| H01293 | |
| H number | H01293 |
| Name | Narcolepsy |
| Description | Narcolepsy is a disabling sleep disorder characterized by irresistible excessive daytime sleepiness and cataplexy, a condition triggered by strong emotions leading to a sudden loss of muscle tone. Narcolepsy is a rare and mainly sporadic disorder. Familial narcolepsy accounts for less than 10% of all narcolepsy cases, and causative mutations have not been identified to date. The discovery of hypocretin-1 (HCRT) deficiency shed light on the underlying pathophysiology of the disease. The hypocretin neurotransmission system was shown to play a major role in controlling vigilance states. Because of the strong HLA association, hypocretin deficiency is believed to be caused by an autoimmune attack. It has also been reported that a missense mutation in myelin oligodendrocyte glycoprotein (MOG) is the cause of narcolepsy. |
| Category | Nervous system disease |
| Network | - |
| Gene | (NRCLP1) HCRT [HSA:3060] [KO:K05246] (NRCLP7) MOG [HSA:4340] [KO:K17270] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Sodium oxybate [DR:D05866] Amphetamine sulfate [DR:D02074] Dextroamphetamine sulfate [DR:D02078] Methylphenidate hydrochloride [DR:D01296] Modafinil [DR:D01832] Armodafinil [DR:D03215] Solriamfetol hydrochloride [DR:D11328] Pitolisant hydrochloride [DR:D11490] Calcium oxybate, magnesium oxybate, potassium oxybate and sodium oxybate [DR:D12131] |
| Comment | - |
| Other DBs | ICD-11: 7A20 ICD-10: G47.4 MeSH: D009290 OMIM: 161400 614250 |
| Reference | PMID:21963829 AUTHORS Kornum BR, Faraco J, Mignot E TITLE Narcolepsy with hypocretin/orexin deficiency, infections and autoimmunity of the brain. JOURNAL Curr Opin Neurobiol 21:897-903 (2011) DOI:10.1016/j.conb.2011.09.003 PMID:21748548 AUTHORS Hirai N, Nishino S TITLE Recent advances in the treatment of narcolepsy. JOURNAL Curr Treat Options Neurol 13:437-57 (2011) DOI:10.1007/s11940-011-0137-6 PMID:10973318 (NRCLP1) AUTHORS Peyron C, Faraco J, Rogers W, Ripley B, Overeem S, Charnay Y, Nevsimalova S, Aldrich M, Reynolds D, Albin R, Li R, Hungs M, Pedrazzoli M, Padigaru M, Kucherlapati M, Fan J, Maki R, Lammers GJ, Bouras C, Kucherlapati R, Nishino S, Mignot E TITLE A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. JOURNAL Nat Med 6:991-7 (2000) DOI:10.1038/79690 PMID:21907016 (NRCLP7) AUTHORS Hor H, Bartesaghi L, Kutalik Z, Vicario JL, de Andres C, Pfister C, Lammers GJ, Guex N, Chrast R, Tafti M, Peraita-Adrados R TITLE A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy. JOURNAL Am J Hum Genet 89:474-9 (2011) DOI:10.1016/j.ajhg.2011.08.007 |