General Information of Disease (ID: DISWZ7GY)

Disease Name Machado-Joseph disease type 3
Synonyms SCA3, Machado type; azorean disease, type iii; spinocerebellar ataxia type 3, Machado type
Definition Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.
Disease Hierarchy
DISQBQID: Spinocerebellar ataxia type 3
DISWZ7GY: Machado-Joseph disease type 3
Disease Identifiers
MONDO ID
MONDO_0017176
MESH ID
D017827
UMLS CUI
C0751670
MedGen ID
155611
Orphanet ID
276244

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ATXN3 TT6A17J Supportive Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATXN3 OTJVVGKT Supportive Autosomal dominant [1]
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References

1 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.