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Familial advanced sleep phase syndrome 1(FASPS1)

MedGen UID:
813657
Concept ID:
C3807327
Disease or Syndrome
Synonyms: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1; FASPS1
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): PER2 (2q37.3)
OMIM®: 604348

Definition

Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by Jones et al., 1999). Genetic Heterogeneity of Advanced Sleep Phase Syndrome See also FASPS2 (615224), caused by mutation in the CSNK1D gene (600864) on chromosome 17q25, and FASPS3 (616882), caused by mutation in the PER3 gene (603427) on chromosome 1p36. [from GTR]

Additional description

From OMIM
Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by Jones et al., 1999). Genetic Heterogeneity of Advanced Sleep Phase Syndrome See also FASPS2 (615224), caused by mutation in the CSNK1D gene (600864) on chromosome 17q25, and FASPS3 (616882), caused by mutation in the PER3 gene (603427) on chromosome 1p36.  http://www.omim.org/entry/604348

Clinical features

Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure.
Sleep-wake cycle disturbance
MedGen UID:
371548
Concept ID:
C1833362
Finding

Recent clinical studies

Etiology

Baiardi S, Cirignotta F, Cicolin A, Garbazza C, D'Agostino A, Gambini O, Giordano A, Canevini M, Zambrelli E, Marconi AM, Mondini S, Borgwardt S, Cajochen C, Rizzo N, Manconi M
BMC Psychiatry 2016 Nov 4;16(1):374. doi: 10.1186/s12888-016-1086-0. PMID: 27814712Free PMC Article
Takaesu Y, Inoue Y, Murakoshi A, Komada Y, Otsuka A, Futenma K, Inoue T
PLoS One 2016;11(7):e0159578. Epub 2016 Jul 21 doi: 10.1371/journal.pone.0159578. PMID: 27442503Free PMC Article
Chen YL, Gau SS
J Sleep Res 2016 Aug;25(4):458-65. Epub 2016 Feb 8 doi: 10.1111/jsr.12388. PMID: 26854132
Fang MZ, Ohman-Strickland P, Kelly-McNeil K, Kipen H, Crabtree BF, Lew JP, Zarbl H
Sleep Med 2015 Nov;16(11):1388-1394. Epub 2015 Jul 23 doi: 10.1016/j.sleep.2015.06.011. PMID: 26498241Free PMC Article
Ebisawa T
J Pharmacol Sci 2007 Feb;103(2):150-4. Epub 2007 Feb 14 PMID: 17299246

Diagnosis

Takaesu Y, Inoue Y, Murakoshi A, Komada Y, Otsuka A, Futenma K, Inoue T
PLoS One 2016;11(7):e0159578. Epub 2016 Jul 21 doi: 10.1371/journal.pone.0159578. PMID: 27442503Free PMC Article
Taniyama Y, Nakamura A, Yamauchi T, Takeuchi S, Kuroda Y
J UOEH 2015 Mar 1;37(1):1-10. doi: 10.7888/juoeh.37.1. PMID: 25787096
Luojus MK, Lehto SM, Tolmunen T, Erkkilä AT, Kauhanen J
BMC Public Health 2014 Mar 31;14:295. doi: 10.1186/1471-2458-14-295. PMID: 24684747Free PMC Article
Mendlewicz J
CNS Drugs 2009;23 Suppl 2:15-26. doi: 10.2165/11318630-000000000-00000. PMID: 19708722
Meltzer LJ
J Pediatr Psychol 2008 May;33(4):380-6. Epub 2008 Feb 4 doi: 10.1093/jpepsy/jsn005. PMID: 18250091

