Advanced Sleep Phase Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Episodic and paroxysmal disorders

Sleep disorders

Disorders of the sleep-wake schedule

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

UMLS ⁷³ C0751758 C1858496

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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...

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Related Diseases for Advanced Sleep Phase Syndrome

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	Advanced Sleep Phase Syndrome 2

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

#	Related Disease	Score	Top Affiliating Genes
1	sleep disorder	28.5	HCRT PER2 PER3
2	advanced sleep phase syndrome, familial, 1	12.7
3	advanced sleep phase syndrome, familial, 2	12.7
4	advanced sleep phase syndrome, familial, 3	12.7
5	advanced sleep phase syndrome 2	12.6
6	short sleeper	11.1
7	narcolepsy	9.7
8	delayed sleep phase disorder	9.2	CLOCK PER2 PER3
9	cluster headache	8.9	CLOCK HCRT

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

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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

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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

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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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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 )	Shanware N.P....Tibbetts R.S.	2011
2	Behavioral and genetic dissection of a mouse model for advanced sleep phase syndrome. ( 21203370 )	Jiang P....O'Hara B.F.	2011
3	Narcolepsy and familial advanced sleep-phase syndrome: molecular genetics of sleep disorders. ( 17467264 )	Tafti M....Overeem S.	2007
4	Differential effects of PER2 phosphorylation: molecular basis for the human familial advanced sleep phase syndrome (FASPS). ( 16983144 )	Vanselow K....Kramer A.	2006
5	Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome. ( 15800623 )	Xu Y....Fu Y.H.	2005
6	Efficacy of enhanced evening light for advanced sleep phase syndrome. ( 15602801 )	Palmer C.R....Elliott J.A.	2003
7	Two pedigrees of familial advanced sleep phase syndrome in Japan. ( 12841366 )	Satoh K....Shimizu T.	2003
8	Article reviewed: Familial advanced sleep phase syndrome. ( 14592240 )	Zucconi M.	2002
9	An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. ( 11232563 )	Toh K.L....Fu Y.-H.	2001
10	Familial advanced sleep phase syndrome. ( 11448298 )	Reid K.J....Zee P.C.	2001
11	[Advanced sleep phase syndrome]. ( 11924025 )	OndzAc B....Billiard M.	2001
12	Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans. ( 10470086 )	Jones C.R....PtA!cek L.J.	1999
13	Treatment of a case of advanced sleep phase syndrome by phase advance chronotherapy. ( 3961368 )	Moldofsky H....Phillipson E.A.	1986

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Genes for Advanced Sleep Phase Syndrome

Genes related to Advanced Sleep Phase Syndrome (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PER2	Period Circadian Regulator 2	Protein Coding	418.74	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	17299246 18419274 16983144 (more) 16979429 17633519 17218251
2	PER3	Period Circadian Regulator 3	Protein Coding	405.23	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	16979429
3	CSNK1D	Casein Kinase 1 Delta	Protein Coding	394.51	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
4	CSNK1E	Casein Kinase 1 Epsilon	Protein Coding	22.41	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
5	PER1	Period Circadian Regulator 1	Protein Coding	17.44	GeneCards inferred via : Publications (show sections)
6	CABP4	Calcium Binding Protein 4	Protein Coding	16.48	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	AANAT	Aralkylamine N-Acetyltransferase	Protein Coding	16.14	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	HCRT	Hypocretin Neuropeptide Precursor	Protein Coding	15.4	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	CLOCK	Clock Circadian Regulator	Protein Coding	15.29	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	TIMELESS	Timeless Circadian Regulator	Protein Coding	15.11	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Advanced Sleep Phase Syndrome

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Expression for Advanced Sleep Phase Syndrome

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

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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	Circadian entrainment ³⁷ Show member pathways Cholinergic synapse ³⁷ Dopaminergic synapse ³⁷ Estrogen signaling pathway ³⁷ Glutamatergic synapse ³⁷ Relaxin receptors ⁶⁶ Relaxin signaling pathway ³⁷ Synaptic Neurotransmission Pathways: Glutamatergic Excitation ⁶⁵	12.65	CLOCK PER1 PER2 PER3
2	Influenza A ³⁷ Show member pathways Herpes simplex infection ³⁷ Measles ³⁷	12.42	CLOCK PER1 PER2 PER3
3	Neuroscience ⁴	12.25	CSNK1D CSNK1E HCRT
4	BMAL1-CLOCK,NPAS2 activates circadian gene expression ⁶⁶ Show member pathways Circadian Clock ⁶⁶ NR1D1 (REV-ERBA) represses gene expression ⁶⁶ RORA activates gene expression ⁶⁶ YAP1- and WWTR1 (TAZ)-stimulated gene expression ⁶⁶	11.97	CLOCK CSNK1D CSNK1E PER1 PER2
5	Circadian rythm related genes ¹	11.54	AANAT CLOCK CSNK1D CSNK1E PER1 PER2
6	p53 pathway ¹	11.29	CSNK1D CSNK1E
7	Circadian rhythm ³⁷ Show member pathways Circadian Clock in Mammals ⁶⁴	11.27	CLOCK CSNK1D CSNK1E PER1 PER2 PER3
8	Wnt Signaling Pathway Netpath ¹	11.23	CSNK1D CSNK1E
9	Diurnally Regulated Genes with Circadian Orthologs ¹	11.23	CLOCK PER1 PER2
10	FoxO family signaling ¹	11.18	CSNK1D CSNK1E
11	Melatonin metabolism and effects ¹	11	CLOCK CSNK1D CSNK1E PER1 PER2 PER3
12	DARPP-32 Phosphorylation ⁶⁵	10.8	CSNK1D CSNK1E
13	Circadian rhythm pathway ¹	10.7	CLOCK CSNK1E PER1 TIMELESS
14	Metabolic States and Circadian Oscillators ⁶⁴ Show member pathways lactate fermentation (reoxidation of cytosolic NADH) ¹	10.48	CLOCK PER1

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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

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