FASPS1
MCID: ADV003
MIFTS: 20

Advanced Sleep Phase Syndrome, Familial, 1 (FASPS1)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 58 76 13 74
Familial Advanced Sleep Phase Syndrome 1 12 30 6
Fasps1 58 12 76
Sleep Disorders, Circadian Rhythm 45
Advanced Sleep Phase Syndrome 1 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
advanced sleep phase syndrome, familial, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110011
OMIM 58 604348
MeSH 45 D020178
UMLS 74 C3807327

Summaries for Advanced Sleep Phase Syndrome, Familial, 1

UniProtKB/Swiss-Prot : 76 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, 2 and advanced sleep phase syndrome, familial, 3. An important gene associated with Advanced Sleep Phase Syndrome, Familial, 1 is PER2 (Period Circadian Regulator 2). Related phenotypes are sleep-wake cycle disturbance and depressivity

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

OMIM : 58 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 11.1
2 advanced sleep phase syndrome, familial, 3 11.1

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

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

33
# Description HPO Frequency HPO Source Accession
1 sleep-wake cycle disturbance 33 hallmark (90%) HP:0006979
2 depressivity 33 HP:0000716
3 early chronotype 33 HP:0031873

Symptoms via clinical synopsis from OMIM:

58
Neurologic Behavioral Psychiatric Manifestations:
depression (in some patients)
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'

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

Clinical features from OMIM:

604348

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 30 PER2

Anatomical Context for Advanced Sleep Phase Syndrome, Familial, 1

Publications for Advanced Sleep Phase Syndrome, Familial, 1

Articles related to Advanced Sleep Phase Syndrome, Familial, 1:

# Title Authors Year
1
An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. ( 11232563 )
2001

Variations for Advanced Sleep Phase Syndrome, Familial, 1

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

76
# 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
2 PER2 NM_022817.2(PER2): c.1984A> G (p.Ser662Gly) single nucleotide variant Pathogenic rs121908635 GRCh38 Chromosome 2, 238257003: 238257003

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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