episodic pain syndrome, familial, 2
Findings
No curated finding names episodic pain syndrome, familial, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene.
Definition from the Mondo Disease Ontology (MONDO:0014246), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
1 feature
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.
- DysesthesiaHPOHP:0012534
- 3 of 3 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.
- SCN10AHGNC:10582
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- No Known Disease Relationship · Illumina · Autosomal dominant · 2019
Where it sits
- A kind of
Other names
3 names
Resolves to: episodic pain syndrome, familial, 2
- Also called
- episodic pain syndrome, familial, type 2familial episodic pain syndrome caused by mutation in SCN10ASCN10A familial episodic pain syndrome