MCID: MCH002
MIFTS: 58

Machado-Joseph Disease malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Machado-Joseph Disease

About this section

Aliases & Descriptions for Machado-Joseph Disease:

Name: Machado-Joseph Disease 49 10 11 68 21 22 23 46 47 12 51 67 36 65
Mjd 10 21 45 22 23 51 67
Spinocerebellar Ataxia Type 3 10 68 21 22 23 51
Sca3 21 45 22 23 51 67
Spinocerebellar Ataxia 3 10 45 67
Azorean Disease 10 23 24
Azorean Ataxia 21 22 23
Nigrospinodentatal Degeneration 45 67
Azorean Neurologic Disease 45 67
Spinopontine Atrophy 45 65
 
Nigro-Spino-Dentatal Degeneration with Nuclear Ophthalmoplegia 51
Autosomal Dominant Striatonigral Degeneration 51
Azorean Disease of the Nervous System 51
Spinocerebellar Atrophy Type 3 45
Spinocerebellar Atrophy 67
Ataxia, Spinocerebellar 65
Machado Joseph Disease 45
Machado Disease 51
Sca 3 22

Characteristics:

Orphanet epidemiological data:

51
machado-joseph disease:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Portugal),1-9/100000 (Japan); Age of onset: Adolescent,Adult,Childhood; Age of death: adult

HPO:

61
machado-joseph disease:
Inheritance: genetic anticipation, autosomal dominant inheritance
Onset and clinical course: progressive


Classifications:



External Ids:

OMIM49 109150
Disease Ontology10 DOID:1440
NCIt42 C84830
SNOMED-CT59 91952008
Orphanet51 98757
ICD10 via Orphanet28 G11.8
MedGen34 C0024408
UMLS65 C0024408, C0520719

Summaries for Machado-Joseph Disease

About this section
NIH Rare Diseases:45 Spinocerebellar ataxia 3 is a rare movement disorder that is characterized by ataxia, clumsiness and weakness in the arms and legs, spasticity, a staggering lurching walk easily mistaken for drunkenness, difficulty with speech and swallowing, and involuntary eye movements sometimes accompanied by double vision, and bulging eyes. some patients have dystonia or symptoms similar to those of parkinson's disease. others have twitching of the face or tongue, neuropathy, or problems with urination and the autonomic nervous system. symptoms can begin any time between childhood and about 70 years of age. spinocerebellar ataxia 3 is a progressive disease, meaning that symptoms get worse with time. life expectancy ranges from the mid-thirties for those with severe forms of the disorder to a normal life expectancy for those with mild forms. spinocerebellar ataxia is inherited in an autosomal dominant pattern and is caused by a trinucleotide repeat expansion in the ataxin-3 gene (atxn3). last updated: 10/23/2014

MalaCards based summary: Machado-Joseph Disease, also known as mjd, is related to machado-joseph disease type 1 and machado-joseph disease type 3, and has symptoms including spasticity, ataxia and external ophthalmoplegia. An important gene associated with Machado-Joseph Disease is ATXN3 (Ataxin 3), and among its related pathways are Parkinsons Disease Pathway and Proteolysis_Putative ubiquitin pathway. Affiliated tissues include eye, tongue and spinal cord, and related mouse phenotypes are skeleton and homeostasis/metabolism.

Disease Ontology:10 An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has material basis in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.

Genetics Home Reference:23 Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle stiffness (spasticity), rigidity, tremors, bulging eyes, and double vision. People with this condition may experience sleep disorders such as restless leg syndrome or REM sleep behavior disorder. Restless leg syndrome is a condition characterized by numbness or tingling in the legs accompanied by an urge to move the legs to stop the sensations. REM sleep behavior disorder is a condition in which the muscles are active during the dream (REM) stage of sleep, so an affected person often acts out his or her dreams. These sleep disorders tend to leave affected individuals feeling tired during the day.

OMIM:49 Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive... (109150) more...

NINDS:46 Machado-Joseph disease (MJD), which is also called spinocerebellar ataxia type 3, is a rare hereditary ataxia (ataxia is a medical term meaning lack of muscle control). The disease is characterized by slowly progressive clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some individuals also have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes.

UniProtKB/Swiss-Prot:67 Spinocerebellar ataxia 3: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA3 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. The molecular defect in SCA3 is the a CAG repeat expansion in ATX3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.

Wikipedia:68 Machado–Joseph disease (MJD), also known as Machado–Joseph Azorean disease or Joseph\'s disease or... more...

GeneReviews summary for NBK1196

Related Diseases for Machado-Joseph Disease

About this section

Graphical network of the top 20 diseases related to Machado-Joseph Disease:



Diseases related to machado-joseph disease

Symptoms for Machado-Joseph Disease

About this section

Symptoms by clinical synopsis from OMIM:

109150

Clinical features from OMIM:

109150

HPO human phenotypes related to Machado-Joseph Disease:

(show all 35)
id Description Frequency HPO Source Accession
1 spasticity 62% HP:0001257
2 ataxia 57% HP:0001251
3 external ophthalmoplegia 34% HP:0000544
4 dysarthria 30% HP:0001260
5 dystonia 17% HP:0001332
6 gaze-evoked nystagmus 15% HP:0000640
7 fasciculations 12% HP:0002380
8 parkinsonism 3% HP:0001300
9 chronic pain HP:0012532
10 facial-lingual fasciculations HP:0007089
11 distal amyotrophy HP:0003693
12 babinski sign HP:0003487
13 absent achilles reflex HP:0003438
14 muscle cramps HP:0003394
15 urinary bladder sphincter dysfunction HP:0002839
16 spinocerebellar tract degeneration HP:0002503
17 impaired vibratory sensation HP:0002495
18 dysautonomia HP:0002459
19 dilated fourth ventricle HP:0002198
20 postural instability HP:0002172
21 gliosis HP:0002171
22 truncal ataxia HP:0002078
23 progressive cerebellar ataxia HP:0002073
24 limb ataxia HP:0002070
25 bradykinesia HP:0002067
26 rigidity HP:0002063
27 dysphagia HP:0002015
28 cerebellar atrophy HP:0001272
29 impaired horizontal smooth pursuit HP:0001151
30 dementia HP:0000726
31 diplopia HP:0000651
32 dysmetric saccades HP:0000641
33 supranuclear ophthalmoplegia HP:0000623
34 proptosis HP:0000520
35 ptosis HP:0000508

