MJD
MCID: MCH002
MIFTS: 59

Machado-Joseph Disease (MJD) malady

Neuronal category

Summaries for Machado-Joseph Disease

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Machado-Joseph Disease, also known as azorean disease, is related to spinocerebellar ataxia and spinocerebellar ataxia type 3. An important gene associated with Machado-Joseph Disease is ATXN3 (ataxin 3), and among its related pathways are Glucocorticoid Pathway (Peripheral Tissue), Pharmacodynamics and Regulation of degradation of wt-CFTR. The compounds 1-benzyl-1,2,3,4-tetrahydroisoquinoline and it 15 have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and cerebellum, and related mouse phenotypes are no phenotypic analysis and skeleton.

Description from OMIM:47 109150

Aliases & Classifications for Machado-Joseph Disease

Sources:
8Disease Ontology, 9diseasecard, 49Orphanet, 61UMLS, 22GTR, 40NCIt, 57SNOMED-CT, 47OMIM, 35MeSH, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
machado-joseph disease:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

machado-joseph disease 8 9 49 61
azorean disease 8 22
nigro-spino-dentatal degeneration with nuclear ophthalmoplegia 49
autosomal dominant striatonigral degeneration 49
azorean disease of the nervous system 49
spinocerebellar ataxia type 3 49
machado disease 49
sca3 49
mjd 49


External Ids:

Disease Ontology8 DOID:1440
NCIt40 C84830
OMIM47 109150
SNOMED-CT57 91952008
ICD10 via Orphanet26 G11

Related Diseases for Machado-Joseph Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Machado-Joseph Disease family:

machado-joseph disease type 1 machado-joseph disease type 3
machado-joseph disease type 2

Diseases related to Machado-Joseph Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 89)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia31.5CACNA1A, HTT, ATXN2, ATXN3, ATXN1, TBP
2spinocerebellar ataxia type 331.2ATXN3
3dentatorubral-pallidoluysian atrophy31.0HTT, ATXN2, ATXN3, ATN1, ATXN1, TBP
4striatonigral degeneration30.7RPS27A, SNCA, SLC6A3
5neuronal intranuclear inclusion disease30.6RPS27A
6dysphagia30.6ATXN1, ATXN3
7parkinson's disease30.6RPS27A, HTR1A, SNCA, SLC6A3
8olivopontocerebellar atrophy30.6SNCA, ATXN2
9spinocerebellar degeneration30.4CHERP, ATXN1, RPS27A, CACNA1A, ATXN2, ATXN3
10hereditary ataxia30.3CACNA1A, ATXN2, ATXN7, ATXN3, ATN1, ATXN1
11huntington's disease30.3ATXN1, TBP, CHERP, SLC6A3, SP1, ATN1
12ataxia11.1
13brain disease10.9
14dentatorubral atrophy10.7
15sleep disorder10.6
16dent's disease10.6
17autonomic dysfunction10.6
18spinocerebellar atrophy10.6
19autosomal dominant disease10.5
20machado-joseph disease type 110.5
21machado-joseph disease type 310.5
22machado-joseph disease type 210.5
23hereditary spastic paraplegia10.4
24muscular atrophy10.4
25spinal muscular atrophy10.4
26vestibular disease10.4
27spinal-bulbar muscular atrophy10.4
28spasticity10.4
29spinocerebellar ataxia x-linked type 310.4
30thalamic disease10.3
31restless legs syndrome10.3
32azoospermia10.3
33n syndrome10.3
34autosomal genetic disease10.3
35tongue disease10.3
36vaginal disease10.3
37brachydactylous dwarfism mseleni type10.3
38cerebellar degeneration10.3
39cerebello-olivary atrophy10.3
40spastic paraparesis10.3
41chronic pain10.3
42dysautonomia10.3
43myoclonus10.3
44tremor10.3
45episodic ataxia10.2
46swallowing disorders10.2
47myokymia10.2
48multiple sclerosis10.0HSPB1
49ophthalmoplegia10.0ATXN7
50paget's disease of bone10.0VCP

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



Diseases related to machado-joseph disease

Clinical Features for Machado-Joseph Disease

Sources:
47OMIM
See all sources

Clinical features from OMIM:

109150

Drugs & Therapeutics for Machado-Joseph Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Machado-Joseph Disease

Drug clinical trials:

