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NRCLP1
MCID: NRC009
MIFTS: 54

Narcolepsy 1 (NRCLP1)

Categories: Eye diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Narcolepsy 1

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MalaCards integrated aliases for Narcolepsy 1:

Name: Narcolepsy 1 57 73 28 12 5 71
Narcolepsy-Cataplexy Syndrome 73 71
Narcoleptic Syndrome 1 57 73
Narcolepsy-Cataplexy 58 75
Narcolepsy, Type 1 38 33
Gelineau Disease 58 75
Nrclp1 57 73
Narcolepsy with Cataplexy and/or Hypocretin Deficiency 33
Gélineau's Syndrome 33
Narcolepsy Type 1 58
Cataplexy 33

Characteristics:


Inheritance:

Autosomal dominant 57

Prevelance:

Narcolepsy Type 1: 1-5/10000 (Europe, Norway, Finland, China, United Kingdom) 1-9/1000000 (United States) 58

Age Of Onset:

Narcolepsy Type 1: Adolescent,Adult,Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
genetic heterogeneity
onset usually in second decade of life, although earlier and later onset have been reported
prevalence of approximately 1 in 2000 individuals
mutation in the hcrt gene has been identified in 1 patient


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Muscle diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 32
ICD11: 33
Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 161400
OMIM Phenotypic Series 57 PS161400
MeSH 43 D009290
MESH via Orphanet 44 D009290
ICD10 via Orphanet 32 G47.4
UMLS via Orphanet 72 C0027404 C0751362
Orphanet 58 ORPHA2073
ICD11 33 1851015159
UMLS 71 C0751362 C1834372
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Summaries for Narcolepsy 1

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OMIM®: 57 Adie (1926) first delineated narcolepsy as a separate and specific entity. It is a sleep disorder characterized by attacks of disabling daytime drowsiness and low alertness. The normal physiologic components of rapid eye movement (REM) sleep, dreaming and loss of muscle tone, are separated and also occur while the subject is awake, resulting in half-sleep dreams and episodes of skeletal muscle paralysis and atonia (cataplexy and sleep paralysis). Unlike normal sleep, that of narcolepsy often begins with REM activity and the time taken to fall asleep is shorter than normal. In contrast to animal models, human narcolepsy is not a simple genetic disorder. Most human cases of narcolepsy are sporadic and carry a specific HLA haplotype (Peyron et al., 2000). Familial cases are the exception rather than the rule, and monozygotic twins show only partial concordance (25 to 31%) (Mignot, 1998). (161400) (Updated 08-Dec-2022)

MalaCards based summary: Narcolepsy 1, also known as narcolepsy-cataplexy syndrome, is related to niemann-pick disease, type c1 and hypersomnia, and has symptoms including excessive daytime somnolence and hallucinations, hypnagogic. An important gene associated with Narcolepsy 1 is HCRT (Hypocretin Neuropeptide Precursor), and among its related pathways/superpathways are Ebola virus infection in host and CTL Mediated Apoptosis. The drugs Dopamine and Sodium oxybate have been mentioned in the context of this disorder. Affiliated tissues include eye, skeletal muscle and hypothalamus, and related phenotypes are hallucinations and cataplexy

UniProtKB/Swiss-Prot: 73 Neurological disabling sleep disorder, characterized by excessive daytime sleepiness, sleep fragmentation, symptoms of abnormal rapid- eye-movement (REM) sleep, cataplexy, hypnagogic hallucinations, and sleep paralysis. Cataplexy is a sudden loss of muscle tone triggered by emotions, which is the most valuable clinical feature used to diagnose narcolepsy. Human narcolepsy is primarily a sporadically occurring disorder but familial clustering has been observed.

Orphanet: 58 A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and cataplexy (sudden loss of muscle tone while awake, often triggered by pleasant emotions).

