Details of Disease

General Information of Disease (ID: DIS45E1R)

• Disease Name: Autosomal recessive early-onset Parkinson disease 23
• Synonyms: autosomal recessive early-onset Parkinson's disease 23; autosomal recessive early-onset Parksinson disease type 23; PARK23; Parkinson disease 23, autosomal recessive early-onset; young-onset Parkinson disease caused by mutation in VPS13C; VPS13C young-onset Parkinson disease; autosomal recessive early-onset Parkinson disease 23; Parkinson disease 23, autosomal recessive, early onset
• Definition: Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene.
• Disease Hierarchy:
  DIS05LFS: Young-onset Parkinson disease
  DIS45E1R: Autosomal recessive early-onset Parkinson disease 23
• Disease Identifiers:
  MONDO ID: MONDO_0014796
  UMLS CUI: C4225186
  OMIM ID: 616840
  MedGen ID: 896607

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VPS13C	OT5GHC9K	Strong	Autosomal recessive	[1]

References

• [1] Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. Am J Hum Genet. 2016 Mar 3;98(3):500-513. doi: 10.1016/j.ajhg.2016.01.014.