autosomal recessive early-onset Parkinson disease 23
Findings
No curated finding names autosomal recessive early-onset Parkinson disease 23 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene.
Definition from the Mondo Disease Ontology (MONDO:0014796), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Progressive · Young adult onset
HPO, annotations 2026-09-02
Features
27 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.
- AkinesiaHPOHP:0002304
- 3 of 3 reported patients
- DementiaHPOHP:0000726
- 3 of 3 reported patients
- Lewy bodiesHPOHP:0100315
- 1 of 1 reported patient
- Loss of ambulationHPOHP:0002505
- 3 of 3 reported patients
- Mental deteriorationHPOHP:0001268
- 3 of 3 reported patients
- Neurofibrillary tanglesHPOHP:0002185
- 1 of 1 reported patient
- Neuronal loss in central nervous systemHPOHP:0002529
Show the remaining 15
- FallsHPOHP:0002527
- 2 of 3 reported patients
- Freezing of gaitHPOHP:0031825
- 2 of 3 reported patients
- Limb dystoniaHPOHP:0002451
- 2 of 3 reported patients
- Abnormal pyramidal signHPOHP:0007256
- 1 of 3 reported patients
- ApathyHPOHP:0000741
- 1 of 3 reported patients
- CachexiaHPOHP:0004326
- 1 of 3 reported patients
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.
- VPS13CHGNC:23594
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: autosomal recessive early-onset Parkinson disease 23
- Also called
- autosomal recessive early-onset Parksinson disease type 23PARK23Parkinson disease 23, autosomal recessive early-onsetParkinson disease 23, autosomal recessive, early onsetVPS13C young-onset Parkinson diseaseyoung-onset Parkinson disease caused by mutation in VPS13C