| H00772 | |
| H number | H00772 |
| Name | Paroxysmal extreme pain disorder |
| Description | Paroxysmal extreme pain disorder (PEPD) is an autosomal dominant pain disorder resulting from a set of gain-of-function mutations in SCN9A, the gene encoding Nav1.7, that impair inactivation of Nav1.7. Severe pain in PEPD patients along with flushing is induced by bowel movement or probing of the perianal areas, and is sometimes accompanied by tonic nonepileptic seizures and cardiac deficits. The pain attacks are most severe in the lower part of the body and are often triggered by temperature changes (such as cold winds), eating, and/or emotional upsets (such as crying). |
| Category | Nervous system disease |
| Network | - |
| Gene | SCN9A [HSA:6335] [KO:K04841] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8E43.Y MeSH: C563475 OMIM: 167400 |
| Reference | PMID:19005038 AUTHORS Catterall WA, Dib-Hajj S, Meisler MH, Pietrobon D TITLE Inherited neuronal ion channelopathies: new windows on complex neurological diseases. JOURNAL J Neurosci 28:11768-77 (2008) DOI:10.1523/JNEUROSCI.3901-08.2008 PMID:19185186 AUTHORS Dib-Hajj SD, Yang Y, Waxman SG TITLE Genetics and molecular pathophysiology of Na(v)1.7-related pain syndromes. JOURNAL Adv Genet 63:85-110 (2008) DOI:10.1016/S0065-2660(08)01004-3 PMID:20146699 AUTHORS Fischer TZ, Waxman SG TITLE Familial pain syndromes from mutations of the NaV1.7 sodium channel. JOURNAL Ann N Y Acad Sci 1184:196-207 (2010) DOI:10.1111/j.1749-6632.2009.05110.x |