Search ClinicalTrials for Machado-Joseph Disease

Search NIH Clinical Center for Machado-Joseph Disease

Search CenterWatch for Machado-Joseph Disease

Genetic Tests for Machado-Joseph Disease

Sources:
22GTR
See all sources

Genetic tests related to Machado-Joseph Disease:

id Genetic test Affiliating Genes
1 Azorean Disease22

Anatomical Context for Machado-Joseph Disease

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Machado-Joseph Disease:

33
Brain, Cortex, Cerebellum, Spinal cord, Heart, Skeletal muscle, Globus pallidus, Thalamus, Caudate nucleus, Tongue

Animal Models for Machado-Joseph Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Machado-Joseph Disease

Sources:
51PubMed
See all sources

Articles related to Machado-Joseph Disease:

(show top 50)    (show all 332)
idTitleAuthorsYear
1
A randomized, phase 2 clinical trial of lithium carbonate in Machado-Joseph disease. (24399647)
2014
2
Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of Machado-Joseph disease. (22832131)
2013
3
Caffeine and adenosine A(2A) receptor inactivation decrease striatal neuropathology in a lentiviral-based model of Machado-Joseph disease. (23625556)
2013
4
Sleep disorders in Machado-Joseph disease: a dopamine transporter imaging study. (23137414)
2013
5
Mouse models of spinocerebellar ataxia type 3 (Machado-Joseph disease). (22451301)
2012
6
Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3). (22422287)
2012
7
The Machado-Joseph disease deubiquitylase ATX-3 couples longevity and proteostasis. (21317884)
2011
8
Serum concentrations of NSE and S100B in spinocerebellar ataxia type 3/Machado-Joseph disease. (21743141)
2011
9
Thalamic volume and dystonia in Machado-Joseph disease. (20136696)
2011
10
The Machado-Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability. (20940148)
2011
11
Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease. (22113611)
2011
12
Involvement of Onuf's nucleus in Machado-Joseph disease: a morphometric and immunohistochemical study. (20503052)
2010
13
Caring for Machado-Joseph disease: current understanding and how to help patients. (19811945)
2010
14
Prospective study of peripheral neuropathy in Machado-Joseph disease. (19802879)
2009
15
Altered heart rate control in response to postural change in patients with Machado-Joseph disease (SCA3). (19009326)
2009
16
Chinese patients with Machado-Joseph disease presenting with complicated hereditary spastic paraplegia. (19453404)
2009
17
Sleep symptoms and their clinical correlates in Machado-Joseph disease. (18771522)
2009
18
Fatigue and daytime somnolence in Machado Joseph Disease (spinocerebellar ataxia type 3). (18512748)
2008
19
Machado-Joseph disease enhances genetic fitness: a comparison between affected and unaffected women and between MJD and the general population. (17683516)
2008
20
Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal). (18286225)
2008
21
The international cooperative ataxia rating scale in Machado-Joseph disease. Comparison with the unified multiple system atrophy rating scale. (17876849)
2007
22
Cambodian founder effect for spinocerebellar ataxia type 3 (Machado-Joseph disease). (17027034)
2006
23
Multiple sclerosis coinciding with Machado-Joseph disease. (15995831)
2005
24
Was the ataxia of Pierre Marie Machado-Joseph disease?: A reappraisal based on the last autopsy case from la SalpA-triA"re Hospital. (15148161)
2004
25
Attenuated nuclear shrinkage in neurons with nuclear aggregates--a morphometric study on pontine neurons of Machado-Joseph disease brains. (12460614)
2002
26
Executive and emotional dysfunction in Machado-Joseph disease. (12360550)
2002
27
Dopamine transporter concentration is reduced in asymptomatic Machado-Joseph disease gene carriers. (11850478)
2002
28
Machado-Joseph disease with retinal degeneration and dementia. (11903098)
2001
29
Improvement in the molecular diagnosis of Machado-Joseph disease. (11708990)
2001
30
Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n. (11405804)
2001
31
Decreased dopamine transporter binding in Machado-Joseph disease. (10855623)
2000
32
Cluster of Machado-Joseph disease in a small rural town near Nagasaki City, Japan: clinical and genetic studies of two families. (10399876)
1999
33
CAG repeat number correlates with the rate of brainstem and cerebellar atrophy in Machado-Joseph disease. (9748049)
1998
34
Positron emission tomography in asymptomatic gene carriers of Machado-Joseph disease. (9576542)
1998
35
Comparison of expanded CAG repeat tracts in sperm and lymphocyte DNA from Machado Joseph disease and spinocerebellar ataxia type I patients. (9452047)
1998
36
Electrophysiological features of central motor conduction in spinocerebellar atrophy type 1, type 2, and Machado-Joseph disease. (9771779)
1998
37
CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification. (9415538)
1997
38
A case of Machado-Joseph disease presenting with spastic paraparesis. (9153623)
1997
39
Machado-Joseph disease: cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene. (9270607)
1997
40
Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon. (9199580)
1997
41
Severe and prolonged dysphagia complicating botulinum toxin A injections for dystonia in Machado-Joseph disease. (8618703)
1996
42
Nine families with the SCA3/Machado-Joseph disease type of inherited ataxia. (8857759)
1996
43
Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus. (7573040)
1995
44
Neuro-otological and neuropathological findings in two cases with Machado-Joseph disease. (8749102)
1995
45
Type III Machado-Joseph disease in a Japanese family: a clinicopathological study with special reference to the peripheral nervous system. (2743650)
1989
46
A large Japanese family with Machado-Joseph disease: clinical and genetic studies. (2718740)
1989
47
The search for a physiologic marker of Machado-Joseph disease. (3467220)
1987
48
Machado-Joseph disease in an American-Italian family. (6536725)
1984
49
The natural history of Machado-Joseph disease. An analysis of 138 personally examined cases. (6509398)
1984
50
Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorena Portuguese family. (7189034)
1980

Genetic Variations for Machado-Joseph Disease

Expression for genes affiliated with Machado-Joseph Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Machado-Joseph Disease

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

Pathways for genes affiliated with Machado-Joseph Disease

Sources:
50PharmGKB, 38NCBI BioSystems Database, 52QIAGEN, 4Cell Signaling Technology, 54Reactome, 30KEGG
See all sources

Compounds for genes affiliated with Machado-Joseph Disease

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 60Tocris Bioscience, 24HMDB
See all sources

Compounds related to Machado-Joseph Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 59)
idCompoundScoreTop Affiliating Genes
11-benzyl-1,2,3,4-tetrahydroisoquinoline4510.6SNCA, SLC6A3
2it 154510.6HTT, ATN1
3p-chloroamphetamine4510.6HTR1A, SLC6A3
4thioflavine s4510.6SNCA, RPS27A
5carbon-114510.6HTR1A, SLC6A3
6tmao4510.6SNCA, TBP
7milnacipran45 50 1112.5SLC6A3, HTR1A
8apomorphine45 29 1112.5SLC6A3, SNCA, HTR1A
9rotenone4510.5SLC6A3, SNCA, RPS27A
10methamphetamine45 50 1112.5RPS27A, SNCA, SLC6A3
116-hydroxydopamine4510.5SLC6A3, SNCA, RPS27A
12formate4510.5SNCA, HTT, RPS27A
13mptp4510.5SLC6A3, SNCA, RPS27A
14raclopride45 2911.5SLC6A3, HTR1A
15levodopa45 1111.4SLC6A3, SNCA, HTR1A, RPS27A
16sodium dodecylsulfate4510.4TBP, SNCA, HSPB1, RPS27A
17geldanamycin45 50 60 1113.4RPS27A, HSPB1, HTT, SNCA
18bortezomib45 1111.3VCP, HSPB1, RPS27A
19glyceraldehyde 3-phosphate4510.3TBP, ATN1, HTT, HSPB1
204-hydroxytamoxifen4510.3SP1, CREBBP, HSPB1
21guanine45 11 2412.3RPS27A, HTR1A, TBP, SP1
22melittin4510.3RPS27A, HSPB1
23escitalopram45 50 11 2413.3SLC6A3, HTR1A
24polysaccharide4510.3VCP, ATN1, SNCA, CREBBP, RPS27A
25polyacrylamide4510.2HSPB1, CREBBP, ATXN2, ATXN7, ATXN3, TBP
26retinoid4510.2RPS27A, HSPB1, HTT, CREBBP, SP1
27butyrate4510.2RPS27A, HSPB1, HTT, CREBBP, SP1
28rapamycin4510.2RPS27A, HSPB1, HTT, SNCA, SP1
29tamoxifen45 50 29 1113.2SP1, HSPB1, RPS27A
30n acetylcysteine4510.2RPS27A, HSPB1, SNCA, SP1
31acetylcholine45 50 29 11 2414.1RPS27A, CACNA1A, HTR1A, SNCA, SLC6A3, SP1
32dopamine45 29 11 2413.1RPS27A, HTR1A, HTT, SNCA, SLC6A3, SP1
33creatinine4510.1RPS27A, HSPB1, HTT, CREBBP, SLC6A3
34nmda45 2911.1RPS27A, HTR1A, HTT, CREBBP, SLC6A3, SP1
35lysine4510.1RPS27A, CACNA1A, HTT, CREBBP, SNCA, TBP
36adenylate4510.1RPS27A, HTR1A, SNCA, TBP, SP1
37arginine4510.0RPS27A, HSPB1, CREBBP, SNCA, SLC6A3, SP1
38n-ethylmaleimide45 1111.0SLC6A3, VCP, SP1
39glutamate4510.0RPS27A, CACNA1A, HTT, SNCA, SLC6A3, SP1
40mdma4510.0SLC6A3, HTR1A
41threonine4510.0RPS27A, HSPB1, CACNA1A, CREBBP, VCP, SP1
42alanine459.9RPS27A, HSPB1, HTT, CREBBP, SNCA, TBP
43atp45 2910.9RPS27A, HSPB1, HTT, CREBBP, TBP, VCP
44retinoic acid45 2410.9RPS27A, HSPB1, HTT, CREBBP, TBP, SP1
45h2o2459.8SP1, SLC6A3, SNCA, HSPB1, RPS27A
46tyrosine459.7RPS27A, HSPB1, HTT, CREBBP, SNCA, ATN1
47testosterone45 60 11 2412.7RPS27A, HTT, CREBBP, SNCA, ATXN3, ATN1
48cysteine459.7RPS27A, HSPB1, HTT, CREBBP, SNCA, ATXN3
49serine459.6RPS27A, HSPB1, CACNA1A, HTT, CREBBP, SNCA
50glutamine459.0SP1, RPS27A, HSPB1, CACNA1A, HTT, CREBBP

