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

Rare Disease

familial episodic pain syndrome with predominantly upper body involvement

MONDO:0014021

Also known as:episodic pain syndrome, familial, type 1FEPS1episodic pain syndrome, familial, 1

Overview

GeneticsAutosomal dominant · TRPA1 (chr 8)

Clinical Presentation

Features include: Episodic pain.

Explore clinical features

Genetic Landscape

TRPA1 function has not been fully characterized.

Familial episodic pain syndrome with predominantly upper body involvement is associated with mutations in the TRPA1 gene on chromosome 8.

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 TRPA1 is available. Testing is considered confirmatory for diagnosis.

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

Prognosis

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 upper body involvement.

35 publications have been identified in PubMed for familial episodic pain syndrome with predominantly upper body involvement. Research spans Case Report / Case Series (47%), Review / Meta-Analysis (18%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Patient case studies	16	47%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 10:26 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615040

Orphanet

European rare disease database

Orphanet:391389

GARD

Genetic and Rare Diseases Info Center

GARD:17618

Questions for Your Care Team

→Should I pursue genetic testing for TRPA1, 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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familial episodic pain syndrome with predominantly upper body 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

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