MJD
MCID: MCH002
MIFTS: 58

Machado-Joseph Disease (MJD) malady

Neuronal diseases, Rare diseases categories
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Summaries for Machado-Joseph Disease

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47OMIM, 33MalaCards
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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 Protein processing in endoplasmic reticulum and RNA Polymerase I Promoter Opening. The compounds p-chloroamphetamine and carbon-11 have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and cerebellum, and related mouse phenotypes are no phenotypic analysis and behavior/neurological.

Description from OMIM:47 109150

Aliases & Classifications for Machado-Joseph Disease

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8Disease Ontology, 9diseasecard, 22GTR, 49Orphanet, 62UMLS, 35MeSH, 58SNOMED-CT, 40NCIt, 47OMIM, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:

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


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 62
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
SNOMED-CT58 91952008
OMIM47 109150
ICD10 via Orphanet26 G11
SNOMED-CT via Orphanet59 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 74)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia31.6TBP, ATXN3
2spinocerebellar ataxia type 331.1HTR1A, TBP, ATN1, SLC6A3, ATXN3L, ATXN7
3cerebellar ataxia31.0ATXN3, ATXN7
4dentatorubral-pallidoluysian atrophy30.9ATXN3, TBP, ATN1
5olivopontocerebellar atrophy30.8ATXN3, ATN1
6multiple system atrophy30.8SLC6A3, ATXN3
7dementia30.5HTR1A, TBP, SLC6A3
8huntington's disease30.4ATXN3, TBP
9hereditary ataxia30.2ATN1, ATXN3, TBP, ATXN7
10ataxia11.1
11neuronitis10.7
12spasticity10.6
13neuropathy10.6
14dystonia10.5
15autonomic dysfunction10.5
16machado-joseph disease type 110.5
17machado-joseph disease type 310.5
18machado-joseph disease type 210.5
19striatonigral degeneration10.5
20hereditary spastic paraplegia10.4
21muscular atrophy10.4
22rem sleep behavior disorder10.4
23paraplegia10.4
24peripheral neuropathy10.4
25sleep disorder10.4
26dysphagia10.4
27spinocerebellar ataxia x-linked type 310.4
28cerebritis10.2
29restless legs syndrome10.2
30azoospermia10.2
31complex regional pain syndrome10.2
32motor neuron disease10.2
33multiple sclerosis10.2
34myotonic dystrophy10.2
35polyneuropathy10.2
36retinal degeneration10.2
37retinitis10.2
38vaginitis10.2
39myotonic dystrophy type 110.2
40brachydactylous dwarfism mseleni type10.2
41cerebellar degeneration10.2
42cerebello-olivary atrophy10.2
43paine syndrome10.2
44spastic paraparesis10.2
45chronic pain10.2
46dysautonomia10.2
47myoclonus10.2
48spinocerebellar atrophy10.2
49tremor10.2
50blindness10.2

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



Diseases related to machado-joseph disease

Symptoms for Machado-Joseph Disease

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47OMIM
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Clinical features from OMIM:

109150

Drugs & Therapeutics for Machado-Joseph Disease

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Machado-Joseph Disease

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Machado-Joseph Disease:

33
Brain, Testes, Cerebellum, Globus pallidus, Heart, Eye, Cortex, Tongue, Thalamus, Skeletal muscle

Animal Models for Machado-Joseph Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Machado-Joseph Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.1ATXN3, ATN1, HTR1A, TBP
2MP:00053868.0SLC6A3, HTR1A, ATN1, ATXN7, ATXN3
3MP:00036317.7ATXN3, ATXN7, ATN1, HTR1A, SLC6A3
4MP:00107687.5SLC6A3, TBP, HTR1A, ATN1, ATXN7

Publications for Machado-Joseph Disease

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52PubMed
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Articles related to Machado-Joseph Disease:

(show top 50)    (show all 312)
idTitleAuthorsYear
1
Nonmotor and extracerebellar features in Machado-Joseph disease: a review. (23775899)
2013
2
Machado-Joseph disease and other rare spinocerebellar ataxias. (22411243)
2012
3
Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado-Joseph Disease. (23181052)
2012
4
The Machado-Joseph disease deubiquitylase ATX-3 couples longevity and proteostasis. (21317884)
2011
5
Homozygous Machado Joseph Disease: a case report and review of literature. (20724264)
2010
6
Silencing ataxin-3 mitigates degeneration in a rat model of Machado-Joseph disease: no role for wild-type ataxin-3? (20308049)
2010
7
Involvement of Onuf's nucleus in Machado-Joseph disease: a morphometric and immunohistochemical study. (20503052)
2010
8
Clinical evaluation of oropharyngeal dysphagia in Machado-Joseph disease. (21225141)
2010
9
Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage products. (20510362)
2010
10
Spectral analysis of heart rate variability in patients with Machado-Joseph disease. (20060786)
2010
11
Prospective study of peripheral neuropathy in Machado-Joseph disease. (19802879)
2009
12
Machado-Joseph disease presenting as motor neuron disease. (17963092)
2008
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
Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3. (17234717)
2007
16
Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives. (17167246)
2007
17
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
18
Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I. (16630162)
2006
19
Linear high intensity area along the medial margin of the internal segment of the globus pallidus in Machado-Joseph disease patients. (15774449)
2005
20
Ectoine alters subcellular localization of inclusions and reduces apoptotic cell death induced by the truncated Machado-Joseph disease gene product with an expanded polyglutamine stretch. (16137577)
2005
21
Short-term psychological impact of predictive testing for Machado-Joseph disease: depression and anxiety levels in individuals at risk from the Azores (Portugal). (15692194)
2004
22
Early vestibular dysfunction in Machado-Joseph disease detected by caloric test. (15178224)
2004
23
Cognitive impairments in Machado-Joseph disease. (15534186)
2004
24
Muscle cramp in Machado-Joseph disease: altered motor axonal excitability properties and mexiletine treatment. (12615652)
2003
25
Magnetic resonance imaging findings of Machado-Joseph disease: histopathologic correlation. (12703019)
2003
26
Beneficial effects of tandospirone on ataxia of a patient with Machado-Joseph disease. (11952922)
2002
27
Presumed rapid eye movement behavior disorder in Machado-Joseph disease (spinocerebellar ataxia type 3). (12465081)
2002
28
Increased (CTG/CAG)(n) lengths in myotonic dystrophy type 1 and Machado-Joseph disease genes in idiopathic azoospermia patients. (12042281)
2002
29
Machado-Joseph disease with retinal degeneration and dementia. (11903098)
2001
30
A non-radioactive polymerase chain reaction method for diagnosis of Machado-Joseph disease. (10575843)
1999
31
Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract. (10196697)
1999
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
Machado-Joseph disease, spinopontine atrophy, and SCA3. (9109924)
1997
34
CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification. (9415538)
1997
35
A case of Machado-Joseph disease presenting with spastic paraparesis. (9153623)
1997
36
Studies of the CAG repeat in the Machado-Joseph disease gene in Taiwan. (9254842)
1997
37
Positron emission tomography (PET) in Machado-Joseph disease. (9073030)
1997
38
Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat. (8817326)
1996
39
Quantitative study of intermediolateral column cell counts in Machado-Joseph disease. (8994118)
1996
40
Severe and prolonged dysphagia complicating botulinum toxin A injections for dystonia in Machado-Joseph disease. (8618703)
1996
41
Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or Dentato-Rubro-Pallido-Luysian atrophy locus. (8684388)
1996
42
Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins. (8882886)
1996
43
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
44
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
45
Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds. (7959745)
1994
46
Machado-Joseph disease: an autosomal dominant motor system degeneration. (1620135)
1992
47
Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies. (1620136)
1992
48
DNA marker studies show that Machado Joseph disease is not an allele of the Huntington disease locus. (2525613)
1989
49
Machado-Joseph disease: the vestibular presentation. (3487657)
1986
50
Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorena Portuguese family. (7189034)
1980

