Parkinson disease 5, autosomal dominant, susceptibility to
Findings
No curated finding names Parkinson disease 5, autosomal dominant, susceptibility to yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0013340), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BradykinesiaHPOHP:0002067
- Parkinsonism with favorable response to dopaminergic medicationHPOHP:0002548
- Postural instabilityHPOHP:0002172
- RigidityHPOHP:0002063
Genes
1 gene
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.
- UCHL1HGNC:12513
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: Parkinson disease 5, autosomal dominant, susceptibility to
- Also called
- Parkinson disease 5, susceptibility toUCHL1 young-onset Parkinson diseaseyoung-onset Parkinson disease caused by mutation in UCHL1