MCID: ADV003
MIFTS: 20

Advanced Sleep Phase Syndrome, Familial, 1

Categories: Genetic diseases, Mental diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Advanced Sleep Phase Syndrome, Familial, 1

MalaCards integrated aliases for Advanced Sleep Phase Syndrome, Familial, 1:

Name: Advanced Sleep Phase Syndrome, Familial, 1 54 71 13 69
Familial Advanced Sleep Phase Syndrome 1 12 24 29
Fasps1 12 24 71
Sleep Disorders, Circadian Rhythm 42
Advanced Sleep Phase Syndrome 1 12

Characteristics:

OMIM:

54
Miscellaneous:
onset in childhood, but most noticeable in mid-teens and early adulthood

Inheritance:
autosomal dominant


HPO:

32
advanced sleep phase syndrome, familial, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 604348
Disease Ontology 12 DOID:0110011
MedGen 40 C1858496
MeSH 42 D020178

Summaries for Advanced Sleep Phase Syndrome, Familial, 1

UniProtKB/Swiss-Prot : 71 Advanced sleep phase syndrome, familial, 1: A disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms.

MalaCards based summary : Advanced Sleep Phase Syndrome, Familial, 1, also known as familial advanced sleep phase syndrome 1, is related to advanced sleep phase syndrome, familial, 3 and advanced sleep-phase syndrome, familial, 2, and has symptoms including depression and sleep-wake cycle disturbance. An important gene associated with Advanced Sleep Phase Syndrome, Familial, 1 is PER2 (Period Circadian Clock 2).

OMIM : 54
Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by Jones et al., 1999). (604348)

Disease Ontology : 12 An advanced sleep phase syndrome that has material basis in heterozygous mutation in the PER2 gene on chromosome 2q37.

Related Diseases for Advanced Sleep Phase Syndrome, Familial, 1

Diseases in the Advanced Sleep Phase Syndrome family:

Advanced Sleep Phase Syndrome, Familial, 3 Advanced Sleep Phase Syndrome, Familial, 1
Advanced Sleep-Phase Syndrome, Familial, 2

Diseases related to Advanced Sleep Phase Syndrome, Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 advanced sleep phase syndrome, familial, 3 10.8
2 advanced sleep-phase syndrome, familial, 2 10.8
3 sleep disorder 10.0

Symptoms & Phenotypes for Advanced Sleep Phase Syndrome, Familial, 1

Symptoms via clinical synopsis from OMIM:

54

Metabolic Features:
melatonin rhythm phase-advanced by 3-4 hours
temperature rhythm phase-advanced by 3-4 hours

Neurologic- Behavioral Psychiatric Manifestations:
depression (in some patients)
short circadian rhythm cycle (tau)
'morning larks'
early sleep offset (almost 4 hours advanced over controls)
early sleep onset (almost 4 hours advanced over controls)


Clinical features from OMIM:

604348

Human phenotypes related to Advanced Sleep Phase Syndrome, Familial, 1:

32
id Description HPO Frequency HPO Source Accession
1 depression 32 HP:0000716
2 sleep-wake cycle disturbance 32 hallmark (90%) HP:0006979

Drugs & Therapeutics for Advanced Sleep Phase Syndrome, Familial, 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Circadian Rhythms and Sleep in Familial DSPS and ASPS Recruiting NCT00246454

Search NIH Clinical Center for Advanced Sleep Phase Syndrome, Familial, 1

Cochrane evidence based reviews: sleep disorders, circadian rhythm

Genetic Tests for Advanced Sleep Phase Syndrome, Familial, 1

Genetic tests related to Advanced Sleep Phase Syndrome, Familial, 1:

id Genetic test Affiliating Genes
1 Familial Advanced Sleep Phase Syndrome 1 29 24 PER2

Anatomical Context for Advanced Sleep Phase Syndrome, Familial, 1

Publications for Advanced Sleep Phase Syndrome, Familial, 1

Variations for Advanced Sleep Phase Syndrome, Familial, 1

UniProtKB/Swiss-Prot genetic disease variations for Advanced Sleep Phase Syndrome, Familial, 1:

71
id Symbol AA change Variation ID SNP ID
1 PER2 p.Ser662Gly VAR_029080 rs121908635

ClinVar genetic disease variations for Advanced Sleep Phase Syndrome, Familial, 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PER2 NM_022817.2(PER2): c.1984A> G (p.Ser662Gly) single nucleotide variant Pathogenic rs121908635 GRCh37 Chromosome 2, 239165644: 239165644

Expression for Advanced Sleep Phase Syndrome, Familial, 1

Search GEO for disease gene expression data for Advanced Sleep Phase Syndrome, Familial, 1.

Pathways for Advanced Sleep Phase Syndrome, Familial, 1

GO Terms for Advanced Sleep Phase Syndrome, Familial, 1

Sources for Advanced Sleep Phase Syndrome, Familial, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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