H00688 | |
H number | H00688 |
Name | Familial advanced sleep phase syndrome |
Description | Familial advanced sleep phase syndrome (FASPS) is characterized by a stable sleep schedule with a 4-hour advance than the conventional or desired time. FASPS is associated with mutations in PER2, whose level oscillates with a nearly 24 hour period. Recently, it has been reported that FASPS is also caused by mutations in CSNK1D gene and PER3 gene. |
Category | Nervous system disease |
Network | - |
Gene | (FASPS1) PER2 [HSA:8864] [KO:K02633] (FASPS2) CSNK1D [HSA:1453] [KO:K08959] (FASPS3) PER3 [HSA:8863] [KO:K21945] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 7A61 ICD-10: G47 MeSH: C565789 OMIM: 604348 615224 616882 |
Reference | PMID:21929966 AUTHORS Barion A TITLE Circadian rhythm sleep disorders. JOURNAL Dis Mon 57:423-37 (2011) DOI:10.1016/j.disamonth.2011.06.003 PMID:18845459 AUTHORS Bjorvatn B, Pallesen S TITLE A practical approach to circadian rhythm sleep disorders. JOURNAL Sleep Med Rev 13:47-60 (2009) DOI:10.1016/j.smrv.2008.04.009 PMID:10470086 AUTHORS Jones CR, Campbell SS, Zone SE, Cooper F, DeSano A, Murphy PJ, Jones B, Czajkowski L, Ptacek LJ TITLE Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans. JOURNAL Nat Med 5:1062-5 (1999) DOI:10.1038/12502 PMID:11232563 AUTHORS Toh KL, Jones CR, He Y, Eide EJ, Hinz WA, Virshup DM, Ptacek LJ, Fu YH TITLE An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. JOURNAL Science 291:1040-3 (2001) DOI:10.1126/science.1057499 PMID:23636092 AUTHORS Brennan KC, Bates EA, Shapiro RE, Zyuzin J, Hallows WC, Huang Y, Lee HY, Jones CR, Fu YH, Charles AC, Ptacek LJ TITLE Casein kinase idelta mutations in familial migraine and advanced sleep phase. JOURNAL Sci Transl Med 5:183ra56, 1-11 (2013) DOI:10.1126/scitranslmed.3005784 PMID:26903630 AUTHORS Zhang L, Hirano A, Hsu PK, Jones CR, Sakai N, Okuro M, McMahon T, Yamazaki M, Xu Y, Saigoh N, Saigoh K, Lin ST, Kaasik K, Nishino S, Ptacek LJ, Fu YH TITLE A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait. JOURNAL Proc Natl Acad Sci U S A 113:E1536-44 (2016) DOI:10.1073/pnas.1600039113 |