Drugs & Therapeutics for Machado-Joseph Disease

About this section

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

(show top 50)    (show all 130)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Estradiolapproved, investigationalPhase 4109450-28-25757, 53477783
Synonyms:
(+)-3,17b-Estradiol
(17b)-Estra-1,3,5(10)-triene-3,17-diol
(17beta)-Estra-1,3,5(10)-triene-3,17-diol
.alpha.-Estradiol
.alpha.-Oestradiol
.beta.-Estradiol
.beta.-Oestradiol
1,3,5[10]-Estratriene-3,17beta-diol 3-sulfate
1,3,5[10]-Estratriene-3,17beta-diol 3-sulphate
13b-Methyl-1,3,5(10)-gonatriene-3,17b-ol
17 beta-Estradiol
17-.BETA.-Estradiol
17-E
17-beta
17-beta-OH-estradiol
17-beta-estradiol
17.beta.-Estradiol
17.beta.-Oestradiol
17E
17b-Estradiol
17b-Oestradiol
17beta Oestradiol
17beta oestradiol
17beta-Estra-1,3,5(10)-triene-3,17-diol
17beta-Estradiol
17beta-Oestradiol
1jgl
1qkt
1qku
2d06
3,17-Epidihydroxyestratriene
3,17-beta-Estradiol
3,17-beta-Oestradiol
3,17.beta.-Estradiol
3,17b-Dihydroxyestra-1,3,5(10)-triene
3,17b-Estradiol
3,17beta-Estradiol
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulfate
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulphate
50-28-2
73459-61-7
873662-39-6
AC-10460
AC1L1L2K
Aerodiol
Agofollin
Alora
Altrad
Amnestrogen
Aquadiol
B-Estradiol
BEDOs
BIDD:ER0125
BIDD:PXR0065
BPBio1_000532
BSPBio_000482
BSPBio_001065
Bardiol
Benzhormovarine
Beta-estradiol
Bio-0812
Bio-E-Gel
Bio1_000403
Bio1_000892
Bio1_001381
Bio2_000363
Bio2_000843
C00951
C18H24O2
CCRIS 280
CHEBI:16469
CHEMBL135
CID5757
CMC_11154
CPD-352
CPD000059126
Climaderm
Climara
Climara (TN)
Climara Forte
Compudose
Compudose 200
Compudose 365
Corpagen
D-3,17beta-Estradiol
D-Estradiol
D-Oestradiol
D00105
DB00783
Depo-estradiol
Dermestril
Destradiol
Dihydro-Theelin
Dihydrofollicular hormone
Dihydrofolliculin
Dihydromenformon
Dihydrotheelin
Dihydroxyesterin
Dihydroxyestrin
Dihydroxyoestrin
Dimenformon
Diogyn
Diogynets
Divigel
Divigel (TN)
E 2
E 8875
E(sub 2)
E0025
E1024_SIGMA
E1132_SIGMA
E2257_SIGMA
E2758_SIGMA
E8875_SIGMA
EINECS 200-023-8
EU-0100503
Elestrin
Encore
Epiestriol 50
Esclim
Estra-1,3,5(10)-triene-3,17b-diol
Estrace
Estrace (TN)
Estraderm
Estraderm (TN)
Estraderm MX
Estraderm TTS
Estraderm TTS 100
Estraderm TTS 50
Estradiol
Estradiol Transdermal System
Estradiol Valerate
Estradiol [USAN:INN]
Estradiol acetate
Estradiol benzoate
Estradiol cypionate
Estradiol valerate
Estradiol-17 beta
Estradiol-17-beta
Estradiol-17.beta.
Estradiol-17beta
Estradiol-3,17beta
Estradiolo
Estradiolo [DCIT]
Estradiolum
Estradiolum [INN]
Estradot
Estraldine
Estrapak 50
Estrasorb
Estrasorb (TN)
Estreva
Estrifam
Estring
Estring (TN)
Estring Vaginal Ring
Estring vaginal ring
Estroclim
Estroclim 50
Estrodiolum
Estrofem 2
 
