Circadian rhythm sleep disorder
diseaseOn this page
Also known as circadian sleep disorder
Summary
Circadian rhythm sleep disorder (MONDO:0024361) is a disease (an umbrella term covering 8 Mondo subtypes) with 5 GWAS associations across 3 studies and 15 clinical trials. Top therapeutic interventions include tasimelteon. A subtype of sleep-wake disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 8 Mondo subtypes
- GWAS associations: 5
- Clinical trials: 15
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | circadian rhythm sleep disorder |
| Mondo ID | MONDO:0024361 |
| MeSH | D020178 |
| ICD-10-CM | G47.2 |
| NCIT | C95071 |
| UMLS | C0877792 |
| MedGen | 167920 |
| Is cancer (heuristic) | no |
Also known as: circadian sleep disorder
Data availability: 5 GWAS associations (3 studies).
Disease family
This is a subtype of sleep-wake disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by developmental or physiological process › sleep disorder › sleep-wake disorder › circadian rhythm sleep disorder
Related subtypes (11): bruxism, recurrent hypersomnia, sleep apnea syndrome, hypersomnia, periodic limb movement disorder, REM sleep behavior disorder, autosomal dominant cerebellar ataxia, deafness and narcolepsy, hereditary sensory neuropathy-deafness-dementia syndrome, autoimmune encephalopathy with parasomnia and obstructive sleep apnea, narcolepsy, sleep disorder, initiating and maintaining sleep
Subtypes (8): advanced sleep phase syndrome, non-24-hour sleep-wake syndrome, rapid eye movement sleep disorder, circadian rhythm sleep disorder, delayed sleep phase type, circadian rhythm sleep disorder, advanced sleep phase type, circadian rhythm sleep disorder, irregular sleep wake type, circadian rhythm sleep disorder, jet lag type, circadian rhythm sleep disorder, shift work type
Genetics & variants
GWAS landscape
5 GWAS associations across 3 studies. Top hits map to 5 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs535929585 | 7e-12 | CNTN5 | C | 3.02 |
| rs539540831 | 1e-11 | LINC02755 | G | 2.98 |
| rs575711276 | 2e-11 | CYTH3 | C | 3.28 |
| rs551140100 | 3e-11 | OR2F1 | G | 2.79 |
| rs77274901 | 3e-11 | LINC00358 | G | 2.15 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90477500 | Verma A | 2024 | 1,077 | 447,796 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480001 | Verma A | 2024 | 407 | 120,582 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481858 | Verma A | 2024 | 407 | 120,582 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 5 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 5 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 4 |
| intergenic_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs535929585 | 11 | 99425887 | C>A,T | 0 | intron_variant | CNTN5 | 7e-12 | Tier 4: intronic/intergenic |
| rs539540831 | 11 | 29899450 | G>A | 0.001 | intron_variant | LINC02755 | 1e-11 | Tier 4: intronic/intergenic |
| rs575711276 | 7 | 6249476 | C>G,T | 0 | intron_variant | CYTH3 | 2e-11 | Tier 4: intronic/intergenic |
| rs551140100 | 7 | 143993840 | G>A | 0 | intergenic_variant | OR2F1 | 3e-11 | Tier 4: intronic/intergenic |
| rs77274901 | 13 | 62009334 | G>A,T | 0.001 | intron_variant | LINC00358 | 3e-11 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated for this disease
1 approved. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Tasimelteon | Approved (phase 4) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Lemborexant.
Clinical trials & evidence
Clinical trials
Clinical trials: 15.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 12 |
| PHASE3 | 1 |
| PHASE2 | 1 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03682185 | PHASE3 | COMPLETED | The Healthy Patterns Sleep Study |
| NCT00490945 | PHASE2 | COMPLETED | Safety and Efficacy of VEC-162 on Circadian Rhythm in Healthy Adult Volunteers |
| NCT02776215 | PHASE1 | COMPLETED | Study of the Pharmacokinetics and Safety of Tasimelteon in Children and Adolescents |
| NCT06669507 | Not specified | RECRUITING | The Sleep Clinic Outcome and Practice Study |
| NCT00246454 | Not specified | COMPLETED | Circadian Rhythms and Sleep in Familial DSPS and ASPS |
| NCT00427323 | Not specified | SUSPENDED | Light Exposure to Treat Sleep Disruption in Older People |
| NCT02037438 | Not specified | COMPLETED | Sustainable Methods, Algorithms, and Research Tools for Delivering Optimal Care Study |
| NCT03254836 | Not specified | UNKNOWN | Sleep and Survival in Colorectal Cancer |
| NCT04094376 | Not specified | COMPLETED | Comparison of Morning Operation and Evening Operation on Postoperative Sleep Quality and Pain Under General Anesthesia |
| NCT04157244 | Not specified | COMPLETED | The Music, Sleep and Dementia Study |
| NCT04690504 | Not specified | COMPLETED | Validation of Circadian Biomarkers in Patients With Sleep Disorders |
| NCT04786899 | Not specified | COMPLETED | Sleep & Postoperative Delirium in Hispanic/ Latino Patients After Cardiothoracic Surgery |
| NCT05569603 | Not specified | UNKNOWN | Effects of Chronobiology-guided Lifestyle Interventions on Insomnia Severity, Cognitive Performance, and Sleepiness |
| NCT05618405 | Not specified | COMPLETED | Changes in Circadian Rhythm After Anaesthesia in Children |
| NCT07385768 | Not specified | COMPLETED | Effect of an Eye Mask-Based Blackout Protocol on Sleep Quality and Melatonin |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| TASIMELTEON | 4 | 2 |
Related Atlas pages
- Drugs: Tasimelteon