DSPD
MCID: DLY008
MIFTS: 44

Delayed Sleep Phase Disorder (DSPD)

Categories: Mental diseases

Aliases & Classifications for Delayed Sleep Phase Disorder

MalaCards integrated aliases for Delayed Sleep Phase Disorder:

Name: Delayed Sleep Phase Disorder 57
Delayed Sleep Phase Syndrome 57 12 73 72 36 54 15 70
Delayed Sleep Phase Syndrome, Susceptibility to 57 13 6
Dspd 57 12
Sleep Phase Syndrome, Delayed, Susceptibility to 39
Delayed Sleep Phase Disorder, Susceptibility to 57
Sleep Phase, Delayed, Disorder 39
Dsps 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable manifestations of disrupted sleep


HPO:

31
delayed sleep phase disorder:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111141
OMIM® 57 614163
KEGG 36 H00689
MeSH 44 D020178
SNOMED-CT via HPO 68 193462001 263681008
UMLS 70 C0393770

Summaries for Delayed Sleep Phase Disorder

OMIM® : 57 Delayed sleep phase syndrome is a circadian rhythm sleep disorder characterized by sleep-onset insomnia and difficulty in awakening at the desired time. Patients with DSPD have chronic difficulty in adjusting their sleep-onset and wake-up times to occupational, school, and social activities. Although psychosocial and environmental factors sometimes induce this kind of disorder, most patients with DSPD appear to have an abnormal circadian pacemaker and/or an abnormal entrainment system (summary by Hohjoh et al., 2003). (614163) (Updated 05-Apr-2021)

MalaCards based summary : Delayed Sleep Phase Disorder, also known as delayed sleep phase syndrome, is related to bipolar disorder and major depressive disorder. An important gene associated with Delayed Sleep Phase Disorder is DSPS (Delayed Sleep Phase Syndrome, Susceptibility To), and among its related pathways/superpathways are Tryptophan metabolism and Circadian rhythm. The drugs Melatonin and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and temporal lobe, and related phenotypes are insomnia and Reduced mammosphere formation

Disease Ontology : 12 A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time.

KEGG : 36 Delayed sleep phase syndrome (DSPS) is characterized by a 3 to 6-hour delayed sleep schedule relative to the desired. The single nucleotide polymorphism (Ala129Thr) in Arylalkylamine N-acetyltransferase (AANAT), a rate-limiting enzyme in melatonin synthesis, has been identified in patients with delayed sleep phase disorder.

UniProtKB/Swiss-Prot : 72 Delayed sleep phase syndrome: A circadian rhythm sleep disorder characterized by sleep-onset insomnia and difficulty in awakening at the desired time. Patients with DSPS have chronic difficulty in adjusting their sleep-onset and wake-up times to occupational, school, and social activities.

Wikipedia : 73 Delayed sleep phase disorder (DSPD), more often known as delayed sleep phase syndrome and also as... more...