Estrofem Forte
Estrogel
Estrogel (TN)
Estrogel HBF
Estrovite
Evamist
Evorel
Extrasorb
Femanest
Femestral
Femestrol
Femogen
Fempatch
Femring
Femtrace
Femtran
Follicyclin
Gelestra
Ginedisc
Ginosedol
GynPolar
Gynergon
Gynestrel
Gynodiol
Gynoestryl
HMS1362E07
HMS1569I04
HMS1792E07
HMS1990E07
HMS2051C17
HMS2090E18
HSDB 3589
IDI1_002118
Innofem
Innofem (TN)
KBio2_000405
KBio2_002269
KBio2_002973
KBio2_004837
KBio2_005541
KBio2_007405
KBio3_000769
KBio3_000770
KBio3_002749
KBioGR_000405
KBioGR_002269
KBioSS_000405
KBioSS_002270
LMST02010001
LS-137
Lamdiol
Lio-Oid
Lopac0_000503
MLS000069494
MLS000758312
MLS001076331
Macrodiol
Macrol
Menest
Menorest
Menostar
Microdiol
Minivelle
MolPort-001-794-632
NCGC00091544-00
NCGC00091544-01
NCGC00091544-02
NCGC00091544-04
NCGC00091544-05
NCGC00091544-06
NCGC00091544-07
NCGC00091544-08
NCGC00091544-09
NCGC00091544-12
NCGC00179321-01
NCGC00179321-02
NSC-9895
NSC9895
Nordicol
Oesclim
Oestergon
Oestra-1,3,5(10)-triene-3,17b-diol
Oestradiol
Oestradiol Berco
Oestradiol R
Oestradiol-17-beta
Oestradiol-17.beta.
Oestradiol-17beta
Oestradiolum
Oestrogel
Oestroglandol
Oestrogynal
Ovahormon
Ovasterol
Ovastevol
Ovociclina
Ovocyclin
Ovocycline
Ovocylin
Perlatanol
Polyestradiol
Prestwick0_000441
Prestwick1_000441
Prestwick2_000441
Prestwick3_000441
Prestwick_207
Primofol
Profoliol
Profoliol B
Progynon
Progynon DH
Progynon-DH
S-21400
S1709_Selleck
SAM001247032
SK-Estrogens
SL-1100
SMP1_000121
SMR000059126
SPBio_002421
Sandrena 1
Sandrena Gel
Sisare Gel
Spectrum5_002055
Syndiol
Systen
Tradelia
Trial SAT
Trocosone
UNII-4TI98Z838E
VIVELLE-DOT
Vagifem
Vagifem (TN)
Vivelle
Vivelle (TN)
Vivelle Dot
Vivelle-dot
Zerella
Zesteem
Zesteen
Zumenon
[2,4,6,7-3H]-E2
[3H]-estradiol
[3H]]estradiol
b-Estradiol
beta-Estradiol
beta-Estradiol 3-sulfate
beta-Estradiol 3-sulphate
bmse000642
cMAP_000005
cis-Estradiol
cis-Oestradiol
component of Menrium
delta-Estradiol
delta-Oestradiol
estradiol
estradiol-17beta
nchembio.168-comp3
nchembio.76-comp2
nchembio775-comp2
nchembio794-comp6
nchembio860-comp1
progynon
2
ClonidineapprovedPhase 41894205-90-72803
Synonyms:
1H-Imidazol-2-amine, N-(2,6-dichlorophenyl)-4,5-dihydro- (9CI)
2,6-Dichloro-N-2-imidazolidinylidenebenzenamine
2,6-dichloro-N-(2-imidazolidinylidene)aniline
2,6-dichloro-N-2-imidazolidinylidenebenzenamide
2,6-dichloro-N-imidazolidin-2-ylideneaniline
2-((2,6-Dichlorophenyl)imino)imidazolidine
2-(2,6-Dichloroanilino)-1,3-diazacyclopentene-(2)
2-(2,6-Dichloroanilino)-2-imidazoline
2-(2,6-Dichlorophenylamino)-2-imidazoline
2-(2,6-Dichlorophenylimino)imidazolidine
2-Imidazoline, 2-(2,6-dichloroanilino)- (7CI,8CI)
2-[(2,6-Dichlorophenyl)imino]imidazoline
2-[(2,6-dichlorophenyl)imino]-2-imidazoline
4205-90-7
4205-91-8 (mono-hydrochloride)
57066-25-8
734571A
AB00514634
AC1L1EI5
AC1Q3K6V
AKOS001595470
Adesipress
BIDD:GT0547
BPBio1_000040
BRD-K98530306-001-02-1
BRD-K98530306-003-05-0
BSPBio_000036
BSPBio_001588
BSPBio_002055
Bio1_000470
Bio1_000959
Bio1_001448
Bio2_000308
Bio2_000788
C9H9Cl2N3
CAS-4205-91-8
CATAPRES-TTS-1
CATAPRES-TTS-2
CATAPRES-TTS-3
CCRIS 7787
CHEBI:3757
CHEBI:46632
CHEMBL134
CID2803
Catapres
Catapres- TTS
Catapres-TTS
Catapresan
Catapressan
Catarpres
Catarpres-TTS
Catarpres-TTS (TN)
Catarpresan
Chlofazoline
Chlornidinum
Clofenil
Clonidin
Clonidina
Clonidina [INN-Spanish]
Clonidine
Clonidine (JAN/USAN/INN)
Clonidine HCl
Clonidine Hydrochloride
Clonidine Transdermal System
Clonidine [USAN:BAN:INN]
Clonidinhydrochlorid
Clonidinum
Clonidinum [INN-Latin]
Clonistada
Clopheline
D00281
DB00575
DB07566
DivK1c_000774
 
