KEGG   DISEASE: Narcolepsy
H01293                      Disease                                
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.
Nervous system disease
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H01293  Narcolepsy
Human diseases in ICD-11 classification [BR:br08403]
 07 Sleep-wake disorders
  Hypersomnolence disorders
   7A20  Narcolepsy
    H01293  Narcolepsy
HCRT [HSA:3060] [KO:K05246]
MOG [HSA:4340] [KO:K17270]
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]
Other DBs
ICD-11: 7A20
ICD-10: G47.4
MeSH: D009290
OMIM: 161400 614250
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
A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains.
Nat Med 6:991-7 (2000)
Hor H, Bartesaghi L, Kutalik Z, Vicario JL, de Andres C, Pfister C, Lammers GJ, Guex N, Chrast R, Tafti M, Peraita-Adrados R
A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy.
Am J Hum Genet 89:474-9 (2011)
Kornum BR, Faraco J, Mignot E
Narcolepsy with hypocretin/orexin deficiency, infections and autoimmunity of the brain.
Curr Opin Neurobiol 21:897-903 (2011)
Hirai N, Nishino S
Recent advances in the treatment of narcolepsy.
Curr Treat Options Neurol 13:437-57 (2011)

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