MJD
MCID: MCH002
MIFTS: 63

Machado-Joseph Disease (MJD) malady

Neuronal diseases category

Summaries for Machado-Joseph Disease

About this section
Sources:
46OMIM, 32MalaCards
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, testes and eye, and related mouse phenotypes are no phenotypic analysis and skeleton.

Description from OMIM:46 109150

Aliases & Classifications for Machado-Joseph Disease

About this section
Sources:
8Disease Ontology, 9diseasecard, 48Orphanet, 60UMLS, 22GTR, 39NCIt, 56SNOMED-CT, 46OMIM, 34MeSH, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 48 60
azorean disease 8 22
nigro-spino-dentatal degeneration with nuclear ophthalmoplegia 48
autosomal dominant striatonigral degeneration 48
azorean disease of the nervous system 48
spinocerebellar ataxia type 3 48
machado disease 48
sca3 48
mjd 48


External Ids:

Disease Ontology8 DOID:1440
NCIt39 C84830
OMIM46 109150
SNOMED-CT56 91952008
ICD10 via Orphanet26 G11
SNOMED-CT via Orphanet57 91952008

Related Diseases for Machado-Joseph Disease

About this section
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 99)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia31.5CACNA1A, HTT, ATXN2, ATXN3, ATXN1, TBP
2spinocerebellar ataxia type 331.4ATXN3
3dentatorubral-pallidoluysian atrophy30.9HTT, ATXN2, ATXN3, ATN1, ATXN1, TBP
4cerebellar ataxia30.9CACNA1A, ATXN2, ATXN7, ATXN3
5neuropathy30.8CACNA1A
6movement disease30.8SLC6A3, SNCA, HTT, RPS27A
7olivopontocerebellar atrophy30.7SNCA, ATXN2
8multiple system atrophy30.6SLC6A3, ATXN1, ATXN3, RPS27A, HTT, SNCA
9striatonigral degeneration30.6RPS27A, SNCA, SLC6A3
10rem sleep behavior disorder30.5SLC6A3, SNCA
11motor neuron disease30.5RPS27A, HSPB1, HTT, CREBBP, SNCA, VCP
12dementia30.5RPS27A, HSPB1, HTR1A, HTT, SNCA, TBP
13multiple sclerosis30.3HSPB1
14retinal degeneration30.3ATXN7
15myotonic dystrophy30.3SP1, HTT
16spinocerebellar degeneration30.3CHERP, ATXN1, RPS27A, CACNA1A, ATXN2, ATXN3
17hereditary ataxia30.3CACNA1A, ATXN2, ATXN7, ATXN3, ATN1, ATXN1
18huntington's disease30.2ATXN1, TBP, CHERP, SLC6A3, SP1, ATN1
19spinocerebellar ataxia type 729.9ATXN2, ATXN7, CHERP
20brain disease10.8
21chromosomal disease10.7
22cerebellar disease10.7
23neuronitis10.6
24sleep disorder10.6
25spinocerebellar ataxia type 610.5
26autosomal dominant disease10.5
27nervous system disease10.5
28neurologic diseases10.5
29machado-joseph disease type 110.5
30machado-joseph disease type 310.5
31machado-joseph disease type 210.5
32hereditary spastic paraplegia10.4
33muscular atrophy10.4
34eye disease10.4
35paraplegia10.4
36peripheral nervous system disease10.4
37peripheral neuropathy10.4
38spinal muscular atrophy10.4
39vestibular disease10.4
40spinocerebellar ataxia x-linked type 310.3
41thalamic disease10.2
42cerebritis10.2
43restless legs syndrome10.2
44azoospermia10.2
45autosomal genetic disease10.2
46central nervous system disease10.2
47complex regional pain syndrome10.2
48eyelid disease10.2
49glucose metabolism disease10.2
50myotonic disease10.2

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



Diseases related to machado-joseph disease

Clinical Features for Machado-Joseph Disease

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

109150

Drugs & Therapeutics for Machado-Joseph Disease

About this section
Sources:
5CenterWatch, 41NIH 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

About this section
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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Machado-Joseph Disease:

32
Brain, Testes, Eye, Cerebellum, Heart, Globus pallidus, Thalamus, Skeletal muscle, Cortex, Tongue

Animal Models for Machado-Joseph Disease or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Machado-Joseph Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.8TBP, ATN1, ATXN3, SNCA, HTT, CACNA1A
2MP:00053909.4HTT, CREBBP, SNCA, ATXN7, ATXN1, SLC6A3
3MP:00107719.2CACNA1A, HTT, CREBBP, SNCA, SLC6A3, VCP
4MP:00053869.2VCP, CACNA1A, HTR1A, HTT, CREBBP, SNCA
5MP:00036319.2SNCA, CREBBP, HTT, HTR1A, CACNA1A, ATXN2
6MP:00053769.1CACNA1A, HTR1A, HTT, CREBBP, SNCA, ATXN2
7MP:00053789.0ATXN2, SNCA, CREBBP, HTT, CACNA1A, ATXN7
8MP:00107688.9SNCA, CREBBP, HTT, HTR1A, CACNA1A, ATXN2

