autosomal recessive juvenile Parkinson disease 2
Findings
No curated finding names autosomal recessive juvenile Parkinson disease 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see Parkinson disease), secondary parkinsonism (see Parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia.
Definition from the Mondo Disease Ontology (MONDO:0010820), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset · Early young adult onset · Late young adult onset
HPO, annotations 2026-09-02
Features
22 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
- 10 of 10 reported patients
- Gait disturbanceHPOHP:0001288
- 3 of 3 reported patients
- HyperreflexiaHPOHP:0001347
- 3 of 3 reported patients
- HypokinesiaHPOHP:0002375
- 3 of 3 reported patients
- ParkinsonismHPOHP:0001300
- 13 of 13 reported patients
- Pill-rolling tremorHPOHP:0025387
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.
- PRKNHGNC:8607
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: autosomal recessive juvenile Parkinson disease 2
- Also called
- autosomal recessive juvenile Parkinson disease type 2Parkinson disease, juvenile, type 2PRKN young-onset Parkinson diseaseyoung-onset Parkinson disease caused by mutation in PRKN