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 57 75 13 73
Familial Advanced Sleep Phase Syndrome 1 12 29 6
Fasps1 57 12 75
Sleep Disorders, Circadian Rhythm 44
Advanced Sleep Phase Syndrome 1 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



External Ids:

OMIM 57 604348
Disease Ontology 12 DOID:0110011
MeSH 44 D020178
UMLS 73 C3807327

Summaries for Advanced Sleep Phase Syndrome, Familial, 1

UniProtKB/Swiss-Prot : 75 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 depressivity and sleep-wake cycle disturbance

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

OMIM : 57 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:

57
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:

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

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 29 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:

75
# 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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