Details of Disease

General Information of Disease (ID: DIS28KRD)

Disease Name Advanced sleep phase syndrome
Synonyms familial advanced sleep phase syndrome; advanced sleep phase syndrome, familial; familial advanced sleep-phase syndrome; FASPS
Definition A very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions.
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISYJ7PE: Circadian rhythm sleep disorder
DIS28KRD: Advanced sleep phase syndrome
Disease Identifiers
MONDO ID
MONDO_0015609
MESH ID
C565789
UMLS CUI
C1858496
MedGen ID
348956
Orphanet ID
164736
SNOMED CT ID
715829003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CSNK1D TTH30UI Supportive Autosomal dominant [1]
CSNK1D TTH30UI Strong GermlineCausalMutation [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CSNK1D OTNF4S77 Supportive Autosomal dominant [1]
PER2 OTU2B1DJ Supportive Autosomal dominant [2]
PER3 OTVKYVJA Supportive Autosomal dominant [3]
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References

1 Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome. Nature. 2005 Mar 31;434(7033):640-4. doi: 10.1038/nature03453.
2 An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. Science. 2001 Feb 9;291(5506):1040-3. doi: 10.1126/science.1057499.
3 A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait. Proc Natl Acad Sci U S A. 2016 Mar 15;113(11):E1536-44. doi: 10.1073/pnas.1600039113. Epub 2016 Feb 22.