Wikipedia: 75 Narcolepsy is a long-term neurological disorder that involves a decreased ability to regulate sleep-wake... more...
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Related Diseases for Narcolepsy 1

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Diseases in the Narcolepsy family:

Narcolepsy 1 Narcolepsy 2
Narcolepsy 3 Narcolepsy 4
Narcolepsy 5 Narcolepsy 6
Narcolepsy 7

Diseases related to Narcolepsy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 272)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease, type c1 31.5 NPC2 NPC1 HCRT
2 hypersomnia 30.9 HLA-DQB1 HCRT
3 idiopathic hypersomnia 30.8 HLA-DQB1 HCRT
4 narcolepsy 2 30.5 ZNF365 HLA-DRB1 HLA-DQB1 HCRT
5 acute disseminated encephalomyelitis 30.3 MOG HCRT
6 transverse myelitis 30.2 MOG HLA-DRB1
7 demyelinating disease 30.1 MOG HLA-DRB1 HCRT
8 withdrawal disorder 30.0 HTR1A HCRT
9 guillain-barre syndrome 29.9 MOG HLA-DRB1 HLA-DQB1 HCRT
10 recurrent hypersomnia 29.7 P2RY11 HLA-DQB1 HCRT
11 niemann-pick disease, type b 29.5 NPC2 NPC1
12 common variable immunodeficiency 29.5 TNFSF4 HLA-DRB1 HLA-DQB1
13 sleep disorder 29.5 MOG HTR1A HLA-DQB1 HCRT
14 niemann-pick disease, type a 29.5 NPC2 NPC1
15 narcolepsy 28.9 ZNF365 TNFSF4 P2RY11 MOG HLA-DRB1 HLA-DQB1
16 dystonia 28.9 NPC2 NPC1 HLA-DRB1 HLA-DQB1 HCRT
17 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 11.4
18 narcolepsy 7 11.3
19 autoimmune disease 10.3
20 pick disease of brain 10.3
21 niemann-pick disease 10.3
22 periodic limb movement disorder 10.2 HLA-DQB1 HCRT
23 pediatric multiple sclerosis 10.2 HLA-DRB1 HLA-DQB1
24 chronic beryllium disease 10.2 HLA-DRB1 HLA-DQB1
25 osteonecrosis of the jaw 10.2 HLA-DRB1 HLA-DQB1
26 persian gulf syndrome 10.2 HLA-DRB1 HLA-DQB1
27 podoconiosis 10.2 HLA-DRB1 HLA-DQB1
28 focal epithelial hyperplasia 10.2 HLA-DRB1 HLA-DQB1
29 pityriasis rosea 10.2 HLA-DRB1 HLA-DQB1
30 sarcoid meningitis 10.2 MOG HLA-DQB1
31 trachoma 10.2 HLA-DRB1 HLA-DQB1
32 cytomegalovirus retinitis 10.2 HLA-DRB1 HLA-DQB1
33 hypotonia 10.2
34 bulimia nervosa 10.2
35 conn's syndrome 10.2
36 tremor 10.2
37 benign idiopathic neonatal seizures 10.2
38 body mass index quantitative trait locus 1 10.2
39 autoimmune disease of peripheral nervous system 10.1 MOG HLA-DRB1
40 panuveitis 10.1 HLA-DRB1 HLA-DQB1
41 anterograde amnesia 10.1 HTR1A HCRT
42 adjustment disorder 10.1 HTR1A HCRT
43 dysthymic disorder 10.1 HTR1A HCRT
44 dermatitis herpetiformis 10.1 HLA-DRB1 HLA-DQB1
45 prader-willi syndrome 10.1
46 movement disease 10.1
47 kleine-levin hibernation syndrome 10.1 P2RY11 HLA-DQB1 HCRT
48 attention deficit-hyperactivity disorder 10.1
49 schizophrenia 10.1
50 dermatitis, atopic 10.1

Graphical network of the top 20 diseases related to Narcolepsy 1:



Diseases related to Narcolepsy 1
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Symptoms & Phenotypes for Narcolepsy 1

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Human phenotypes related to Narcolepsy 1:

