FASPS
MCID: ADV001
MIFTS: 38

Advanced Sleep Phase Syndrome (FASPS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Advanced Sleep Phase Syndrome

MalaCards integrated aliases for Advanced Sleep Phase Syndrome:

Name: Advanced Sleep Phase Syndrome 12 75 55 15 72
Fasps 53 59 55
Advanced Sleep Phase Syndrome, Familial 53 40
Familial Advanced Sleep-Phase Syndrome 12 59
Familial Advanced Sleep Phase Syndrome 53 37
Advanced Sleep-Phase Syndrome, Familial 72

Characteristics:

Orphanet epidemiological data:

59
familial advanced sleep-phase syndrome
Inheritance: Autosomal dominant; Age of onset: Adolescent,Childhood;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050628
KEGG 37 H00688
ICD10 via Orphanet 34 G47.2
UMLS via Orphanet 73 C1858496
Orphanet 59 ORPHA164736
UMLS 72 C0751758 C1858496

Summaries for Advanced Sleep Phase Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 164736DefinitionFamilial advanced sleep-phase syndrome (FASPS) is a very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions.Visit the Orphanet disease page for more resources.

MalaCards based summary : Advanced Sleep Phase Syndrome, also known as fasps, is related to sleep disorder and delayed sleep phase disorder. An important gene associated with Advanced Sleep Phase Syndrome is PER2 (Period Circadian Regulator 2), and among its related pathways/superpathways are Circadian rhythm and Circadian entrainment. The drugs Melatonin and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include hypothalamus and brain, and related phenotypes are Increased senescence-associated beta-galactosidase protein expression after pRB stimulation and Synthetic lethal with gemcitabine

Disease Ontology : 12 A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.

KEGG : 37
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.

Wikipedia : 75 Advanced Sleep Phase Disorder (ASPD), also known as the advanced sleep-phase type (ASPT) of circadian... more...

Related Diseases for Advanced Sleep Phase Syndrome

Graphical network of the top 20 diseases related to Advanced Sleep Phase Syndrome:



Diseases related to Advanced Sleep Phase Syndrome

Symptoms & Phenotypes for Advanced Sleep Phase Syndrome

GenomeRNAi Phenotypes related to Advanced Sleep Phase Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased senescence-associated beta-galactosidase protein expression after pRB stimulation GR00230-A-2 8.96 CSNK1D CSNK1E
2 Synthetic lethal with gemcitabine GR00225-A 8.62 CSNK1D CSNK1E

MGI Mouse Phenotypes related to Advanced Sleep Phase Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.5 CLOCK CSNK1D CSNK1E HCRT PER1 PER2
2 nervous system MP:0003631 9.23 AANAT CABP4 CLOCK CSNK1E HCRT PER1

Drugs & Therapeutics for Advanced Sleep Phase Syndrome

Drugs for Advanced Sleep Phase Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Melatonin Approved, Nutraceutical, Vet_approved 73-31-4 896
2 Antioxidants
3 Central Nervous System Depressants
4 Protective Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2 Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Dose-Ranging Study to Evaluate the Phase-Shifting Effects of Repeated Daily Dosing of Ramelteon in Healthy Subjects Completed NCT00671190 Phase 2 Ramelteon;Ramelteon;Ramelteon;Ramelteon;Placebo
2 Circadian Integration of Photic and Non-photic Stimuli Unknown status NCT00387179 Melatonin;Methylxanthine
3 The Effect of Improving Sleep and Circadian Rhythms on Affective Symptoms In First Year Medical Students Completed NCT02088593
4 Circadian Rhythms and Sleep in Familial Delayed Sleep Phase Syndrome (DSPS) and Advanced Sleep Phase Syndrome (ASPS) Recruiting NCT00246454

Search NIH Clinical Center for Advanced Sleep Phase Syndrome

Genetic Tests for Advanced Sleep Phase Syndrome

Anatomical Context for Advanced Sleep Phase Syndrome

MalaCards organs/tissues related to Advanced Sleep Phase Syndrome:

