Details of Disease | DrugMAP

General Information of Disease (ID: DIS2DESR)

Disease Name	Machado-Joseph disease type 2
Synonyms	spinocerebellar ataxia, Thomas type; azorean disease, type ii; SCA3, Thomas type
Definition	Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.
Disease Hierarchy	DISQBQID: Spinocerebellar ataxia type 3 DIS2DESR: Machado-Joseph disease type 2
Disease Identifiers	MONDO ID MONDO_0017175 MESH ID D017827 UMLS CUI C0751669 MedGen ID 199707 Orphanet ID 276241

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.