Dixarit
Duraclon
Duraclont
EINECS 224-119-4
Gemiton
HMS1361P10
HMS1791P10
HMS1989P10
HMS2089G11
HSDB 3040
Hemiton
IDI1_000774
IDI1_034058
Ipotensium
Isoglaucon
KBio1_000774
KBio2_000308
KBio2_001821
KBio2_002876
KBio2_004389
KBio2_005444
KBio2_006957
KBio3_000615
KBio3_000616
KBio3_001275
KBioGR_000308
KBioGR_001572
KBioSS_000308
KBioSS_001821
Kapvay
Klofelin
Klofenil
L000193
LS-79606
Lopac-C-7897
Lopac0_000268
M 5041T
M-5041T
MolPort-001-779-668
MolPort-005-932-374
N-(2,6-Dichlorophenyl)-4,5-dihydro-1H-imidazol-2-amine
NCGC00015268-01
NCGC00015268-02
NCGC00015268-08
NCGC00024734-01
NCGC00024734-02
NCGC00024734-03
NCGC00024734-04
NCGC00024734-05
NCGC00179680-01
NINDS_000774
Nexiclon
Nexiclon Xr
Prestwick0_000248
Prestwick1_000248
Prestwick2_000248
Prestwick3_000248
SKF 34427
SPBio_001233
SPBio_002255
ST 155BS
ST-155-BS
ST-155BS
Spectrum2_001187
Spectrum3_000358
Spectrum4_000956
Spectrum5_000759
Spectrum_001341
T171
Tenso-Timelets
Tocris-0690
UNII-MN3L5RMN02
ZINC00896484
clonidine
nchembio.79-comp11
nchembio705-10
3Neurotransmitter AgentsPhase 4, Phase 2, Phase 314795
4HormonesPhase 4, Phase 311748
5Antihypertensive AgentsPhase 4, Phase 23618
6Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 4, Phase 39988
7Hormone AntagonistsPhase 4, Phase 310002
8insulinPhase 44278
9Insulin, Globin ZincPhase 44278
10Adrenergic AgentsPhase 44204
11Polyestradiol phosphatePhase 41095
12Peripheral Nervous System AgentsPhase 4, Phase 318510
13EstrogensPhase 42144
14MitogensPhase 41386
15Adrenergic alpha-AgonistsPhase 41300
16Estradiol valeratePhase 41094979-32-8
17Adrenergic AgonistsPhase 42331
18AnalgesicsPhase 49358
19Adrenergic alpha-2 Receptor AgonistsPhase 4790
20Estradiol 3-benzoatePhase 41094
21Estradiol 17 beta-cypionatePhase 41094
22Contraceptive AgentsPhase 41706
23arginineNutraceuticalPhase 4364
24
Riluzoleapproved, investigationalPhase 2, Phase 3591744-22-55070
Synonyms:
1744-22-5
2-Amino-6-(trifluoromethoxy)-benzothiazole
2-Amino-6-(trifluoromethoxy)benzothiazole
2-Amino-6-trifluoro- methoxybenzothiazole
2-amino-6-(trifluoromethoxy)-1,3-benzothiazole
2-amino-6-(trifluoromethoxy)benzo[d]thiazole
2-amino-6-(trifluoromethoxyl)benzothiazole
2-amino-6-trifluoromethoxybenzothiazole
6-(trifluoromethoxy)-1,3-benzothiazol-2-amine
6-(trifluoromethoxy)benzo[d]thiazol-2-amine
6-Trifluoromethoxy-benzothiazol-2-ylamine
6-trifluoromethoxybenzothiazole-2-yl-amine
AC-730
AC1L1JJL
AC1Q530H
AKOS000265071
ALBB-006046
Amino-2 trifluoromethoxy-6 benzothiazole
Amino-2 trifluoromethoxy-6 benzothiazole [French]
BB_SC-4839
BF-37
BIDD:GT0055
BPBio1_000037
BPBio1_000837
BRD-K21283037-001-02-5
BRD-K21283037-003-03-9
BSPBio_000033
Bio1_000416
Bio1_000905
Bio1_001394
Biomol-NT_000245
C07937
C8H5F3N2OS
CHEMBL744
CID5070
D00775
DB00740
EU-0101064
FT-0082997
HMS1773G08
HMS2089O19
HMS2094G07
I01-2084
LS-40688
 
Lopac-R-116
Lopac0_001064
MLS000069369
MolPort-000-151-262
NCGC00015882-01
NCGC00015882-02
NCGC00015882-03
NCGC00015882-07
NCGC00015882-11
NCGC00023141-02
NCGC00023141-04
NCGC00023141-05
NCGC00023141-06
PK-26124
PK-26124, RP-54274, Rilutek, Riluzole
Prestwick-03A08
Prestwick0_000167
Prestwick1_000167
Prestwick2_000167
Prestwick3_000167
R-116
R116_SIGMA
RP 54274
RP-54274
Rilutek
Rilutek (TN)
Riluzol
Riluzol [INN-Spanish]
Riluzole
Riluzole (JAN/USAN/INN)
Riluzole HCl
Riluzole Hydrochloride
Riluzole [USAN:INN]
Riluzolum
Riluzolum [INN-Latin]
S1614_Selleck
SMR000058231
SPBio_000599
SPBio_001954
STK503686
Spectrum2_000550
Tocris-0768
UNII-7LJ087RS6F
ZERO/001785
ZINC00006481
riluzole
25
Dexamethasoneapproved, investigationalPhase 3190950-02-25743
Synonyms:
(3H)-Dexamethasone
.delta.(sup 1)-9-.alpha.-Fluoro-16-.alpha.-methylcortisol
.gamma.corten
1-Dehydro-16.alpha.-methyl-9.alpha.-fluorohydrocortisone
1-Dehydro-16alpha -methyl-9alpha -fluorohydrocortisone
1-Dehydro-16alpha-methyl-9alpha-fluorohydrocortisone
1-Dehydro-16α-methyl-9α-fluorohydrocortisone
137098-19-2
16-alpha-Methyl-9-alpha-fluoro-1-dehydrocortisol
16-alpha-Methyl-9-alpha-fluoro-delta(sup 1)-hydrocortisone
16-alpha-Methyl-9-alpha-fluoro-delta1-hydrocortisone
16-alpha-Methyl-9-alpha-fluoroprednisolone
16.alpha.-Methyl-9.alpha.-fluoro-1-dehydrocortisol
16.alpha.-Methyl-9.alpha.-fluoroprednisolone
16alpha -Methyl-9alpha -fluoro-1-dehydrocortisol
16alpha -Methyl-9alpha -fluoroprednisolone
16alpha-Methyl-9alpha-fluoro-1-dehydrocortisol
16alpha-Methyl-9alpha-fluoro-delta(sup 1)-hydrocortisone
16alpha-Methyl-9alpha-fluoroprednisolone
16α-Methyl-9α-fluoro-1-dehydrocortisol
23495-06-9
31375_FLUKA
46165_FLUKA
46165_RIEDEL
50-02-2
8054-59-9
9-Fluoro-11,17,21-trihydroxy-16-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11alpha -methylpregna-1,4-diene-3,20-dione
9-Fluoro-16-methylprednisolone
9-alpha-Fluoro-16-alpha-methylprednisolone
9.alpha.-Fluoro-16.alpha.-methylprednisolone
906422-84-2
9A-FLUORO-16BETA-METHYLPREDNISOLONE
9alpha -Fluoro-16alpha -methylprednisolone
9alpha-Fluoro-16alpha-methylprednisolone
9alpha-fluoro-16alpha-methyl-Prednisolone
9α-Fluoro-16α-methylprednisolone
AC-11056
AC1L1L1H
AC1Q29DM
AI3-50934
Adexone
Aeroseb-D
Aeroseb-Dex
Aeroseb-dex
Ak Dex Oph Otic Soln 0.1%
Alcon Brand of Dexamethasone
Anaflogistico
Aphtasolon
Aphthasolone
Apo-dexamethasone
Auxiron
Azimycin (veterinary)
Azium
Azium (Veterinary)
Azium (veterinary)
BIDD:ER0494
BIDD:PXR0060
BRD-K38775274-001-02-3
BRD-K38775274-001-06-4
BSPBio_000995
Baycadron
Bisu DS
Bisu Ds
C15643
C22H29FO5
CCRIS 7067
CHEBI:41879
CHEMBL384467
CID5743
CPD-10549
CPD001227192
Calonat
Corson
Corsone
Cortisumman
D00292
D003907
D1756_SIGMA
D4902_SIGMA
D6645_SIGMA
D8893_SIGMA
D9184_SIGMA
DB01234
DEX
DEXA
DEXONE 0.5
DEXONE 0.75
DEXONE 1.5
DEXONE 4
DXM
DXMS
Decacort
Decacortin
Decaderm
Decadron
Decadron (TN)
Decadron Tablets, Elixir
Decadron, Dexamethasone
Decadron-LA
Decadron-La
Decagel
Decaject
Decaject L.A.
Decaject-L.A.
Decalix
Decameth
Decasone
Decaspray
Dectancyl
Dekacort
Delta1-9alpha-Fluoro-16alpha-methylcortisol
Deltafluorene
Dergramin
Deronil
Desadrene
Desametasone
Desametasone [DCIT]
Desametasone [Dcit]
Desamethasone
Desameton
Deseronil
Dex-Ide
Dex-ide
Dexa
Dexa Mamallet
Dexa mamallet
Dexa-Cortidelt
Dexa-Cortisyl
Dexa-Mamallet
Dexa-Scheroson
Dexa-Sine
Dexa-cortidelt
Dexa-cortisyl
Dexa-scheroson
Dexa-sine
Dexacen-4
Dexacidin
Dexacort
Dexacortal
Dexacortin
Dexadeltone
Dexafarma
Dexair
Dexalona
Dexaltin
Dexametasona
Dexametasona [INN-Spanish]
Dexametasone
Dexameth
Dexamethansone
 
