FASPS
MCID: ADV001
MIFTS: 40

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 74 54 15 71
Fasps 52 58 54
Familial Advanced Sleep-Phase Syndrome 12 58
Familial Advanced Sleep Phase Syndrome 52 36
Sleep Phase Syndrome, Advanced, Familial 39
Advanced Sleep Phase Syndrome, Familial 52
Advanced Sleep-Phase Syndrome, Familial 71

Characteristics:

Orphanet epidemiological data:

58
familial advanced sleep-phase syndrome
Inheritance: Autosomal dominant; Age of onset: Adolescent,Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050628
KEGG 36 H00688
ICD10 via Orphanet 33 G47.2
UMLS via Orphanet 72 C1858496
Orphanet 58 ORPHA164736
UMLS 71 C0751758 C1858496

Summaries for Advanced Sleep Phase Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 164736 Definition Familial 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 advanced sleep phase syndrome, familial, 1 and sleep 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 Decreased viability and Decreased viability

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 : 36 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 : 74 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 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.83 CSNK1E
2 Decreased viability GR00221-A-2 9.83 CSNK1E
3 Decreased viability GR00221-A-3 9.83 CSNK1D
4 Decreased viability GR00221-A-4 9.83 CSNK1E
5 Decreased viability GR00240-S-1 9.83 AANAT PER2
6 Decreased viability GR00249-S 9.83 CLOCK CSNK1D CSNK1E OPN4 PER1 RBM4
7 Decreased viability GR00301-A 9.83 CSNK1E
8 Decreased viability GR00342-S-3 9.83 CSNK1D
9 Decreased viability GR00381-A-1 9.83 BHLHE41 OPN4
10 Decreased viability GR00381-A-3 9.83 OPN4
11 Decreased viability GR00386-A-1 9.83 ARNTL BHLHE41 CRY2 PER3 RBM4 TIMELESS
12 Decreased viability GR00402-S-2 9.83 AANAT ARNTL CRY1 FBXL3 HCRT NPAS2

MGI Mouse Phenotypes related to Advanced Sleep Phase Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 ARNTL CLOCK CRY1 CRY2 CSNK1D CSNK1E
2 nervous system MP:0003631 9.83 AANAT ARNTL CABP4 CLOCK CRY1 CRY2
3 vision/eye MP:0005391 9.23 ARNTL CABP4 CRY1 CRY2 NR1D1 OPN4

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 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:

40
Hypothalamus, Brain

Publications for Advanced Sleep Phase Syndrome

Articles related to Advanced Sleep Phase Syndrome:

