KEGG   DISEASE: Familial natural short sleep
Entry
H02849                      Disease                                
Name
Familial natural short sleep
Description
Familial natural short sleep (FNSS) is a rare genetic trait characterized by the ability to sleep 4-6.5 hours per night without experiencing daytime sleepiness or significant impairments. Mutations in BHLHE41 and ADRB1 have been identified in this condition.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 07 Sleep-wake disorders
  Circadian rhythm sleep-wake disorders
   7A6Z  Circadian rhythm sleep-wake disorders, unspecified
    H02849  Familial natural short sleep
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06544  Neuroactive ligand signaling
   H02849  Familial natural short sleep
Pathway
hsa04082  Neuroactive ligand signaling
Network
nt06544 Neuroactive ligand signaling
Gene
(FNSS1) BHLHE41 [HSA:79365] [KO:K03730]
(FNSS2) ADRB1 [HSA:153] [KO:K04141]
Other DBs
ICD-11: 7A6Z
MeSH: D012893
OMIM: 612975 618591
Reference
PMID:31400754
  Authors
Ashbrook LH, Krystal AD, Fu YH, Ptacek LJ
  Title
Genetics of the human circadian clock and sleep homeostat.
  Journal
Neuropsychopharmacology 45:45-54 (2020)
DOI:10.1038/s41386-019-0476-7
Reference
PMID:25083013 (FNSS1)
  Authors
Pellegrino R, Kavakli IH, Goel N, Cardinale CJ, Dinges DF, Kuna ST, Maislin G, Van Dongen HP, Tufik S, Hogenesch JB, Hakonarson H, Pack AI
  Title
A novel BHLHE41 variant is associated with short sleep and resistance to sleep deprivation in humans.
  Journal
Sleep 37:1327-36 (2014)
DOI:10.5665/sleep.3924
Reference
PMID:31473062 (FNSS2)
  Authors
Shi G, Xing L, Wu D, Bhattacharyya BJ, Jones CR, McMahon T, Chong SYC, Chen JA, Coppola G, Geschwind D, Krystal A, Ptacek LJ, Fu YH
  Title
A Rare Mutation of beta(1)-Adrenergic Receptor Affects Sleep/Wake Behaviors.
  Journal
Neuron 103:1044-1055.e7 (2019)
DOI:10.1016/j.neuron.2019.07.026
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