FNSS1
MCID: SHR121
MIFTS: 18

Short Sleep, Familial Natural, 1 (FNSS1)

Categories: Genetic diseases

Aliases & Classifications for Short Sleep, Familial Natural, 1

MalaCards integrated aliases for Short Sleep, Familial Natural, 1:

Name: Short Sleep, Familial Natural, 1 57 29 6
Sleep, Short, Natural, Familial, Type 1 39
Short Sleep Phenotype 57
Fnss1 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
two unrelated families have been reported
individuals require less sleep in a 24-hour period compared to age-matched controls
individuals are more resistant to the adverse neurobehavioral effects of sleep deprivation


HPO:

31
short sleep, familial natural, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 612975
OMIM Phenotypic Series 57 PS612975
MedGen 41 C5200932
SNOMED-CT via HPO 68 263681008

Summaries for Short Sleep, Familial Natural, 1

OMIM® : 57 In a review of various classification schemes for sleep disorders, Thorpy (1990) listed 'short sleeper' under the broad category of 'disorders of initiating and maintaining sleep' (DIMS); however, the short sleeper phenotype or trait is not considered a sleep disorder. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group. (612975) (Updated 05-Mar-2021)

MalaCards based summary : Short Sleep, Familial Natural, 1, is also known as sleep, short, natural, familial, type 1. An important gene associated with Short Sleep, Familial Natural, 1 is BHLHE41 (Basic Helix-Loop-Helix Family Member E41).

Related Diseases for Short Sleep, Familial Natural, 1

Symptoms & Phenotypes for Short Sleep, Familial Natural, 1

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
shorter daily total sleep times compared to age-matched controls
earlier sleep-offset time (earlier awakening)
normal sleep-onset time (normal time of falling asleep)
increased activity period

Clinical features from OMIM®:

612975 (Updated 05-Mar-2021)

Drugs & Therapeutics for Short Sleep, Familial Natural, 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Sleep Intervention to Improve Glycemic Control and Reduce Diabetes Distress in Working Adults With Type 1 Diabetes Completed NCT03617770

Search NIH Clinical Center for Short Sleep, Familial Natural, 1

Genetic Tests for Short Sleep, Familial Natural, 1

Genetic tests related to Short Sleep, Familial Natural, 1:

# Genetic test Affiliating Genes
1 Short Sleep, Familial Natural, 1 29 BHLHE41

Anatomical Context for Short Sleep, Familial Natural, 1

Publications for Short Sleep, Familial Natural, 1

Articles related to Short Sleep, Familial Natural, 1:

(show all 13)
# Title Authors PMID Year
1
The transcriptional repressor DEC2 regulates sleep length in mammals. 61 57 6
19679812 2009
2
A novel BHLHE41 variant is associated with short sleep and resistance to sleep deprivation in humans. 57 6
25083013 2014
3
Classification of sleep disorders. 57
2406285 1990
4
Genetics of the human circadian clock and sleep homeostat. 61
31400754 2020
5
Mutant neuropeptide S receptor reduces sleep duration with preserved memory consolidation. 61
31619542 2019
6
Muscarinic Acetylcholine Receptors Chrm1 and Chrm3 Are Essential for REM Sleep. 61
30157420 2018
7
Transient knock-down of kcna2 reduces sleep in larval zebrafish. 61
28223099 2017
8
Anaplastic Lymphoma Kinase Acts in the Drosophila Mushroom Body to Negatively Regulate Sleep. 61
26536237 2015
9
Functional characterization of dopamine transporter in vivo using Drosophila melanogaster behavioral assays. 61
25232310 2014
10
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene. 61
25642194 2014
11
Identification of a dopamine pathway that regulates sleep and arousal in Drosophila. 61
23064381 2012
12
High calorie diet augments age-associated sleep impairment in Drosophila. 61
22197809 2012
13
The steroid molting hormone Ecdysone regulates sleep in adult Drosophila melanogaster. 61
20215472 2010

Variations for Short Sleep, Familial Natural, 1

ClinVar genetic disease variations for Short Sleep, Familial Natural, 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BHLHE41 NM_030762.3(BHLHE41):c.1151C>G (p.Pro384Arg) SNV Affects 4530 rs121912617 12:26275297-26275297 12:26122364-26122364
2 BHLHE41 NM_030762.3(BHLHE41):c.1084T>C (p.Tyr362His) SNV Affects 691289 rs1591838266 12:26275364-26275364 12:26122431-26122431

Expression for Short Sleep, Familial Natural, 1

Search GEO for disease gene expression data for Short Sleep, Familial Natural, 1.

Pathways for Short Sleep, Familial Natural, 1

GO Terms for Short Sleep, Familial Natural, 1

Sources for Short Sleep, Familial Natural, 1

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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