familial episodic pain syndrome 3

Term ID

DOID:0111731

Synonyms

• FEPS3

Definition

A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. https://www.ncbi.nlm.nih.gov/pubmed/24207120

References

• MIM:615552
• NCI:C125390
• ORDO:391392

Ontology

Human Disease   ( DOID:0111731 )