Details of Disease | DrugMAP

General Information of Disease (ID: DISTLABZ)

Disease Name	Striatal degeneration, autosomal dominant
Synonyms	autosomal dominant striatal neurodegeneration; ADSD
Definition	An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.\|See genetic heterogeneity of OMIM 609161 smb.
Disease Hierarchy	DIS0NDAM: Striatonigral degeneration DISTLABZ: Striatal degeneration, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0000211 MESH ID C563783 UMLS CUI C1836694 MedGen ID 322971 Orphanet ID 228169

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
PDE3B	TTN34SQ	Strong	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PDE8B	OT4217NK	Supportive	Autosomal dominant	[2]
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References

1	A novel mutation of PDE8B Gene in a Japanese family with autosomal-dominant striatal degeneration.Mov Disord. 2015 Dec;30(14):1964-7. doi: 10.1002/mds.26345. Epub 2015 Oct 13.
2	Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. Am J Hum Genet. 2010 Jan;86(1):83-7. doi: 10.1016/j.ajhg.2009.12.003.