Details of Disease | DrugMAP

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]
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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]
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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.