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Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene.
Features include very common findings: Sleep-wake cycle disturbance. 3 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 1 | Depression |
Age of onset: adolescence.
PER2 function has not been fully characterized.
Advanced sleep phase syndrome 1 is associated with mutations in the PER2 gene on chromosome 2.
Genetic testing for PER2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for advanced sleep phase syndrome 1 has been reported in the published literature.
Phenotype severity distribution: 1 very common feature.
No clinical trials have been registered for advanced sleep phase syndrome 1.
253 publications have been identified in PubMed for advanced sleep phase syndrome 1. Research spans Epidemiology / Natural History (39%), Review / Meta-Analysis (28%), and Basic Science / Preclinical (21%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 79 | 39% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 8:16 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about advanced sleep phase syndrome 1
Research summaries
58 |
28% |
Laboratory research | 43 | 21% |
Clinical study results | 16 | 8% |
New treatment approaches | 4 | 2% |
Other research | 2 | 1% |
Patient case studies | 2 | 1% |
Testing and diagnosis research | 1 | 0% |
Jääkallio P (2026). [PMID: 41371273](https://pubmed.ncbi.nlm.nih.gov/41371273/). *Pediatrics*. [Epidemiology / Natural History]
Kragh M (2026). [PMID: 40345174](https://pubmed.ncbi.nlm.nih.gov/40345174/). *J Sleep Res*. [Clinical Trial Publication]
Lettieri CJ (2026). [PMID: 40660750](https://pubmed.ncbi.nlm.nih.gov/40660750/). *J Sleep Res*. [Clinical Trial Publication]
Pagkalidou E (2026). [PMID: 41558391](https://pubmed.ncbi.nlm.nih.gov/41558391/). *Sleep Med Rev*. [Review / Meta-Analysis]
Bai WL (2026). [PMID: 41443528](https://pubmed.ncbi.nlm.nih.gov/41443528/). *Exp Eye Res*. [Basic Science / Preclinical]
Ramirez-Plascencia OD (2026). [PMID: 41946720](https://pubmed.ncbi.nlm.nih.gov/41946720/). *Nat Commun*. [Basic Science / Preclinical]
Gardner W (2026). [PMID: 41023421](https://pubmed.ncbi.nlm.nih.gov/41023421/). *Mol Psychiatry*. [Basic Science / Preclinical]
Pride NA (2026). [PMID: 41670329](https://pubmed.ncbi.nlm.nih.gov/41670329/). *Sleep*. [Basic Science / Preclinical]
Van Hul M (2026). [PMID: 41237775](https://pubmed.ncbi.nlm.nih.gov/41237775/). *Cell Metab*. [Review / Meta-Analysis]
Cueto C (2026). [PMID: 40736540](https://pubmed.ncbi.nlm.nih.gov/40736540/). *Psychopharmacology (Berl)*. [Gene Therapy / Novel Therapeutics]