General Information of Disease (ID: DISBIK77)

Disease Name Striatal degeneration, autosomal dominant 2
Synonyms
striatal degeneration, autosomal dominant; striatal degeneration, autosomal dominant 2; ADSD2; striatal degeneration, autosomal dominant caused by mutation in PDE10A; striatal Degeneration, autosomal dominant 2; striatal Degeneration, autosomal dominant type 2; ADSD2; PDE10A striatal degeneration, autosomal dominant
Definition Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene.
Disease Hierarchy
DISTLABZ: Striatal degeneration, autosomal dominant
DISBIK77: Striatal degeneration, autosomal dominant 2
Disease Identifiers
MONDO ID
MONDO_0014835
UMLS CUI
C4310791
OMIM ID
616922
MedGen ID
934758

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PDE10A TTJW4LU Strong Autosomal dominant [1]
PDE10A TTJW4LU Strong GermlineCausalMutation [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PDE10A OT74EK7Z Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2 De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. Am J Hum Genet. 2016 Apr 7;98(4):763-71. doi: 10.1016/j.ajhg.2016.02.015.