Dexamethasone
Dexamethasone (JP15/USP/INN)
Dexamethasone Acetate
Dexamethasone Alcohol
Dexamethasone Base
Dexamethasone Intensol
Dexamethasone Sodium Phosphate
Dexamethasone [INN:BAN:JAN]
Dexamethasone acetate
Dexamethasone alcohol
Dexamethasone base
Dexamethasone intensol
Dexamethasone sodium phosphate
Dexamethasone-omega
Dexamethasonum
Dexamethasonum [INN-Latin]
Dexamethazone
Dexamethsone
Dexamonozon
Dexapolcort
Dexapos
Dexaprol
Dexason
Dexasone
Dexasone 0.5mg
Dexasone 0.75mg
Dexasone 4mg
Dexasporin
Dexinolon
Dexinoral
Dexone
Dexone 0.5
Dexone 0.75
Dexone 1.5
Dexone 4
Dexonium
Dexpak
Dextelan
Dezone
Dinormon
Dxms
ECR Brand of Dexamethasone
EINECS 200-003-9
FT-0080377
Fluormethylprednisolone
Fluormone
Fluorocort
Fortecortin
Foy Brand of Dexamethasone
Gammacorten
HL-dex
HMS1792A17
HMS1990A17
HMS2089N13
HSDB 3053
Hexadecadrol
Hexadrol
Hexadrol Elixir
Hexadrol Tablets
Hexadrol elixir
Hl-Dex
Hl-dex
I06-1196
ICN Brand of Dexamethasone
IontoDex
Isopto-Dex
Isopto-dex
LS-7300
Lokalison F
Lokalison f
Loverine
Luxazone
MK 125
MLS001055412
MLS001332507
MLS001332508
Maxidex
Maxidex Ont 0.1%
Maxidex Sus 0.1%
Maxitrol
Mediamethasone
Merck Brand of Dexamethasone
Merz Brand 1 of Dexamethasone
Merz Brand 2 of Dexamethasone
Methylfluorprednisolone
Mexidex
Millicorten
MolMap_000018
MolPort-003-846-433
Mymethasone
NCGC00091019-01
NCGC00091019-02
NCGC00091019-03
NCGC00091019-04
NCGC00091019-05
NCI60_003067
NSC 34521
NSC34521
Naquasone (veterinary)
Neomycin and polymyxin b sulfates and dexamethasone
Neomycin and polymyxin b sulphates and dexamethasone
OTO-104
Ocu-Trol
Ocu-trol
Oradexon
Ozurdex
PHL-dexamethasone
PMS-dexamethasone
Pet Derm III
Pet Derm Iii
Pet derm III
Pet-Derm Iii
Pms Dexamethasone Elixir 0.5mg/5ml
Policort
Posurdex
Prednisolon F
Prednisolon f
Prednisolone F
Prednisolone f
Prodex
S1322_Selleck
SAM002548948
SGCUT00126
SK-Dexamethasone
SK-dexamethasone
SMP1_000092
SMR000857119
SMR001227192
ST50307091
Sandoz dexamethasone
Sk-Dexamethasone
Spectrum5_002019
Spoloven
Sunia Sol D
Sunia sol D
Superprednol
TL8003317
Tobradex
Tobramycin and dexamethasone
Tresaderm (veterinary)
Turbinaire
UNII-7S5I7G3JQL
Visumetazone
WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ G1
ZINC03875332
alpha -Fluoro-16-alpha -methylcortisol
delta(Sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta(sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta1-9alpha-Fluoro-16alpha-methylcortisol
dexamethasone
nchembio809-comp2
to_000038
26
Vareniclineapproved, investigationalPhase 2, Phase 3255249296-44-45310966
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
27
Pioglitazoneapproved, investigationalPhase 3419111025-46-84829
Synonyms:
(+-)-5-((4-(2-(5-Ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
(+-)-5-((4-(2-(5-ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
(+/-)-5-[[4-[2-(5-Ethyl-2-pyridinyl)-ethoxy]phenyl]methyl]-2,4-thiazolidinedione
(+/-)-5-[p-[2-(ethyl-2-pyridyl)ethoxy]benzyl]-2,4-thiazolidinedione
105355-27-9
111025-46-8
198077-89-3
2,4-Thiazolidinedione, 5-[[4-[2-(5-ethyl-2-pyridinyl)ethoxy]phenyl]methyl]- (9CI)
5-((4-(2-(5-Ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
5-(4-(2-(5-ethyl-2-pyridyl)ethoxy)benzyl)-2,4-thiazolidinedione
5-[4-[2-(5-Ethyl-2-pyridyl)ethoxy]benzyl]thiazolidine-2,4-dione
5-[[4-[2-(5-Ethyl-2-pyridinyl)ethoxy]phenyl]methyl]-2,4-thiazolidinedione
5-[[4-[2-(5-ethylpyridin-2-yl)ethoxy]phenyl]methyl]-1,3-thiazolidine-2,4-dione
5-[[4-[2-(5-ethylpyridin-2-yl)ethoxy]phenyl]methyl]thiazolidine-2,4-dione
5-[[4-[2-[(5-ethyl-2-pyridyl)]ethoxy]phenyl]methyl]thiazolidine- 2,4-dione
5-{4-[2-(5-ethylpyridin-2-yl)ethoxy]benzyl}-1,3-thiazolidine-2,4-dione
AB1004597
AC-1021
AC1L1J1Q
AD 4833
AD-4833
Actos
Actos (TN)
Actost
BRD-A48430263-003-02-4
BSPBio_002723
C07675
C19H20N2O3S
CHEBI:8228
CHEMBL595
CID4829
D08378
DB01132
Duetact
Glustin
HMS2089H14
HS-0047
 
