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FASPS
MCID: ADV001
MIFTS: 40

Advanced Sleep Phase Syndrome (FASPS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Advanced Sleep Phase Syndrome

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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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33
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
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Summaries for Advanced Sleep Phase Syndrome

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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, myeloid 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...

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Related Diseases for Advanced Sleep Phase Syndrome

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Diseases in the Advanced Sleep Phase Syndrome family:

Advanced Sleep Phase Syndrome, Familial, 1 Advanced Sleep Phase Syndrome, Familial, 2
Advanced Sleep Phase Syndrome, Familial, 3

Diseases related to Advanced Sleep Phase Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 advanced sleep phase syndrome, familial, 1 34.7 PER3 PER2 NPAS2 CRY2 CRY1 BHLHE41
2 sleep disorder 29.0 PER3 PER2 OPN4 NPAS2 HCRTR2 HCRT
3 delayed sleep phase disorder 28.0 TIMELESS PER3 PER2 OPN4 NR1D1 NPAS2
4 advanced sleep phase syndrome, familial, 2 13.1
5 advanced sleep phase syndrome, familial, 3 13.0
6 bile duct cystadenoma 10.3 PER3 CLOCK ARNTL
7 bipolar i disorder 10.2 TIMELESS PER3 ARNTL
8 rohhad 10.2 HCRTR2 HCRT
9 abnormal threshold of rods 10.2 OPN4 CABP4
10 schizoaffective disorder 10.2 TIMELESS PER3 ARNTL
11 cluster headache 10.2 HCRTR2 CLOCK
12 alveolar soft part sarcoma 10.2
13 recurrent hypersomnia 10.2 PER2 HCRTR2 HCRT
14 autoimmune disease 10.2
15 colorectal cancer 10.2
16 triiodothyronine receptor auxiliary protein 10.2
17 leukemia, acute myeloid 10.2
18 aortic valve disease 2 10.2
19 glomerulonephritis 10.2
20 myeloid leukemia 10.2
21 von economo's disease 10.1 HCRTR2 HCRT
22 periodic limb movement disorder 10.1 HCRTR2 HCRT CABP4
23 central sleep apnea 10.0 HCRT CABP4
24 nephronophthisis 3 10.0 CRY2 CRY1
25 rem sleep behavior disorder 10.0 PER2 PER1 NR1D1 HCRT ARNTL
26 narcolepsy 9.8
27 bipolar disorder 9.4 TIMELESS PER3 PER2 NR1D1 NPAS2 CSNK1E
28 major depressive disorder 9.3 PER3 PER2 OPN4 NR1D1 NPAS2 HCRT

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



Diseases related to Advanced Sleep Phase Syndrome
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Symptoms & Phenotypes for Advanced Sleep Phase Syndrome

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.15 CSNK1E
2 Decreased viability GR00221-A-2 10.15 CSNK1E
3 Decreased viability GR00221-A-3 10.15 CSNK1D
4 Decreased viability GR00221-A-4 10.15 CSNK1E
5 Decreased viability GR00240-S-1 10.15 AANAT PER2
6 Decreased viability GR00301-A 10.15 CSNK1E
7 Decreased viability GR00342-S-3 10.15 CSNK1D
8 Decreased viability GR00381-A-1 10.15 BHLHE41 OPN4
9 Decreased viability GR00381-A-3 10.15 OPN4
10 Decreased viability GR00402-S-2 10.15 AANAT ARNTL BHLHE41 CABP4 CLOCK CRY1
11 no effect GR00402-S-1 9.62 AANAT ARNTL BHLHE41 CABP4 CLOCK CRY1

MGI Mouse Phenotypes related to Advanced Sleep Phase Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ARNTL CLOCK CRY1 CRY2 CSNK1D CSNK1E
2 nervous system MP:0003631 9.86 AANAT ARNTL CABP4 CLOCK CRY1 CRY2
3 vision/eye MP:0005391 9.23 ARNTL CABP4 CRY1 CRY2 NR1D1 OPN4
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Drugs & Therapeutics for Advanced Sleep Phase Syndrome

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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

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Genetic Tests for Advanced Sleep Phase Syndrome

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Anatomical Context for Advanced Sleep Phase Syndrome

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MalaCards organs/tissues related to Advanced Sleep Phase Syndrome:

40
Hypothalamus, Myeloid, Brain
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Publications for Advanced Sleep Phase Syndrome

