FASPS2
MCID: ADV007
MIFTS: 18

Advanced Sleep Phase Syndrome, Familial, 2 (FASPS2)

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

Aliases & Classifications for Advanced Sleep Phase Syndrome, Familial, 2

MalaCards integrated aliases for Advanced Sleep Phase Syndrome, Familial, 2:

Name: Advanced Sleep Phase Syndrome, Familial, 2 57 75 29 6 40 73
Advanced Sleep-Phase Syndrome, Familial, 2 57 13
Fasps2 57 75

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, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615224
MeSH 44 D020178
UMLS 73 C3808874

Summaries for Advanced Sleep Phase Syndrome, Familial, 2

OMIM : 57 Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by Jones et al., 1999). For a discussion of genetic heterogeneity of advanced sleep phase syndrome, see FASPS1 (604348). (615224)

MalaCards based summary : Advanced Sleep Phase Syndrome, Familial, 2, also known as advanced sleep-phase syndrome, familial, 2, is related to advanced sleep phase syndrome 2. An important gene associated with Advanced Sleep Phase Syndrome, Familial, 2 is CSNK1D (Casein Kinase 1 Delta). Related phenotypes are migraine and sleep-wake cycle disturbance

UniProtKB/Swiss-Prot : 75 Advanced sleep phase syndrome, familial, 2: 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.

Related Diseases for Advanced Sleep Phase Syndrome, Familial, 2

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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 advanced sleep phase syndrome 2 11.5

Symptoms & Phenotypes for Advanced Sleep Phase Syndrome, Familial, 2

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)
migraine, with or without aura

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


Clinical features from OMIM:

615224

Human phenotypes related to Advanced Sleep Phase Syndrome, Familial, 2:

32
# Description HPO Frequency HPO Source Accession
1 migraine 32 HP:0002076
2 sleep-wake cycle disturbance 32 HP:0006979
3 migraine with aura 32 HP:0002077
4 migraine without aura 32 HP:0002083
5 early chronotype 32 HP:0031873

Drugs & Therapeutics for Advanced Sleep Phase Syndrome, Familial, 2

Search Clinical Trials , NIH Clinical Center for Advanced Sleep Phase Syndrome, Familial, 2

Genetic Tests for Advanced Sleep Phase Syndrome, Familial, 2

Genetic tests related to Advanced Sleep Phase Syndrome, Familial, 2:

# Genetic test Affiliating Genes
1 Advanced Sleep Phase Syndrome, Familial, 2 29 CSNK1D

Anatomical Context for Advanced Sleep Phase Syndrome, Familial, 2

Publications for Advanced Sleep Phase Syndrome, Familial, 2

Variations for Advanced Sleep Phase Syndrome, Familial, 2

UniProtKB/Swiss-Prot genetic disease variations for Advanced Sleep Phase Syndrome, Familial, 2:

75
# Symbol AA change Variation ID SNP ID
1 CSNK1D p.Thr44Ala VAR_029075 rs104894561
2 CSNK1D p.His46Arg VAR_069801 rs397514693

ClinVar genetic disease variations for Advanced Sleep Phase Syndrome, Familial, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CSNK1D NM_001893.4(CSNK1D): c.130A> G (p.Thr44Ala) single nucleotide variant Pathogenic rs104894561 GRCh37 Chromosome 17, 80223619: 80223619
2 CSNK1D NM_001893.4(CSNK1D): c.130A> G (p.Thr44Ala) single nucleotide variant Pathogenic rs104894561 GRCh38 Chromosome 17, 82265743: 82265743
3 CSNK1D NM_001893.4(CSNK1D): c.137A> G (p.His46Arg) single nucleotide variant Pathogenic rs397514693 GRCh37 Chromosome 17, 80223612: 80223612
4 CSNK1D NM_001893.4(CSNK1D): c.137A> G (p.His46Arg) single nucleotide variant Pathogenic rs397514693 GRCh38 Chromosome 17, 82265736: 82265736

Expression for Advanced Sleep Phase Syndrome, Familial, 2

Search GEO for disease gene expression data for Advanced Sleep Phase Syndrome, Familial, 2.

Pathways for Advanced Sleep Phase Syndrome, Familial, 2

GO Terms for Advanced Sleep Phase Syndrome, Familial, 2

Sources for Advanced Sleep Phase Syndrome, Familial, 2

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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