HSDB 7322
I06-0089
KBio2_002103
KBio2_004671
KBio2_007239
KBio3_001943
KBioGR_001619
KBioSS_002103
LS-151327
MolPort-002-508-211
NCGC00163128-01
NCGC00163128-02
Pioglitazona
Pioglitazona [INN-Spanish]
Pioglitazone
Pioglitazone HCl
Pioglitazone Hydrochloride
Pioglitazone [BAN:INN]
Pioglitazone [Ban:Inn]
Pioglitazone [INN:BAN]
Pioglitazonum
Pioglitazonum [INN-Latin]
SPBio_001897
Spectrum2_001679
Spectrum3_001002
Spectrum4_001130
Spectrum5_001480
Spectrum5_002067
Spectrum_001623
U 72107
U 72107A
U-72107
U72,107A
UNII-X4OV71U42S
Zactos
nchembio790-comp10
pioglitazone (INN)
pioglitazone HCl
28
GlycerolexperimentalPhase 319156-81-5753
Synonyms:
1,2,3-Trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerine
Glyceritol
Glycerol
 
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
29Trace ElementsPhase 3, Phase 23900
30MicronutrientsPhase 3, Phase 23901
31Nicotinic AgonistsPhase 2, Phase 3701
32Hypoglycemic AgentsPhase 34503
33BB 1101Phase 31909
34Dexamethasone acetatePhase 319091177-87-3
35VaccinesPhase 36085
36Dexamethasone 21-phosphatePhase 31909
37Pharmaceutical SolutionsPhase 3, Phase 2, Phase 17004
38VitaminsPhase 3, Phase 23857
39Cholinergic AgentsPhase 2, Phase 33243
40UbiquinonePhase 3, Phase 292
41Excitatory Amino Acid AntagonistsPhase 2, Phase 31095
42Thyrotropin-Releasing HormonePhase 314
43AnticonvulsantsPhase 2, Phase 32249
44Immunologic FactorsPhase 3, Phase 2, Phase 118483
45Central Nervous System DepressantsPhase 2, Phase 3, Phase 110016
46Psychotropic DrugsPhase 2, Phase 3, Phase 15501
47Lithium CarbonatePhase 2, Phase 3, Phase 1211
48Excitatory Amino AcidsPhase 2, Phase 31109
49Neuroprotective AgentsPhase 2, Phase 31376
50idebenonePhase 3, Phase 2, Phase 119

Interventional clinical trials:

(show top 50)    (show all 56)
idNameStatusNCT IDPhase
1Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT)RecruitingNCT01052623Phase 4
2Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3CompletedNCT01096082Phase 2, Phase 3
3A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)CompletedNCT01970124Phase 3
4An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)CompletedNCT01970111Phase 3
5A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)CompletedNCT01970098Phase 3
6A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)CompletedNCT01970137Phase 3
7Efficacy of Riluzole in Hereditary Cerebellar AtaxiaCompletedNCT01104649Phase 2, Phase 3
8Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI)CompletedNCT01303406Phase 3
9Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's AtaxiaCompletedNCT00537680Phase 3
10A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) PatientsCompletedNCT00905268Phase 3
11Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT)CompletedNCT00656409Phase 3
12Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia PatientsCompletedNCT00697073Phase 3
13Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of ConceptCompletedNCT00811681Phase 3
14Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension)CompletedNCT00993967Phase 3
15Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10Active, not recruitingNCT02333305Phase 3
16Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich's AtaxiaActive, not recruitingNCT02415127Phase 3
17Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich's Ataxia StudyEnrolling by invitationNCT02593773Phase 3
18EDS in Ataxia Telangiectasia PatientsNot yet recruitingNCT02770807Phase 3
19Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's AtaxiaTerminatedNCT00803868Phase 2, Phase 3
20Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3CompletedNCT00992771Phase 2
21High-Dose Intravenous Immunoglobulin to Treat Cerebellar DegenerationCompletedNCT00034242Phase 2
22Idebenone to Treat Friedreich's AtaxiaCompletedNCT00229632Phase 2
23Efficacy of Epoetin Alfa in Patients With Friedreich's AtaxiaCompletedNCT00631202Phase 2
24Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's AtaxiaCompletedNCT01016366Phase 2
25Safety and Efficacy Study of A0001 in Subjects With Friedreich's AtaxiaCompletedNCT01035671Phase 2
26The Influence of Deep TMS on Cerebellar Signs in Patients With Machado Joseph DiseaseRecruitingNCT02039206Phase 2
27Study To Assess Safety, Tolerability and Efficacy of Intravenous Cabaletta in Patients With Machado-Joseph DiseaseRecruitingNCT02147886Phase 2
28Effect of Nicotinamide in Friedreich's AtaxiaActive, not recruitingNCT01589809Phase 2
29EPI-743 in Friedreich's Ataxia Point MutationsActive, not recruitingNCT01962363Phase 2
30A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells TransplantationEnrolling by invitationNCT01489267Phase 2
31Pilot Study of Safety and Efficacy of Sodium Phenylbutyrate in Spinocerebellar Ataxia Type 3WithdrawnNCT01096095Phase 2
32Lithium Treatment for Patients With Spinocerebellar Ataxia Type ICompletedNCT00683943Phase 1
33Safety and Pharmacology Study of VP 20629 in Adults With Friedreich's AtaxiaCompletedNCT01898884Phase 1
34Safety Study of Idebenone to Treat Friedreich's AtaxiaCompletedNCT00015808Phase 1
35Phase 1 Trial of Idebenone to Treat Patients With Friedreich's AtaxiaCompletedNCT00078481Phase 1
36An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar AtaxiasRecruitingNCT02287064Phase 1
37Dalfampridine and Gait in Spinocerebellar AtaxiasCompletedNCT01811706
38Biomarkers in Autosomal Dominant Cerebellar AtaxiaCompletedNCT01470729
39Measuring Neurological Impairment and Functional Visual Assessment In Spinocerebellar AtaxiasCompletedNCT00654251
40Parkinsonism in Spinocerebellar Ataxia Type 6CompletedNCT01934998
41The Effect of Whole Body Vibration Training on Neuromuscular Property in Individuals With AtaxiaCompletedNCT01983631
42Study for Treatment of Cancer in Children With Ataxia-telangiectasiaCompletedNCT00187057
43Machado-Joseph Disease in IsraelRecruitingNCT02175290
44Natural History Study of and Genetic Modifiers in Spinocerebellar AtaxiasRecruitingNCT01060371
45The EUROSCA Natural History StudyRecruitingNCT02440763
46Functional and Structural Imaging and Motor Control in Spinocerebellar AtaxiaRecruitingNCT02488031
47Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)RecruitingNCT02316314
48RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7Active, not recruitingNCT01037777
49Development of iPS From Donated Somatic Cells of Patients With Neurological DiseasesActive, not recruitingNCT00874783
50Transcranial Magnetic Stimulation in Spino-Cerebellar AtaxiaActive, not recruitingNCT01975909

Search NIH Clinical Center for Machado-Joseph Disease


Cochrane evidence based reviews: machado-joseph disease

Genetic Tests for Machado-Joseph Disease

About this section

Genetic tests related to Machado-Joseph Disease:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 322 ATXN3

Anatomical Context for Machado-Joseph Disease

About this section

MalaCards organs/tissues related to Machado-Joseph Disease:

33
Eye, Tongue, Spinal cord, Cerebellum, Brain, Breast, T cells

Animal Models for Machado-Joseph Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Machado-Joseph Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.0AR, ATN1, ATXN1, ATXN7, HTT, SLC6A3
2MP:00053766.6AR, ATN1, ATXN1, ATXN2, ATXN3, HSPB1
3MP:00053866.3AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7
4MP:00036316.2AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7
5MP:00107686.2AR, ATN1, ATXN1, ATXN2, ATXN7, HTR1A
6MP:00053786.0AR, ATN1, ATXN1, ATXN2, ATXN7, HSPB1

Publications for Machado-Joseph Disease

About this section

Articles related to Machado-Joseph Disease:

