FASPS
MCID: ADV001
MIFTS: 39

Advanced Sleep Phase Syndrome (FASPS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Advanced Sleep Phase Syndrome

MalaCards integrated aliases for Advanced Sleep Phase Syndrome:

Name: Advanced Sleep Phase Syndrome 11 75 53 14 71
Fasps 19 58 53
Familial Advanced Sleep-Phase Syndrome 11 58
Sleep Phase Syndrome, Advanced, Familial 38
Advanced Sleep Phase Syndrome, Familial 19
Advanced Sleep-Phase Syndrome, Familial 71
Familial Advanced Sleep Phase Syndrome 19

Characteristics:


Inheritance:

Familial Advanced Sleep-Phase Syndrome: Autosomal dominant 58

Age Of Onset:

Familial Advanced Sleep-Phase Syndrome: Adolescent,Childhood 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:0050628
ICD10 via Orphanet 32 G47.2
UMLS via Orphanet 72 C1858496
Orphanet 58 ORPHA164736
UMLS 71 C0751758 C1858496

Summaries for Advanced Sleep Phase Syndrome

GARD: 19 A rare genetic neurological disorder characterized by very early sleep onset and offset. Plasma melatonin levels and body core temperature rhythms are also phase-advanced. The sleep-wake cycle is generally shortened. Additional reported features include migraine with or without aura and seasonal affective disorder.

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 Neuroscience and Circadian Clock. The drugs Melatonin and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include hypothalamus and brain, and related phenotypes are Reduced mammosphere formation and nervous system

Orphanet: 58 A rare genetic neurological disorder characterized by very early sleep onset and offset. Plasma melatonin levels and body core temperature rhythms are also phase-advanced. The sleep-wake cycle is generally shortened. Additional reported features include migraine with or without aura and seasonal affective disorder.

Disease Ontology: 11 A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.13 AANAT BHLHE41 BMAL1 CLOCK CRY1 CRY2
2 no effect GR00402-S-2 10.13 BHLHE41 CLOCK CRY2 CSNK1D CSNK1E FBXL13
3 Reduced mammosphere formation GR00396-S 9.43 CLOCK CSNK1E NPAS2 NR1D1 PER3 TIMELESS

MGI Mouse Phenotypes related to Advanced Sleep Phase Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10 AANAT BMAL1 CLOCK CRY1 CRY2 CSNK1E
2 behavior/neurological MP:0005386 9.86 BHLHE41 BMAL1 CLOCK CRY1 CRY2 CSNK1D
3 no phenotypic analysis MP:0003012 9.8 CLOCK CSNK1D CSNK1E NFIL3 NR1D1 PER2
4 vision/eye MP:0005391 9.32 BMAL1 CRY1 CRY2 FBXL13 NFIL3 NPAS2

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 Proteomic and Transcriptomic Biomarkers of Circadian Timing Recruiting NCT03956745
2 Proteomic and Transcriptomic Biomarkers of Circadian Timing - Validation of Circadian Biomarkers in Patients With Sleep Disorders Recruiting NCT04690504
3 Circadian Rhythms and Sleep in Familial Delayed Sleep Phase Syndrome (DSPS) and Advanced Sleep Phase Syndrome (ASPS) Recruiting NCT00246454
4 Breath Biomarkers for Sleep Loss and Circadian Timing Active, not recruiting NCT03980340

Search NIH Clinical Center for Advanced Sleep Phase Syndrome

Genetic Tests for Advanced Sleep Phase Syndrome

Anatomical Context for Advanced Sleep Phase Syndrome

Organs/tissues related to Advanced Sleep Phase Syndrome:

MalaCards : Hypothalamus, Brain

Publications for Advanced Sleep Phase Syndrome

Articles related to Advanced Sleep Phase Syndrome:

(show top 50) (show all 87)
# Title Authors PMID Year
1
[Functional polymorphisms in clock genes and circadian rhythm sleep disorders]. 53 62
17633519 2007
2
Circadian rhythms in the CNS and peripheral clock disorders: human sleep disorders and clock genes. 53 62
17299246 2007
3
A circadian sleep disorder reveals a complex clock. 53 62
17218251 2007
4
Role of phosphorylation in the mammalian circadian clock. 53 62
18419274 2007
5
Differential effects of PER2 phosphorylation: molecular basis for the human familial advanced sleep phase syndrome (FASPS). 53 62
16983144 2006
6
Genetics of the sleep-wake cycle and its disorders. 53 62
16979429 2006
7
From circadian clock mechanism to sleep disorders and jet lag: Insights from a computational approach. 62
33617843 2021
8
Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the PER2 circadian rhythm gene. 62
33474825 2021
9
CK2 Inhibits TIMELESS Nuclear Export and Modulates CLOCK Transcriptional Activity to Regulate Circadian Rhythms. 62
33217322 2021
10
Recent Advances in the Development of Casein Kinase 1 Inhibitors. 62
32660395 2021
11
"Circadian misalignment and the gut microbiome. A bidirectional relationship triggering inflammation and metabolic disorders"- a literature review. 62
32559717 2020
12
Genetics of migraine aura: an update. 62
32503413 2020
13
NAD+ Controls Circadian Reprogramming through PER2 Nuclear Translocation to Counter Aging. 62
32369735 2020
14
Genetic mouse models of migraine. 62
31299902 2019
15
Optimized 4,5-Diarylimidazoles as Potent/Selective Inhibitors of Protein Kinase CK1δ and Their Structural Relation to p38α MAPK. 62
28338621 2017
16
A FERONIA-Like Receptor Kinase Regulates Strawberry (Fragaria × ananassa) Fruit Ripening and Quality Formation. 62
28702036 2017
17
Rigid Cooperation of Per1 and Per2 proteins. 62
27609640 2016
18
Animal models of monogenic migraine. 62
27154999 2016
19
From migraine genes to mechanisms. 62
25789438 2015
20
PER1 phosphorylation specifies feeding rhythm in mice. 62
24857656 2014
21
Migraine and sleep: new connections. 62
24765233 2013
22
Genetic and immunologic aspects of sleep and sleep disorders. 62
23648914 2013
23
Neurodegenerative Disease and REM Behavior Disorder. 62
22879077 2012
24
Cognitive and behavioral treatment options for insomnia. 62
22786741 2012
25
The circadian mutation PER2(S662G) is linked to cell cycle progression and tumorigenesis. 62
21818120 2012
26
An association analysis of Per2 with panic disorder in the Japanese population. 62
21814225 2011
27
The period of the circadian oscillator is primarily determined by the balance between casein kinase 1 and protein phosphatase 1. 62
21930935 2011
28
Casein kinase 1-dependent phosphorylation of familial advanced sleep phase syndrome-associated residues controls PERIOD 2 stability. 62
21324900 2011
29
[Genetics of sleep]. 62
21786645 2011
30
miRNA-132 orchestrates chromatin remodeling and translational control of the circadian clock. 62
21118894 2011
31
Disease and Degeneration of Aging Neural Systems that Integrate Sleep Drive and Circadian Oscillations. 62
22028699 2011
32
Behavioral and genetic dissection of a mouse model for advanced sleep phase syndrome. 62
21203370 2011
33
Modelling the dual role of Per phosphorylation and its effect on the period and phase of the mammalian circadian clock. 62
21261401 2011
34
Segregation of expression of mPeriod gene homologs in neurons and glia: possible divergent roles of mPeriod1 and mPeriod2 in the brain. 62
19477955 2009
35
[Timekeeping molecules: implications for circadian phenotypes]. 62
19506779 2009
36
Disruption of the circadian timing systems: molecular mechanisms in mood disorders. 62
19708722 2009
37
The roles of melatonin and light in the pathophysiology and treatment of circadian rhythm sleep disorders. 62
18628753 2008
38
Modeling the circadian clock: from molecular mechanism to physiological disorders. 62
18478538 2008
39
The genetic basis of sleep disorders. 62
19075715 2008
40
Protein kinase A and casein kinases mediate sequential phosphorylation events in the circadian negative feedback loop. 62
18079175 2007
41
Circadian rhythmicity and the pharmacologic management of insomnia. 62
18041873 2007
42
[Normal and disordered sleep]. 62
17652992 2007
43
Narcolepsy and familial advanced sleep-phase syndrome: molecular genetics of sleep disorders. 62
17467264 2007
44
Beyond intuitive modeling: combining biophysical models with innovative experiments to move the circadian clock field forward. 62
17517910 2007
45
Practice parameters for the use of actigraphy in the assessment of sleep and sleep disorders: an update for 2007. 62
17520797 2007
46
Novel insights from genetic and molecular characterization of the human clock. 62
18419283 2007
47
Modeling of a human circadian mutation yields insights into clock regulation by PER2. 62
17218255 2007
48
Circadian rhythm sleep disorders and phototherapy. 62
17118278 2006
49
Genetic basis for sleep regulation and sleep disorders. 62
17048148 2006
50
Sleep in persons with dementia: Increasing quality of life by managing sleep disorders. 62
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

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 chromatoid body GO:0033391 9.26 CLOCK BMAL1
2 CLOCK-BMAL transcription complex GO:1990513 9.1 NPAS2 CLOCK BMAL1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.48 PER3 PER2 PER1 NR1D1 NFIL3 CRY2
2 negative regulation of DNA-templated transcription GO:0045892 10.4 BHLHE41 BMAL1 CLOCK CRY1 CRY2 NFIL3
3 circadian regulation of gene expression GO:0032922 10.34 BMAL1 BHLHE41 PER3 PER2 PER1 NR1D1
4 circadian rhythm GO:0007623 10.18 TIMELESS PER3 PER2 PER1 NR1D1 NFIL3
5 entrainment of circadian clock by photoperiod GO:0043153 10.15 PER3 PER2 PER1 FBXL3 CRY2 CRY1
6 response to insulin GO:0032868 10.09 CRY2 CRY1 AANAT
7 regulation of insulin secretion GO:0050796 10.07 PER2 CLOCK BMAL1
8 regulation of neurogenesis GO:0050767 10.06 BHLHE41 BMAL1 PER2
9 negative regulation of glucocorticoid receptor signaling pathway GO:2000323 10.02 BMAL1 CLOCK CRY1 CRY2 PER1
10 response to light stimulus GO:0009416 9.98 PER1 CRY2 CRY1 AANAT
11 response to redox state GO:0051775 9.97 NPAS2 CLOCK BMAL1
12 negative regulation of circadian rhythm GO:0042754 9.95 CRY1 CRY2 PER2
13 regulation of hair cycle GO:0042634 9.93 PER1 CLOCK BMAL1
14 rhythmic process GO:0048511 9.93 TIMELESS PER3 PER2 PER1 OPN4 NR1D1
15 histone H3 deacetylation GO:0070932 9.92 PER2 PER1
16 positive regulation of circadian rhythm GO:0042753 9.91 CLOCK BMAL1
17 positive regulation of non-canonical Wnt signaling pathway GO:2000052 9.9 CSNK1E CSNK1D
18 circadian regulation of translation GO:0097167 9.87 PER1 PER2
19 regulation of type B pancreatic cell development GO:2000074 9.86 BMAL1 CLOCK
20 negative regulation of glucocorticoid secretion GO:2000850 9.85 CRY2 CRY1
21 positive regulation of Wnt-mediated midbrain dopaminergic neuron differentiation GO:1905426 9.84 CSNK1E CSNK1D
22 blue light signaling pathway GO:0009785 9.83 CRY2 CRY1
23 photoperiodism GO:0009648 9.81 CLOCK AANAT
24 regulation of circadian rhythm GO:0042752 9.66 TIMELESS PER2 PER1 OPN4 NR1D1 FBXL3

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.35 TIMELESS NR1D1 NPAS2 NFIL3 CRY2 CRY1
2 transcription cis-regulatory region binding GO:0000976 10.03 PER3 PER2 PER1 NR1D1 CRY2 BMAL1
3 protein dimerization activity GO:0046983 10 NPAS2 CLOCK BMAL1 BHLHE41
4 kinase binding GO:0019900 9.91 PER3 PER1 CRY2 CRY1
5 transcription corepressor binding GO:0001222 9.76 PER3 PER2 PER1 NR1D1
6 blue light photoreceptor activity GO:0009882 9.71 CRY2 CRY1
7 E-box binding GO:0070888 9.4 PER1 NR1D1 CRY1 CLOCK BMAL1 BHLHE41
8 deoxyribodipyrimidine photo-lyase activity GO:0003904 9.37 CRY1 CRY2
9 DNA (6-4) photolyase activity GO:0003914 9.32 CRY1 CRY2
10 photoreceptor activity GO:0009881 9.13 OPN4 CRY2 CRY1

Sources for Advanced Sleep Phase Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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