41
Hypothalamus, Brain

Publications for Advanced Sleep Phase Syndrome

Articles related to Advanced Sleep Phase Syndrome:

(show top 50) (show all 82)
# Title Authors PMID Year
1
Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome. 38 71
15800623 2005
2
An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. 38 71
11232563 2001
3
A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait. 71
26903630 2016
4
Casein kinase iδ mutations in familial migraine and advanced sleep phase. 71
23636092 2013
5
[Functional polymorphisms in clock genes and circadian rhythm sleep disorders]. 9 38
17633519 2007
6
Circadian rhythms in the CNS and peripheral clock disorders: human sleep disorders and clock genes. 9 38
17299246 2007
7
A circadian sleep disorder reveals a complex clock. 9 38
17218251 2007
8
Role of phosphorylation in the mammalian circadian clock. 9 38
18419274 2007
9
Differential effects of PER2 phosphorylation: molecular basis for the human familial advanced sleep phase syndrome (FASPS). 9 38
16983144 2006
10
Genetics of the sleep-wake cycle and its disorders. 9 38
16979429 2006
11
Genetic mouse models of migraine. 38
31299902 2019
12
Optimized 4,5-Diarylimidazoles as Potent/Selective Inhibitors of Protein Kinase CK1δ and Their Structural Relation to p38α MAPK. 38
28338621 2017
13
A FERONIA-Like Receptor Kinase Regulates Strawberry (Fragaria × ananassa) Fruit Ripening and Quality Formation. 38
28702036 2017
14
Rigid Cooperation of Per1 and Per2 proteins. 38
27609640 2016
15
Animal models of monogenic migraine. 38
27154999 2016
16
From migraine genes to mechanisms. 38
25789438 2015
17
PER1 phosphorylation specifies feeding rhythm in mice. 38
24857656 2014
18
Migraine and sleep: new connections. 38
24765233 2013
19
Genetic and immunologic aspects of sleep and sleep disorders. 38
23648914 2013
20
Neurodegenerative Disease and REM Behavior Disorder. 38
22879077 2012
21
Cognitive and behavioral treatment options for insomnia. 38
22786741 2012
22
The circadian mutation PER2(S662G) is linked to cell cycle progression and tumorigenesis. 38
21818120 2012
23
An association analysis of Per2 with panic disorder in the Japanese population. 38
21814225 2011
24
The period of the circadian oscillator is primarily determined by the balance between casein kinase 1 and protein phosphatase 1. 38
21930935 2011
25
Casein kinase 1-dependent phosphorylation of familial advanced sleep phase syndrome-associated residues controls PERIOD 2 stability. 38
21324900 2011
26
[Genetics of sleep]. 38
21786645 2011
27
miRNA-132 orchestrates chromatin remodeling and translational control of the circadian clock. 38
21118894 2011
28
Modelling the dual role of Per phosphorylation and its effect on the period and phase of the mammalian circadian clock. 38
21261401 2011
29
Behavioral and genetic dissection of a mouse model for advanced sleep phase syndrome. 38
21203370 2011
30
Disease and Degeneration of Aging Neural Systems that Integrate Sleep Drive and Circadian Oscillations. 38
22028699 2011
31
Segregation of expression of mPeriod gene homologs in neurons and glia: possible divergent roles of mPeriod1 and mPeriod2 in the brain. 38
19477955 2009
32
[Timekeeping molecules: implications for circadian phenotypes]. 38
19506779 2009
33
Disruption of the circadian timing systems: molecular mechanisms in mood disorders. 38
19708722 2009
34
The roles of melatonin and light in the pathophysiology and treatment of circadian rhythm sleep disorders. 38
18628753 2008
35
Modeling the circadian clock: from molecular mechanism to physiological disorders. 38
18478538 2008
36
The genetic basis of sleep disorders. 38
19075715 2008
37
Protein kinase A and casein kinases mediate sequential phosphorylation events in the circadian negative feedback loop. 38
18079175 2007
38
Circadian rhythmicity and the pharmacologic management of insomnia. 38
18041873 2007
39
[Normal and disordered sleep]. 38
17652992 2007
40
Beyond intuitive modeling: combining biophysical models with innovative experiments to move the circadian clock field forward. 38
17517910 2007
41
Narcolepsy and familial advanced sleep-phase syndrome: molecular genetics of sleep disorders. 38
17467264 2007
42
Practice parameters for the use of actigraphy in the assessment of sleep and sleep disorders: an update for 2007. 38
17520797 2007
43
Modeling of a human circadian mutation yields insights into clock regulation by PER2. 38
17218255 2007
44
Novel insights from genetic and molecular characterization of the human clock. 38
18419283 2007
45
Circadian rhythm sleep disorders and phototherapy. 38
17118278 2006
46
Genetic basis for sleep regulation and sleep disorders. 38
17048148 2006
47
Sleep in persons with dementia: Increasing quality of life by managing sleep disorders. 38
16544457 2006
48
A single-nucleotide polymorphism in the 5'-untranslated region of the hPER2 gene is associated with diurnal preference. 38
16120104 2005
49
Treatment of sleep disorders in elderly patients. 38
16079039 2005
50
Magnesium depletion with hypo- or hyper- function of the biological clock may be involved in chronopathological forms of asthma. 38
15945613 2005

