FASPS3
MCID: ADV006
MIFTS: 16

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 75 6
Fasps3 57 12 75
Familial Advanced Sleep Phase Syndrome 3 12
Advanced Sleep Phase Syndrome 3 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
advanced sleep phase syndrome, familial, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616882
Disease Ontology 12 DOID:0110013
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)

MalaCards based summary : Advanced Sleep Phase Syndrome, Familial, 3, is also known as fasps3. An important gene associated with Advanced Sleep Phase Syndrome, Familial, 3 is PER3 (Period Circadian Regulator 3). 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 : 75 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

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
depression
early sleep onset
early sleep offset
short circadian rhythm cycle
seasonal affective disorder


Clinical features from OMIM:

616882

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

32
# Description HPO Frequency HPO Source Accession
1 depressivity 32 HP:0000716
2 early chronotype 32 HP:0031873

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

Anatomical Context for Advanced Sleep Phase Syndrome, Familial, 3

Publications for Advanced Sleep Phase Syndrome, Familial, 3

Variations for Advanced Sleep Phase Syndrome, Familial, 3

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PER3 NM_016831.2(PER3): c.1247A> G (p.His416Arg) single nucleotide variant Pathogenic rs139315125 GRCh37 Chromosome 1, 7869960: 7869960
2 PER3 NM_016831.2(PER3): c.1247A> G (p.His416Arg) single nucleotide variant Pathogenic rs139315125 GRCh38 Chromosome 1, 7809900: 7809900
3 PER3 NM_016831.2(PER3): c.1240C> G (p.Pro414Ala) single nucleotide variant Pathogenic rs150812083 GRCh37 Chromosome 1, 7869953: 7869953
4 PER3 NM_016831.2(PER3): c.1240C> G (p.Pro414Ala) single nucleotide variant Pathogenic rs150812083 GRCh38 Chromosome 1, 7809893: 7809893

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

GO Terms for Advanced Sleep Phase Syndrome, Familial, 3

Sources for Advanced Sleep Phase Syndrome, Familial, 3

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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