Related Diseases for Delayed Sleep Phase Disorder

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 bipolar disorder 28.7 PER3 PER2 NR1D1 NPAS2 CSNK1E CRY2
2 major depressive disorder 28.3 PER3 PER2 OPN4 NR1D1 NPAS2 HCRT
3 sleep disorder 27.7 PER3 PER2 OPN4 NR1D1 NPAS2 HCRT
4 advanced sleep phase syndrome 26.2 PER3 PER2 OPN4 NR1D1 NPAS2 HCRT
5 personality disorder 10.3
6 attention deficit-hyperactivity disorder 10.2
7 hypochondriasis 10.1
8 headache 10.1
9 bile duct cystadenoma 10.1 PER3 CLOCK ARNTL
10 multiple sclerosis 10.0
11 obsessive-compulsive disorder 10.0
12 cone-rod synaptic disorder, congenital nonprogressive 10.0
13 cyclothymic disorder 10.0
14 head injury 10.0
15 traumatic brain injury 10.0
16 major affective disorder 1 10.0
17 migraine with or without aura 1 10.0
18 yemenite deaf-blind hypopigmentation syndrome 10.0
19 alveolar soft part sarcoma 10.0
20 major affective disorder 8 10.0
21 major affective disorder 9 10.0
22 allergic disease 10.0
23 avoidant personality disorder 10.0
24 neurotic disorder 10.0
25 liver cirrhosis 10.0
26 47,xyy 10.0
27 cluster headache 10.0
28 dysthymic disorder 9.9 HCRT CRY2
29 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.9
30 mental depression 9.8 OPN4 NPAS2 CLOCK ARNTL
31 hematuria, benign familial 9.8 OPN4 HCRT ARNTL
32 restless legs syndrome 9.8 NPAS2 HCRT CLOCK
33 rem sleep behavior disorder 9.7 PER2 NR1D1 HCRT ARNTL
34 pineocytoma 9.6 ASMT AANAT
35 gum cancer 9.6 PER3 PER2 CSNK1E CRY2 CRY1 ARNTL
36 advanced sleep phase syndrome, familial, 1 9.6 PER3 PER2 NPAS2 CRY2 CRY1 CLOCK
37 amegakaryocytic thrombocytopenia, congenital 9.4 ASMT AANAT
38 disease of mental health 7.7 PER3 PER2 OPN4 NR1D1 NPAS2 HCRT

Graphical network of the top 20 diseases related to Delayed Sleep Phase Disorder:



Diseases related to Delayed Sleep Phase Disorder

Symptoms & Phenotypes for Delayed Sleep Phase Disorder

Human phenotypes related to Delayed Sleep Phase Disorder:

31
# Description HPO Frequency HPO Source Accession
1 insomnia 31 HP:0100785

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
delayed onset of sleep
sleep phase delay
fragmented sleep

Metabolic Features:
abnormal circadian rhythm
abnormal core temperature oscillation patterns

Clinical features from OMIM®:

614163 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Delayed Sleep Phase Disorder according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.1 ASMT CLOCK CSNK1E NPAS2 NR1D1 PER3

MGI Mouse Phenotypes related to Delayed Sleep Phase Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.77 ARNTL CLOCK CRY1 CRY2 CSNK1D CSNK1E
2 nervous system MP:0003631 9.44 AANAT ARNTL CLOCK CRY1 CRY2 CSNK1E

Drugs & Therapeutics for Delayed Sleep Phase Disorder

Drugs for Delayed Sleep Phase Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
2 Protective Agents Phase 4
3 Antioxidants Phase 4
4
tannic acid Approved 1401-55-4
5
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337

Interventional clinical trials:

(show all 11)
# 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 Treating Sleep Disruption in Teens With Millisecond Light Exposure During Sleep Completed NCT01406691 Phase 4
3 Delayed Sleep Phase Syndrome in Adolescents and Young Adults. Sleep, Personality, Developmental History, Circadian Rhythm, Daytime Functioning and Treatment Completed NCT00834886 Phase 4
4 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
5 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
6 Synchronization and Desynchronization Between Circadian Rhythms in Patients With Delayed Sleep Phase Syndrome (DSPS) Unknown status NCT00282061 Phase 1 Melatonin
7 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
8 Efficacy of Melatonin Treatment in a Phase Advance Model of Transient Insomnia Completed NCT00950885
9 Circadian Rhythms and Sleep in Familial Delayed Sleep Phase Syndrome (DSPS) and Advanced Sleep Phase Syndrome (ASPS) Recruiting NCT00246454
10 Sensitization of Human Circadian Responses to Light Active, not recruiting NCT01327040
11 Center for Adolescent Reward, Rhythms and Sleep Project 2 Not yet recruiting NCT04792697

Search NIH Clinical Center for Delayed Sleep Phase Disorder

Genetic Tests for Delayed Sleep Phase Disorder

Anatomical Context for Delayed Sleep Phase Disorder

MalaCards organs/tissues related to Delayed Sleep Phase Disorder:

40
Brain, Eye, Temporal Lobe

Publications for Delayed Sleep Phase Disorder

Articles related to Delayed Sleep Phase Disorder:

(show top 50) (show all 340)
# Title Authors PMID Year
1
Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase Disorder. 61 57 6
28388406 2017
2
Significant association of the arylalkylamine N-acetyltransferase ( AA-NAT) gene with delayed sleep phase syndrome. 61 57
12736803 2003
3
Melatonin rhythms in delayed sleep phase syndrome. 57 61
10036995 1999
4
[Functional polymorphisms in clock genes and circadian rhythm sleep disorders]. 61 54
17633519 2007
5
Genetics of the sleep-wake cycle and its disorders. 54 61
16979429 2006
6
A length polymorphism in the circadian clock gene Per3 is linked to delayed sleep phase syndrome and extreme diurnal preference. 61 54
12841365 2003
7
Mutation screening of the human Clock gene in circadian rhythm sleep disorders. 61 54
11927136 2002
8
Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the PER2 circadian rhythm gene. 61
33474825 2021
9
Effects of chronotherapy on circadian rhythm and ADHD symptoms in adults with attention-deficit/hyperactivity disorder and delayed sleep phase syndrome: a randomized clinical trial. 61
33121289 2021
10
From circadian clock mechanism to sleep disorders and jet lag: Insights from a computational approach. 61
33617843 2021
11
Just Let Me Sleep in: Identifying and Treating Delayed Sleep Phase Disorder in Adolescents. 61
33223060 2021
12
The importance of specialized sleep investigations in children with a suprasellar tumor. 61
32691357 2020
13
Relationships Among Delayed Sleep Phase Disorder, Emotional Dysregulation, and Affective Temperaments in Adults With Attention Deficit Hyperactivity Disorder and Cyclothymia. 61
32769692 2020
14
The human CRY1 tail controls circadian timing by regulating its association with CLOCK:BMAL1. 61
33106415 2020
15
Chronic Sleep Reduction in Childhood and Adolescence. 61
33357350 2020
16
Adult attention-deficit hyperactivity disorder and clinical correlates of delayed sleep phase disorder. 61
32554185 2020
17
Narcolepsy type 2: A rare, yet existing entity. 61
32989797 2020
18
"Circadian misalignment and the gut microbiome. A bidirectional relationship triggering inflammation and metabolic disorders"- a literature review. 61
32559717 2020
19
Validity, functional impairment and complications related to Internet gaming disorder in the DSM-5 and gaming disorder in the ICD-11. 61
31631668 2020
20
Brief digital sleep questionnaire powered by machine learning prediction models identifies common sleep disorders. 61
32502852 2020
21
Human CRY1 variants associate with attention deficit/hyperactivity disorder. 61
32538895 2020
22
Daily and Seasonal Variation in Light Exposure among the Old Order Amish. 61
32575882 2020
23
A Topological Cluster of Differentially Regulated Genes in Mice Lacking PER3. 61
32116548 2020
24
Excessive Daytime Sleepiness Measurements in Children With Attention Deficit Hyperactivity Disorder. 61
32174847 2020
25
A systematic review of case studies testing a melatonergic agonist/ 5HT2c antagonist for individuals with obsessive compulsive disorder. 61
31877423 2020
26
The impact of delayed sleep phase disorder on adolescents and their family. 61
31655320 2019
27
The use of melatonin in adult psychiatric disorders: Expert recommendations by the French institute of medical research on sleep (SFRMS). 61
31248601 2019
28
Delayed sleep-onset and biological age: late sleep-onset is associated with shorter telomere length. 61
31270544 2019
29
Circadian zeitgebers and treatment outcome in inpatient programs for obsessive compulsive disorder (OCD): a pilot study. 61
31198055 2019
30
Delayed Sleep Phase Syndrome. 61
31414911 2019
31
Delayed Sleep Phase Syndrome: A common sleep disorder in adolescents, with important quality of life repercussions. 61
30876698 2019
32
Sleep duration, quality of life and depression in adolescents: a school-based survey. 61
28643991 2019
33
Teens Who Can't Sleep: Insomnia or Circadian Rhythm Disorder? 61
30832901 2019
34
The role of the circadian system in the etiology and pathophysiology of ADHD: time to redefine ADHD? 61
30927228 2019
35
[Adolescent sleep disorders associated with school absenteeism: The child and adolescent psychiatrist is often crucial for effective management in sleep consultation]. 61
30122297 2019
36
Application of Machine Learning Methods to Ambulatory Circadian Monitoring (ACM) for Discriminating Sleep and Circadian Disorders. 61
31920488 2019
37
Clinical Sleep-Wake Disorders II: Focus on Insomnia and Circadian Rhythm Sleep Disorders. 61
28707143 2019
38
Delayed sleep phase syndrome and bipolar disorder: Pathogenesis and available common biomarkers. 61
29534856 2018
39
Light Therapy With Scheduled Rise Times in Young Adults With Delayed Sleep Phase Disorder: Therapeutic Outcomes and Possible Predictors. 61
27712107 2018
40
Effect of aripiprazole monotherapy in a patient presenting with delayed sleep phase syndrome associated with depressive symptoms. 61
29508475 2018
41
A case-control study of sleep disturbances in pediatric obsessive-compulsive disorder. 61
29529448 2018
42
Maternal circadian rhythms and the programming of adult health and disease. 61
29141950 2018
43
Low dose of aripiprazole advanced sleep rhythm and reduced nocturnal sleep time in the patients with delayed sleep phase syndrome: an open-labeled clinical observation. 61
29849459 2018
44
The pupillary light reflex distinguishes between circadian and non-circadian delayed sleep phase disorder (DSPD) phenotypes in young adults. 61
30261080 2018
45
Clinical and polysomnographic characteristics of excessive daytime sleepiness in children. 61
28822033 2017
46
Evidence for the efficacy of melatonin in the treatment of primary adult sleep disorders. 61
28648359 2017
47
Circadian phase, dynamics of subjective sleepiness and sensitivity to blue light in young adults complaining of a delayed sleep schedule. 61
28522084 2017
48
Changing Adolescent Sleep Patterns: Factors Affecting them and the Related Problems. 61
28462547 2017
49
A brief tool to differentiate factors contributing to insomnia complaints. 61
28240944 2017
50
Prevalence of Circadian Misalignment and Its Association With Depressive Symptoms in Delayed Sleep Phase Disorder. 61
28364473 2017