58 30 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hallucinations 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000738
2 cataplexy 58 30 Very rare (1%) Very frequent (99-80%)
 HP:0002524
3 transient global amnesia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0010534
4 excessive daytime somnolence 30 Very rare (1%) HP:0001262
5 abnormality of vision 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000504
6 abnormal rapid eye movement sleep 58 30 Very rare (1%) Frequent (79-30%)
 HP:0002494
7 slurred speech 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001350
8 obesity 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001513
9 syncope 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001279
10 narcolepsy 30 Very rare (1%) HP:0030050
11 hypnagogic hallucinations 30 Very rare (1%) HP:0002519
12 sleep paralysis 30 Very rare (1%) HP:0025233
13 sleep disturbance 58 Very frequent (99-80%)
14 abnormality of the eye 58 Frequent (79-30%)
15 excessive daytime sleepiness 58 Very frequent (99-80%)
16 paroxysmal drowsiness 30 HP:0002330
17 hypnopompic hallucinations 30 HP:0006896

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
excessive daytime sleepiness
hypnagogic hallucinations
hypnopompic hallucinations
cataplexy, paroxysmal weakness or paralysis
cataplexy often triggered by strong emotions
more
Laboratory Abnormalities:
hla-dqw6 association (dqb1*0602)
decreased levels of csf hypocretin (hcrt, )

Growth Weight:
rapid weight gain may occur

Clinical features from OMIM®:

161400 (Updated 08-Dec-2022)

UMLS symptoms related to Narcolepsy 1:


excessive daytime somnolence; hallucinations, hypnagogic

MGI Mouse Phenotypes related to Narcolepsy 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.56 HCRT HLA-DQB1 HTR1A MOG NPC1 NPC2
2 respiratory system MP:0005388 9.1 CTSH HCRT HLA-DQB1 NPC1 NPC2 SCG5
Sources

Drugs & Therapeutics for Narcolepsy 1

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Drugs for Narcolepsy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
2
Sodium oxybate Approved Phase 4 502-85-2 23663870
3 Anesthetics, Intravenous Phase 4
4 Anesthetics, General Phase 4
5 Anesthetics Phase 4
6
Sodium citrate Approved, Investigational Phase 3 68-04-2 23431961
7
Modafinil Approved, Investigational Phase 3 68693-11-8 4236
8
Esreboxetine Approved, Experimental, Investigational Phase 3 98769-81-4, 71620-89-8, 98819-76-2 65856
9
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
10 Central Nervous System Stimulants Phase 3
11 Citrate Phase 3
12 Pharmaceutical Solutions Phase 3
13 Neurotransmitter Agents Phase 3
14 Adrenergic Agents Phase 3
15 Psychotropic Drugs Phase 3
16 Antidepressive Agents Phase 3
17
Flumazenil Approved Phase 1, Phase 2 78755-81-4 3373
18
Histamine Approved, Investigational Phase 2 51-45-6 774
19
Dextroamphetamine Approved, Illicit, Investigational Phase 2 51-64-9, 300-62-9 5826 3007
20
Clarithromycin Approved Phase 2 81103-11-9 84029
21
Mazindol Approved, Investigational Phase 2 22232-71-9 4020
22 Antidotes Phase 1, Phase 2
23 GABA Modulators Phase 1, Phase 2
24 Protective Agents Phase 1, Phase 2
25
Histamine phosphate Phase 2 51-74-1 134614
26 Adderall Phase 2
27 Sympathomimetics Phase 2
28 Antibiotics, Antitubercular Phase 2
29 Anti-Bacterial Agents Phase 2
30 Anti-Infective Agents Phase 2
31 Cytochrome P-450 Enzyme Inhibitors Phase 2
32 Cytochrome P-450 CYP3A Inhibitors Phase 2
33 Dopamine Uptake Inhibitors Phase 2
34 Dopamine Agents Phase 2

Interventional clinical trials:

