| H00771 | |
| H番号 | H00771 |
| 名称 | 原発性紅痛症 |
| 概要 | Inherited erythromelalgia (IEM) is characterized by intense episodic burning pain associated with redness and warmth of the affected extremities and in many instances occurs as an autosomal dominant trait. Symptoms of IEM can start as early as 1 year old (early-onset), or in adults (adult-onset), and both types have been described in families and in sporadic cases. Pharmacotherapy has been largely ineffective, and partial relief of symptoms comes from cooling the affected extremities. Dominantly inherited gain-of-function mutations in SCN9A, the gene encoding Nav1.7, cause IEM. |
| カテゴリ | 皮膚疾患 |
| 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: EG00 ICD-10: I73.8 MeSH: D004916 OMIM: 133020 |
| 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 |