MCID: ADV001
MIFTS: 36

Advanced Sleep Phase Syndrome

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

Aliases & Classifications for Advanced Sleep Phase Syndrome

MalaCards integrated aliases for Advanced Sleep Phase Syndrome:

Name: Advanced Sleep Phase Syndrome 12 76 55 15 73
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 73

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
Orphanet 59 ORPHA164736
ICD10 via Orphanet 34 G47.2
UMLS via Orphanet 74 C1858496
KEGG 37 H00688

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: 164736Disease definitionFamilial 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 advanced sleep phase syndrome, familial, 1. 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. 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.

Wikipedia : 76 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 9.7 CLOCK CSNK1D CSNK1E HCRT PER1 PER2
2 nervous system MP:0003631 9.56 CABP4 CLOCK CSNK1E HCRT PER1 PER2
3 no phenotypic analysis MP:0003012 9.02 CLOCK CSNK1D CSNK1E PER2 TIMELESS

Drugs & Therapeutics for Advanced Sleep Phase Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Circadian Rhythms and Sleep in Familial DSPS and 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

Publications for Advanced Sleep Phase Syndrome

Articles related to Advanced Sleep Phase Syndrome:

(show all 13)
# Title Authors Year
1
Casein kinase 1-dependent phosphorylation of familial advanced sleep phase syndrome-associated residues controls PERIOD 2 stability. ( 21324900 )
2011
2
Behavioral and genetic dissection of a mouse model for advanced sleep phase syndrome. ( 21203370 )
2011
3
Narcolepsy and familial advanced sleep-phase syndrome: molecular genetics of sleep disorders. ( 17467264 )
2007
4
Differential effects of PER2 phosphorylation: molecular basis for the human familial advanced sleep phase syndrome (FASPS). ( 16983144 )
2006
5
Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome. ( 15800623 )
2005
6
Efficacy of enhanced evening light for advanced sleep phase syndrome. ( 15602801 )
2003
7
Two pedigrees of familial advanced sleep phase syndrome in Japan. ( 12841366 )
2003
8
Article reviewed: Familial advanced sleep phase syndrome. ( 14592240 )
2002
9
An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. ( 11232563 )
2001
10
Familial advanced sleep phase syndrome. ( 11448298 )
2001
11
[Advanced sleep phase syndrome]. ( 11924025 )
2001
12
Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans. ( 10470086 )
1999
13
Treatment of a case of advanced sleep phase syndrome by phase advance chronotherapy. ( 3961368 )
1986

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

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.65 CLOCK PER1 PER2 PER3
2
Show member pathways
12.42 CLOCK PER1 PER2 PER3
3 12.25 CSNK1D CSNK1E HCRT
4
Show member pathways
11.97 CLOCK CSNK1D CSNK1E PER1 PER2
6 11.29 CSNK1D CSNK1E
7
Show member pathways
11.27 CLOCK CSNK1D CSNK1E PER1 PER2 PER3
8 11.23 CSNK1D CSNK1E
9 11.23 CLOCK PER1 PER2
10 11.18 CSNK1D CSNK1E
11 11 CLOCK CSNK1D CSNK1E PER1 PER2 PER3
12 10.8 CSNK1D CSNK1E
13 10.7 CLOCK CSNK1E PER1 TIMELESS
14
Show member pathways
10.48 CLOCK PER1

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 9.28 AANAT CABP4 CLOCK CSNK1D CSNK1E HCRT
2 perinuclear region of cytoplasm GO:0048471 9.26 AANAT CSNK1D HCRT PER2

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 negative regulation of transcription by RNA polymerase II GO:0000122 9.86 PER1 PER2 PER3 TIMELESS
2 negative regulation of transcription, DNA-templated GO:0045892 9.84 CLOCK PER1 PER2 TIMELESS
3 regulation of circadian rhythm GO:0042752 9.65 CSNK1D CSNK1E PER1 PER2 TIMELESS
4 circadian rhythm GO:0007623 9.63 AANAT CLOCK PER1 PER2 PER3 TIMELESS
5 response to light stimulus GO:0009416 9.62 AANAT PER1 PER2 PER3
6 regulation of insulin secretion GO:0050796 9.57 CLOCK PER2
7 response to cAMP GO:0051591 9.55 AANAT PER1
8 entrainment of circadian clock by photoperiod GO:0043153 9.54 PER1 PER2 PER3
9 histone H3 deacetylation GO:0070932 9.52 PER1 PER2
10 regulation of hair cycle GO:0042634 9.51 CLOCK PER1
11 negative regulation of glucocorticoid receptor signaling pathway GO:2000323 9.49 CLOCK PER1
12 positive regulation of non-canonical Wnt signaling pathway GO:2000052 9.48 CSNK1D CSNK1E
13 circadian regulation of translation GO:0097167 9.46 PER1 PER2
14 photoperiodism GO:0009648 9.43 AANAT CLOCK
15 circadian regulation of gene expression GO:0032922 9.43 CLOCK CSNK1D CSNK1E PER1 PER2 PER3
16 positive regulation of Wnt-mediated midbrain dopaminergic neuron differentiation GO:1905426 9.4 CSNK1D CSNK1E
17 rhythmic process GO:0048511 9.23 AANAT CLOCK CSNK1D CSNK1E PER1 PER2

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 9.5 PER1 PER2 PER3
2 chromatin DNA binding GO:0031490 9.37 CLOCK PER1
3 transcription regulatory region sequence-specific DNA binding GO:0000976 9.33 PER1 PER2 PER3
4 E-box binding GO:0070888 9.26 CLOCK PER1
5 transcription factor activity, transcription factor binding GO:0000989 9.13 PER1 PER2 PER3
6 transcription corepressor binding GO:0001222 8.8 PER1 PER2 PER3

Sources for Advanced Sleep Phase Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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