Variations for Advanced Sleep Phase Syndrome

Expression for Advanced Sleep Phase Syndrome

Search GEO for disease gene expression data for Advanced Sleep Phase Syndrome.

Pathways for Advanced Sleep Phase Syndrome

Pathways related to Advanced Sleep Phase Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Circadian rhythm hsa04710

GO Terms for Advanced Sleep Phase Syndrome

Cellular components related to Advanced Sleep Phase Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.61 PER3 PER2 PER1 HCRT CSNK1E CSNK1D
2 perinuclear region of cytoplasm GO:0048471 9.02 PER2 HCRT DAOA CSNK1D AANAT

Biological processes related to Advanced Sleep Phase Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of circadian rhythm GO:0042752 9.62 PER2 PER1 CSNK1E CSNK1D
2 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.57 CSNK1E CSNK1D
3 regulation of insulin secretion GO:0050796 9.56 PER2 CLOCK
4 response to light stimulus GO:0009416 9.56 PER3 PER2 PER1 AANAT
5 peptidyl-threonine phosphorylation GO:0018107 9.55 CSNK1E CSNK1D
6 circadian rhythm GO:0007623 9.55 PER3 PER2 PER1 CLOCK AANAT
7 response to cAMP GO:0051591 9.54 PER1 AANAT
8 entrainment of circadian clock by photoperiod GO:0043153 9.54 PER3 PER2 PER1
9 histone H3 deacetylation GO:0070932 9.52 PER2 PER1
10 regulation of hair cycle GO:0042634 9.51 PER1 CLOCK
11 negative regulation of glucocorticoid receptor signaling pathway GO:2000323 9.49 PER1 CLOCK
12 positive regulation of non-canonical Wnt signaling pathway GO:2000052 9.48 CSNK1E CSNK1D
13 circadian regulation of translation GO:0097167 9.46 PER2 PER1
14 photoperiodism GO:0009648 9.43 CLOCK AANAT
15 circadian regulation of gene expression GO:0032922 9.43 PER3 PER2 PER1 CSNK1E CSNK1D CLOCK
16 positive regulation of Wnt-mediated midbrain dopaminergic neuron differentiation GO:1905426 9.4 CSNK1E CSNK1D
17 rhythmic process GO:0048511 9.17 PER3 PER2 PER1 CSNK1E CSNK1D CLOCK

Molecular functions related to Advanced Sleep Phase Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.43 PER3 PER2 PER1
2 chromatin DNA binding GO:0031490 9.32 PER1 CLOCK
3 E-box binding GO:0070888 9.16 PER1 CLOCK
4 transcription regulatory region sequence-specific DNA binding GO:0000976 9.13 PER3 PER2 PER1
5 transcription corepressor binding GO:0001222 8.8 PER3 PER2 PER1

Sources for Advanced Sleep Phase Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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