Details of Disease | DrugMAP

General Information of Disease (ID: DISYC4IP)

Disease Name	Autosomal recessive Parkinson disease 14
Synonyms	autosomal recessive Parkinson's disease 14; Parkinson disease 14, autosomal recessive; adult-onset dystonia - parkinsonism; dystonia-Parkinsonism, adult-onset; dystonia-Parkinsonism Adult-onset; PLA2G6-related dystonia-parkinsonism; PARK14; PLA2G6 hereditary late onset Parkinson disease; autosomal recessive Parkinson disease type 14; hereditary late onset Parkinson disease caused by mutation in PLA2G6; dystonia-parkinsonism, Paisan-Ruiz type
Definition	A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
Disease Hierarchy	DIS9IOUI: Late-onset Parkinson disease DIS52D4D: PLA2G6-associated neurodegeneration DISYC4IP: Autosomal recessive Parkinson disease 14
Disease Identifiers	MONDO ID MONDO_0013060 MESH ID C567844 UMLS CUI C2751842 OMIM ID 612953 MedGen ID 414488 Orphanet ID 199351 SNOMED CT ID 720466001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP1A3	OTM8EG6H	Strong	Genetic Variation	[1]
PLA2G6	OT5FL0WU	Strong	Autosomal recessive	[2]
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References

1	Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.Brain Dev. 2018 Oct;40(9):768-774. doi: 10.1016/j.braindev.2018.05.008. Epub 2018 May 31.
2	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.