(show all 41)
# Name Status NCT ID Phase Drugs
1 Does Xyrem Influence Brain Dopamine in Patients With Narcolepsy? A PET Imaging Investigation Completed NCT02637076 Phase 4 Xyrem
2 A Randomized, Double Blind Study Comparing Pitolisant (BF2.649) to Placebo in Two Parallel Groups on the Weekly Frequency of Cataplexy Attacks and Excessive Daytime Sleepiness in Narcoleptic Patients With Cataplexy. Completed NCT01800045 Phase 3 Pitolisant;Placebo
3 A Double-blind, Randomized, Placebo Controlled, Two Arm Multi-center Study to Assess the Efficacy and Safety of a Once Nightly Formulation of Sodium Oxybate for Extended-Release Oral Suspension (FT218) for the Treatment of Excessive Daytime Sleepiness and Cataplexy in Subjects With Narcolepsy Completed NCT02720744 Phase 3 FT218;Placebo
4 A Double-Blind, Placebo-Controlled, Randomized-Withdrawal, Multicenter Study of the Efficacy and Safety of JZP-258 in Subjects With Narcolepsy With Cataplexy Completed NCT03030599 Phase 3 JZP-258
5 Prospective, Randomized, Double-blind Study, Parallel-group, Multi-center Trial Assessing the Effects of Escalating Doses of BF2.649 and BF2.649 Add on Modafinil on Cataplexy in Patients With Narcolepsy Completed NCT01067235 Phase 3 BF2.649;BF2.649 add on Modafinil
6 A Multicenter Study of the Efficacy and Safety of Xyrem With an Open- Label Pharmacokinetic Evaluation and Safety Extension in Pediatric Subjects With Narcolepsy With Cataplexy Completed NCT02221869 Phase 3 Xyrem
7 Prospective, Randomized, Double-blind Study, Placebo-controlled, Parallel-group, Multi-center Trial Assessing the Effects of BF2.649 in Treatment of Excessive Daytime Sleepiness in Narcolepsy Completed NCT01067222 Phase 3 BF2.649;Modafinil;Placebo
8 An Open-label Naturalistic Pragmatic Study to Assess the Long Term Safety of BF2.649 (Pitolisant) in the Treatment of Excessive Daytime Sleepiness (EDS) in Narcolepsy (12 Months Follow-up, Followed by a Prolonged Follow up) Completed NCT01399606 Phase 3 BF2.649
9 A Randomized, Double-Blind, Placebo-Controlled, Multi- Center Study to Assess the Efficacy and Safety of AXS-12 in the Treatment of Cataplexy and Excessive Daytime Sleepiness in Subjects With Narcolepsy Recruiting NCT05059223 Phase 3 AXS-12 (reboxetine);Placebo
10 Double Blind, Multicentre, Randomized, Placebo-controlled Trial to Evaluate Safety and Efficacy of Pitolisant in Children From 6 to Less Than 18 Years With Narcolepsy With/Without Cataplexy, Followed by a Prolonged Open-label Period Active, not recruiting NCT02611687 Phase 3 pitolisant;Placebo
11 Open Label Study of Safety/Tolerability of Once Nightly FT218 for the Treatment of Excessive Daytime Sleepiness and Cataplexy in Narcolepsy Patients That Have and Have Not Been Previously Maintained on Twice-nightly Sodium Oxybate IR Active, not recruiting NCT04451668 Phase 3 FT218
12 A Study to Assess the Long-term Efficacy and Safety of AXS-12 in the Treatment of Cataplexy and Excessive Daytime Sleepiness in Subjects With Narcolepsy Enrolling by invitation NCT05113745 Phase 3 AXS-12 (reboxetine);Placebo
13 A Multi-center, Randomized, Double-blind, Placebo-controlled, 3-Week Crossover Study to Assess the Efficacy and Safety of AXS-12 in Subjects With Cataplexy and Excessive Daytime Sleepiness in Narcolepsy Completed NCT03881852 Phase 2 AXS-12 (Reboxetine);Placebo
14 A Four-week, Double-blind, Placebo-controlled, Randomized, Multicenter, Parallel-group Study of the Safety and Efficacy of NLS-2 (Mazindol Extended Release) in Adults for the Treatment of Narcolepsy Completed NCT04923594 Phase 2 mazindol extended release;Placebo
15 A Randomized, Placebo-Controlled, Double-blind, Fixed-Dose, Multiple Cohort, Multiple Crossover, Dose-Finding Study of Oral BTD-001 in Adults With Idiopathic Hypersomnia (IH) or Narcolepsy Type 2 Completed NCT02512588 Phase 2 BTD-001;Placebo
16 A Ten Subject, Double-Blind, Placebo-Controlled Trial of Single Day Dosing of Sublingual Flumazenil in Individuals With Primary Hypersomnia or Excessively Long Total Sleep Time and Excess Endogenous Potentiation of GABA-A Receptors Completed NCT01183312 Phase 1, Phase 2 Flumazenil
17 A Phase 2, Double-blind, Placebo-controlled, Parallel-group, Multicenter Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of 2 mg and 4 mg SUVN-G3031 Compared to Placebo in Patients With Narcolepsy With and Without Cataplexy Recruiting NCT04072380 Phase 2 SUVN-G3031;Placebo
18 Informing Treatment Decisions in the Central Disorders of Hypersomnolence: A Pragmatic Clinical Trial of Modafinil Versus Amphetamines Recruiting NCT03772314 Phase 2 Modafinil;Amphetamine-Dextroamphetamine
19 Antibiotic-mediated Improvements in Vigilance: Mechanisms of Action of Clarithromycin in Hypersomnia Syndromes Recruiting NCT04026958 Phase 2 Clarithromycin;Placebo
20 A 6-Month Multicenter, Open-Labelled Extension of the Clinical Trial NLS-1021 in Narcoleptic Patients With and Without Cataplexy Enrolling by invitation NCT05055024 Phase 2 Mazindol
21 A Randomized, Double-Blind, Placebo-Controlled, Multiple Rising Oral Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of TAK-994 in Patients With Narcolepsy With or Without Cataplexy (Narcolepsy Type 1 or Narcolepsy Type 2) Terminated NCT04096560 Phase 2 TAK-994;Placebo
22 A Dose-Blind Extension Study With Double-blind, Placebo-Controlled, Randomized Withdrawal Period to Evaluate the Safety and Explore the Pharmacokinetics and Pharmacodynamics of TAK-994 in Adults With Narcolepsy With Cataplexy (Narcolepsy Type 1) Terminated NCT04820842 Phase 2 TAK-994;Placebo
23 A Double-blind, Placebo-controlled, Randomized, 3-period, 3-treatment Crossover Study to Evaluate the Effect of Multiple Oral Dose Administration of SEP-363856 in Male and Female Adult Subjects With Narcolepsy-cataplexy Completed NCT05015673 Phase 1 SEP363856;Placebo
24 Single Center, Therapeutic Exploratory Clinical Trial to Evaluate the Safety of Sodium Oxybate (Xyrem) 500 mg/mL Oral Solution on Potential Endocrine Changes at Currently Labeled Therapeutic Dose Regimens (4.5 - 9 g/Day Divided Into Two Equal Doses) During 12 Weeks of Treatment of Cataplexy in Adult Patients With Narcolepsy. Completed NCT00345800 Phase 1 Sodium Oxybate (Xyrem)
25 Phase 1, Randomized, Double-Blind, Placebo-Controlled, Single-Dose Escalation Study to Assess the Tolerability and Pharmacokinetics of APD916 Administered to Healthy Adult Subjects Completed NCT01093508 Phase 1 APD916
26 Microglial Activation in Narcolepsy Type 1 and Kleine-Levin Syndrome: Positron Emission Tomography (PET) Study in [18F] DPA-714 Unknown status NCT03754348
27 Exploration of the Reward System by Functional MRI in Narco-cataplexy Patients With and Without REM Sleep Behavior Disorder Unknown status NCT03425214
28 The Role of the Circadian System in Neurological Sleep-wake Disorders: Assessment of Circadian and Homeostatic Sleep-wake Regulation and Vigilance With a Poly-nap Protocol Completed NCT03356938
29 A Study to Assess the Frequency and Characteristics of Wake and Sleep State Transitions Over Multiple Nights in Subjects With Narcolepsy Type 1 Compared With Healthy Subjects Using a Portable Electroencephalogram Device Completed NCT04445129
30 Mind-Body Approach to Improve Health-Related Quality of Life for People With Narcolepsy Completed NCT04306952
31 A Placebo Control, Double Blind, Cross Over Study of Modafinil in Patients With Narcolepsy Completed NCT00174174 Modafinil
32 Cardiovascular Variability and Heart Rate Arousal Response in Idiopathic Hypersomnia Completed NCT02913651
33 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
34 Meditation-Relaxation (MR Therapy) for Sleep Paralysis: A Pilot Study in Patients With Narcolepsy Recruiting NCT04483310
35 Effectiveness of Group Psychotherapy in Patients With Narcolepsy Type 1 Recruiting NCT05314556
36 Evaluation of the Effectiveness of a Physical Activity Program on the Severity of Narcolepsy Recruiting NCT05460052
37 Clinical and Neurophysiological Characteristics of Narcolepsy in Russia Basing on Clinical, Polysomnographic and Genome-wide Association Analyses of Narcolepsy With Cataplexy: a European Narcolepsy Network Study of 2013 Active, not recruiting NCT05375890
38 Multiple Reaction Monitoring (MRM) Versus I 125 Radioimmunoassay (RIA) for the Quantification of Orexin-A/Hypocretin-1 Levels in Cerebrospinal Fluid: a Prospective Diagnostic Validation Study in Patients With Hypersomnolence Not yet recruiting NCT05615584
39 An Open Label Expanded Access Program Intended to Provide Treatment With HBS-101 (Pitolisant) to Adult Patients in the U.S. With Excessive Daytime Sleepiness Associated With Narcolepsy With or Without Cataplexy No longer available NCT03433131 Pitolisant
40 'A Profile of Physical Performance Variables in an Out-patient Adult Population With Narcolepsy' Suspended NCT04419792
41 Transcranial Direct Current Stimulation Therapy for Central Hypersomnia Without Cataplexy Terminated NCT03198156

