MCID: MCH014

Machado-Joseph Disease Type 2 malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Aliases & Classifications for Machado-Joseph Disease Type 2

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Sources:
51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Machado-Joseph Disease Type 2:

Name: Machado-Joseph Disease Type 2 51
 
Thomas Type Sca3 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
machado-joseph disease type 2:
Inheritance: Autosomal dominant; Age of onset: Adult


External Ids:

Orphanet51 276241
ICD10 via Orphanet28 G11.8
UMLS via Orphanet66 C0751669

Summaries for Machado-Joseph Disease Type 2

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MalaCards based summary: Machado-Joseph Disease Type 2, is also known as thomas type sca3 An important gene associated with Machado-Joseph Disease Type 2 is ATXN3 (Ataxin 3).

Related Diseases for Machado-Joseph Disease Type 2

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Diseases in the Machado-Joseph Disease family:

Machado-Joseph Disease Type 1 Machado-Joseph Disease Type 3
machado-joseph disease type 2

Symptoms for Machado-Joseph Disease Type 2

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Drugs & Therapeutics for Machado-Joseph Disease Type 2

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Drugs for Machado-Joseph Disease Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LithiumapprovedPhase 2, Phase 32067439-93-228486
Synonyms:
159577-72-7
201049_ALDRICH
207241_ALDRICH
207241_FLUKA
220914_ALDRICH
248827_ALDRICH
265969_ALDRICH
265977_ALDRICH
265985_ALDRICH
265993_ALDRICH
266000_ALDRICH
278327_ALDRICH
320080_ALDRICH
340421_ALDRICH
3Li
444456_ALDRICH
499811_ALDRICH
62500_FLUKA
64975-42-4
7439-93-2
7580-67-8
AB1003835
AC1MHL68
C15473
CHEBI:30145
CID3028194
D008094
D08133
EINECS 231-102-5
EINECS 231-484-3
Eskalith
HSD690000
HSDB 549
HSDB 647
HSDB 6900
Hydrure de lithium [French]
LITHIUM
LITHIUM HYDRIDE
 
LITHIUM HYDRIDE, 98.6%
LITHIUM ion
LS-88055
LS-88066
LTBB002851
Li
Li(+)
Li(+) cation
Li(+) ion
Lithium
Lithium Carbonate
Lithium [UN1415] [Dangerous when wet]
Lithium [UN1415] [Dangerous when wet]
Lithium atom
Lithium atomic absorption standard solution
Lithium carbonate
Lithium cation
Lithium compounds
Lithium element
Lithium hydride (LiH)
Lithium hydride [UN1414] [Dangerous when wet]
Lithium hydride [UN1414] [Dangerous when wet]
Lithium hydride, fused solid [UN2805] [Dangerous when wet]
Lithium hydride, fused solid [UN2805] [Dangerous when wet]
Lithium monohydride
Lithium, elemental
Lithium, ion
Lithium, ion (li1+)
Lithium, metallic
Lithium-6Li
LithoTab
Lithobid
MolPort-003-926-239
MolPort-003-927-072
Normothymin-E
Normothymin-E (TN)
UN1414
UN1415
UN2805
litio
2Lithium CarbonatePhase 2, Phase 3206
3
Vareniclineapproved, investigationalPhase 2248249296-44-45310966
Synonyms:
249296-44-4
7,8,9,10-Tetrahydro-6,10-methano-6H-pyrazino(2,3-h)(3)benzazepine
7,8,9,10-tetrahydro-6h-6,10-methanoazepino[4,5-g]quinoxaline
AC1L55H0
AC1Q4W6H
AKOS005145561
AR-1H2911
CHEBI:430452
CHEMBL1396
CID170361
CP 526555
 
CP-526,555
Champix
Chantix
D08669
HSDB 7591
I14-1963
LS-187375
UNII-W6HS99O8ZO
Varenicline
Varenicline (INN)
Varenicline tartrate
varenicline
4Nicotinic AgonistsPhase 2677
5
Dopamineapproved281462-31-7, 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
6
Dalfampridineapproved47504-24-51727
Synonyms:
.gamma.-Aminopyridine
275875_ALDRICH
36687_FLUKA
36687_RIEDEL
4 AP
4 Aminopyridine
4 Aminopyridine Sustained Release
4-AP
4-Aminopyridine
4-Aminopyridine 10
4-Aminopyridine Sustained Release
4-Pyridinamine
4-Pyridylamine
4-aminopyridine
5-22-09-00106 (Beilstein Handbook Reference)
504-24-5
A 0152
A0414
A78403_ALDRICH
AB1004971
AC-907/25014071
AC1L1C3R
AC1Q52BM
AI3-52547
AKOS000119896
Amaya
Amino-4 pyridine
Amino-4-Pyridine
Ampydin
Ampyra
Avitrol
Avitrol 200
BB_SC-6974
BRN 0105782
BSPBio_001562
Bio1_000353
Bio1_000842
Bio1_001331
Bio2_000282
Bio2_000762
C13728
C5H6N2
CHEBI:34385
CHEMBL284348
CID1727
Caswell No. 038
Compound 1861
D015761
D04127
Dalfampridine
DivK1c_000572
EINECS 207-987-9
EL-970
EPA Pesticide Chemical Code 069201
EU-0100032
FT-0083754
Fampridina
Fampridine
Fampridine (USAN/INN)
Fampridine SR
Fampridine [USAN:INN]
Fampridine-PR
Fampridine-SR
Fampridinum
Fampyra
HC150041
HMS1361O04
HMS1791O04
HMS1921H15
HMS1989O04
HMS2092F05
HMS501M14
HSDB 6037
IDI1_000572
IDI1_034032
InChI=1/C5H6N2/c6-5-1-3-7-4-2-5/h1-4H,(H2,6,7
 