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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. 61 6
15800623 2005
2
An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. 61 6
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]. 54 61
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. 54 61
17218251 2007
8
Role of phosphorylation in the mammalian circadian clock. 54 61
18419274 2007
9
Differential effects of PER2 phosphorylation: molecular basis for the human familial advanced sleep phase syndrome (FASPS). 54 61
16983144 2006
10
Genetics of the sleep-wake cycle and its disorders. 54 61
16979429 2006
11
Genetic mouse models of migraine. 61
31299902 2019
12
Optimized 4,5-Diarylimidazoles as Potent/Selective Inhibitors of Protein Kinase CK1δ and Their Structural Relation to p38α MAPK. 61
28338621 2017
13
A FERONIA-Like Receptor Kinase Regulates Strawberry (Fragaria × ananassa) Fruit Ripening and Quality Formation. 61
28702036 2017
14
Rigid Cooperation of Per1 and Per2 proteins. 61
27609640 2016
15
Animal models of monogenic migraine. 61
27154999 2016
16
From migraine genes to mechanisms. 61
25789438 2015
17
PER1 phosphorylation specifies feeding rhythm in mice. 61
24857656 2014
18
Migraine and sleep: new connections. 61
24765233 2013
19
Genetic and immunologic aspects of sleep and sleep disorders. 61
23648914 2013
20
Neurodegenerative Disease and REM Behavior Disorder. 61
22879077 2012
21
Cognitive and behavioral treatment options for insomnia. 61
22786741 2012
22
The circadian mutation PER2(S662G) is linked to cell cycle progression and tumorigenesis. 61
21818120 2012
23
An association analysis of Per2 with panic disorder in the Japanese population. 61
21814225 2011
24
The period of the circadian oscillator is primarily determined by the balance between casein kinase 1 and protein phosphatase 1. 61
21930935 2011
25
[Genetics of sleep]. 61
21786645 2011
26
Casein kinase 1-dependent phosphorylation of familial advanced sleep phase syndrome-associated residues controls PERIOD 2 stability. 61
21324900 2011
27
miRNA-132 orchestrates chromatin remodeling and translational control of the circadian clock. 61
21118894 2011
28
Modelling the dual role of Per phosphorylation and its effect on the period and phase of the mammalian circadian clock. 61
21261401 2011
29
Disease and Degeneration of Aging Neural Systems that Integrate Sleep Drive and Circadian Oscillations. 61
22028699 2011
30
Behavioral and genetic dissection of a mouse model for advanced sleep phase syndrome. 61
21203370 2011
31
Segregation of expression of mPeriod gene homologs in neurons and glia: possible divergent roles of mPeriod1 and mPeriod2 in the brain. 61
19477955 2009
32
[Timekeeping molecules: implications for circadian phenotypes]. 61
19506779 2009
33
Disruption of the circadian timing systems: molecular mechanisms in mood disorders. 61
19708722 2009
34
The roles of melatonin and light in the pathophysiology and treatment of circadian rhythm sleep disorders. 61
18628753 2008
35
Modeling the circadian clock: from molecular mechanism to physiological disorders. 61
18478538 2008
36
The genetic basis of sleep disorders. 61
19075715 2008
37
Protein kinase A and casein kinases mediate sequential phosphorylation events in the circadian negative feedback loop. 61
18079175 2007
38
Circadian rhythmicity and the pharmacologic management of insomnia. 61
18041873 2007
39
[Normal and disordered sleep]. 61
17652992 2007
40
Narcolepsy and familial advanced sleep-phase syndrome: molecular genetics of sleep disorders. 61
17467264 2007
41
Beyond intuitive modeling: combining biophysical models with innovative experiments to move the circadian clock field forward. 61
17517910 2007
42
Practice parameters for the use of actigraphy in the assessment of sleep and sleep disorders: an update for 2007. 61
17520797 2007
43
Novel insights from genetic and molecular characterization of the human clock. 61
18419283 2007
44
Modeling of a human circadian mutation yields insights into clock regulation by PER2. 61
17218255 2007
45
Circadian rhythm sleep disorders and phototherapy. 61
17118278 2006
46
Genetic basis for sleep regulation and sleep disorders. 61
17048148 2006
47
Sleep in persons with dementia: Increasing quality of life by managing sleep disorders. 61
16544457 2006
48
A single-nucleotide polymorphism in the 5'-untranslated region of the hPER2 gene is associated with diurnal preference. 61
16120104 2005
49
Treatment of sleep disorders in elderly patients. 61
16079039 2005
50
Magnesium depletion with hypo- or hyper- function of the biological clock may be involved in chronopathological forms of asthma. 61
15945613 2005
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Variations for Advanced Sleep Phase Syndrome

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Expression for Advanced Sleep Phase Syndrome

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

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Pathways related to Advanced Sleep Phase Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Circadian rhythm hsa04710

