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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the nervous system

Episodic and paroxysmal disorders

Sleep disorders

Disorders of the sleep-wake schedule

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

UMLS ⁷⁴ C0751758 C1858496

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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...

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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:

(show all 15)

#	Related Disease	Score	Top Affiliating Genes
1	advanced sleep phase syndrome, familial, 1	13.0
2	advanced sleep phase syndrome, familial, 2	13.0
3	advanced sleep phase syndrome, familial, 3	12.9
4	advanced sleep phase syndrome 2	12.8
5	short sleeper	11.3
6	multiple sclerosis	10.0
7	triiodothyronine receptor auxiliary protein	10.0
8	horns in sheep	10.0
9	leukemia, acute myeloid	10.0
10	leukemia	10.0
11	myeloid leukemia	10.0
12	narcolepsy	9.8
13	sleep disorder	9.6	HCRT PER2 PER3
14	mood disorder	9.3	CLOCK DAOA PER3
15	delayed sleep phase disorder	9.0	AANAT CABP4 CLOCK PER2 PER3

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:

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

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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
2	Biomarkers for Circadian Timing	Not yet recruiting	NCT03956745

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

MalaCards organs/tissues related to Advanced Sleep Phase Syndrome:

⁴²

Hypothalamus

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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 )	Jiang P...O'Hara BF	2011
2	Casein kinase 1-dependent phosphorylation of familial advanced sleep phase syndrome-associated residues controls PERIOD 2 stability. ( 21324900 )	Shanware NP...Tibbetts RS	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 YH	2005
6	Two pedigrees of familial advanced sleep phase syndrome in Japan. ( 12841366 )	Satoh K...Shimizu T	2003
7	Efficacy of enhanced evening light for advanced sleep phase syndrome. ( 15602801 )	Palmer CR...Elliott JA	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 KL...Fu YH	2001
10	Familial advanced sleep phase syndrome. ( 11448298 )	Reid KJ...Zee PC	2001
11	[Advanced sleep phase syndrome]. ( 11924025 )	Ondz? B...Billiard M	2001
12	Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans. ( 10470086 )	Jones CR...Pt?cek LJ	1999
13	Treatment of a case of advanced sleep phase syndrome by phase advance chronotherapy. ( 3961368 )	Moldofsky H...Phillipson EA	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	418.35	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	17299246 18419274 16983144 (more) 16979429 17633519 17218251
2	PER3	Period Circadian Regulator 3	Protein Coding	404.82	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	16979429
3	CSNK1D	Casein Kinase 1 Delta	Protein Coding	394.96	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
4	CSNK1E	Casein Kinase 1 Epsilon	Protein Coding	22.83	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
5	PER1	Period Circadian Regulator 1	Protein Coding	17.37	GeneCards inferred via : Publications (show sections)
6	CABP4	Calcium Binding Protein 4	Protein Coding	16.42	DISEASES inferred ¹⁵
7	AANAT	Aralkylamine N-Acetyltransferase	Protein Coding	16.04	DISEASES inferred ¹⁵
8	HCRT	Hypocretin Neuropeptide Precursor	Protein Coding	15.32	DISEASES inferred ¹⁵
9	CLOCK	Clock Circadian Regulator	Protein Coding	15.17	DISEASES inferred ¹⁵
10	DAOA	D-Amino Acid Oxidase Activator	Protein Coding	15.04	DISEASES inferred ¹⁵

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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:

³⁸

#	Name	Kegg Source Accession
1	Circadian rhythm	hsa04710

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

(show all 13)

#	Super pathways	Score	Top Affiliating Genes
1	Circadian entrainment ³⁸ Show member pathways Cholinergic synapse ³⁸ Dopaminergic synapse ³⁸ Estrogen signaling pathway ³⁸ Glutamatergic synapse ³⁸ Relaxin receptors ⁶⁷ Relaxin signaling pathway ³⁸ Synaptic Neurotransmission Pathways: Glutamatergic Excitation ⁶⁶	12.63	CLOCK PER1 PER2 PER3
2	Neuroscience ⁴	12.23	CSNK1D CSNK1E HCRT
3	Circadian rythm related genes ¹	12.02	AANAT CLOCK CSNK1D CSNK1E PER1 PER2
4	BMAL1-CLOCK,NPAS2 activates circadian gene expression ⁶⁷ Show member pathways Circadian Clock ⁶⁷ NR1D1 (REV-ERBA) represses gene expression ⁶⁷ RORA activates gene expression ⁶⁷ YAP1- and WWTR1 (TAZ)-stimulated gene expression ⁶⁷	11.91	CLOCK CSNK1D CSNK1E PER1 PER2
5	p53 pathway ¹	11.28	CSNK1D CSNK1E
6	Diurnally Regulated Genes with Circadian Orthologs ¹	11.23	CLOCK PER1 PER2
7	Wnt Signaling Pathway Netpath ¹	11.22	CSNK1D CSNK1E
8	FoxO family signaling ¹	11.16	CSNK1D CSNK1E
9	Circadian rhythm ³⁸ Show member pathways Circadian Clock in Mammals ⁶⁵	11.07	CLOCK CSNK1D CSNK1E PER1 PER2 PER3
10	DARPP-32 Phosphorylation ⁶⁶	10.78	CSNK1D CSNK1E
11	Melatonin metabolism and effects ¹	10.67	CLOCK CSNK1D CSNK1E PER1 PER2 PER3
12	Circadian rhythm pathway ¹	10.64	CLOCK CSNK1E PER1
13	Metabolic States and Circadian Oscillators ⁶⁵ 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	9.61	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

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