FASPS3
MCID: ADV006
MIFTS: 26

Advanced Sleep Phase Syndrome, Familial, 3 (FASPS3)

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

Aliases & Classifications for Advanced Sleep Phase Syndrome, Familial, 3

MalaCards integrated aliases for Advanced Sleep Phase Syndrome, Familial, 3:

Name: Advanced Sleep Phase Syndrome, Familial, 3 57 72 29 6
Fasps3 57 12 72
Advanced Sleep Phase Syndrome 3 12 15
Sleep Phase Syndrome, Advanced, Familial, Type 3 39
Familial Advanced Sleep Phase Syndrome 3 12

Characteristics:

OMIM®:

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

Miscellaneous:
one family has been reported (last curated march 2016)


HPO:

31
advanced sleep phase syndrome, familial, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110013
OMIM® 57 616882
OMIM Phenotypic Series 57 PS604348
MeSH 44 D020178

Summaries for Advanced Sleep Phase Syndrome, Familial, 3

OMIM® : 57 Advanced sleep phase syndrome is characterized by early sleep time (sleep onset) and early morning awakening (sleep offset) (summary by Zhang et al., 2016). For a discussion of genetic heterogeneity of advanced sleep phase syndrome, see FASPS1 (604348). (616882) (Updated 20-May-2021)

MalaCards based summary : Advanced Sleep Phase Syndrome, Familial, 3, also known as fasps3, is related to mood disorder and griscelli syndrome. An important gene associated with Advanced Sleep Phase Syndrome, Familial, 3 is PER3 (Period Circadian Regulator 3), and among its related pathways/superpathways is Signaling in Gap Junctions. Related phenotypes are depressivity and early chronotype

Disease Ontology : 12 An advanced sleep phase syndrome that has material basis in heterozygous mutation in the PER3 gene on chromosome 1p36.23.

UniProtKB/Swiss-Prot : 72 Advanced sleep phase syndrome, familial, 3: 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, 3

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

Diseases related to Advanced Sleep Phase Syndrome, Familial, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mood disorder 9.7 PER3 CNR2
2 griscelli syndrome 9.6 TYR LGALS4
3 advanced sleep phase syndrome, familial, 1 9.5 SLK PER3 LGALS4

Symptoms & Phenotypes for Advanced Sleep Phase Syndrome, Familial, 3

Human phenotypes related to Advanced Sleep Phase Syndrome, Familial, 3:

31
# Description HPO Frequency HPO Source Accession
1 depressivity 31 HP:0000716
2 early chronotype 31 HP:0031873

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Behavioral Psychiatric Manifestations:
depression
early sleep onset
early sleep offset
short circadian rhythm cycle
seasonal affective disorder

Clinical features from OMIM®:

616882 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Advanced Sleep Phase Syndrome, Familial, 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 8.8 CNR2 SLK
2 Decreased substrate adherent cell growth GR00193-A-2 8.8 CNR2

Drugs & Therapeutics for Advanced Sleep Phase Syndrome, Familial, 3

Search Clinical Trials , NIH Clinical Center for Advanced Sleep Phase Syndrome, Familial, 3

Genetic Tests for Advanced Sleep Phase Syndrome, Familial, 3

Genetic tests related to Advanced Sleep Phase Syndrome, Familial, 3:

# Genetic test Affiliating Genes
1 Advanced Sleep Phase Syndrome, Familial, 3 29 PER3

Anatomical Context for Advanced Sleep Phase Syndrome, Familial, 3

Publications for Advanced Sleep Phase Syndrome, Familial, 3

Articles related to Advanced Sleep Phase Syndrome, Familial, 3:

# Title Authors PMID Year
1
A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait. 6 57
26903630 2016
2
The protein kinase FaSnRK1α regulates sucrose accumulation in strawberry fruits. 61
32276220 2020
3
FaMYB44.2, a transcriptional repressor, negatively regulates sucrose accumulation in strawberry receptacles through interplay with FaMYB10. 61
30085079 2018

Variations for Advanced Sleep Phase Syndrome, Familial, 3

ClinVar genetic disease variations for Advanced Sleep Phase Syndrome, Familial, 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PER3 NM_016831.3(PER3):c.1247A>G (p.His416Arg) SNV Pathogenic 224889 rs139315125 GRCh37: 1:7869960-7869960
GRCh38: 1:7809900-7809900
2 PER3 NM_016831.3(PER3):c.1247A>G (p.His416Arg) SNV Pathogenic 242411 rs139315125 GRCh37: 1:7869960-7869960
GRCh38: 1:7809900-7809900
3 PER3 NM_016831.3(PER3):c.1240C>G (p.Pro414Ala) SNV Pathogenic 242410 rs150812083 GRCh37: 1:7869953-7869953
GRCh38: 1:7809893-7809893
4 PER3 NM_001377275.1(PER3):c.2732_2733del (p.Glu911fs) Microsatellite Pathogenic 1031975 GRCh37: 1:7887716-7887717
GRCh38: 1:7827656-7827657
5 PER3 NM_001377275.1(PER3):c.31A>T (p.Arg11Ter) SNV Pathogenic 1031976 GRCh37: 1:7844968-7844968
GRCh38: 1:7784908-7784908

Expression for Advanced Sleep Phase Syndrome, Familial, 3

Search GEO for disease gene expression data for Advanced Sleep Phase Syndrome, Familial, 3.

Pathways for Advanced Sleep Phase Syndrome, Familial, 3

Pathways related to Advanced Sleep Phase Syndrome, Familial, 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.83 GJE1 GJC1

GO Terms for Advanced Sleep Phase Syndrome, Familial, 3

Cellular components related to Advanced Sleep Phase Syndrome, Familial, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 connexin complex GO:0005922 8.62 GJE1 GJC1

Biological processes related to Advanced Sleep Phase Syndrome, Familial, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell communication GO:0007154 8.62 GJE1 GJC1

Molecular functions related to Advanced Sleep Phase Syndrome, Familial, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJE1 GJC1

Sources for Advanced Sleep Phase Syndrome, Familial, 3

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
Content
Loading form....