autosomal recessive early-onset Parkinson disease 7
Findings
No curated finding names autosomal recessive early-onset Parkinson disease 7 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 PARK7 gene.
Definition from the Mondo Disease Ontology (MONDO:0011658), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Adult onset · Slowly progressive
HPO, annotations 2026-09-02
Features
11 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.
- AnxietyHPOHP:0000739
- 2 of 2 reported patients
- BradykinesiaHPOHP:0002067
- 4 of 4 reported patients
- Parkinsonism with favorable response to dopaminergic medicationHPOHP:0002548
- 4 of 4 reported patients
- RigidityHPOHP:0002063
- 4 of 4 reported patients
- Brisk reflexesHPOHP:0001348
- 3 of 4 reported patients
- Postural tremorHPOHP:0002174
- 3 of 4 reported patients
- DyskinesiaHPOHP:0100660
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.
- PARK7HGNC:16369
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: autosomal recessive early-onset Parkinson disease 7
- Also called
- autosomal recessive early-onset Parkinson disease type 7PARK7 Parkinson diseaseParkinson disease caused by mutation in PARK7