FASPS1
MCID: ADV003
MIFTS: 33

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 57 74 13 72
Familial Advanced Sleep Phase Syndrome 1 12 29 6
Fasps1 57 12 74
Sleep Disorders, Circadian Rhythm 44
Advanced Sleep Phase Syndrome 1 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
advanced sleep phase syndrome, familial, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110011
MeSH 44 D020178
UMLS 72 C3807327

Summaries for Advanced Sleep Phase Syndrome, Familial, 1

UniProtKB/Swiss-Prot : 74 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, 2 and advanced sleep phase syndrome, familial, 3. An important gene associated with Advanced Sleep Phase Syndrome, Familial, 1 is PER2 (Period Circadian Regulator 2). The drugs Promethazine and Suvorexant have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and testes, 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 : 57 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

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

Diseases related to Advanced Sleep Phase Syndrome, Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 advanced sleep phase syndrome, familial, 2 11.3
2 advanced sleep phase syndrome, familial, 3 11.3
3 sleep disorder 10.7
4 cone-rod synaptic disorder, congenital nonprogressive 10.3
5 delayed sleep phase disorder 10.2
6 advanced sleep phase syndrome 10.2
7 lipid metabolism disorder 10.0
8 hypersomnia 10.0

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:

32
# Description HPO Frequency HPO Source Accession
1 sleep-wake cycle disturbance 32 hallmark (90%) HP:0006979
2 depressivity 32 HP:0000716
3 early chronotype 32 HP:0031873

Symptoms via clinical synopsis from OMIM:

57
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

DrugBank drugs 16 :

# Drug Name Indication DrugBank ID
1 Armodafinil Investigated for use/treatment in sleep disorders, obstructive sleep apnea, schizophrenia and schizoaffective disorders, depression, and bipolar disorders. DB06413
2 Modafinil To improve wakefulness in patients with excessive daytime sleepiness (EDS) associated with narcolepsy. DB00745

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

(show top 50) (show all 75)
# 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 Antioxidants Phase 4
5 Protective Agents Phase 4
6 Central Nervous System Depressants Phase 4
7 Neurotransmitter Agents Phase 4
8 Orexin Receptor Antagonists Phase 4
9 Hypnotics and Sedatives Phase 4
10
Modafinil Approved, Investigational Phase 3 68693-11-8 4236
11 Cytochrome P-450 CYP3A Inducers Phase 3
12 Central Nervous System Stimulants Phase 3
13 Cytochrome P-450 Enzyme Inducers Phase 3
14 Wakefulness-Promoting Agents Phase 3
15
Melatonin Approved, Nutraceutical, Vet_approved Phase 1 73-31-4 896
16
Methylcobalamin Approved, Experimental, Investigational 13422-55-4
17
Hydroxocobalamin Approved 13422-51-0 11953898 15589840
18
Dopamine Approved 51-61-6, 62-31-7 681
19
Risperidone Approved, Investigational 106266-06-2 5073
20
Eszopiclone Approved, Investigational 138729-47-2 969472
21
Hydrocortisone acetate Approved, Vet_approved 50-03-3
22
Hydrocortisone Approved, Vet_approved 50-23-7 5754
23
Caffeine Approved 58-08-2 2519
24
Zolpidem Approved 82626-48-0 5732
25
Methamphetamine Approved, Illicit 537-46-2 10836
26
Metronidazole Approved 443-48-1 4173
27
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
28
Sevoflurane Approved, Vet_approved 28523-86-6 5206
29
Ropivacaine Approved 84057-95-4 71273 175805
30
Glucagon Approved 16941-32-5
31
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
32
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
33
Cobalamin Experimental 13408-78-1 6857388
34 Hematinics
35 Vitamins
36 Vitamin B9
37 Folate
38 Vitamin B 12
39 Nutrients
40 Vitamin B Complex
41 Micronutrients
42 Trace Elements
43 Vitamin B12
44 Tranquilizing Agents
45 Dopamine Agents
46 Serotonin Antagonists
47 Serotonin Agents
48 Antipsychotic Agents
49 Psychotropic Drugs
50 Dopamine Antagonists

Interventional clinical trials:

