Parkinson disease 22, autosomal dominant
Findings
No curated finding names Parkinson disease 22, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014742), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset
HPO, annotations 2026-09-02
Features
13 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.
- Gait disturbanceHPOHP:0001288
- 12 of 12 reported patients
- BradykinesiaHPOHP:0002067
- 10 of 12 reported patients
- Resting tremorHPOHP:0002322
- 10 of 12 reported patients
- RigidityHPOHP:0002063
- 10 of 12 reported patients
- Parkinsonism with favorable response to dopaminergic medicationHPOHP:0002548
- 8 of 12 reported patients
- ConstipationHPOHP:0002019
- 6 of 12 reported patients
- Postural instabilityHPO
Show the remaining 1
- Restless legsHPOHP:0012452
- 0 of 12 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.
- CHCHD2HGNC:21645
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: Parkinson disease 22, autosomal dominant
- Also called
- CHCHD2 Parkinson diseasePARK22Parkinson disease 22, autosomal dominant; PARK22Parkinson disease caused by mutation in CHCHD2