familial episodic pain syndrome 1 (DOID:0111729)
Alliance: disease page
Synonyms: FEPS1
Alt IDs: OMIM:615040, ORDO:391389
Definition: A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13.