Advanced sleep phase syndrome, familial, 1

Preferred Label : Advanced sleep phase syndrome, familial, 1;

Symbol : FASPS1;

CISMeF acronym : FASPS1;

Type : Phenotype, molecular basis known;

Description : Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by Jones et al., 1999). - Genetic Heterogeneity of Advanced Sleep Phase Syndrome See also FASPS2 (615224), caused by mutation in the CSNK1D gene (600864) on chromosome 17q25.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the period circadian regulator 2 gene (PER2, 603426.0001);

Prefixed ID : #604348;

Details

Origin ID

604348;

UMLS CUI

C3807327;

Automatic exact mappings (from CISMeF team)
- Fellow of American College of Physicians [NCIt concept]
- sleep disorders, circadian rhythm [MeSH Descriptor]
Currated CISMeF NLP mapping
- Familial advanced sleep phase syndrome (disorder) [SNOMED CT concept]
- Familial advanced sleep-phase syndrome [ICD-11 More detail]
- Familial advanced sleep-phase syndrome [ORDO Disease]
- advanced Sleep-Phase syndrome, familial [MeSH concept]
- advanced Sleep-Phase syndrome, familial [MeSH Supplementary Concept]
- advanced sleep phase syndrome [DO Concept]
- familial advanced sleep phase syndrome [Disease (Nov.)]
DO Cross reference
- advanced sleep phase syndrome 1 [DO Concept]
Genes related to phenotype
- Period circadian regulator 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Depression [HPO term]
- Early chronotype [HPO term]
- Sleep-wake cycle disturbance [HPO term]
ORDO concept(s)
- Familial advanced sleep-phase syndrome [ORDO Disease]
See also inter- (CISMeF)
- advanced sleep phase syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- advanced sleep phase syndrome 1 [DO Concept]

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