(show top 50) (show all 85)
# Title Authors PMID Year
1
Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome. 61 6
15800623 2005
2
An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. 6 61
11232563 2001
3
A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait. 6
26903630 2016
4
Casein kinase iδ mutations in familial migraine and advanced sleep phase. 6
23636092 2013
5
[Functional polymorphisms in clock genes and circadian rhythm sleep disorders]. 61 54
17633519 2007
6
Circadian rhythms in the CNS and peripheral clock disorders: human sleep disorders and clock genes. 54 61
17299246 2007
7
A circadian sleep disorder reveals a complex clock. 61 54
17218251 2007
8
Role of phosphorylation in the mammalian circadian clock. 61 54
18419274 2007
9
Differential effects of PER2 phosphorylation: molecular basis for the human familial advanced sleep phase syndrome (FASPS). 61 54
16983144 2006
10
Genetics of the sleep-wake cycle and its disorders. 61 54
16979429 2006
11
Genetics of migraine aura: an update. 61
32503413 2020
12
NAD+ Controls Circadian Reprogramming through PER2 Nuclear Translocation to Counter Aging. 61
32369735 2020
13
"Circadian misalignment and the gut microbiome. A bidirectional relationship triggering inflammation and metabolic disorders"- a literature review. 61
32559717 2020
14
Genetic mouse models of migraine. 61
31299902 2019
15
Optimized 4,5-Diarylimidazoles as Potent/Selective Inhibitors of Protein Kinase CK1δ and Their Structural Relation to p38α MAPK. 61
28338621 2017
16
A FERONIA-Like Receptor Kinase Regulates Strawberry (Fragaria × ananassa) Fruit Ripening and Quality Formation. 61
28702036 2017
17
Rigid Cooperation of Per1 and Per2 proteins. 61
27609640 2016
18
Animal models of monogenic migraine. 61
27154999 2016
19
From migraine genes to mechanisms. 61
25789438 2015
20
PER1 phosphorylation specifies feeding rhythm in mice. 61
24857656 2014
21
Migraine and sleep: new connections. 61
24765233 2013
22
Genetic and immunologic aspects of sleep and sleep disorders. 61
23648914 2013
23
Neurodegenerative Disease and REM Behavior Disorder. 61
22879077 2012
24
Cognitive and behavioral treatment options for insomnia. 61
22786741 2012
25
The circadian mutation PER2(S662G) is linked to cell cycle progression and tumorigenesis. 61
21818120 2012
26
An association analysis of Per2 with panic disorder in the Japanese population. 61
21814225 2011
27
The period of the circadian oscillator is primarily determined by the balance between casein kinase 1 and protein phosphatase 1. 61
21930935 2011
28
[Genetics of sleep]. 61
21786645 2011
29
Casein kinase 1-dependent phosphorylation of familial advanced sleep phase syndrome-associated residues controls PERIOD 2 stability. 61
21324900 2011
30
miRNA-132 orchestrates chromatin remodeling and translational control of the circadian clock. 61
21118894 2011
31
Modelling the dual role of Per phosphorylation and its effect on the period and phase of the mammalian circadian clock. 61
21261401 2011
32
Behavioral and genetic dissection of a mouse model for advanced sleep phase syndrome. 61
21203370 2011
33
Disease and Degeneration of Aging Neural Systems that Integrate Sleep Drive and Circadian Oscillations. 61
22028699 2011
34
Segregation of expression of mPeriod gene homologs in neurons and glia: possible divergent roles of mPeriod1 and mPeriod2 in the brain. 61
19477955 2009
35
[Timekeeping molecules: implications for circadian phenotypes]. 61
19506779 2009
36
Disruption of the circadian timing systems: molecular mechanisms in mood disorders. 61
19708722 2009
37
The roles of melatonin and light in the pathophysiology and treatment of circadian rhythm sleep disorders. 61
18628753 2008
38
Modeling the circadian clock: from molecular mechanism to physiological disorders. 61
18478538 2008
39
The genetic basis of sleep disorders. 61
19075715 2008
40
Protein kinase A and casein kinases mediate sequential phosphorylation events in the circadian negative feedback loop. 61
18079175 2007
41
Circadian rhythmicity and the pharmacologic management of insomnia. 61
18041873 2007
42
[Normal and disordered sleep]. 61
17652992 2007
43
Narcolepsy and familial advanced sleep-phase syndrome: molecular genetics of sleep disorders. 61
17467264 2007
44
Beyond intuitive modeling: combining biophysical models with innovative experiments to move the circadian clock field forward. 61
17517910 2007
45
Practice parameters for the use of actigraphy in the assessment of sleep and sleep disorders: an update for 2007. 61
17520797 2007
46
Modeling of a human circadian mutation yields insights into clock regulation by PER2. 61
17218255 2007
47
Novel insights from genetic and molecular characterization of the human clock. 61
18419283 2007
48
Circadian rhythm sleep disorders and phototherapy. 61
17118278 2006
49
Genetic basis for sleep regulation and sleep disorders. 61
17048148 2006
50
Sleep in persons with dementia: Increasing quality of life by managing sleep disorders. 61
16544457 2006

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:

36
# 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 nucleus GO:0005634 9.83 TIMELESS RBM4 PER3 PER2 PER1 NR1D1
2 nuclear chromatin GO:0000790 9.73 TIMELESS NR1D1 NPAS2 CLOCK BHLHE41 ARNTL
3 cytoplasm GO:0005737 9.55 RBM4 PER3 PER2 PER1 NR1D1 NPAS2
4 chromatoid body GO:0033391 9.16 CLOCK ARNTL

