| H00774 | |
| H番号 | H00774 |
| 名称 | 先天性無痛覚 |
| 概要 | Congenital insensitivity to pain (CIP) is condition affecting pain sensation and olfaction. A loss-of-function of the SCN9A, the gene encoding Nav1.7, can produce CIP. Patients with Nav1.7-related CIP present with a history of not ever experiencing any pain even after burns, bone fractures, lip- and tongue-biting, and they do not experience visceral pain. Additionally, patients with Nav1.7-related CIP do not show apparent sympathetic dysfunction and have a normal axon reflex response to histamine. Homozygous and compound null mutations in SCN9A are predicted to truncate the channel protein, resulting in loss-of-function mutations in Nav1.7 and the complete loss of Nav1.7 current in all of the neurons in which this channel is expressed. Marsili syndrome(MARSIS) is an autosomal dominant congenital insensitivity to pain, caused by mutations in ZFHX2 gene. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (CIP) SCN9A [HSA:6335] [KO:K04841] (MARSIS) ZFHX2 [HSA:85446] [KO:K09379] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8C21.3 ICD-10: G60.8 MeSH: D000699 OMIM: 243000 147430 |
| 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 PMID:29253101 (MARSIS) 著者 Habib AM, Matsuyama A, Okorokov AL, Santana-Varela S, Bras JT, Aloisi AM, Emery EC, Bogdanov YD, Follenfant M, Gossage SJ, Gras M, Humphrey J, Kolesnikov A, Le Cann K, Li S, Minett MS, Pereira V, Ponsolles C, Sikandar S, Torres JM, Yamaoka K, Zhao J, Komine Y, Yamamori T, Maniatis N, Panov KI, Houlden H, Ramirez JD, Bennett DLH, Marsili L, Bachiocco V, Wood JN, Cox JJ タイトル A novel human pain insensitivity disorder caused by a point mutation in ZFHX2. 雑誌 Brain 141:365-376 (2018) DOI:10.1093/brain/awx326 |