(show top 50)    (show all 350)
idTitleAuthorsYear
1
Microarray expression profile of lncRNAs and the upregulated ASLNC04080 lncRNA in human endometrial carcinoma. (25695231)
2015
2
Bilateral idiopathic granulomatous mastitis. (25944108)
2015
3
Giant eccrine hidradenoma mimicking a malignant tumor of the salivary gland. (25075376)
2014
4
FGFR2 is amplified in the NCI-H716 colorectal cancer cell line and is required for growth and survival. (24968263)
2014
5
A primary inflammatory myofibroblastic tumor of the scapula in a child: imaging findings. (25307049)
2014
6
Source of homologous parasites in recurrent Plasmodium vivax malaria. (22696499)
2012
7
The importance of neglected tropical diseases in sustaining leprosy programmes. (22997687)
2012
8
The potential of flavanol and procyanidin intake to influence age-related vascular disease. (22888843)
2012
9
Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis. (21480867)
2012
10
c-Met signaling induces a reprogramming network and supports the glioblastoma stem-like phenotype. (21628563)
2011
11
Deltex1 is a target of the transcription factor NFAT that promotes T cell anergy. (19592273)
2009
12
Dug1p Is a Cys-Gly peptidase of the gamma-glutamyl cycle of Saccharomyces cerevisiae and represents a novel family of Cys-Gly peptidases. (19346245)
2009
13
GSK962040: a small molecule, selective motilin receptor agonist, effective as a stimulant of human and rabbit gastrointestinal motility. (19374732)
2009
14
European consensus conference on diagnosis and treatment of germ cell cancer: a report of the second meeting of the European Germ Cell Cancer Consensus group (EGCCCG): part I. (18191324)
2008
15
The tumor suppressor semaphorin 3B triggers a prometastatic program mediated by interleukin 8 and the tumor microenvironment. (18458115)
2008
16
Proteomics of photoreceptor outer segments identifies a subset of SNARE and Rab proteins implicated in membrane vesicle trafficking and fusion. (18245078)
2008
17
Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case-control study. (18521703)
2008
18
Increases in adiponectin predict improved liver, but not peripheral, insulin sensitivity in severely obese women during weight loss. (17327444)
2007
19
Novel class of pain drugs based on antagonism of NGF. (16376998)
2006
20
TNF-alpha, soluble TNF receptor and interleukin-6 plasma levels in the general population. (17194640)
2006
21
Specific protein interaction of human Pag with Omi/HtrA2 and the activation of the protease activity of Omi/HtrA2. (16413409)
2006
22
A-type nuclear lamins, progerias and other degenerative disorders. (15722103)
2005
23
An RNA aptamer that binds to the beta-catenin interaction domain of TCF-1 protein. (15629461)
2005
24
Massive myxoid leiomyosarcoma of the uterus. (15882188)
2005
25
Prolonged progestin treatment induces the promoter of CDK inhibitor p21 Cip1,Waf1 through activation of p53 in human breast and endometrial tumor cells. (12651158)
2003
26
Stevens-Johnson syndrome associated with ciprofloxacin: a review of adverse cutaneous events reported in Sweden as associated with this drug. (14576649)
2003
27
Can SOCS make arthritis better? (12639982)
2003
28
Crusted (Norwegian) scabies. (11932093)
2002
29
Antiapoptotic cytokine IL-3 + SCF + FLT3L influence on proliferation of gamma-irradiated AC133+/CD34+ progenitor cells. (12002675)
2002
30
Review: proteins with repeated sequence--structural prediction and modeling. (11551175)
2001
31
Chronic peripheral arterial occlusive disease, platelet glycoproteins GPIIb-IIIa and GP Ib-IX, plasma von Willebrand factor and plasma fibrinogen concentrations in patients with type 2 diabetes mellitus]. (11236240)
2000
32
Auto-activation of the rta gene of human herpesvirus-8/Kaposi's sarcoma-associated herpesvirus. (11086135)
2000
33
Effects of dopamine metabolites on locomotor activities and on the binding of dopamine: relevance to the side effects of L-dopa. (10834300)
2000
34
Tumor, normal tissue, and plasma pharmacokinetic studies of fluorouracil biomodulation with N-phosphonacetyl-L-aspartate, folinic acid, and interferon alfa. (10334547)
1999
35
Assignment of FRA1H common fragile site to human chromosome band 1q42.1 proximal to the nuclear NAD+ ADP-ribosyltransferase gene (ADPRT) and to the main 5S rRNA gene locus. (9763679)
1998
36
A case of pulmonary embolism caused by paroxysmal nocturnal hemoglobinuria. (9559419)
1998
37
Diffusion behavior of eugenol from zinc oxide-eugenol mixtures through human and bovine dentin in vitro. (9227123)
1997
38
Treatment of cervical incompetence by transabdominal cervicoisthmic cerclage. (9429702)
1997
39
Chromosomal mapping and expression of the human cyr61 gene in tumour cells from the nervous system. (9536281)
1997
40
Light microscopic histochemical and immunohistochemical localisation of sulphated glycosaminoglycans in the rooster comb and wattle tissues. (8982840)
1996
41
Ambulatory anal surgery: a feasibility study]. (9035429)
1996
42
Monocyte Fc gamma receptor cross-linking induces IL-8 production. (7673729)
1995
43
Isolation and characterization of the rolipram-sensitive cyclic AMP-specific phosphodiesterase (type IV PDE) in human term myometrium. (7946965)
1994
44
Vitamin E enhances the acylation of 1-O-alkyl-sn-glycero-3-phosphocholine in human endothelial cells. (8129709)
1994
45
Effect of pyridostigmine bromide on acceleration tolerance and performance. (8161320)
1994
46
The reliability of the mean normal prothrombin time of fresh plasmas and of the normal value from a lyophilized 'normal' plasma in prothrombin ratio determination. (7819111)
1994
47
Glucose tolerance in subclinical pyridoxine deficiency in man. (6351588)
1983
48
Fracture of the patella due to overuse syndrome in a child. A case report. (7125049)
1982
49
Laryngeal papillomatosis. (6030188)
1967
50

Variations for Machado-Joseph Disease

About this section

Clinvar genetic disease variations for Machado-Joseph Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ATXN3NM_004993.5(ATXN3)NT expansionPathogenicGRCh37Chr 14, 92537382: 92537384
2ATXN3NM_004993.5(ATXN3): c.892_894CAG(8_36) (p.Gln298_Gln305=)NT expansionPathogenic, risk factorrs193922928GRCh37Chr 14, 92537355: 92537357

Expression for genes affiliated with Machado-Joseph Disease

About this section
Search GEO for disease gene expression data for Machado-Joseph Disease.

Pathways for genes affiliated with Machado-Joseph Disease

About this section

GO Terms for genes affiliated with Machado-Joseph Disease

About this section

Biological processes related to Machado-Joseph Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein deubiquitinationGO:001657910.0ATXN3, ATXN3L
2regulation of mRNA stabilityGO:00434889.7HSPB1, RPS27A
3translesion synthesisGO:00199859.7RPS27A, VCP
4error-free translesion synthesisGO:00709879.5RPS27A, VCP
5nucleotide-excision repairGO:00062899.5ATXN3, RPS27A

Sources for Machado-Joseph Disease

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