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episodic pain syndrome, familial, 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

episodic pain syndrome, familial, 2

MONDO:0014246

Also known as:SCN10A familial episodic pain syndromeepisodic pain syndrome, familial, type 2familial episodic pain syndrome caused by mutation in SCN10A

Overview

Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene.

GeneticsAutosomal dominant · SCN10A (chr 3)

Clinical Presentation

Features include always present findings: Dysesthesia.

Explore clinical features

Genetic Landscape

SCN10A function has not been fully characterized.

Episodic pain syndrome, familial, 2 is associated with mutations in the SCN10A gene on chromosome 3.

Diagnosis

Genetic testing for SCN10A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for episodic pain syndrome, familial, 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for episodic pain syndrome, familial, 2.

32 publications have been identified in PubMed for episodic pain syndrome, familial, 2. Research spans Case Report / Case Series (52%), Epidemiology / Natural History (26%), and Diagnostic / Biomarker (10%).

Research Type	Count	% of Total
Patient case studies	16	52%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615551

GARD

Genetic and Rare Diseases Info Center

GARD:18440

Questions for Your Care Team

→Should I pursue genetic testing for SCN10A, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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episodic pain syndrome, familial, 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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