Details of Disease

General Information of Disease (ID: DISQVZFT)

• Disease Name: Autosomal recessive early-onset Parkinson disease 7
• Synonyms: Parkinson disease 7, autosomal recessive early-onset; autosomal recessive early-onset Parkinson's disease 7; PARK7; autosomal recessive early-onset Parkinson disease 7; Parkinson disease caused by mutation in PARK7; autosomal recessive early-onset Parkinson disease type 7; PARK7 Parkinson disease
• Definition: Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene.
• Disease Hierarchy:
  DISQVHKL: Parkinson disease
  DIS05LFS: Young-onset Parkinson disease
  DISQVZFT: Autosomal recessive early-onset Parkinson disease 7
• Disease Identifiers:
  MONDO ID: MONDO_0011658
  UMLS CUI: C1853445
  OMIM ID: 606324
  MedGen ID: 344049

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PARK7	DEPOVCH	Strong	Autosomal recessive	[1]
PARK7	DEPOVCH	Definitive	Biomarker	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PARK7	OT0SKNTG	Strong	Autosomal recessive	[1]
PINK1	OT50NR57	Strong	Biomarker	[3]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [2] BAG5 Interacts with DJ-1 and Inhibits the Neuroprotective Effects of DJ-1 to Combat Mitochondrial Oxidative Damage.Oxid Med Cell Longev. 2017;2017:5094934. doi: 10.1155/2017/5094934. Epub 2017 Mar 2.
• [3] A novel tyrosine hydroxylase variant in a group of Chinese patients with dopa-responsive dystonia.Int J Neurosci. 2017 Aug;127(8):694-700. doi: 10.1080/00207454.2016.1236381. Epub 2016 Oct 5.