General Information of Disease (ID: DIS6PY08)

Disease Name Parkinson disease 22, autosomal dominant
Synonyms Parkinson disease 22, autosomal dominant; PARK22; Parkinson disease caused by mutation in CHCHD2; Parkinson disease 22, autosomal dominant; CHCHD2 Parkinson disease; PARK22
Definition Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene.
Disease Hierarchy
DIS9IOUI: Late-onset Parkinson disease
DISQVHKL: Parkinson disease
DIS6PY08: Parkinson disease 22, autosomal dominant
Disease Identifiers
MONDO ID
MONDO_0014742
UMLS CUI
C4225238
OMIM ID
616710
MedGen ID
907886

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CHCHD2 OTL5PA3Y Strong Autosomal dominant [1]
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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.