familial episodic pain syndrome 1

Term ID

DOID:0111729

Synonyms

• FEPS1

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. https://www.ncbi.nlm.nih.gov/pubmed/20547126

References

• MIM:615040
• ORDO:391389

Ontology

Human Disease   ( DOID:0111729 )