Publications for Machado-Joseph Disease

About this section
Sources:
50PubMed
See all sources

Articles related to Machado-Joseph Disease:

(show top 50)    (show all 316)
idTitleAuthorsYear
1
A randomized, phase 2 clinical trial of lithium carbonate in Machado-Joseph disease. (24399647)
2014
2
"Hot cross bun" sign resembling multiple system atrophy in a patient with Machado-Joseph disease. (24212526)
2013
3
Machado-Joseph disease and other rare spinocerebellar ataxias. (22411243)
2012
4
Mouse models of spinocerebellar ataxia type 3 (Machado-Joseph disease). (22451301)
2012
5
Cognitive deficits in Machado-Joseph disease correlate with hypoperfusion of visual system areas. (22307858)
2012
6
Flattened facial colliculus on magnetic resonance imaging in Machado-Joseph disease. (22693147)
2012
7
Administration of vincristine in a patient with Machado-Joseph disease. (22433430)
2012
8
Urinary symptoms and urodynamic findings in patients with Machado-Joseph disease. (21072533)
2011
9
Polyglutamine diseases: the special case of ataxin-3 and Machado-Joseph disease. (21740957)
2011
10
Silencing ataxin-3 mitigates degeneration in a rat model of Machado-Joseph disease: no role for wild-type ataxin-3? (20308049)
2010
11
Caring for Machado-Joseph disease: current understanding and how to help patients. (19811945)
2010
12
The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls. (19935829)
2010
13
Analysis of segregation patterns in Machado-Joseph disease pedigrees. (18688568)
2008
14
Fatigue and daytime somnolence in Machado Joseph Disease (spinocerebellar ataxia type 3). (18512748)
2008
15
Machado-Joseph disease enhances genetic fitness: a comparison between affected and unaffected women and between MJD and the general population. (17683516)
2008
16
Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal). (18286225)
2008
17
Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives. (17167246)
2007
18
Non-movement disorder heralds symptoms of Machado-Joseph disease years before ataxia. (15747372)
2005
19
Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal. (16340213)
2005
20
Cognitive impairments in Machado-Joseph disease. (15534186)
2004
21
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
22
The pathogenesis of Machado Joseph Disease: a high manganese/low magnesium initiated CAG expansion mutation in susceptible genotypes? (15637221)
2004
23
Muscle cramp in Machado-Joseph disease: altered motor axonal excitability properties and mexiletine treatment. (12615652)
2003
24
'Drug holiday' effects of tandospirone in a patient with Machado-Joseph disease. (14629711)
2003
25
Beneficial effects of tandospirone on ataxia of a patient with Machado-Joseph disease. (11952922)
2002
26
Degeneration of the external cuneate nucleus in spinocerebellar ataxia type 3 (Machado-Joseph disease). (12384246)
2002
27
Machado-Joseph disease with retinal degeneration and dementia. (11903098)
2001
28
Improvement in the molecular diagnosis of Machado-Joseph disease. (11708990)
2001
29
The genomic structure and expression of MJD, the Machado-Joseph disease gene. (11450850)
2001
30
Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n. (11405804)
2001
31
A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. (11697524)
2001
32
Clinical and genetic analysis of an Italian family with Machado-Joseph disease. (11569907)
2001
33
Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract. (10196697)
1999
34
Maternal anticipation in Machado-Joseph disease (MJD): some maternal factors independent of the number of CAG repeat units may play a role in genetic anticipation in a Japanese MJD family. (9562258)
1998
35
CAG repeat number correlates with the rate of brainstem and cerebellar atrophy in Machado-Joseph disease. (9748049)
1998
36
Comparison of expanded CAG repeat tracts in sperm and lymphocyte DNA from Machado Joseph disease and spinocerebellar ataxia type I patients. (9452047)
1998
37
Somatic mosaicism of the expanded CAG trinucleotide repeat in mRNAs for the responsible gene of Machado-Joseph disease (MJD), dentatorubral-pallidoluysian atrophy (DRPLA), and spinal and bulbar muscular atrophy (SBMA). (9482263)
1998
38
Correlation of peripheral nerve fiber loss and trinucleotide repeats in Machado-Joseph disease. (9532283)
1998
39
Machado-Joseph disease, spinopontine atrophy, and SCA3. (9109924)
1997
40
Machado-Joseph disease: clinical, molecular, and metabolic characterization in Chinese kindreds. (9124801)
1997
41
Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats. (9132496)
1997
42
Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease. (8886159)
1996
43
Pure cerebellar ataxia phenotype in Machado-Joseph disease. (8649595)
1996
44
Clinicopathological study of the peripheral nervous system in Machado-Joseph disease. (7650531)
1995
45
Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD). (8523034)
1995
46
Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14. (8023841)
1994
47
Machado-Joseph disease or not? (2039375)
1991
48
Type III Machado-Joseph disease in a Japanese family: a clinicopathological study with special reference to the peripheral nervous system. (2743650)
1989
49
Spinopontine atrophy disputed as a separate entity: the first description of Machado-Joseph disease. (3463884)
1986
50
The peripheral neuropathy in Machado-Joseph disease. (3465189)
1986