KBio1_000572
KBio2_000282
KBio2_000635
KBio2_002850
KBio2_003203
KBio2_005418
KBio2_005771
KBio3_000563
KBio3_000564
KBio3_001888
KBioGR_000282
KBioGR_001505
KBioSS_000282
KBioSS_000635
LS-130202
Lopac-A-0152
Lopac0_000032
MLS000069400
Mi-W-3
MolPort-000-146-022
N07XX07
NCGC00015009-01
NCGC00015009-03
NCGC00015009-12
NCGC00024890-01
NCGC00024890-02
NCGC00024890-03
NCGC00024890-04
NCGC00024890-05
NCGC00024890-06
NCGC00024890-07
NCGC00024890-08
NCGC00024890-09
NCGC00024890-10
NINDS_000572
NSC 15041
NSC15041
Neurelan
Neurelan (TN)
P-Aminopyridine
PYRIDINE,4-AMINO
Philips 1861
Phillips 1861
Pimadin (free base)
Prc 1237
Pymadin
Pymadine
RCRA waste no. P008
SDCCGMLS-0066228.P001
SMR000058211
SPBio_001486
SPECTRUM1501130
STK298717
Spectrum2_001413
Spectrum3_000914
Spectrum4_001013
Spectrum5_001501
Spectrum_000155
Sustained Release, 4-Aminopyridine
TL8003344
Tocris-0940
UNII-BH3B64OKL9
UPCMLD-DP125
UPCMLD-DP125:001
VMI 10-3
VMI 103
VMI-10-3
VMI-103
VMI103
WLN: T6NJ DZ
[J.Pharmacol.Exp.Ther. 275:864 (1995)]
gamma-Aminopyridine
nchem.892-comp4
p-Aminopyridine
p-Aminopyridine [UN2671] [Poison]
p-Aminopyridine [UN2671] [Poison]
pyridin-4-amine
pyridin-4-ylamine
7Dopamine Agonists476

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3CompletedNCT01096082Phase 2, Phase 3
2Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3CompletedNCT00992771Phase 2
3The Influence of Deep TMS on Cerebellar Signs in Patients With Machado Joseph DiseaseRecruitingNCT02039206Phase 2
4Pilot Study of Safety and Efficacy of Sodium Phenylbutyrate in Spinocerebellar Ataxia Type 3WithdrawnNCT01096095Phase 2
5Biomarkers in Autosomal Dominant Cerebellar AtaxiaCompletedNCT01470729
6Dalfampridine and Gait in Spinocerebellar AtaxiasCompletedNCT01811706
7Parkinsonism in Spinocerebellar Ataxia Type 6CompletedNCT01934998
8Measuring Neurological Impairment and Functional Visual Assessment In Spinocerebellar AtaxiasCompletedNCT00654251
9Natural History Study of and Genetic Modifiers in Spinocerebellar AtaxiasRecruitingNCT01060371
10The EUROSCA Natural History StudyRecruitingNCT02440763
11RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7Active, not recruitingNCT01037777

Search NIH Clinical Center for Machado-Joseph Disease Type 2

Genetic Tests for Machado-Joseph Disease Type 2

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Anatomical Context for Machado-Joseph Disease Type 2

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Animal Models for Machado-Joseph Disease Type 2 or affiliated genes

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Publications for Machado-Joseph Disease Type 2

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Variations for Machado-Joseph Disease Type 2

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Expression for genes affiliated with Machado-Joseph Disease Type 2

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Search GEO for disease gene expression data for Machado-Joseph Disease Type 2.

Pathways for genes affiliated with Machado-Joseph Disease Type 2

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GO Terms for genes affiliated with Machado-Joseph Disease Type 2

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Sources for Machado-Joseph Disease Type 2

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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