Details of Disease

General Information of Disease (ID: DISH7Y6Q)

Disease Name	Narcolepsy type 1
Synonyms	narcoleptic syndrome; narcolepsy-cataplexy syndrome; Gelineau syndrome; narcolepsy type 1; narcolepsy with cataplexy; Gelineau's syndrome; Gelineau disease; Glineau disease
Disease Class	7A20: Narcolepsy
Definition	A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).\|This term is also known as narcolepsy type 1 and is different from the hereditary form, narcolepsy 1 (MONDO:0008062).
Disease Hierarchy	DISLCNLI: Narcolepsy DIS6ZC3X: Brain disease DISH7Y6Q: Narcolepsy type 1
ICD Code	ICD-11 ICD-11: 7A20.0
Disease Identifiers	MONDO ID MONDO_0016158 MESH ID D009290 UMLS CUI C0751362 MedGen ID 199638 Orphanet ID 2073 SNOMED CT ID 193042000

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 3 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Gamma Hydroxybutyric Acid	DMGBKVD	Approved	Small molecular drug	[1]
Sodium oxybate	DMBOV5P	Approved	Small molecule	[2]
Viloxazine	DMPUIWD	Approved	Small molecular drug	[3]
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This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
TAK-861	DMLGEQ7	Phase 2	Small molecule	[4]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 11 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CPT1B	TTDL0NY	Limited	Biomarker	[5]
HCRT	TTU5HJP	Limited	Biomarker	[6]
SLC18A3	TTV8KWS	moderate	Altered Expression	[7]
SLC5A7	TTRV7W3	moderate	Altered Expression	[7]
HLA-DRB1	TTUXSTW	Strong	Genetic Variation	[8]
MOG	TTQAFX5	Strong	SusceptibilityMutation	[9]
P2RY11	TTYXPCO	Strong	Genetic Variation	[10]
CTSH	TT3G406	Definitive	SusceptibilityMutation	[11]
HCRTR2	TT9N02I	Definitive	Biomarker	[12]
TNFSF4	TTBW580	Definitive	SusceptibilityMutation	[11]
TRH	TT2Z39D	Definitive	Biomarker	[13]
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⏷ Show the Full List of 11 DTT(s)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CHKB	DEHWR6V	Limited	Biomarker	[5]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FRS2	OTDMD800	moderate	Altered Expression	[14]
PSG5	OTHTU98X	moderate	Biomarker	[15]
REM1	OTUXL0HC	moderate	Genetic Variation	[16]
SNTA1	OTUICTGZ	moderate	Altered Expression	[14]
PENK	OT8P3HMP	Definitive	Biomarker	[12]
SOCS2	OTBPNKJQ	Definitive	Biomarker	[12]
TAC1	OTM842YW	Definitive	Biomarker	[12]
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⏷ Show the Full List of 7 DOT(s)

References

1	A review of tolerability and abuse liability of gamma-hydroxybutyric acid for insomnia in patients with schizophrenia. Clin Ther. 2009 Jun;31 Pt 1:1360-73.
2	Sodium oxybate FDA Label
3	Viloxazine FDA Label
4	ClinicalTrials.gov (NCT05687903) A Randomized, Double-blind, Placebo-Controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-861 for the Treatment of Narcolepsy With Cataplexy (Narcolepsy Type 1). U.S.National Institutes of Health.
5	Polymorphism located between CPT1B and CHKB, and HLA-DRB11501-DQB10602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia).PLoS One. 2009;4(4):e5394. doi: 10.1371/journal.pone.0005394. Epub 2009 Apr 30.
6	The olfactory bulb: A link between environmental agents and narcolepsy.Med Hypotheses. 2019 May;126:66-68. doi: 10.1016/j.mehy.2019.03.017. Epub 2019 Mar 22.
7	Narcoleptic orexin receptor knockout mice express enhanced cholinergic properties in laterodorsal tegmental neurons.Eur J Neurosci. 2010 Jul;32(1):130-42. doi: 10.1111/j.1460-9568.2010.07259.x. Epub 2010 Jun 22.
8	Polymorphism located in TCRA locus confers susceptibility to essential hypersomnia with HLA-DRB11501-DQB10602 haplotype.J Hum Genet. 2010 Jan;55(1):63-5. doi: 10.1038/jhg.2009.118. Epub 2009 Nov 20.
9	A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy. Am J Hum Genet. 2011 Sep 9;89(3):474-9. doi: 10.1016/j.ajhg.2011.08.007.
10	Rare missense mutations in P2RY11 in narcolepsy with cataplexy.Brain. 2017 Jun 1;140(6):1657-1668. doi: 10.1093/brain/awx093.
11	ImmunoChip study implicates antigen presentation to T cells in narcolepsy.PLoS Genet. 2013;9(2):e1003270. doi: 10.1371/journal.pgen.1003270. Epub 2013 Feb 14.
12	Reduced expression of TAC1, PENK and SOCS2 in Hcrtr-2 mutated narcoleptic dog brain.BMC Neurosci. 2007 May 23;8:34. doi: 10.1186/1471-2202-8-34.
13	Inhibition of the binding and the behavioral effects of thyrotropin-releasing hormone (TRH) by the triazolobenzodiazepines.Pharmacol Biochem Behav. 1988 May;30(1):73-5. doi: 10.1016/0091-3057(88)90426-1.
14	Prostaglandin D2 Receptor DP1 Antibodies Predict Vaccine-induced and Spontaneous Narcolepsy Type 1: Large-scale Study of Antibody Profiling.EBioMedicine. 2018 Mar;29:47-59. doi: 10.1016/j.ebiom.2018.01.043. Epub 2018 Feb 2.
15	Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study.J Sleep Res. 2013 Oct;22(5):482-95. doi: 10.1111/jsr.12044. Epub 2013 Mar 18.
16	The link between narcolepsy and autonomic cardiovascular dysfunction: a translational perspective.Clin Auton Res. 2018 Dec;28(6):545-555. doi: 10.1007/s10286-017-0473-z. Epub 2017 Oct 10.