Therapy

Kjeldsen JS, Hjorth MF, Andersen R, Michaelsen KF, Tetens I, Astrup A, Chaput JP, Sjödin A
Int J Obes (Lond) 2014 Jan;38(1):32-9. Epub 2013 Aug 8 doi: 10.1038/ijo.2013.147. PMID: 23924757
van Maanen A, Meijer AM, Smits MG, Oort FJ
Sleep Med 2011 Oct;12(9):875-9. Epub 2011 Sep 16 doi: 10.1016/j.sleep.2011.03.019. PMID: 21925946
Wasdell MB, Jan JE, Bomben MM, Freeman RD, Rietveld WJ, Tai J, Hamilton D, Weiss MD
J Pineal Res 2008 Jan;44(1):57-64. doi: 10.1111/j.1600-079X.2007.00528.x. PMID: 18078449
Morgenthaler TI, Owens J, Alessi C, Boehlecke B, Brown TM, Coleman J Jr, Friedman L, Kapur VK, Lee-Chiong T, Pancer J, Swick TJ; American Academy of Sleep Medicine.
Sleep 2006 Oct;29(10):1277-81. PMID: 17068980
Skuladottir A, Thome M
Pediatr Nurs 2003 Sep-Oct;29(5):375-8. PMID: 14651310

Prognosis

Baiardi S, Cirignotta F, Cicolin A, Garbazza C, D'Agostino A, Gambini O, Giordano A, Canevini M, Zambrelli E, Marconi AM, Mondini S, Borgwardt S, Cajochen C, Rizzo N, Manconi M
BMC Psychiatry 2016 Nov 4;16(1):374. doi: 10.1186/s12888-016-1086-0. PMID: 27814712Free PMC Article
Takaesu Y, Inoue Y, Murakoshi A, Komada Y, Otsuka A, Futenma K, Inoue T
PLoS One 2016;11(7):e0159578. Epub 2016 Jul 21 doi: 10.1371/journal.pone.0159578. PMID: 27442503Free PMC Article
Chen YL, Gau SS
J Sleep Res 2016 Aug;25(4):458-65. Epub 2016 Feb 8 doi: 10.1111/jsr.12388. PMID: 26854132
Sivertsen B, Harvey AG, Pallesen S, Hysing M
J Sleep Res 2015 Feb;24(1):11-8. Epub 2014 Oct 31 doi: 10.1111/jsr.12254. PMID: 25358244
Luojus MK, Lehto SM, Tolmunen T, Erkkilä AT, Kauhanen J
BMC Public Health 2014 Mar 31;14:295. doi: 10.1186/1471-2458-14-295. PMID: 24684747Free PMC Article

Clinical prediction guides

Baiardi S, Cirignotta F, Cicolin A, Garbazza C, D'Agostino A, Gambini O, Giordano A, Canevini M, Zambrelli E, Marconi AM, Mondini S, Borgwardt S, Cajochen C, Rizzo N, Manconi M
BMC Psychiatry 2016 Nov 4;16(1):374. doi: 10.1186/s12888-016-1086-0. PMID: 27814712Free PMC Article
Chen YL, Gau SS
J Sleep Res 2016 Aug;25(4):458-65. Epub 2016 Feb 8 doi: 10.1111/jsr.12388. PMID: 26854132
Fang MZ, Ohman-Strickland P, Kelly-McNeil K, Kipen H, Crabtree BF, Lew JP, Zarbl H
Sleep Med 2015 Nov;16(11):1388-1394. Epub 2015 Jul 23 doi: 10.1016/j.sleep.2015.06.011. PMID: 26498241Free PMC Article
Sivertsen B, Harvey AG, Pallesen S, Hysing M
J Sleep Res 2015 Feb;24(1):11-8. Epub 2014 Oct 31 doi: 10.1111/jsr.12254. PMID: 25358244
Mendlewicz J
CNS Drugs 2009;23 Suppl 2:15-26. doi: 10.2165/11318630-000000000-00000. PMID: 19708722

Recent systematic reviews

LeBourgeois MK, Hale L, Chang AM, Akacem LD, Montgomery-Downs HE, Buxton OM
Pediatrics 2017 Nov;140(Suppl 2):S92-S96. doi: 10.1542/peds.2016-1758J. PMID: 29093040Free PMC Article
Semple A
Pract Midwife 2010 Oct;13(9):17-20. PMID: 21138130
Bendz LM, Scates AC
Ann Pharmacother 2010 Jan;44(1):185-91. Epub 2009 Dec 22 doi: 10.1345/aph.1M365. PMID: 20028959
Morgenthaler TI, Owens J, Alessi C, Boehlecke B, Brown TM, Coleman J Jr, Friedman L, Kapur VK, Lee-Chiong T, Pancer J, Swick TJ; American Academy of Sleep Medicine.
Sleep 2006 Oct;29(10):1277-81. PMID: 17068980

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