MCID: SHR040
MIFTS: 19

Short Sleeper

Categories: Genetic diseases

Aliases & Classifications for Short Sleeper

MalaCards integrated aliases for Short Sleeper:

Name: Short Sleeper 57
Short-Sleeper 29 6
Short Sleeper Syndrome 73
Short Sleep Phenotype 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
one family has been reported


HPO:

32
short sleeper:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612975
MedGen 42 C0751509
SNOMED-CT via HPO 69 263681008
UMLS 73 C0751509

Summaries for Short Sleeper

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. See also familial advanced sleep-phase syndrome (FASPS; 604348), which is a distinct disorder characterized by very early sleep onset and offset. (612975)

MalaCards based summary : Short Sleeper, is also known as short-sleeper, and has symptoms including sleeplessness An important gene associated with Short Sleeper is BHLHE41 (Basic Helix-Loop-Helix Family Member E41). The drugs Benzocaine and tannic acid have been mentioned in the context of this disorder.

Related Diseases for Short Sleeper

Symptoms & Phenotypes for Short Sleeper

Symptoms via clinical synopsis from OMIM:

57
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
individuals require less sleep in a 24-hour period compared to age-matched controls


Clinical features from OMIM:

612975

UMLS symptoms related to Short Sleeper:


sleeplessness

Drugs & Therapeutics for Short Sleeper

Drugs for Short Sleeper (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 1 1994-09-7, 94-09-7 2337
2 tannic acid Approved, Nutraceutical Phase 1
3 Anesthetics Phase 1
4 Anesthetics, Local Phase 1
5 Central Nervous System Depressants Phase 1
6 Peripheral Nervous System Agents Phase 1
7
Melatonin Approved, Nutraceutical, Vet_approved 73-31-4 896
8 Glucagon-Like Peptide 1 Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Chronic Moderate Sleep Restriction in Older Adults Active, not recruiting NCT01642719 Phase 1
2 The Relationship Between Sleep and Glucose Tolerance in Prediabetes: the Role of GLP-1 in Short Sleepers Completed NCT02229487 Not Applicable
3 Circadian Regulation of Sleep in Habitual Short Sleepers and Long Sleepers Completed NCT00001546
4 The Sleep Lengthening and Metabolic Health, Body Composition, Energy Balance and Cardiovascular Risk Study Completed NCT02787577 Not Applicable
5 Enhancing Sleep Slow Waves Using External Stimuli Enrolling by invitation NCT03323814

Search NIH Clinical Center for Short Sleeper

Genetic Tests for Short Sleeper

Genetic tests related to Short Sleeper:

# Genetic test Affiliating Genes
1 Short-Sleeper 29 BHLHE41

Anatomical Context for Short Sleeper

Publications for Short Sleeper

Articles related to Short Sleeper:

# Title Authors Year
1
Mammalian Reverse Genetics without Crossing Reveals Nr3a as a Short-Sleeper Gene. ( 26774482 )
2016
2
Development of a short sleeper phenotype after third ventriculostomy in a patient with ependymal cysts. ( 24533006 )
2014
3
Sleep duration and central obesity in women - differences between short sleepers and long sleepers. ( 22841029 )
2012

Variations for Short Sleeper

Expression for Short Sleeper

Search GEO for disease gene expression data for Short Sleeper.

Pathways for Short Sleeper

GO Terms for Short Sleeper

Sources for Short Sleeper

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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