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

# Super pathways Score Top Affiliating Genes
1
Circadian entrainment 36
Show member pathways
 12.52 PER3 PER2 PER1 CLOCK ARNTL
2
Neuroscience 4
12.36 NR1D1 HCRT CSNK1E CSNK1D ARNTL
3
BMAL1-CLOCK,NPAS2 activates circadian gene expression 65
Show member pathways
 12.19 PER2 PER1 NR1D1 NPAS2 FBXL3 CSNK1E
5
Diurnally Regulated Genes with Circadian Orthologs 1
11.57 PER2 PER1 CRY2 CRY1 CLOCK ARNTL
6
Melatonin metabolism and effects 1
11.48 PER3 PER2 PER1 CSNK1E CSNK1D CRY2
7
Circadian rhythm 36
Show member pathways
 11.4 PER3 PER2 PER1 NR1D1 NPAS2 FBXL3
8
Circadian rhythm pathway 1
11.01 TIMELESS PER1 NR1D1 NPAS2 CSNK1E CLOCK
9
Metabolic States and Circadian Oscillators 63
Show member pathways
 10.92 PER1 NPAS2 CRY2 CRY1 CLOCK ARNTL
10
DARPP-32 Phosphorylation 64
10.82 CSNK1E CSNK1D
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GO Terms for Advanced Sleep Phase Syndrome

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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 9.8 TIMELESS PER3 PER2 PER1 NR1D1 NPAS2
2 nuclear chromatin GO:0000790 9.73 TIMELESS NR1D1 NPAS2 CLOCK BHLHE41 ARNTL
3 cytoplasm GO:0005737 9.53 PER3 PER2 PER1 NR1D1 NPAS2 HCRT
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 10.11 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 9.85 PER3 PER2 PER1 FBXL3 CRY2 CRY1
7 G2/M transition of mitotic cell cycle GO:0000086 9.81 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 circadian rhythm GO:0007623 9.73 TIMELESS PER3 PER2 PER1 NR1D1 NPAS2
12 negative regulation of glucocorticoid receptor signaling pathway GO:2000323 9.72 PER1 CRY2 CRY1 CLOCK ARNTL
13 protein-chromophore linkage GO:0018298 9.7 OPN4 CRY2 CRY1
14 response to redox state GO:0051775 9.67 NPAS2 CLOCK ARNTL
15 negative regulation of circadian rhythm GO:0042754 9.65 PER2 CRY2 CRY1
16 lipid storage GO:0019915 9.63 CRY2 CRY1
17 regulation of hair cycle GO:0042634 9.63 PER1 CLOCK ARNTL
18 glycogen biosynthetic process GO:0005978 9.62 PER2 NR1D1
19 histone H3 deacetylation GO:0070932 9.62 PER2 PER1
20 positive regulation of non-canonical Wnt signaling pathway GO:2000052 9.6 CSNK1E CSNK1D
21 circadian regulation of translation GO:0097167 9.58 PER2 PER1
22 regulation of type B pancreatic cell development GO:2000074 9.58 CLOCK ARNTL
23 photoperiodism GO:0009648 9.57 CLOCK AANAT
24 negative regulation of glucocorticoid secretion GO:2000850 9.56 CRY2 CRY1
25 positive regulation of Wnt-mediated midbrain dopaminergic neuron differentiation GO:1905426 9.55 CSNK1E CSNK1D
26 blue light signaling pathway GO:0009785 9.54 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 12)
# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.91 PER1 NR1D1 CLOCK BHLHE41 ARNTL
2 transcription factor binding GO:0008134 9.88 PER3 PER2 PER1 NR1D1 CRY1
3 protein dimerization activity GO:0046983 9.8 NPAS2 CLOCK BHLHE41 ARNTL
4 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.76 NPAS2 CLOCK BHLHE41 ARNTL
5 kinase binding GO:0019900 9.62 PER3 PER1 CRY2 CRY1
6 transcription corepressor binding GO:0001222 9.46 PER3 PER2 PER1 NR1D1
7 blue light photoreceptor activity GO:0009882 9.43 CRY2 CRY1
8 photoreceptor activity GO:0009881 9.43 OPN4 CRY2 CRY1
9 transcription regulatory region sequence-specific DNA binding GO:0000976 9.43 PER3 PER2 PER1 NR1D1 CRY2 ARNTL
10 DNA (6-4) photolyase activity GO:0003914 9.4 CRY2 CRY1
11 deoxyribodipyrimidine photo-lyase activity GO:0003904 9.37 CRY2 CRY1
12 E-box binding GO:0070888 9.1 PER1 NR1D1 CRY1 CLOCK BHLHE41 ARNTL
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Sources for Advanced Sleep Phase Syndrome

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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