Genetic Variations for Machado-Joseph Disease

About this section

Expression for genes affiliated with Machado-Joseph Disease

About this section
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

About this section
Sources:
49PharmGKB, 37NCBI BioSystems Database, 51QIAGEN, 4Cell Signaling Technology, 53Reactome, 29KEGG
See all sources

Compounds for genes affiliated with Machado-Joseph Disease

About this section
Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 59Tocris 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-tetrahydroisoquinoline4410.6SNCA, SLC6A3
2it 154410.6ATN1, HTT
3carbon-114410.6SLC6A3, HTR1A
4thioflavine s4410.6RPS27A, SNCA
5p-chloroamphetamine4410.6HTR1A, SLC6A3
6tmao4410.6SNCA, TBP
7milnacipran44 49 1112.5SLC6A3, HTR1A
8apomorphine44 28 1112.5HTR1A, SNCA, SLC6A3
9rotenone4410.5RPS27A, SLC6A3, SNCA
10methamphetamine44 49 1112.5RPS27A, SNCA, SLC6A3
116-hydroxydopamine4410.5RPS27A, SNCA, SLC6A3
12formate4410.5HTT, SNCA, RPS27A
13mptp4410.5SLC6A3, SNCA, RPS27A
14raclopride44 2811.5SLC6A3, HTR1A
15levodopa44 1111.4HTR1A, RPS27A, SNCA, SLC6A3
16sodium dodecylsulfate4410.4SNCA, TBP, RPS27A, HSPB1
17geldanamycin44 49 59 1113.4RPS27A, HSPB1, SNCA, HTT
18bortezomib44 1111.3HSPB1, VCP, RPS27A
19glyceraldehyde 3-phosphate4410.3ATN1, HSPB1, TBP, HTT
204-hydroxytamoxifen4410.3SP1, CREBBP, HSPB1
21guanine44 11 2412.3SP1, RPS27A, TBP, HTR1A
22melittin4410.3RPS27A, HSPB1
23polysaccharide4410.3CREBBP, SNCA, ATN1, RPS27A, VCP
24polyacrylamide4410.2HSPB1, ATXN2, ATXN7, ATXN3, TBP, CREBBP
25retinoid4410.2HTT, RPS27A, HSPB1, CREBBP, SP1
26butyrate4410.2RPS27A, SP1, CREBBP, HTT, HSPB1
27rapamycin4410.2RPS27A, HTT, SP1, HSPB1, SNCA
28phosphocellulose4410.2SP1, TBP
29tamoxifen44 49 28 1113.2RPS27A, HSPB1, SP1
30n acetylcysteine4410.2RPS27A, HSPB1, SNCA, SP1
31acetylcholine44 49 28 11 2414.1RPS27A, CACNA1A, HTR1A, SP1, SNCA, SLC6A3
32dopamine44 28 11 2413.1HTT, SNCA, RPS27A, SLC6A3, SP1, HTR1A
33creatinine4410.1SLC6A3, CREBBP, HTT, HSPB1, RPS27A
34nmda44 2811.1SP1, CREBBP, SLC6A3, RPS27A, HTR1A, HTT
35lysine4410.1HTT, CACNA1A, CREBBP, SNCA, TBP, RPS27A
36adenylate4410.1SNCA, TBP, SP1, HTR1A, RPS27A
37arginine4410.0HSPB1, SLC6A3, CREBBP, RPS27A, SNCA, SP1
38n-ethylmaleimide44 1111.0VCP, SP1, SLC6A3
39glutamate4410.0SP1, RPS27A, SNCA, HTT, SLC6A3, CACNA1A
40mdma4410.0SLC6A3, HTR1A
41threonine4410.0VCP, RPS27A, SP1, CACNA1A, HSPB1, CREBBP
42alanine449.9SP1, SLC6A3, TBP, SNCA, CREBBP, HTT
43atp44 2810.9VCP, HTT, RPS27A, CREBBP, TBP, HSPB1
44retinoic acid44 2410.9RPS27A, HSPB1, HTT, CREBBP, TBP, SP1
45h2o2449.8HSPB1, RPS27A, SLC6A3, SP1, SNCA
46tyrosine449.7VCP, SP1, ATN1, SNCA, HTT, HSPB1
47testosterone44 59 11 2412.7SP1, RPS27A, ATXN3, ATN1, ATXN1, CHERP
48cysteine449.7ATXN3, SNCA, HSPB1, RPS27A, TBP, CREBBP
49serine449.6RPS27A, HSPB1, CACNA1A, HTT, SP1, VCP
50glutamine449.0HSPB1, CREBBP, SNCA, ATXN2, ATXN3, ATN1

GO Terms for genes affiliated with Machado-Joseph Disease

About this section
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Machado-Joseph Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet