MCID: ADV003
MIFTS: 20

Advanced Sleep Phase Syndrome, Familial, 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental 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 53 71 13 69
Fasps1 53 12 71
Familial Advanced Sleep Phase Syndrome 1 12 28
Sleep Disorders, Circadian Rhythm 41
Advanced Sleep Phase Syndrome 1 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
advanced sleep phase syndrome, familial, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 604348
Disease Ontology 12 DOID:0110011
MeSH 41 D020178
UMLS 69 C3807327

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 fasps1, is related to advanced sleep phase syndrome, familial, 2 and advanced sleep phase syndrome, familial, 3, and has symptoms including sleep-wake cycle disturbance and depressivity. An important gene associated with Advanced Sleep Phase Syndrome, Familial, 1 is PER2 (Period Circadian Regulator 2).

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

OMIM : 53 Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by Jones et al., 1999). (604348)

Related Diseases for Advanced Sleep Phase Syndrome, Familial, 1

Diseases in the Advanced Sleep Phase Syndrome family:

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

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

# Related Disease Score Top Affiliating Genes
1 advanced sleep phase syndrome, familial, 2 10.9
2 advanced sleep phase syndrome, familial, 3 10.9
3 sleep disorder 9.9

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

Symptoms via clinical synopsis from OMIM:

53
Neurologic Behavioral Psychiatric Manifestations:
early sleep onset (almost 4 hours advanced over controls)
early sleep offset (almost 4 hours advanced over controls)
short circadian rhythm cycle (tau)
'morning larks'
depression (in some patients)

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


Clinical features from OMIM:

604348

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

31
# Description HPO Frequency HPO Source Accession
1 sleep-wake cycle disturbance 31 hallmark (90%) HP:0006979
2 depressivity 31 HP:0000716

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

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Familial Advanced Sleep Phase Syndrome 1 28 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
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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