MCID: MCH013
MIFTS: 9

Machado-Joseph Disease Type 3

Categories: Neuronal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Machado-Joseph Disease Type 3

MalaCards integrated aliases for Machado-Joseph Disease Type 3:

Name: Machado-Joseph Disease Type 3 55
Spinocerebellar Ataxia Type 3, Machado Type 55
Sca3, Machado Type 55

Characteristics:

Orphanet epidemiological data:

55
machado-joseph disease type 3
Inheritance: Autosomal dominant; Age of onset: Adult;

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Orphanet 55 ORPHA276244
UMLS via Orphanet 70 C0751670
ICD10 via Orphanet 33 G11.8

Summaries for Machado-Joseph Disease Type 3

MalaCards based summary : Machado-Joseph Disease Type 3, is also known as spinocerebellar ataxia type 3, machado type. An important gene associated with Machado-Joseph Disease Type 3 is ATXN3 (Ataxin 3).

Related Diseases for Machado-Joseph Disease Type 3

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 3

Drugs & Therapeutics for Machado-Joseph Disease Type 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Machado-Joseph Disease Type 3

Genetic Tests for Machado-Joseph Disease Type 3

Anatomical Context for Machado-Joseph Disease Type 3

Publications for Machado-Joseph Disease Type 3

Variations for Machado-Joseph Disease Type 3

Expression for Machado-Joseph Disease Type 3

Search GEO for disease gene expression data for Machado-Joseph Disease Type 3.

Pathways for Machado-Joseph Disease Type 3

GO Terms for Machado-Joseph Disease Type 3

Sources for Machado-Joseph Disease Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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