primary erythermalgia
Findings
No curated finding names primary erythermalgia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.
Definition from the Mondo Disease Ontology (MONDO:0007571), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
14 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.
- ErythemaHPOHP:0010783
- Very frequent (80% to 99% of cases)
- ErythromelalgiaHPOHP:0032147
- Very frequent (80% to 99% of cases)
- Peripheral neuropathyHPOHP:0009830
- Very frequent (80% to 99% of cases)
- PruritusHPOHP:0000989
- Frequent (30% to 79% of cases)
- Abnormality of thrombocytesHPOHP:0001872
- Occasional (5% to 29% of cases)
- AllodyniaHPOHP:0012533
- Occasional (5% to 29% of cases)
- Decreased/absent ankle reflexes
Show the remaining 2
- Recurrent respiratory infectionsHPOHP:0002205
- Occasional (5% to 29% of cases)
- VasculitisHPOHP:0002633
- 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.
- SCN9AHGNC:10597
- Definitive · G2P · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: primary erythermalgia
- Also called
- PERYTHMprimary erythromelalgia