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FASPS
MCID: ADV001
MIFTS: 41

Advanced Sleep Phase Syndrome (FASPS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways
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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 20 58 54
Familial Advanced Sleep-Phase Syndrome 12 58
Familial Advanced Sleep Phase Syndrome 20 36
Sleep Phase Syndrome, Advanced, Familial 39
Advanced Sleep Phase Syndrome, Familial 20
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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GARD : 20 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 advanced sleep phase syndrome, familial, 1 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. 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...

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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 25)
# Related Disease Score Top Affiliating Genes
1 advanced sleep phase syndrome, familial, 1 32.8 PER3 PER2 NPAS2 CRY2 CRY1 CLOCK
2 delayed sleep phase disorder 29.0 PER3 PER2 OPN4 NR1D1 NPAS2 HCRT
3 sleep disorder 28.8 PER3 PER2 OPN4 NR1D1 NPAS2 HCRTR2
4 advanced sleep phase syndrome, familial, 2 12.0
5 advanced sleep phase syndrome, familial, 3 12.0
6 alveolar soft part sarcoma 10.3
7 bile duct cystadenoma 10.3 PER3 CLOCK ARNTL
8 rohhad 10.2 HCRTR2 HCRT
9 bipolar i disorder 10.2 TIMELESS PER3 ARNTL
10 kleine-levin hibernation syndrome 10.2 HCRTR2 HCRT
11 recurrent hypersomnia 10.2 PER2 HCRTR2 HCRT
12 cluster headache 10.2 HCRTR2 CLOCK
13 schizoaffective disorder 10.1 TIMELESS PER3 NPAS2 ARNTL
14 mental depression 10.1 OPN4 NPAS2 CLOCK ARNTL
15 von economo's disease 10.1 HCRTR2 HCRT
16 gum cancer 10.0 PER3 PER2 CSNK1E CRY2 CRY1 ARNTL
17 rem sleep behavior disorder 10.0 PER2 PER1 NR1D1 HCRT ARNTL
18 periodic limb movement disorder 10.0 HCRTR2 HCRT
19 hematuria, benign familial 10.0 OPN4 HCRTR2 HCRT ARNTL
20 narcolepsy 10.0
21 dysthymic disorder 10.0 HCRT CRY2
22 migraine with or without aura 1 10.0 OPN4 HCRTR2 HCRT CSNK1D
23 major depressive disorder 9.6 PER3 OPN4 NR1D1 NPAS2 HCRT CRY2
24 bipolar disorder 9.6 TIMELESS PER3 PER2 NR1D1 NPAS2 CSNK1E
25 disease of mental health 8.9 TIMELESS PER3 PER2 OPN4 NR1D1 NPAS2

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 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 TIMELESS
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 NALCN PER3 TIMELESS
12 Decreased viability GR00402-S-2 9.83 AANAT ARNTL CRY1 FBXL3 HCRT NALCN

MGI Mouse Phenotypes related to Advanced Sleep Phase Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 ARNTL CLOCK CRY1 CRY2 CSNK1D CSNK1E
2 nervous system MP:0003631 9.86 AANAT ARNTL CLOCK CRY1 CRY2 CSNK1E
3 no phenotypic analysis MP:0003012 9.17 CLOCK CSNK1D CSNK1E NALCN NR1D1 PER2
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Drugs & Therapeutics for Advanced Sleep Phase Syndrome

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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, 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 88)
# Title Authors PMID Year
1
Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome. 6 61
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. 61 54
17299246 2007
7
A circadian sleep disorder reveals a complex clock. 61 54
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). 61 54
16983144 2006
10
Genetics of the sleep-wake cycle and its disorders. 61 54
16979429 2006
11
CK2 Inhibits TIMELESS Nuclear Export and Modulates CLOCK Transcriptional Activity to Regulate Circadian Rhythms. 61
33217322 2021
12
Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the PER2 circadian rhythm gene. 61
33474825 2021
13
"Circadian misalignment and the gut microbiome. A bidirectional relationship triggering inflammation and metabolic disorders"- a literature review. 61
32559717 2020
14
Recent Advances in the Development of Casein Kinase 1 Inhibitors. 61
32660395 2020
15
Genetics of migraine aura: an update. 61
32503413 2020
16
NAD+ Controls Circadian Reprogramming through PER2 Nuclear Translocation to Counter Aging. 61
32369735 2020
17
Genetic mouse models of migraine. 61
31299902 2019
18
Optimized 4,5-Diarylimidazoles as Potent/Selective Inhibitors of Protein Kinase CK1δ and Their Structural Relation to p38α MAPK. 61
28338621 2017
19
A FERONIA-Like Receptor Kinase Regulates Strawberry (Fragaria × ananassa) Fruit Ripening and Quality Formation. 61
28702036 2017
20
Rigid Cooperation of Per1 and Per2 proteins. 61
27609640 2016
21
Animal models of monogenic migraine. 61
27154999 2016
22
From migraine genes to mechanisms. 61
25789438 2015
23
PER1 phosphorylation specifies feeding rhythm in mice. 61
24857656 2014
24
Migraine and sleep: new connections. 61
24765233 2013
25
Genetic and immunologic aspects of sleep and sleep disorders. 61
23648914 2013
26
Neurodegenerative Disease and REM Behavior Disorder. 61
22879077 2012
27
Cognitive and behavioral treatment options for insomnia. 61
22786741 2012
28
The circadian mutation PER2(S662G) is linked to cell cycle progression and tumorigenesis. 61
21818120 2012
29
An association analysis of Per2 with panic disorder in the Japanese population. 61
21814225 2011
30
The period of the circadian oscillator is primarily determined by the balance between casein kinase 1 and protein phosphatase 1. 61
21930935 2011
31
Casein kinase 1-dependent phosphorylation of familial advanced sleep phase syndrome-associated residues controls PERIOD 2 stability. 61
21324900 2011
32
[Genetics of sleep]. 61
21786645 2011
33
miRNA-132 orchestrates chromatin remodeling and translational control of the circadian clock. 61
21118894 2011
34
Disease and Degeneration of Aging Neural Systems that Integrate Sleep Drive and Circadian Oscillations. 61
22028699 2011
35
Modelling the dual role of Per phosphorylation and its effect on the period and phase of the mammalian circadian clock. 61
21261401 2011
36
Behavioral and genetic dissection of a mouse model for advanced sleep phase syndrome. 61
21203370 2011
37
Segregation of expression of mPeriod gene homologs in neurons and glia: possible divergent roles of mPeriod1 and mPeriod2 in the brain. 61
19477955 2009
38
[Timekeeping molecules: implications for circadian phenotypes]. 61
19506779 2009
39
Disruption of the circadian timing systems: molecular mechanisms in mood disorders. 61
19708722 2009
40
The roles of melatonin and light in the pathophysiology and treatment of circadian rhythm sleep disorders. 61
18628753 2008
41
Modeling the circadian clock: from molecular mechanism to physiological disorders. 61
18478538 2008
42
The genetic basis of sleep disorders. 61
19075715 2008
43
Protein kinase A and casein kinases mediate sequential phosphorylation events in the circadian negative feedback loop. 61
18079175 2007
44
Circadian rhythmicity and the pharmacologic management of insomnia. 61
18041873 2007
45
[Normal and disordered sleep]. 61
17652992 2007
46
Beyond intuitive modeling: combining biophysical models with innovative experiments to move the circadian clock field forward. 61
17517910 2007
47
Narcolepsy and familial advanced sleep-phase syndrome: molecular genetics of sleep disorders. 61
17467264 2007
48
Practice parameters for the use of actigraphy in the assessment of sleep and sleep disorders: an update for 2007. 61
17520797 2007
49
Modeling of a human circadian mutation yields insights into clock regulation by PER2. 61
17218255 2007
50
Novel insights from genetic and molecular characterization of the human clock. 61
18419283 2007
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Variations for Advanced Sleep Phase Syndrome

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ClinVar genetic disease variations for Advanced Sleep Phase Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PER2 NM_022817.3(PER2):c.1984A>G (p.Ser662Gly) SNV Pathogenic 6345 rs121908635 2:239165644-239165644 2:238257003-238257003
2 CSNK1D NM_139062.4(CSNK1D):c.130A>G (p.Thr44Ala) SNV Pathogenic 8741 rs104894561 17:80223619-80223619 17:82265743-82265743
3 CSNK1D NM_139062.4(CSNK1D):c.137A>G (p.His46Arg) SNV Pathogenic 50319 rs397514693 17:80223612-80223612 17:82265736-82265736
4 PER3 NM_016831.3(PER3):c.1247A>G (p.His416Arg) SNV Pathogenic 224889 rs139315125 1:7869960-7869960 1:7809900-7809900
5 PER3 NM_016831.3(PER3):c.1247A>G (p.His416Arg) SNV Pathogenic 242411 rs139315125 1:7869960-7869960 1:7809900-7809900
6 PER3 NM_016831.3(PER3):c.1240C>G (p.Pro414Ala) SNV Pathogenic 242410 rs150812083 1:7869953-7869953 1:7809893-7809893
7 PER2 NM_022817.3(PER2):c.595del (p.Leu199fs) Deletion Pathogenic 634825 rs1559332542 2:239180130-239180130 2:238271489-238271489
8 PER2 NM_022817.3(PER2):c.2963C>T (p.Pro988Leu) SNV Uncertain significance 634824 rs1559323041 2:239161701-239161701 2:238253060-238253060
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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
 12.53 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
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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 10 TIMELESS PER3 PER2 PER1 NR1D1 NPAS2
2 cytoplasm GO:0005737 9.83 PER3 PER2 PER1 NR1D1 NPAS2 HCRT
3 chromatoid body GO:0033391 9.26 CLOCK ARNTL
4 CLOCK-BMAL transcription complex GO:1990513 8.62 NPAS2 CLOCK

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

(show all 28)
# 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 10.06 TIMELESS PER2 PER1 NR1D1 CRY2 CRY1
3 positive regulation of transcription, DNA-templated GO:0045893 10.04 PER2 NR1D1 NPAS2 CLOCK ARNTL
4 regulation of circadian rhythm GO:0042752 10 TIMELESS PER2 PER1 OPN4 NR1D1 FBXL3
5 circadian rhythm GO:0007623 9.9 TIMELESS PER2 PER1 NR1D1 NPAS2 CRY2
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 9.8 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 9.76 PER2 BHLHE41 ARNTL
11 response to light stimulus GO:0009416 9.73 PER1 CRY2 CRY1 AANAT
12 circadian regulation of gene expression GO:0032922 9.73 PER3 PER2 PER1 NR1D1 NPAS2 CSNK1E
13 negative regulation of glucocorticoid receptor signaling pathway GO:2000323 9.72 PER1 CRY2 CRY1 CLOCK ARNTL
14 protein-chromophore linkage GO:0018298 9.7 OPN4 CRY2 CRY1
15 response to redox state GO:0051775 9.67 NPAS2 CLOCK ARNTL
16 negative regulation of circadian rhythm GO:0042754 9.65 PER2 CRY2 CRY1
17 lipid storage GO:0019915 9.63 CRY2 CRY1
18 regulation of hair cycle GO:0042634 9.63 PER1 CLOCK ARNTL
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 circadian regulation of translation GO:0097167 9.59 PER2 PER1
23 regulation of type B pancreatic cell development GO:2000074 9.58 CLOCK ARNTL
24 photoperiodism GO:0009648 9.57 CLOCK AANAT
25 negative regulation of glucocorticoid secretion GO:2000850 9.56 CRY2 CRY1
26 positive regulation of Wnt-mediated midbrain dopaminergic neuron differentiation GO:1905426 9.55 CSNK1E CSNK1D
27 blue light signaling pathway GO:0009785 9.54 CRY2 CRY1
28 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 13)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.43 TIMELESS PER3 PER2 PER1 OPN4 NR1D1
2 DNA binding GO:0003677 10.11 TIMELESS NR1D1 NPAS2 CRY2 CRY1 CLOCK
3 sequence-specific double-stranded DNA binding GO:1990837 9.88 NR1D1 NPAS2 CLOCK BHLHE41 ARNTL
4 protein dimerization activity GO:0046983 9.73 NPAS2 CLOCK BHLHE41 ARNTL
5 kinase binding GO:0019900 9.67 PER1 CRY2 CRY1
6 transcription regulatory region sequence-specific DNA binding GO:0000976 9.63 PER3 PER2 PER1 NR1D1 CRY2 ARNTL
7 nuclear hormone receptor binding GO:0035257 9.52 CRY2 CRY1
8 photoreceptor activity GO:0009881 9.43 OPN4 CRY2 CRY1
9 blue light photoreceptor activity GO:0009882 9.4 CRY2 CRY1
10 DNA (6-4) photolyase activity GO:0003914 9.37 CRY2 CRY1
11 deoxyribodipyrimidine photo-lyase activity GO:0003904 9.32 CRY2 CRY1
12 transcription corepressor binding GO:0001222 9.26 PER3 PER2 PER1 NR1D1
13 E-box binding GO:0070888 9.1 PER1 NR1D1 CRY1 CLOCK BHLHE41 ARNTL
Sources

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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