Variations for Machado-Joseph Disease

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Expression for genes affiliated with Machado-Joseph Disease

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2BioGPS, 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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50PathCards, 30KEGG, 55Reactome
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Compounds for genes affiliated with Machado-Joseph Disease

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45Novoseek, 51PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB, 61Tocris Bioscience, 3BitterDB
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Compounds related to Machado-Joseph Disease according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1p-chloroamphetamine459.7SLC6A3, HTR1A
2carbon-11459.7HTR1A, SLC6A3
3milnacipran45 51 1111.7HTR1A, SLC6A3
4raclopride45 2910.7SLC6A3, HTR1A
5mdma459.7HTR1A, SLC6A3
6piperazine45 1110.7SLC6A3, HTR1A
7trimipramine45 51 1111.7SLC6A3, HTR1A
8nefazodone45 51 1111.7SLC6A3, HTR1A
9maoa459.7SLC6A3, HTR1A
10escitalopram45 51 24 1112.7HTR1A, SLC6A3
11pramipexole45 29 51 1112.7HTR1A, SLC6A3
12phencyclidine45 29 1111.7SLC6A3, HTR1A
13sertraline45 29 51 24 1113.7HTR1A, SLC6A3
14fluvoxamine45 51 1111.7HTR1A, SLC6A3
15venlafaxine45 51 24 1112.7HTR1A, SLC6A3
16clomipramine45 51 1111.7SLC6A3, HTR1A
17nortriptyline51 45 29 1112.6SLC6A3, HTR1A
18apomorphine29 45 1111.6SLC6A3, HTR1A
19paroxetine45 51 29 1112.6SLC6A3, HTR1A
20amitriptyline45 29 51 1112.6SLC6A3, HTR1A
21quetiapine45 51 29 24 1113.6HTR1A, SLC6A3
22bromocriptine45 29 1111.6HTR1A, SLC6A3
23desipramine45 51 1111.6HTR1A, SLC6A3
24risperidone45 51 29 61 24 1114.5HTR1A, SLC6A3
25fluoxetine45 51 29 1112.5HTR1A, SLC6A3
26citalopram45 51 24 1112.5SLC6A3, HTR1A
27imipramine45 29 51 24 1113.4HTR1A, SLC6A3
28olanzapine45 51 29 24 1113.4HTR1A, SLC6A3
29levodopa45 1110.3SLC6A3, HTR1A
305-hydroxytryptamine459.3SLC6A3, HTR1A
31clozapine45 29 51 1112.2HTR1A, SLC6A3
32polyacrylamide459.1ATXN7, ATXN3, TBP
33haloperidol45 51 29 3 1113.0SLC6A3, HTR1A
34glutamine458.7ATN1, ATXN3, ATXN7, TBP
35cysteine458.6TBP, SLC6A3, ATN1, ATXN3

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 matrixGO:0163638.8ATN1, ATXN7, ATXN3
2cytoplasmGO:0057377.8SLC6A3, TBP, ATN1, ATXN7, ATXN3

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

idNameGO IDScoreTop Affiliating Genes
1microtubule cytoskeleton organizationGO:0002269.3ATXN3, ATXN7
2regulation of dopamine metabolic processGO:0420539.2SLC6A3, HTR1A
3transcription, DNA-templatedGO:0063518.7ATXN3, ATXN3L, ATXN7, ATN1
4cell deathGO:0082198.2SLC6A3, ATXN3, ATXN7, TBP

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

idNameGO IDScoreTop Affiliating Genes
1ubiquitin-specific protease activityGO:0048439.7ATXN3, ATXN3L
2omega peptidase activityGO:0082429.6ATXN3, ATXN3L
3protein bindingGO:0055156.9ATXN3, ATXN7, ATN1, HTR1A, TBP, SLC6A3

Products for genes affiliated with Machado-Joseph Disease

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Sources for Machado-Joseph Disease

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet