FASPS2
MCID: ADV007
MIFTS: 19

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 72 29 6 70
Fasps2 57 12 72
Advanced Sleep-Phase Syndrome, Familial, 2 57 13
Sleep Phase Syndrome, Advanced, Familial, Type 2 39
Familial Advanced Sleep Phase Syndrome 2 12
Advanced Sleep Phase Syndrome 2 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
advanced sleep phase syndrome, familial, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110012
OMIM® 57 615224
OMIM Phenotypic Series 57 PS604348
MeSH 44 D020178
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Advanced Sleep Phase Syndrome, Familial, 2, is also known as fasps2. 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

Disease Ontology : 12 An advanced sleep phase syndrome that has material basis in heterozygous mutation in the CSNK1D gene on chromosome 17q25.

UniProtKB/Swiss-Prot : 72 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

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

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

31
# Description HPO Frequency HPO Source Accession
1 migraine 31 HP:0002076
2 sleep-wake cycle disturbance 31 HP:0006979
3 migraine with aura 31 HP:0002077
4 migraine without aura 31 HP:0002083
5 early chronotype 31 HP:0031873

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Articles related to Advanced Sleep Phase Syndrome, Familial, 2:

# Title Authors PMID Year
1
Casein kinase iδ mutations in familial migraine and advanced sleep phase. 57 6
23636092 2013
2
Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome. 57 6
15800623 2005
3
Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans. 57
10470086 1999

Variations for Advanced Sleep Phase Syndrome, Familial, 2

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CSNK1D NM_139062.4(CSNK1D):c.130A>G (p.Thr44Ala) SNV Pathogenic 8741 rs104894561 GRCh37: 17:80223619-80223619
GRCh38: 17:82265743-82265743
2 CSNK1D NM_139062.4(CSNK1D):c.137A>G (p.His46Arg) SNV Pathogenic 50319 rs397514693 GRCh37: 17:80223612-80223612
GRCh38: 17:82265736-82265736

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

72
# Symbol AA change Variation ID SNP ID
1 CSNK1D p.Thr44Ala VAR_029075 rs104894561
2 CSNK1D p.His46Arg VAR_069801 rs397514693

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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