Features include always present findings: Migraine. 5 total HPO annotations.

CSNK1D encodes casein kinase 1 delta (415 aa). Essential serine/threonine-protein kinase that regulates diverse cellular growth and survival processes including Wnt signaling, DNA repair and circadian rhythms. Highest expression in Uterus (119.8 TPM) and Spleen (115.5 TPM).

Advanced sleep phase syndrome 2 is associated with mutations in the CSNK1D gene on chromosome 17.

The CSNK1D protein participates in p-S-CRY:p-S-PER:CSNK1D,E:p-S90,Ac-538-BMAL1:p-4S,2T-CLOCK dissociates from target gene and Proteolysis of K48polyUb-K,p-S-PER1,2,3 pathways.

CSNK1D is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 2.4.

Genetic testing for CSNK1D is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for advanced sleep phase syndrome 2 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature.

No clinical trials have been registered for advanced sleep phase syndrome 2.

232 publications have been identified in PubMed for advanced sleep phase syndrome 2. Kisho has analyzed 159 by research type. Research spans Epidemiology / Natural History (41%), Review / Meta-Analysis (37%), and Basic Science / Preclinical (12%).