KEGG   DISEASE: Familial advanced sleep phase syndromeHelp
Entry
H00688                      Disease                                

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 CSKD1D gene and PER3 gene.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00688  Familial advanced sleep phase syndrome
Human diseases in ICD-11 classification [BR:br08403]
 07 Sleep-wake disorders
  Circadian rhythm sleep-wake disorders
   7A61  Advanced sleep-wake phase disorder
    H00688  Familial advanced sleep phase syndrome
BRITE hierarchy
Pathway
hsa04710  Circadian rhythm
Gene
(FASPS1) PER2 [HSA:8864] [KO:K02633]
(FASPS2) CSNK1D [HSA:1453] [KO:K08959]
(FASPS3) PER3 [HSA:8863] [KO:K21945]
Other DBs
ICD-11: 7A61
ICD-10: G47
MeSH: C565789
OMIM: 604348 615224 616882
Reference
  Authors
Barion A
  Title
Circadian rhythm sleep disorders.
  Journal
Dis Mon 57:423-37 (2011)
DOI:10.1016/j.disamonth.2011.06.003
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
LinkDB All DBs

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