Advanced sleep phase syndrome, familial, 2

Preferred Label : Advanced sleep phase syndrome, familial, 2;

Symbol : FASPS2;

CISMeF acronym : FASPS2;

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). For a discussion of genetic heterogeneity of advanced sleep phase syndrome, see FASPS1 (604348).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the casein kinase 1, delta, gene (CSNK1D, 600864.0001);

Prefixed ID : #615224;

Details

Origin ID

615224;

UMLS CUI

C3808874;

Automatic exact mappings (from CISMeF team)
- CSNK1D wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- advanced sleep phase syndrome 2 [DO Concept]
DO Cross reference
- advanced sleep phase syndrome 2 [DO Concept]
Genes related to phenotype
- Casein kinase I, delta [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Early chronotype [HPO term]
- Migraine [HPO term]
- Migraine with aura [HPO term]
- Migraine without aura [HPO term]
- Sleep-wake cycle disturbance [HPO term]
ORDO concept(s)
- Familial advanced sleep-phase syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- advanced sleep phase syndrome 2 [DO Concept]
Validated automatic mappings to NTBT
- Familial advanced sleep-phase syndrome [ORDO Disease]

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