DISEASES

Disease-gene associations mined from literature

Human genes for paroxysmal extreme pain disorder

Paroxysmal extreme pain disorder [DOID:0111537]

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 SCN9A on chromosome 2q24.3.

Synonyms:  paroxysmal extreme pain disorder,  DOID:0111537,  paroxysmal extreme pain disease,  paroxysmal extreme pain syndrome,  paroxysmal extreme pain disorders ...