Details of Disease

General Information of Disease (ID: DISSCDO4)

Disease Name Autosomal dominant striatal neurodegeneration type 1
Synonyms
ADSD; autosomal dominant striatal neurodegeneration; striatal degeneration, autosomal dominant; striatal degeneration, autosomal dominant caused by mutation in PDE8B; PDE8B striatal degeneration, autosomal dominant; striatal degeneration, autosomal dominant 1; ADSD1; striatal Degeneration, autosomal dominant 1
Definition Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia.
Disease Hierarchy
DISHGY45: Parkinsonian disorder
DISTLABZ: Striatal degeneration, autosomal dominant
DISSCDO4: Autosomal dominant striatal neurodegeneration type 1
Disease Identifiers
MONDO ID
MONDO_0012205
UMLS CUI
C4310808
OMIM ID
609161
MedGen ID
934775

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PDE8B OT4217NK Strong Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.