FASPS1
MCID: ADV003
MIFTS: 41

Advanced Sleep Phase Syndrome, Familial, 1 (FASPS1)

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

Aliases & Classifications for Advanced Sleep Phase Syndrome, Familial, 1

MalaCards integrated aliases for Advanced Sleep Phase Syndrome, Familial, 1:

Name: Advanced Sleep Phase Syndrome, Familial, 1 56 73 13 71
Familial Advanced Sleep Phase Syndrome 1 12 29 6
Fasps1 56 12 73
Advanced Sleep Phase Syndrome 1 12 15
Sleep Phase Syndrome, Advanced, Familial, Type 1 39
Sleep Disorders, Circadian Rhythm 43

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood, but most noticeable in mid-teens and early adulthood


HPO:

31
advanced sleep phase syndrome, familial, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110011
OMIM 56 604348
OMIM Phenotypic Series 56 PS604348
MeSH 43 D020178
UMLS 71 C3807327

Summaries for Advanced Sleep Phase Syndrome, Familial, 1

UniProtKB/Swiss-Prot : 73 Advanced sleep phase syndrome, familial, 1: A disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms.

MalaCards based summary : Advanced Sleep Phase Syndrome, Familial, 1, also known as familial advanced sleep phase syndrome 1, is related to advanced sleep phase syndrome, familial, 3 and sleep disorder. An important gene associated with Advanced Sleep Phase Syndrome, Familial, 1 is PER2 (Period Circadian Regulator 2), and among its related pathways/superpathways are BMAL1-CLOCK,NPAS2 activates circadian gene expression and Circadian rythm related genes. The drugs Promethazine and Suvorexant have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and breast, and related phenotypes are sleep-wake cycle disturbance and depressivity

Disease Ontology : 12 An advanced sleep phase syndrome that has material basis in heterozygous mutation in the PER2 gene on chromosome 2q37.

OMIM : 56 Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by Jones et al., 1999). (604348)

Related Diseases for Advanced Sleep Phase Syndrome, Familial, 1

Graphical network of the top 20 diseases related to Advanced Sleep Phase Syndrome, Familial, 1:



Diseases related to Advanced Sleep Phase Syndrome, Familial, 1

Symptoms & Phenotypes for Advanced Sleep Phase Syndrome, Familial, 1

Human phenotypes related to Advanced Sleep Phase Syndrome, Familial, 1:

31
# Description HPO Frequency HPO Source Accession
1 sleep-wake cycle disturbance 31 hallmark (90%) HP:0006979
2 depressivity 31 HP:0000716
3 early chronotype 31 HP:0031873

Symptoms via clinical synopsis from OMIM:

56
Neurologic Behavioral Psychiatric Manifestations:
depression (in some patients)
early sleep onset (almost 4 hours advanced over controls)
early sleep offset (almost 4 hours advanced over controls)
short circadian rhythm cycle (tau)
'morning larks'

Metabolic Features:
melatonin rhythm phase-advanced by 3-4 hours
temperature rhythm phase-advanced by 3-4 hours

Clinical features from OMIM:

604348

Drugs & Therapeutics for Advanced Sleep Phase Syndrome, Familial, 1

Drugs for Advanced Sleep Phase Syndrome, Familial, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 55)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Promethazine Approved, Investigational Phase 4 60-87-7 4927
2
Suvorexant Approved, Investigational Phase 4 1030377-33-3
3
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
4 Hypnotics and Sedatives Phase 4
5 Antioxidants Phase 4
6 Protective Agents Phase 4
7
Modafinil Approved, Investigational Phase 3 68693-11-8 4236
8
Melatonin Approved, Nutraceutical, Vet_approved Phase 1 73-31-4 896
9
Methylcobalamin Approved, Investigational 13422-55-4
10
Hydroxocobalamin Approved 13422-51-0 15589840 11953898
11
Risperidone Approved, Investigational 106266-06-2 5073
12
Eszopiclone Approved, Investigational 138729-47-2 969472
13
Hydrocortisone Approved, Vet_approved 50-23-7 5754
14
Hydrocortisone acetate Approved, Vet_approved 50-03-3
15
Caffeine Approved 58-08-2 2519
16
Zolpidem Approved 82626-48-0 5732
17
Dopamine Approved 51-61-6, 62-31-7 681
18
Methamphetamine Approved, Illicit 537-46-2 10836
19
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
20
Ropivacaine Approved 84057-95-4 71273 175805
21
Sevoflurane Approved, Vet_approved 28523-86-6 5206
22
Metronidazole Approved 443-48-1 4173
23
Glucagon Approved 16941-32-5
24
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
25
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
26
Cobalamin Experimental 13408-78-1 6857388
27 Trace Elements
28 Micronutrients
29 Vitamins
30 Vitamin B Complex
31 Vitamin B 12
32 Hematinics
33 Folate
34 Vitamin B12
35 Nutrients
36 Vitamin B9
37 Dopamine Antagonists
38 Psychotropic Drugs
39 Antipsychotic Agents
40 Hydrocortisone 17-butyrate 21-propionate
41 Hydrocortisone hemisuccinate
42 Anti-Inflammatory Agents
43 Liver Extracts
44 GABA Agonists
45 Central Nervous System Stimulants
46 Neurotransmitter Agents
47 Dopamine Agents
48 Anesthetics
49 Insulin, Globin Zinc
50 insulin

Interventional clinical trials:

(show top 50) (show all 84)
# Name Status NCT ID Phase Drugs
1 Are Patients Suffering From DSPS Show Compromising in Everyday Functions and Abilities (Attention and Concentration, Mood and Fatigue) Before Handling the Disorder? And Whether the Treatment Fixes the Disorder? Unknown status NCT02962037 Phase 4
2 Examination of the Effectiveness of Suvorexant in Improving Daytime Sleep in Shift Workers Completed NCT02491788 Phase 4 Suvorexant;Placebo
3 Assessments in Stress and Quality of Sleep/Life in Night-shift Nurses and Doctors Completed NCT02541747 Phase 4
4 Delayed Sleep Phase Syndrome in Adolescents and Young Adults. Sleep, Personality, Developmental History, Circadian Rhythm, Daytime Functioning and Treatment Completed NCT00834886 Phase 4
5 A Single Dose, Open-Label, Randomized Two-Period Crossover Study in Healthy Young Subjects to Assess the Absolute Bioavailability of Tasimelteon (HETLIOZ™) Completed NCT02130999 Phase 4 tasimelteon 20 mg capsule;tasimelteon 2 mg I.V.
6 Open-Label Safety Study of a 1-Year 20 mg Dose Regimen of Tasimelteon for Treatment of Non-24-Hour-Sleep-Wake Disorder (N24HSWD) in Blind Individuals With No Light Perception Unknown status NCT01218789 Phase 3 tasimelteon
7 A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study of the Efficacy and Multiple-Dose Plasma Concentration-Time Profiles of Armodafinil (150, 200, and 250 mg) and PROVIGIL® (200 mg) in Patients With Chronic Shift Work Sleep Disorder Completed NCT00236080 Phase 3 PROVIGIL 200 mg;Armodafinil 250 mg;Armodafinil 200 mg;Armodafinil 150 mg;Placebo
8 A 12-Month, Open-Label, Flexible-Dosage (100 to 250 mg/Day) Extension Study of the Safety and Efficacy of Armodafinil (CEP-10953) in the Treatment of Patients With Excessive Sleepiness Associated With Narcolepsy, Obstructive Sleep Apnea/Hypopnea Syndrome, or Chronic Shift Work Sleep Disorder (With an Open-Ended Extension Period) Completed NCT00228553 Phase 3 Armodafinil 100 to 250 mg/day
9 Multicenter, Randomized, Double-blind, Placebo Controlled Trial of 2 mg Melatonin for Circadian Phase Adjustment and Improvement of Metabolic Control in Night Shift Workers Completed NCT02108353 Phase 3 Melatonin 2mg;Placebo
10 A 12 Week, Randomized, Double Blind, Placebo Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of CEP 10953 (150 mg) as Treatment for Adults With Excessive Sleepiness Associated With Chronic Shift Work Sleep Disorder Completed NCT00080288 Phase 3 Armodafinil 150 mg/day;Placebo
11 A 12-Month, Open-Label, Flexible-Dosage (100 to 250 mg/Day) Study of the Safety and Efficacy of CEP-10953 in the Treatment of Patients With Excessive Sleepiness Associated With Narcolepsy, Obstructive Sleep Apnea/Hypopnea Syndrome, or Chronic Shift Work Sleep Disorder (With an Open-Ended Extension Period) Completed NCT00078312 Phase 3 CEP-10953 (Armodafinil)
12 A Multicenter, Randomized, Double-Mask, Placebo-Controlled, Parallel Study to Investigate the Efficacy and Safety of 20 mg Tasimelteon Versus Placebo in Totally Blind Subjects With N24HSWD Followed by an OLE Phase Completed NCT01163032 Phase 3 tasimelteon;Placebo
13 A Randomized Withdrawal Study to Demonstrate the Maintenance of Effect of 20 mg Tasimelteon in the Treatment of N24HSWD Completed NCT01430754 Phase 3 tasimelteon;Placebo
14 An Extension Open-Label Safety Study of a 24-month 20 mg Dose Regimen of Tasimelteon for the Treatment of Non-24-Hour Sleep-Wake Disorder (N24HSWD) in Blind Individuals With no Light Perception Who Have Enrolled in Other Tasimelteon Clinical Trials Completed NCT01429116 Phase 3 tasimelteon
15 Diabetic Retinopathy: Effects of Melatonin Treatment on Visual Functions and Circadian Rhythm Recruiting NCT03478306 Phase 3 Melatonin 4 mg Tablet
16 The Clinical Utility of DLMO in the Treatment of Delayed Sleep-Wake Phase Disorder: A Randomized Trial Recruiting NCT03715465 Phase 3 Melatonin 0.5 MG
17 The Role of Palliative Care Interventions to Reduce Circadian Rhythm Disorders in Persons With Dementia: The Healthy Patterns Study Recruiting NCT03682185 Phase 3
18 An Evaluation of the Effects of Pharmaton® Caplets Film-coated Tablets on Mental Performance and Physical Fatigue in Nurses Working Night Shifts: a Double-blind, Placebo Controlled Pilot Trial Completed NCT02199847 Phase 2 Pharmaton® Caplets;Placebo
19 A Randomized, Double-blind, Placebo-controlled, Multi-center Study of the Effects of VEC-162 on Circadian Rhythm in Healthy Subjects Completed NCT00490945 Phase 2 VEC-162
20 Melatonin as a Circadian Clock Regulator, Neuromodulator and Myelo-protector in Adjuvant Breast Cancer Chemotherapy: a Randomized, Double-blind, Placebo-controlled Trial. Completed NCT03205033 Phase 2 Melatonin 20 MG Oral Capsule;Placebo oral capsule
21 A Randomized, Double-Blind, Placebo-Controlled, Parallel, Proof of Concept Study to Evaluate the Effectiveness of Ramelteon to Advance the Timing of Sleep in Individuals With Delayed Sleep Phase Syndrome (DSPS) Completed NCT00593736 Phase 2 Ramelteon;Ramelteon;Ramelteon;Placebo
22 A Double-Blind, Placebo-Controlled Study of Circadin™ for Non-24 Hour Sleep-Wake Disorder in Totally Blind Subjects Completed NCT00972075 Phase 2 melatonin (Circadin);placebo
23 Open-label Study to Investigate the Pharmacokinetics and Safety of Tasimelteon in Children and Adolescents Unknown status NCT02776215 Phase 1 tasimelteon
24 Synchronization and Desynchronization Between Circadian Rhythms in Patients With Delayed Sleep Phase Syndrome (DSPS) Unknown status NCT00282061 Phase 1 Melatonin
25 Sleep Enhancement Training Study for Experienced Shiftworkers Completed NCT00786357 Phase 1
26 Sleep Enhancement Training Study for Novice Shiftworkers Completed NCT00786266 Phase 1
27 A Phase One Treatment Trial of the Circadian Sleep Disturbance in Smith-Magenis Syndrome (SMS) Completed NCT00506259 Phase 1 dTR Melatonin (NIH CC PDS);Melatonin CR
28 The Impact of Night Nursing Activity on the Quality of Hospitalized Patients' Sleep Unknown status NCT03370354
29 The Impact of Night Float on Anesthesiology Resident Sleep Patterns Unknown status NCT03325244
30 Sleep Helsinki! CIRCADIAN SLEEP REGULATION IN ADOLESCENCE Unknown status NCT02964598
31 Circadian Integration of Photic and Non-photic Stimuli Unknown status NCT00387179 Melatonin;Methylxanthine
32 ROOM-LIGHT: Dynamic LED-light as Treatment for Depressed Patients in Inpatient Wards: A Feasibility Trial Unknown status NCT03363529
33 Early Development of Sleep-wake Cycles in Premature Infants and Its Impact on Neurodevelopmental Outcome Unknown status NCT01774318
34 Teen School-Night Sleep Extension: An Intervention Targeting the Circadian System Completed NCT04087603
35 Implementing and Sustaining a Transdiagnostic Sleep and Circadian Treatment Completed NCT03556878
36 Meal Distribution Across the Day in Female Nurses Working Shifts and Their Relationship With Nutritional Status Completed NCT02522195
37 Magnetoencephalographic Imaging of Sleepiness: The Effect of Armodafinil in Shift Work Sleep Disorder Completed NCT00688142
38 Effect of Vitamin B12 on the Human Circadian Pacemaker Completed NCT00120484 Vitamin B12
39 Actigraphic Analysis of Treatment Response in a Six Year Old Girl With Kabuki Syndrome Completed NCT00723580 risperidone
40 Effects of Daytime Eszopiclone Administration in Shift Workers on Overnight Wakefulness During a Subsequent Simulated Nightshift Completed NCT00900159 eszopiclone;matching placebo
41 Cross Sectional Study of Sleep-wake and Melatonin Patterns in Patients Treated for Craniopharyngiomas Compared to Matched Controls Completed NCT01881854
42 Determination of Protocol of Nocturnal Food Intake of Shift Workers: a Crossover Randomized and Controlled Study. Completed NCT03456219
43 Wake-sleep Cycle and Melatonin Secretion Dynamics Associated With 12 Hours Shift Work in French Nurses Completed NCT03153917
44 Improving the Sleep and Circadian Rhythms of Mechanically Ventilated Patients Completed NCT01284140
45 Impact of Shift Work on Risk of Cardiovascular Disease and Diabetes: A Cross-sectional Study Completed NCT02901860
46 The Effects of Bright Light on Adaptation to Night Work Among Nurses Completed NCT02978053
47 Fire Fighter Fatigue Management Program: Operation Healthy Sleep Completed NCT01988129
48 Comparison of Morning Operation and Evening Operation on Postoperative Sleep Quality and Pain Under General Anesthesia: A Randomized Controlled Trial Completed NCT04094376
49 Does Zolpidem CR Treatment Change Clinical Outcomes in Elderly Hospitalized Patients With Dementia- A Pilot Study Completed NCT00814502 Zolpidem CR;Placebo
50 Sleep Disruption and ICU Delirium: Delirium Assessment and Monitoring Combined With the Evaluation of Sleep Using the Sedline Brain Function Monitor. Completed NCT01280097

Search NIH Clinical Center for Advanced Sleep Phase Syndrome, Familial, 1

Cochrane evidence based reviews: sleep disorders, circadian rhythm

Genetic Tests for Advanced Sleep Phase Syndrome, Familial, 1

Genetic tests related to Advanced Sleep Phase Syndrome, Familial, 1:

# Genetic test Affiliating Genes
1 Familial Advanced Sleep Phase Syndrome 1 29 PER2

Anatomical Context for Advanced Sleep Phase Syndrome, Familial, 1

MalaCards organs/tissues related to Advanced Sleep Phase Syndrome, Familial, 1:

40
Brain, Liver, Breast, Testes

Publications for Advanced Sleep Phase Syndrome, Familial, 1

Articles related to Advanced Sleep Phase Syndrome, Familial, 1:

# Title Authors PMID Year
1
An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. 6 56
11232563 2001
2
Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans. 56
10470086 1999
3
The protein kinase FaSnRK1α regulates sucrose accumulation in strawberry fruits. 61
32276220 2020

Variations for Advanced Sleep Phase Syndrome, Familial, 1

ClinVar genetic disease variations for Advanced Sleep Phase Syndrome, Familial, 1:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PER2 NM_022817.3(PER2):c.595del (p.Leu199fs)deletion Pathogenic 634825 rs1559332542 2:239180130-239180130 2:238271489-238271489
2 PER2 NM_022817.3(PER2):c.1984A>G (p.Ser662Gly)SNV Pathogenic 6345 rs121908635 2:239165644-239165644 2:238257003-238257003
3 PER2 NM_022817.3(PER2):c.2963C>T (p.Pro988Leu)SNV Uncertain significance 634824 rs1559323041 2:239161701-239161701 2:238253060-238253060

UniProtKB/Swiss-Prot genetic disease variations for Advanced Sleep Phase Syndrome, Familial, 1:

73
# Symbol AA change Variation ID SNP ID
1 PER2 p.Ser662Gly VAR_029080 rs121908635

Expression for Advanced Sleep Phase Syndrome, Familial, 1

Search GEO for disease gene expression data for Advanced Sleep Phase Syndrome, Familial, 1.

Pathways for Advanced Sleep Phase Syndrome, Familial, 1

GO Terms for Advanced Sleep Phase Syndrome, Familial, 1

Biological processes related to Advanced Sleep Phase Syndrome, Familial, 1 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.93 PER3 PER2 MLX CRY2 CRY1 BHLHE41
2 negative regulation of transcription, DNA-templated GO:0045892 9.91 PER2 MLX CRY2 CRY1 BHLHE41
3 regulation of circadian rhythm GO:0042752 9.67 PER2 CRY2 CRY1
4 rhythmic process GO:0048511 9.63 PER3 PER2 NPAS2 CRY2 CRY1 BHLHE41
5 entrainment of circadian clock by photoperiod GO:0043153 9.62 PER3 PER2 CRY2 CRY1
6 response to activity GO:0014823 9.58 CRY2 CRY1
7 gluconeogenesis GO:0006094 9.57 PER2 CRY1
8 regulation of neurogenesis GO:0050767 9.56 PER2 BHLHE41
9 response to light stimulus GO:0009416 9.56 PER3 PER2 CRY2 CRY1
10 lipid storage GO:0019915 9.55 CRY2 CRY1
11 protein-chromophore linkage GO:0018298 9.54 CRY2 CRY1
12 negative regulation of circadian rhythm GO:0042754 9.54 PER2 CRY2 CRY1
13 response to glucagon GO:0033762 9.52 CRY1 CCNA2
14 negative regulation of glucocorticoid receptor signaling pathway GO:2000323 9.48 CRY2 CRY1
15 negative regulation of glucocorticoid secretion GO:2000850 9.43 CRY2 CRY1
16 circadian rhythm GO:0007623 9.43 PER3 PER2 NPAS2 CRY2 CRY1 BHLHE41
17 blue light signaling pathway GO:0009785 9.4 CRY2 CRY1
18 circadian regulation of gene expression GO:0032922 9.1 PER3 PER2 NPAS2 CRY2 CRY1 BHLHE41

Molecular functions related to Advanced Sleep Phase Syndrome, Familial, 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.73 PER3 PER2 MLX CRY1
2 lyase activity GO:0016829 9.63 CRY2 CRY1 ADCY10
3 kinase binding GO:0019900 9.58 PER3 CRY2 CRY1
4 protein dimerization activity GO:0046983 9.56 TCF15 NPAS2 MLX BHLHE41
5 E-box binding GO:0070888 9.51 CRY1 BHLHE41
6 phosphatase binding GO:0019902 9.49 CRY2 CRY1
7 nuclear hormone receptor binding GO:0035257 9.48 CRY2 CRY1
8 photoreceptor activity GO:0009881 9.37 CRY2 CRY1
9 transcription corepressor binding GO:0001222 9.32 PER3 PER2
10 blue light photoreceptor activity GO:0009882 9.16 CRY2 CRY1
11 DNA (6-4) photolyase activity GO:0003914 8.96 CRY2 CRY1
12 deoxyribodipyrimidine photo-lyase activity GO:0003904 8.62 CRY2 CRY1

Sources for Advanced Sleep Phase Syndrome, Familial, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....