Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene.
Features include always present findings: Resting tremor, Muscle stiffness (rigidity), Neurofibrillary tangles, and Slurred speech and others; and common findings: Freezing of gait, Cerebral cortical atrophy, Urinary incontinence, and Problems with involuntary body functions (abnormal autonomic nervous system physiology) and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 17 | Resting tremor, Freezing of gait, Cerebral cortical atrophy |
Muscles | 3 | Cerebral cortical atrophy, Falls, Loss of ambulation |
Kidneys and urinary system | 1 | Urinary incontinence |
Digestive system | 1 | Difficulty swallowing (dysphagia) |
Arms and legs | 1 | Limb dystonia |
Bones and joints | 1 | Postural instability |
Growth and development | 1 | Cachexia |
VPS13C function has not been fully characterized.
Autosomal recessive early-onset Parkinson disease 23 is associated with mutations in the VPS13C gene on chromosome 15.
Genetic testing for VPS13C is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for autosomal recessive early-onset Parkinson disease 23 has been reported in the published literature.
Phenotype severity distribution: 11 always present features, 16 common features.
No clinical trials have been registered for autosomal recessive early-onset Parkinson disease 23.
6 publications have been identified in PubMed for autosomal recessive early-onset Parkinson disease 23. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Review / Meta-Analysis (17%).
Li XT (2026). [PMID: 42158583](https://pubmed.ncbi.nlm.nih.gov/42158583/). *Front Hum Neurosci*. [Case Report / Case Series]
Jiang Y (2026). [PMID: 41517720](https://pubmed.ncbi.nlm.nih.gov/41517720/). *Medicine (Baltimore)*. [Review / Meta-Analysis]
Pan LY (2026). [PMID: 42204920](https://pubmed.ncbi.nlm.nih.gov/42204920/). *Brain Behav*. [Epidemiology / Natural History]
Poleg T (2025). [PMID: 40492975](https://pubmed.ncbi.nlm.nih.gov/40492975/). *Mov Disord*. [Case Report / Case Series]
Daida K (2025). [PMID: 39699073](https://pubmed.ncbi.nlm.nih.gov/39699073/). *Ann Neurol*. [Diagnostic / Biomarker]
Daida K (2024). [PMID: 39108517](https://pubmed.ncbi.nlm.nih.gov/39108517/). *medRxiv*. [Diagnostic / Biomarker]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:55 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center