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.13 TIMELESS PER3 PER2 PER1 NR1D1 CRY2
2 negative regulation of transcription, DNA-templated GO:0045892 10.09 TIMELESS PER2 PER1 NR1D1 CRY2 CRY1
3 regulation of circadian rhythm GO:0042752 10 TIMELESS PER2 PER1 OPN4 NR1D1 FBXL3
4 circadian regulation of gene expression GO:0032922 9.93 PER3 PER2 PER1 NR1D1 NPAS2 CSNK1E
5 response to light stimulus GO:0009416 9.88 PER3 PER2 PER1 CRY2 CRY1 AANAT
6 entrainment of circadian clock by photoperiod GO:0043153 9.87 RBM4 PER3 PER2 PER1 FBXL3 CRY2
7 G2/M transition of mitotic cell cycle GO:0000086 9.8 FBXL3 CSNK1E CSNK1D
8 response to insulin GO:0032868 9.79 CRY2 CRY1 AANAT
9 regulation of insulin secretion GO:0050796 9.78 PER2 CLOCK ARNTL
10 regulation of neurogenesis GO:0050767 9.77 PER2 BHLHE41 ARNTL
11 negative regulation of glucocorticoid receptor signaling pathway GO:2000323 9.77 PER1 CRY2 CRY1 CLOCK ARNTL
12 circadian rhythm GO:0007623 9.73 TIMELESS PER3 PER2 PER1 NR1D1 NPAS2
13 protein-chromophore linkage GO:0018298 9.71 OPN4 CRY2 CRY1
14 response to redox state GO:0051775 9.69 NPAS2 CLOCK ARNTL
15 negative regulation of circadian rhythm GO:0042754 9.67 PER2 CRY2 CRY1
16 regulation of hair cycle GO:0042634 9.65 PER1 CLOCK ARNTL
17 lipid storage GO:0019915 9.63 CRY2 CRY1
18 circadian regulation of translation GO:0097167 9.63 RBM4 PER2 PER1
19 glycogen biosynthetic process GO:0005978 9.62 PER2 NR1D1
20 histone H3 deacetylation GO:0070932 9.62 PER2 PER1
21 positive regulation of non-canonical Wnt signaling pathway GO:2000052 9.6 CSNK1E CSNK1D
22 regulation of type B pancreatic cell development GO:2000074 9.58 CLOCK ARNTL
23 photoperiodism GO:0009648 9.58 CLOCK AANAT
24 negative regulation of glucocorticoid secretion GO:2000850 9.57 CRY2 CRY1
25 positive regulation of Wnt-mediated midbrain dopaminergic neuron differentiation GO:1905426 9.56 CSNK1E CSNK1D
26 blue light signaling pathway GO:0009785 9.55 CRY2 CRY1
27 rhythmic process GO:0048511 9.53 TIMELESS PER3 PER2 PER1 OPN4 NR1D1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.44 TIMELESS RBM4 PER3 PER2 PER1 NR1D1
2 DNA binding GO:0003677 10.14 TIMELESS NR1D1 NPAS2 CRY2 CRY1 CLOCK
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.93 PER1 NR1D1 NPAS2 CLOCK BHLHE41 ARNTL
4 transcription factor binding GO:0008134 9.88 PER3 PER2 PER1 NR1D1 CRY1
5 protein dimerization activity GO:0046983 9.8 NPAS2 CLOCK BHLHE41 ARNTL
6 kinase binding GO:0019900 9.73 PER3 PER1 CRY2 CRY1
7 transcription regulatory region sequence-specific DNA binding GO:0000976 9.63 PER3 PER2 PER1 NR1D1 CRY2 ARNTL
8 nuclear hormone receptor binding GO:0035257 9.55 CRY2 CRY1
9 bHLH transcription factor binding GO:0043425 9.52 BHLHE41 ARNTL
10 photoreceptor activity GO:0009881 9.43 OPN4 CRY2 CRY1
11 blue light photoreceptor activity GO:0009882 9.4 CRY2 CRY1
12 DNA (6-4) photolyase activity GO:0003914 9.37 CRY2 CRY1
13 deoxyribodipyrimidine photo-lyase activity GO:0003904 9.32 CRY2 CRY1
14 transcription corepressor binding GO:0001222 9.26 PER3 PER2 PER1 NR1D1
15 E-box binding GO:0070888 9.1 PER1 NR1D1 CRY1 CLOCK BHLHE41 ARNTL

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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