ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1

General Information (adopted from Orphanet):

Synonyms, Signs: FASPS1
Number of Symptoms 7
OrphanetNr:
OMIM Id: 604348
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000716) Depression 99 / 7739
2
(OMIM) Temperature rhythm phase-advanced by 3-4 hours 2 / 7739
3
(OMIM) 'Morning larks' 1 / 7739
4
(OMIM) Short circadian rhythm cycle (tau) 2 / 7739
5
(OMIM) Early sleep offset (almost 4 hours advanced over controls) 2 / 7739
6
(OMIM) Early sleep onset (almost 4 hours advanced over controls) 2 / 7739
7
(OMIM) Melatonin rhythm phase-advanced by 3-4 hours 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...

Clinical Description OMIM Advanced sleep phase syndrome is characterized by very early sleep onset and offset. Jones et al. (1999) stated that only 2 cases had been reported in young adults (Billiard et al., 1993; Singer and Lewy, 1989). Using strict ...
Molecular genetics OMIM In affected members of a family with FASPS mapping to chromosome 2q, Toh et al. (2001) identified a heterozygous mutation in the PER2 gene (S662G; 603426.0001). This mutation caused hypophosphorylation by casein kinase I-epsilon (CSNK1E; 600863) in vitro. ...