paroxysmal extreme pain disorder
Findings
No curated finding names paroxysmal extreme pain disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation.
Definition from the Mondo Disease Ontology (MONDO:0008179), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
6 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.
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- Anal painHPOHP:0500005
- FlushingHPOHP:0031284
- Mandibular painHPOHP:0200025
- Ocular painHPOHP:0200026
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.
- SCN9AHGNC:10597
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: paroxysmal extreme pain disorder
- Also called
- familial rectal pain