(show top 50) (show all 80)
# 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 Assessments in Stress and Quality of Sleep/Life in Night-shift Nurses and Doctors Completed NCT02541747 Phase 4
3 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.
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 Examination of the Effectiveness of Suvorexant in Improving Daytime Sleep in Shift Workers Recruiting NCT02491788 Phase 4 Suvorexant;Placebo
6 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
7 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
8 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
9 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
10 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)
11 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
12 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
13 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
14 Diabetic Retinopathy: Effects of Melatonin Treatment on Visual Functions and Circadian Rhythm Recruiting NCT03478306 Phase 3 Melatonin 4 mg Tablet
15 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 Recruiting NCT01218789 Phase 3 tasimelteon
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 Sleep Helsinki! CIRCADIAN SLEEP REGULATION IN ADOLESCENCE Unknown status NCT02964598
29 Circadian Integration of Photic and Non-photic Stimuli Unknown status NCT00387179 Melatonin;Methylxanthine
30 Early Development of Sleep-wake Cycles in Premature Infants and Its Impact on Neurodevelopmental Outcome Unknown status NCT01774318
31 Implementing and Sustaining a Transdiagnostic Sleep and Circadian Treatment Completed NCT03556878
32 Magnetoencephalographic Imaging of Sleepiness: The Effect of Armodafinil in Shift Work Sleep Disorder Completed NCT00688142
33 Meal Distribution Across the Day in Female Nurses Working Shifts and Their Relationship With Nutritional Status Completed NCT02522195
34 Effect of Vitamin B12 on the Human Circadian Pacemaker Completed NCT00120484 Vitamin B12
35 Actigraphic Analysis of Treatment Response in a Six Year Old Girl With Kabuki Syndrome Completed NCT00723580 risperidone
36 Effects of Daytime Eszopiclone Administration in Shift Workers on Overnight Wakefulness During a Subsequent Simulated Nightshift Completed NCT00900159 eszopiclone;matching placebo
37 Cross Sectional Study of Sleep-wake and Melatonin Patterns in Patients Treated for Craniopharyngiomas Compared to Matched Controls Completed NCT01881854
38 Impact of Shift Work on Risk of Cardiovascular Disease and Diabetes: A Cross-sectional Study Completed NCT02901860
39 Improving the Sleep and Circadian Rhythms of Mechanically Ventilated Patients Completed NCT01284140
40 Wake-sleep Cycle and Melatonin Secretion Dynamics Associated With 12 Hours Shift Work in French Nurses Completed NCT03153917
41 Determination of Protocol of Nocturnal Food Intake of Shift Workers: a Crossover Randomized and Controlled Study. Completed NCT03456219
42 Fire Fighter Fatigue Management Program: Operation Healthy Sleep Completed NCT01988129
43 Sleep Disruption and ICU Delirium: Delirium Assessment and Monitoring Combined With the Evaluation of Sleep Using the Sedline Brain Function Monitor. Completed NCT01280097
44 Does Zolpidem CR Treatment Change Clinical Outcomes in Elderly Hospitalized Patients With Dementia- A Pilot Study Completed NCT00814502 Zolpidem CR;Placebo
45 The Impact of Ergonomic Circadian Light on Hospitalized Stroke Patients in a Rehabilitation Unit Completed NCT02186392
46 Testing the Effectiveness of a Comprehensive Fatigue Management for the Police Completed NCT00246051
47 Does CBT Improve the Effect of Light Therapy in Delayed Sleep Phase Syndrome Compared to Only Light Therapy - Short and Long Term Follow up Completed NCT01419938
48 Sustainable Methods, Algorithms, and Research Tools for Delivering Optimal Care Study (SMART DOCS) Completed NCT02037438
49 Sleep Disorders Management, Health and Safety in Police Completed NCT00207285
50 Fire Fighter Fatigue Management Program: Operation Fight Fatigue Completed NCT01672502

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

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Armodafinil
Modafinil

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:

41
Brain, Liver, Testes, Breast

Publications for Advanced Sleep Phase Syndrome, Familial, 1

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

(show all 12)
# Title Authors PMID Year
1
An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. 8 71
11232563 2001
2
Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans. 8
10470086 1999
3
Optimal Melatonin Dose in Older Adults: A Clinical Review of the Literature. 38
31383052 2019
4
Sleep Disorders: Circadian Rhythm Sleep-Wake Disorders. 38
28845960 2017
5
[Definitions and clinical classifications of sleep disorders]. 38
22844797 2012
6
Sleep and epilepsy: common bedfellows. 38
21399510 2011
7
The roles of melatonin and light in the pathophysiology and treatment of circadian rhythm sleep disorders. 38
18628753 2008
8
Consistency and accuracy of the Medical Subject Headings thesaurus for electronic indexing and retrieval of chronobiologic references. 38
18075808 2007
9
Sleep and its disorders in older adults. 38
17118283 2006
10
Sleep disorders in psychiatry. 38
16979426 2006
11
Behavioral sleep medicine: a historical perspective. 38
15600134 2003
12
Appropriate use of benzodiazepines in insomnia: clinical update. 38
2071565 1991

Variations for Advanced Sleep Phase Syndrome, Familial, 1

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PER2 NM_022817.3(PER2): c.1984A> G (p.Ser662Gly) single nucleotide variant Pathogenic rs121908635 2:239165644-239165644 2:238257003-238257003
2 PER2 NM_022817.3(PER2): c.595del (p.Leu199fs) deletion Pathogenic 2:239180130-239180130 2:238271491-238271491
3 PER2 NM_022817.3(PER2): c.2963C> T (p.Pro988Leu) single nucleotide variant Uncertain significance 2:239161701-239161701 2:238253060-238253060

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

74
# 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

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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