Perry syndrome
Findings
No curated finding names Perry syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.
Definition from the Mondo Disease Ontology (MONDO:0008201), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
22 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.
- AkinesiaHPOHP:0002304
- 6 of 6 reported patients
- ParkinsonismHPOHP:0001300
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Primitive reflexHPOHP:0002476
- 3 of 3 reported patients
- RigidityHPOHP:0002063
- 6 of 6 reported patients
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- Very frequent (80% to 99% of cases)
- ApathyHPOHP:0000741
- 4 of 5 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 10
- Respiratory arrestHPOHP:0005943
- 3 of 6 reported patients
- DisinhibitionHPOHP:0000734
- 2 of 5 reported patients
- HyperoralityHPOHP:0000710
- 2 of 5 reported patients
- DementiaHPOHP:0000726
- Occasional (5% to 29% of cases)
- HypotensionHPOHP:0002615
- Occasional (5% to 29% of cases)
- Personality changesHPOHP:0000751
- Occasional (5% to 29% of cases)
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.
- DCTN1HGNC:2711
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: Perry syndrome
- Also called
- Parkinsonism with alveolar hypoventilation and mental depression