Short Sleep, Familial Natural, 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 612975

OMIM Phenotypic Series ⁵⁷ PS612975

MedGen ⁴¹ C5200932

SNOMED-CT via HPO ⁶⁸ 263681008

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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).

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Related Diseases for Short Sleep, Familial Natural, 1

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

Short Sleep, Familial Natural, 2

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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)

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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

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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

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Anatomical Context for Short Sleep, Familial Natural, 1

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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	He Y...Fu YH	19679812	2009
2	A novel BHLHE41 variant is associated with short sleep and resistance to sleep deprivation in humans. ⁵⁷ ⁶	Pellegrino R...Pack AI	25083013	2014
3	Classification of sleep disorders. ⁵⁷	Thorpy MJ	2406285	1990
4	Genetics of the human circadian clock and sleep homeostat. ⁶¹	Ashbrook LH...Ptacek LJ	31400754	2020
5	Mutant neuropeptide S receptor reduces sleep duration with preserved memory consolidation. ⁶¹	Xing L...Fu YH	31619542	2019
6	Muscarinic Acetylcholine Receptors Chrm1 and Chrm3 Are Essential for REM Sleep. ⁶¹	Niwa Y...Ueda HR	30157420	2018
7	Transient knock-down of kcna2 reduces sleep in larval zebrafish. ⁶¹	Srdanovic S...Karlsson KA	28223099	2017
8	Anaplastic Lymphoma Kinase Acts in the Drosophila Mushroom Body to Negatively Regulate Sleep. ⁶¹	Bai L...Sehgal A	26536237	2015
9	Functional characterization of dopamine transporter in vivo using Drosophila melanogaster behavioral assays. ⁶¹	Ueno T...Kume K	25232310	2014
10	Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene. ⁶¹	D'Adamo MC...Klopstock T	25642194	2014
11	Identification of a dopamine pathway that regulates sleep and arousal in Drosophila. ⁶¹	Ueno T...Kume K	23064381	2012
12	High calorie diet augments age-associated sleep impairment in Drosophila. ⁶¹	Yamazaki M...Kume K	22197809	2012
13	The steroid molting hormone Ecdysone regulates sleep in adult Drosophila melanogaster. ⁶¹	Ishimoto H...Kitamoto T	20215472	2010

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Genes for Short Sleep, Familial Natural, 1

Genes related to Short Sleep, Familial Natural, 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BHLHE41	Basic Helix-Loop-Helix Family Member E41	Protein Coding	658	Molecular basis known ⁵⁷ Genetic Tests ²⁹ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁷ GeneCards inferred via : Variants (show sections)
2	SSPN	Sarcospan	Protein Coding	8	GeneCards inferred via : Variants (show sections)

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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

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Expression for Short Sleep, Familial Natural, 1

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

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Pathways for Short Sleep, Familial Natural, 1

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GO Terms for Short Sleep, Familial Natural, 1

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Sources for Short Sleep, Familial Natural, 1

¹ BioSystems

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²⁷ GEO DataSets

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³³ ICD10 via Orphanet

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³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

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⁴⁰ MalaCards

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⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

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⁶⁷ SNOMED-CT

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Short Sleep, Familial Natural, 1 (FNSS1)

Aliases & Classifications for Short Sleep, Familial Natural, 1

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

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Short Sleep, Familial Natural, 1

Related Diseases for Short Sleep, Familial Natural, 1

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

Symptoms & Phenotypes for Short Sleep, Familial Natural, 1

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Short Sleep, Familial Natural, 1

Interventional clinical trials:

Genetic Tests for Short Sleep, Familial Natural, 1

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

Anatomical Context for Short Sleep, Familial Natural, 1

Publications for Short Sleep, Familial Natural, 1

Articles related to Short Sleep, Familial Natural, 1:

Genes for Short Sleep, Familial Natural, 1

Genes related to Short Sleep, Familial Natural, 1 (1 elite genes):

Variations for Short Sleep, Familial Natural, 1

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

Expression 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