MJD
MCID: MCH002
MIFTS: 63

Machado-Joseph Disease (MJD) malady

Neuronal diseases category

Summaries for Machado-Joseph Disease

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46OMIM, 32MalaCards
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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

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8Disease Ontology, 9diseasecard, 48Orphanet, 60UMLS, 22GTR, 39NCIt, 56SNOMED-CT, 46OMIM, 34MeSH, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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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

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17GeneCards, 18GeneDecks
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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

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

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46OMIM
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Clinical features from OMIM:

109150

Drugs & Therapeutics for Machado-Joseph Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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22GTR
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Genetic tests related to Machado-Joseph Disease:

id Genetic test Affiliating Genes
1 Azorean Disease22

Anatomical Context for Machado-Joseph Disease

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32MalaCards
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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

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36MGI
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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

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50PubMed
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Articles related to Machado-Joseph Disease:

(show top 50)    (show all 316)
idTitleAuthorsYear
1
Pattern of peripheral nerve involvement in Machado-Joseph disease: neuronopathy or distal axonopathy? A clinical and neurophysiological evaluation. (23234876)
2013
2
Substantia nigra echogenicity is correlated with nigrostriatal impairment in Machado-Joseph disease. (23680416)
2013
3
Toward understanding Machado-Joseph disease. (22133674)
2012
4
Cerebellar cognitive affective syndrome in Machado Joseph disease: core clinical features. (21975858)
2012
5
Cutaneous sympathetic dysfunction in patients with Machado-Joseph disease. (22528966)
2012
6
Estimation of skeletal muscle energy metabolism in Machado-Joseph disease using (31)P-MR spectroscopy. (20818604)
2011
7
Homozygous Machado Joseph Disease: a case report and review of literature. (20724264)
2010
8
Clinical evaluation of oropharyngeal dysphagia in Machado-Joseph disease. (21225141)
2010
9
Motor nerve hyperexcitability and muscle cramps in Machado-Joseph disease. (19139316)
2009
10
Linear T2 hyperintensity along the medial margin of the globus pallidus in patients with Machado-Joseph disease and Parkinson disease, and in healthy subjects. (17898197)
2007
11
Clinical and molecular events in patients with Machado-Joseph disease under lamotrigine therapy. (15876340)
2005
12
Autonomic dysfunction in Machado-Joseph disease. (15824264)
2005
13
The nucleus raphe interpositus in spinocerebellar ataxia type 3 (Machado-Joseph disease). (12663059)
2003
14
REM sleep behavior disorder and SCA-3 (Machado-Joseph disease). (12525744)
2003
15
Prenatal diagnosis of Machado-Joseph disease/Spinocerebellar Ataxia Type 3 in Taiwan: early detection of expanded ataxin-3. (12938149)
2003
16
Magnetic resonance imaging demonstrates differential atrophy of pontine base and tegmentum in Machado-Joseph disease. (14568127)
2003
17
REM sleep behavior disorder and vocal cord paralysis in Machado-Joseph disease. (14534924)
2003
18
Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians. (12360561)
2002
19
Brain single-photon emission computed tomography and magnetic resonance imaging in Machado-Joseph disease. (11493166)
2001
20
Retinopathy associated with Machado--Joseph disease (spinocerebellar ataxia 3) with CAG trinucleotide repeat expansion. (11384587)
2001
21
Ataxin-3 is translocated into the nucleus for the formation of intranuclear inclusions in normal and Machado-Joseph disease brains. (10993685)
2000
22
A small 55-repeat MJD1 CAG allele in a patient with Machado-Joseph disease and abnormal eye movements. (11053973)
2000
23
Machado-Joseph disease presenting as severe generalised dystonia in a German patient. (10525985)
1999
24
Machado-Joseph disease in three Scandinavian families. (9588850)
1998
25
Regional decrease in brain glucose metabolism in asymptomatic gene carriers of Machado-Joseph disease: a preliminary report. (9556942)
1998
26
Trimethoprim-sulfamethoxazole and biopterin treatment in Machado-Joseph disease. (9613774)
1998
27
Origins of a mutation: population genetics of Machado-Joseph disease in the Azores (Portugal). (9825593)
1998
28
Lower limb tremor in Machado-Joseph disease. (9781572)
1998
29
Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease. (9506544)
1998
30
Studies of the CAG repeat in the Machado-Joseph disease gene in Taiwan. (9254842)
1997
31
Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients. (9106546)
1997
32
Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy. (8926495)
1996
33
A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy. (8780110)
1996
34
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. (8559378)
1996
35
Tetrahydrobiopterin double-blind, crossover trial in Machado-Joseph disease. (8815181)
1996
36
Regional and cellular expression of the Machado-Joseph disease gene in brains of normal and affected individuals. (8957019)
1996
37
Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families. (7825583)
1995
38
Evaluation of the effect of sulphametoxazole and trimethoprim in patients with Machado-Joseph disease. (8597984)
1995
39
Gender equality in Machado-Joseph disease. (7550334)
1995
40
Neuro-otological and neuropathological findings in two cases with Machado-Joseph disease. (8749102)
1995
41
Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds. (7959745)
1994
42
The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q. (9216989)
1994
43
Homozygous inheritance of the Machado-Joseph disease gene. (8080254)
1994
44
Epidemiology and clinical aspects of Machado-Joseph disease. (8421964)
1993
45
Machado-Joseph disease: an autosomal dominant motor system degeneration. (1620135)
1992
46
Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies. (1620136)
1992
47
The Machado-Joseph disease locus is different from the spinocerebellar ataxia locus (SCA1). (1639414)
1992
48
Waiting for the family legacy: the experience of being at risk for Machado-Joseph disease. (2315750)
1990
49
Azorean (Machado-Joseph) disease. (3285449)
1988
50
The pathology of Machado-Joseph disease. Report of a possible homozygous case. (7136516)
1982

Genetic Variations for Machado-Joseph Disease

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Expression for genes affiliated with Machado-Joseph Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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49PharmGKB, 37NCBI BioSystems Database, 51QIAGEN, 4Cell Signaling Technology, 53Reactome, 29KEGG
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Compounds for genes affiliated with Machado-Joseph Disease

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

GO Terms for genes affiliated with Machado-Joseph Disease

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16Gene Ontology
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Cellular components related to Machado-Joseph Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear inclusion bodyGO:04240510.1ATXN1, ATXN3
2nuclear matrixGO:01636310.1ATXN1, ATN1, ATXN3, ATXN7
3inclusion bodyGO:0162349.9SNCA, HTT
4nucleoplasmGO:0056549.7ATXN3, SP1, TBP, ATXN1, CREBBP, RPS27A
5nucleusGO:0056348.8ATXN8, ATXN2, ATN1, SNCA, CREBBP, HTT
6cytoplasmGO:0057378.7SP1, VCP, ATXN3, CHERP, TBP, ATXN1

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:0428029.7HTT, SNCA, ATXN3, ATXN1, HSPB1
3transcription factor bindingGO:0081349.6HTT, TBP, SP1, CREBBP
4protein bindingGO:0055158.5SP1, HSPB1, CACNA1A, HTR1A, HTT, CREBBP

Products for genes affiliated with Machado-Joseph Disease

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Sources for Machado-Joseph Disease

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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