MCID: ADV001
MIFTS: 37

Advanced Sleep Phase Syndrome

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 77 56 15 74
Fasps 54 60 56
Advanced Sleep Phase Syndrome, Familial 54 41
Familial Advanced Sleep-Phase Syndrome 12 60
Familial Advanced Sleep Phase Syndrome 54 38
Advanced Sleep-Phase Syndrome, Familial 74

Characteristics:

Orphanet epidemiological data:

60
familial advanced sleep-phase syndrome
Inheritance: Autosomal dominant; Age of onset: Adolescent,Childhood;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050628
KEGG 38 H00688
ICD10 via Orphanet 35 G47.2
UMLS via Orphanet 75 C1858496
Orphanet 60 ORPHA164736

Summaries for Advanced Sleep Phase Syndrome

NIH Rare Diseases : 54 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 advanced sleep phase syndrome, familial, 1 and advanced sleep phase syndrome, familial, 2. 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 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 : 77 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:

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.5 CLOCK CSNK1D CSNK1E HCRT PER1 PER2
2 nervous system MP:0003631 9.23 AANAT CABP4 CLOCK CSNK1E HCRT PER1

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
2 Biomarkers for Circadian Timing Not yet recruiting NCT03956745

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:

42
Hypothalamus

Publications for Advanced Sleep Phase Syndrome

Articles related to Advanced Sleep Phase Syndrome:

(show all 13)
# Title Authors Year
1
Behavioral and genetic dissection of a mouse model for advanced sleep phase syndrome. ( 21203370 )
2011
2
Casein kinase 1-dependent phosphorylation of familial advanced sleep phase syndrome-associated residues controls PERIOD 2 stability. ( 21324900 )
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
Two pedigrees of familial advanced sleep phase syndrome in Japan. ( 12841366 )
2003
7
Efficacy of enhanced evening light for advanced sleep phase syndrome. ( 15602801 )
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:

38
# 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 cytoplasm GO:0005737 9.61 AANAT CABP4 CLOCK CSNK1D CSNK1E HCRT
2 perinuclear region of cytoplasm GO:0048471 9.02 AANAT CSNK1D DAOA 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 regulation of circadian rhythm GO:0042752 9.62 CSNK1D CSNK1E PER1 PER2
2 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.57 CSNK1D CSNK1E
3 regulation of insulin secretion GO:0050796 9.56 CLOCK PER2
4 response to light stimulus GO:0009416 9.56 AANAT PER1 PER2 PER3
5 peptidyl-threonine phosphorylation GO:0018107 9.55 CSNK1D CSNK1E
6 circadian rhythm GO:0007623 9.55 AANAT CLOCK PER1 PER2 PER3
7 response to cAMP GO:0051591 9.54 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 negative regulation of glucocorticoid receptor signaling pathway GO:2000323 9.51 CLOCK PER1
11 regulation of hair cycle GO:0042634 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 9.17 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 9.43 PER1 PER2 PER3
2 chromatin DNA binding GO:0031490 9.32 CLOCK PER1
3 E-box binding GO:0070888 9.16 CLOCK PER1
4 transcription regulatory region sequence-specific DNA binding GO:0000976 9.13 PER1 PER2 PER3
5 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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