for Dystonia-12.

Pathways for genes affiliated with Dystonia-12

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GO Terms for genes affiliated with Dystonia-12

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Sources for Dystonia-12

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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