Details of Disease | DrugMAP

General Information of Disease (ID: DISL5OAW)

Disease Name	Machado-Joseph disease type 1
Synonyms	azorean disease, type i; SCA3, Joseph type; spinocerebellar ataxia type 3, Joseph type
Definition	Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs.
Disease Hierarchy	DISQBQID: Spinocerebellar ataxia type 3 DISL5OAW: Machado-Joseph disease type 1
Disease Identifiers	MONDO ID MONDO_0017174 MESH ID D017827 UMLS CUI C0751668 MedGen ID 155610 Orphanet ID 276238

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.