MCID: MCH012
MIFTS: 12

Machado-Joseph Disease Type 1

Categories: Neuronal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Machado-Joseph Disease Type 1

MalaCards integrated aliases for Machado-Joseph Disease Type 1:

Name: Machado-Joseph Disease Type 1 56
Spinocerebellar Ataxia Type 3, Joseph Type 56
Sca3, Joseph Type 56

Characteristics:

Orphanet epidemiological data:

56
machado-joseph disease type 1
Inheritance: Autosomal dominant; Age of onset: Adult;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA276238
UMLS via Orphanet 70 C0751668
ICD10 via Orphanet 34 G11.8

Summaries for Machado-Joseph Disease Type 1

MalaCards based summary : Machado-Joseph Disease Type 1, is also known as spinocerebellar ataxia type 3, joseph type. An important gene associated with Machado-Joseph Disease Type 1 is ATXN3 (Ataxin 3). The drugs Varenicline and Cholinergic Agents have been mentioned in the context of this disorder.

Related Diseases for Machado-Joseph Disease Type 1

Diseases in the Machado-Joseph Disease family:

Machado-Joseph Disease Type 1 Machado-Joseph Disease Type 3
Machado-Joseph Disease Type 2

Symptoms & Phenotypes for Machado-Joseph Disease Type 1

Drugs & Therapeutics for Machado-Joseph Disease Type 1

Drugs for Machado-Joseph Disease Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Varenicline Approved, Investigational Phase 2 249296-44-4 5310966
2 Cholinergic Agents Phase 2
3 Neurotransmitter Agents Phase 2
4 Nicotinic Agonists Phase 2
5
Dopamine Approved 51-61-6, 62-31-7 681
6
4-Aminopyridine Approved 504-24-5 1727
7 Dopamine agonists
8 Dopamine Agents
9 Potassium Channel Blockers

Interventional clinical trials:

(show all 11)

id Name Status NCT ID Phase Drugs
1 Trial in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 BHV-4157;Placebo Comparator
2 The Influence of Deep TMS on Cerebellar Signs in Patients With Machado Joseph Disease Unknown status NCT02039206 Phase 2
3 Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3 Completed NCT00992771 Phase 2 varenicline;placebo
4 RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7 Unknown status NCT01037777
5 Biomarkers in Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
6 Dalfampridine and Gait in Spinocerebellar Ataxias Completed NCT01811706 Dalfampridine;Placebo
7 Parkinsonism in Spinocerebellar Ataxia Type 6 Completed NCT01934998
8 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
9 Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias Recruiting NCT01060371
10 The EUROSCA Natural History Study Recruiting NCT02440763
11 Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia Active, not recruiting NCT03120013

Search NIH Clinical Center for Machado-Joseph Disease Type 1

Genetic Tests for Machado-Joseph Disease Type 1

Anatomical Context for Machado-Joseph Disease Type 1

Publications for Machado-Joseph Disease Type 1

Variations for Machado-Joseph Disease Type 1

Expression for Machado-Joseph Disease Type 1

Search GEO for disease gene expression data for Machado-Joseph Disease Type 1.

Pathways for Machado-Joseph Disease Type 1

GO Terms for Machado-Joseph Disease Type 1

Sources for Machado-Joseph Disease Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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