paroxysmal extreme pain disorder

Term ID

DOID:0111537

Synonyms

• familial rectal pain
• PEPD
• PEXPD
• submandibular, ocular and rectal pain with flushing

Definition

An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3. (2)

References

• GARD:12854
• MESH:C563475
• NCI:C125385
• OMIM:167400
• ORDO:46348
• SNOMEDCT_US_2023_03_01:699190008
• UMLS_CUI:C1833661

Ontology

Human Disease   ( DOID:0111537 )