GO Terms for genes affiliated with Machado-Joseph Disease

Sources:
16Gene Ontology
See all sources

Cellular components related to Machado-Joseph Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear inclusion bodyGO:04240510.1ATXN1, ATXN3
2nuclear matrixGO:01636310.1ATXN7, ATXN3, ATN1, ATXN1
3inclusion bodyGO:0162349.9HTT, SNCA
4nucleoplasmGO:0056549.7SP1, TBP, ATXN1, ATXN3, CREBBP, RPS27A
5nucleusGO:0056348.8HSPB1, CACNA1A, HTT, CREBBP, SNCA, ATXN8
6cytoplasmGO:0057378.7SP1, HSPB1, CACNA1A, HTT, CREBBP, SNCA

Biological processes related to Machado-Joseph Disease according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1exploration behaviorGO:03564010.5ATXN3, HTR1A
2regulation of dopamine metabolic processGO:04205310.4HTR1A, SLC6A3
3negative regulation of insulin-like growth factor receptor signaling pathwayGO:04356910.4ATXN7, ATXN1
4dopamine biosynthetic processGO:04241610.3SLC6A3, SNCA
5cerebellar Purkinje cell differentiationGO:02170210.2ATXN2, CACNA1A
6transcription initiation from RNA polymerase II promoterGO:00636710.1RPS27A, CREBBP, TBP, SP1
7hormone metabolic processGO:04244510.1HTT, CACNA1A
8gene expressionGO:0104679.8SP1, TBP, CREBBP, HSPB1, RPS27A
9negative regulation of neuron apoptotic processGO:0435249.8CACNA1A, HTT, SNCA
10cell deathGO:0082199.6SLC6A3, HSPB1, CACNA1A, ATXN8, ATXN2, ATXN7

Molecular functions related to Machado-Joseph Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1omega peptidase activityGO:00824210.3ATXN3L, ATXN3
2identical protein bindingGO:0428029.7HSPB1, HTT, SNCA, ATXN3, ATXN1
3transcription factor bindingGO:0081349.6SP1, TBP, CREBBP, HTT
4protein bindingGO:0055158.5SP1, HSPB1, CACNA1A, HTR1A, HTT, CREBBP

Products for genes affiliated with Machado-Joseph Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Machado-Joseph Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet