Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

familial episodic pain syndrome with predominantly lower limb involvement - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial episodic pain syndrome with predominantly lower limb involvement

MONDO:0014247

Also known as:episodic pain syndrome, familial, type 3FEPS3episodic pain syndrome, familial, 3

Overview

A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age.

GeneticsAutosomal dominant · SCN11A (chr 3)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Problems with involuntary body functions (abnormal autonomic nervous system physiology). 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Problems with involuntary body functions (abnormal autonomic nervous system physiology), Pain

Explore clinical features

Genetic Landscape

SCN11A function has not been fully characterized.

Familial episodic pain syndrome with predominantly lower limb involvement is associated with mutations in the SCN11A gene on chromosome 3.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for SCN11A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for familial episodic pain syndrome with predominantly lower limb involvement has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 familial episodic pain syndrome with predominantly lower limb involvement.

34 publications have been identified in PubMed for familial episodic pain syndrome with predominantly lower limb involvement. Research spans Case Report / Case Series (41%), Epidemiology / Natural History (16%), and Diagnostic / Biomarker (13%).

Research Type	Count	% of Total
Patient case studies	13	41%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615552

Orphanet

European rare disease database

Orphanet:391392

GARD

Genetic and Rare Diseases Info Center

GARD:17619

Questions for Your Care Team

→Should I pursue genetic testing for SCN11A, 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?

← Back to All Diseases

familial episodic pain syndrome with predominantly lower limb involvement

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications