| H00771 | |
| H number | H00771 |
| Name | Inherited erythromelalgia; Primary erythromelalgia |
| Description | 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. |
| Category | Skin disease |
| Network | - |
| Gene | SCN9A [HSA:6335] [KO:K04841] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EG00 ICD-10: I73.8 MeSH: D004916 OMIM: 133020 |
| 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 |