Details of Disease | DrugMAP

General Information of Disease (ID: DIS1771N)

Disease Name	Parkinson disease 5, autosomal dominant, susceptibility to
Synonyms	PARK5; susceptibility to autosomal dominant Parkinson disease 5; Parkinson disease 5, susceptibility to; young-onset Parkinson disease caused by mutation in UCHL1; UCHL1 young-onset Parkinson disease; Parkinson disease 5, autosomal dominant, susceptibility to
Definition	An inherited susceptibility or predisposition to developing young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene.
Disease Hierarchy	DIS98MYE: Inherited disease susceptibility DIS1771N: Parkinson disease 5, autosomal dominant, susceptibility to
Disease Identifiers	MONDO ID MONDO_0013340 UMLS CUI C3150899 OMIM ID 613643 MedGen ID 462249

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
UCHL1	OTTCHLRJ	Limited	Autosomal dominant	[1]
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This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
UCHL1	TTX9IFP	Limited	Autosomal dominant	[1]
UCHL1	TTX9IFP	moderate	Genetic Variation	[2]
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References

1	Dopaminergic neuronal loss in transgenic mice expressing the Parkinson's disease-associated UCH-L1 I93M mutant. Neurochem Int. 2007 Jan;50(1):119-29. doi: 10.1016/j.neuint.2006.07.015. Epub 2006 Sep 11.
2	Alterations of structure and hydrolase activity of parkinsonism-associated human ubiquitin carboxyl-terminal hydrolase L1 variants.Biochem Biophys Res Commun. 2003 Apr 25;304(1):176-83. doi: 10.1016/s0006-291x(03)00555-2.