H00774 | |
H number | H00774 |
Name | Congenital insensitivity to pain |
Description | 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. |
Category | Nervous system disease |
Network | - |
Gene | (CIP) SCN9A [HSA:6335] [KO:K04841] (MARSIS) ZFHX2 [HSA:85446] [KO:K09379] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 8C21.3 ICD-10: G60.8 MeSH: D000699 OMIM: 243000 147430 |
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 PMID:29253101 (MARSIS) AUTHORS 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 TITLE A novel human pain insensitivity disorder caused by a point mutation in ZFHX2. JOURNAL Brain 141:365-376 (2018) DOI:10.1093/brain/awx326 |