FNSS2
MCID: SHR122
MIFTS: 9

Short Sleep, Familial Natural, 2 (FNSS2)

Categories: Genetic diseases

Aliases & Classifications for Short Sleep, Familial Natural, 2

MalaCards integrated aliases for Short Sleep, Familial Natural, 2:

Name: Short Sleep, Familial Natural, 2 56 6
Sleep, Short, Natural, Familial, Type 2 39
Fnss2 56

Characteristics:

OMIM:

56
Miscellaneous:
variable expressivity
one family has been reported (last curated september 2019)

Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 56 618591
OMIM Phenotypic Series 56 PS612975

Summaries for Short Sleep, Familial Natural, 2

MalaCards based summary : Short Sleep, Familial Natural, 2, is also known as sleep, short, natural, familial, type 2. An important gene associated with Short Sleep, Familial Natural, 2 is ADRB1 (Adrenoceptor Beta 1).

More information from OMIM: 618591 PS612975

Related Diseases for Short Sleep, Familial Natural, 2

Diseases in the Short Sleep, Familial Natural, 1 family:

Short Sleep, Familial Natural, 2

Symptoms & Phenotypes for Short Sleep, Familial Natural, 2

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
shortened sleep cycle (average 5.7 hours per night)

Clinical features from OMIM:

618591

Drugs & Therapeutics for Short Sleep, Familial Natural, 2

Search Clinical Trials , NIH Clinical Center for Short Sleep, Familial Natural, 2

Genetic Tests for Short Sleep, Familial Natural, 2

Anatomical Context for Short Sleep, Familial Natural, 2

Publications for Short Sleep, Familial Natural, 2

Articles related to Short Sleep, Familial Natural, 2:

# Title Authors PMID Year
1
A Rare Mutation of β1-Adrenergic Receptor Affects Sleep/Wake Behaviors. 6 56
31473062 2019

Variations for Short Sleep, Familial Natural, 2

ClinVar genetic disease variations for Short Sleep, Familial Natural, 2:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADRB1 ADRB1, ALA187VALSNV Affects 691285

Expression for Short Sleep, Familial Natural, 2

Search GEO for disease gene expression data for Short Sleep, Familial Natural, 2.

Pathways for Short Sleep, Familial Natural, 2

GO Terms for Short Sleep, Familial Natural, 2

Sources for Short Sleep, Familial Natural, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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