| H00772 | |
| H番号 | H00772 |
| 名称 | 発作性激痛症 |
| 概要 | 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). |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | SCN9A [HSA:6335] [KO:K04841] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8E43.Y MeSH: C563475 OMIM: 167400 |
| 文献 | PMID:19005038 著者 Catterall WA, Dib-Hajj S, Meisler MH, Pietrobon D タイトル Inherited neuronal ion channelopathies: new windows on complex neurological diseases. 雑誌 J Neurosci 28:11768-77 (2008) DOI:10.1523/JNEUROSCI.3901-08.2008 PMID:19185186 著者 Dib-Hajj SD, Yang Y, Waxman SG タイトル Genetics and molecular pathophysiology of Na(v)1.7-related pain syndromes. 雑誌 Adv Genet 63:85-110 (2008) DOI:10.1016/S0065-2660(08)01004-3 PMID:20146699 著者 Fischer TZ, Waxman SG タイトル Familial pain syndromes from mutations of the NaV1.7 sodium channel. 雑誌 Ann N Y Acad Sci 1184:196-207 (2010) DOI:10.1111/j.1749-6632.2009.05110.x |