Variations for Delayed Sleep Phase Disorder

ClinVar genetic disease variations for Delayed Sleep Phase Disorder:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRY1 NM_004075.5(CRY1):c.1657+3A>C SNV risk factor 427574 rs184039278 GRCh37: 12:107386740-107386740
GRCh38: 12:106992962-106992962
2 AANAT NM_001088.3(AANAT):c.385G>A (p.Ala129Thr) SNV Uncertain significance 8630 rs28936679 GRCh37: 17:74465813-74465813
GRCh38: 17:76469731-76469731

Expression for Delayed Sleep Phase Disorder

Search GEO for disease gene expression data for Delayed Sleep Phase Disorder.

Pathways for Delayed Sleep Phase Disorder

Pathways related to Delayed Sleep Phase Disorder according to KEGG:

36
# Name Kegg Source Accession
1 Tryptophan metabolism hsa00380
2 Circadian rhythm hsa04710

GO Terms for Delayed Sleep Phase Disorder

Cellular components related to Delayed Sleep Phase Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.77 PER3 PER2 NR1D1 NPAS2 HCRT FBXL3
2 chromatoid body GO:0033391 9.16 CLOCK ARNTL
3 CLOCK-BMAL transcription complex GO:1990513 8.62 NPAS2 CLOCK

Biological processes related to Delayed Sleep Phase Disorder according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.04 PER3 PER2 NR1D1 CRY2 CRY1
2 negative regulation of transcription, DNA-templated GO:0045892 10.02 PER2 NR1D1 CRY2 CRY1 CLOCK ARNTL
3 positive regulation of transcription, DNA-templated GO:0045893 10.01 PER2 NR1D1 NPAS2 CLOCK ARNTL
4 circadian rhythm GO:0007623 9.86 PER2 NR1D1 NPAS2 CRY2 CRY1 CLOCK
5 regulation of cell cycle GO:0051726 9.81 PER2 FBXL3 ARNTL
6 regulation of circadian rhythm GO:0042752 9.81 PER2 OPN4 NR1D1 FBXL3 CSNK1E CSNK1D
7 positive regulation of canonical Wnt signaling pathway GO:0090263 9.8 CSNK1E CSNK1D ARNTL
8 G2/M transition of mitotic cell cycle GO:0000086 9.79 FBXL3 CSNK1E CSNK1D
9 response to insulin GO:0032868 9.78 CRY2 CRY1 AANAT
10 regulation of insulin secretion GO:0050796 9.77 PER2 CLOCK ARNTL
11 entrainment of circadian clock by photoperiod GO:0043153 9.77 PER3 PER2 FBXL3 CRY2 CRY1
12 response to light stimulus GO:0009416 9.65 CRY2 CRY1 AANAT
13 circadian regulation of gene expression GO:0032922 9.65 PER3 PER2 NR1D1 NPAS2 CSNK1E CSNK1D
14 lipid storage GO:0019915 9.63 CRY2 CRY1
15 protein-chromophore linkage GO:0018298 9.63 OPN4 CRY2 CRY1
16 glycogen biosynthetic process GO:0005978 9.62 PER2 NR1D1
17 negative regulation of glucocorticoid receptor signaling pathway GO:2000323 9.62 CRY2 CRY1 CLOCK ARNTL
18 response to redox state GO:0051775 9.61 NPAS2 CLOCK ARNTL
19 positive regulation of non-canonical Wnt signaling pathway GO:2000052 9.59 CSNK1E CSNK1D
20 regulation of hair cycle GO:0042634 9.58 CLOCK ARNTL
21 indolalkylamine biosynthetic process GO:0046219 9.58 ASMT AANAT
22 negative regulation of circadian rhythm GO:0042754 9.58 PER2 CRY2 CRY1
23 regulation of type B pancreatic cell development GO:2000074 9.57 CLOCK ARNTL
24 photoperiodism GO:0009648 9.56 CLOCK AANAT
25 negative regulation of glucocorticoid secretion GO:2000850 9.54 CRY2 CRY1
26 positive regulation of Wnt-mediated midbrain dopaminergic neuron differentiation GO:1905426 9.52 CSNK1E CSNK1D
27 melatonin biosynthetic process GO:0030187 9.51 ASMT AANAT
28 blue light signaling pathway GO:0009785 9.49 CRY2 CRY1
29 rhythmic process GO:0048511 9.44 PER3 PER2 OPN4 NR1D1 NPAS2 FBXL3

Molecular functions related to Delayed Sleep Phase Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region sequence-specific DNA binding GO:0000976 9.65 PER3 PER2 NR1D1 CRY2 ARNTL
2 nuclear hormone receptor binding GO:0035257 9.43 CRY2 CRY1
3 blue light photoreceptor activity GO:0009882 9.4 CRY2 CRY1
4 DNA (6-4) photolyase activity GO:0003914 9.37 CRY2 CRY1
5 photoreceptor activity GO:0009881 9.33 OPN4 CRY2 CRY1
6 deoxyribodipyrimidine photo-lyase activity GO:0003904 9.32 CRY2 CRY1
7 transcription corepressor binding GO:0001222 9.13 PER3 PER2 NR1D1
8 E-box binding GO:0070888 8.92 NR1D1 CRY1 CLOCK ARNTL

Sources for Delayed Sleep Phase Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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