Parkinson disease
Findings
No curated finding names Parkinson disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.
Definition from the Mondo Disease Ontology (MONDO:0005180), read 2026-09-29. CC BY 4.0.
Genes
11 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GBA1HGNC:4177
- Definitive · ClinGen · Autosomal dominant · 2022
- Definitive · Natera · Autosomal dominant · 2026
- LRRK2HGNC:18618
- Definitive · ClinGen · Autosomal dominant · 2021
- PARK7HGNC:16369
- Definitive · ClinGen · Autosomal recessive · 2022
- PINK1HGNC:14581
- Definitive · ClinGen · Autosomal recessive · 2023
- PRKNHGNC:8607
- Definitive · ClinGen · Autosomal recessive · 2023
- SNCAHGNC:11138
- Definitive · Ambry Genetics · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: Parkinson disease
- Also called
- paralysis agitansParkinson's diseasePD