Search NIH Clinical Center for Narcolepsy 1

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Genetic Tests for Narcolepsy 1

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Genetic tests related to Narcolepsy 1:

# Genetic test Affiliating Genes
1 Narcolepsy 1 28 HCRT
Sources

Anatomical Context for Narcolepsy 1

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Organs/tissues related to Narcolepsy 1:

MalaCards : Eye, Skeletal Muscle, Hypothalamus, Brain, Heart, Amygdala, Prefrontal Cortex
Sources

Publications for Narcolepsy 1

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Articles related to Narcolepsy 1:

(show top 50) (show all 2239)
# Title Authors PMID Year
1
A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. 57 5
10973318 2000
2
Concomitant loss of dynorphin, NARP, and orexin in narcolepsy. 53 62 57
16247044 2005
3
Monozygotic twins concordant for narcolepsy-cataplexy without any detectable abnormality in the hypocretin (orexin) pathway. 53 62 57
15081654 2004
4
A functional autoantibody in narcolepsy. 62 57
15589310 2004
5
Age at onset of narcolepsy in two large populations of patients in France and Quebec. 62 57
11739821 2001
6
Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups. 62 57
11179016 2001
7
The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. 62 57
10458611 1999
8
Genetic studies in narcolepsy, a disorder affecting REM sleep. 62 57
9987919 1999
9
Genetic and familial aspects of narcolepsy. 62 57
9484418 1998
10
HLA DQB1*0602 is associated with cataplexy in 509 narcoleptic patients. 62 57
9456467 1997
11
Pharmacological aspects of human and canine narcolepsy. 62 57
9185233 1997
12
Narcolepsy-cataplexy in Israeli Jews is associated exclusively with the HLA DR2 haplotype. A study at the serological and genomic level. 62 57
2896649 1988
13
Genetic study of narcoleptic syndrome. 62 57
712757 1978
14
Hereditary cataplexy. 62 57
6062995 1967
15
T cells in patients with narcolepsy target self-antigens of hypocretin neurons. 57
30232458 2018
16
Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. 57
20711174 2010
17
Normalization of hypocretin-1 in narcolepsy after intravenous immunoglobulin treatment. 57
19841387 2009
18
Narp immunostaining of human hypocretin (orexin) neurons: loss in narcolepsy. 57
16135770 2005
19
CSF hypocretin-1 (orexin-A) levels in childhood narcolepsy and neurologic disorders. 57
15623725 2004
20
A monozygotic twin pair discordant for narcolepsy and CSF hypocretin-1. 57
15184641 2004
21
Crystal structure of HLA-DQ0602 that protects against type 1 diabetes and confers strong susceptibility to narcolepsy. 57
14769912 2004
22
Normal plasma levels of orexin A (hypocretin-1) in narcoleptic patients. 57
11425946 2001
23
Reduced number of hypocretin neurons in human narcolepsy. 57
11055430 2000
24
Hypocretin (orexin) deficiency in human narcolepsy. 57
10615891 2000
25
Let sleeping dogs lie? 57
10471483 1999
26
Narcolepsy in orexin knockout mice: molecular genetics of sleep regulation. 57
10481909 1999
27
Narcolepsy: a key role for hypocretins (orexins) 57
10481905 1999
28
The hypocretins: hypothalamus-specific peptides with neuroexcitatory activity. 57
9419374 1998
29
Autonomic nervous system function in narcolepsy. 57
10607117 1994
30
DQ (rather than DR) gene marks susceptibility to narcolepsy. 57
1349071 1992
31
Genetic linkage of autosomal recessive canine narcolepsy with a mu immunoglobulin heavy-chain switch-like segment. 57
1673032 1991
32
Genetic heterogeneity in narcolepsy. 57
1969083 1990
33
Familial patterns of narcolepsy. 57
2574313 1989
34
Restriction fragment length polymorphism in canine narcolepsy. 57
2563354 1989
35
HLA and narcolepsy in a German population. 57
3641479 1986
36
Human histocompatibility leukocyte antigen (HLA) haplotype frequencies estimated from the data on HLA class I, II, and III antigens in 111 Japanese narcoleptics. 57
3865934 1985
37
Genetic markers in narcolepsy. 57
6150235 1984
38
HLA antigens in Japanese patients with narcolepsy. All the patients were DR2 positive. 57
6597978 1984
39
Canine model of narcolepsy: genetic and developmental determinants. 57
7199479 1982
40
Genetic factors in canine narcolepsy. 57
574310 1979
41
The inheritance of diurnal sleepiness as measured by pupillography. 57
5425102 1970
42
The pupillogram and narcolepsy. A method to measure decreased levels of wakefulness. 57
5387594 1969
43
Hypocretin ligand deficiency in narcolepsy: recent basic and clinical insights. 53 62
20425033 2010
44
Advances in narcolepsy. 53 62
20451031 2010
45
Narcolepsy: autoimmunity, effector T cell activation due to infection, or T cell independent, major histocompatibility complex class II induced neuronal loss? 53 62
20403960 2010
46
Activation of the basal forebrain by the orexin/hypocretin neurones. 53 62
19723027 2010
47
Reduced amygdala activity during aversive conditioning in human narcolepsy. 53 62
20373351 2010
48
Hypocretin/orexin and narcolepsy: new basic and clinical insights. 53 62
19555382 2010
49
Rapid eye movement sleep behaviour disorder in patients with narcolepsy is associated with hypocretin-1 deficiency. 53 62
20129934 2010
50
Body mass index-independent metabolic alterations in narcolepsy with cataplexy. 53 62
19928388 2009
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Variations for Narcolepsy 1

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ClinVar genetic disease variations for Narcolepsy 1:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HCRT NM_001524.1(HCRT):c.47T>G (p.Leu16Arg) SNV Pathogenic
 7303 rs104894574 GRCh37: 17:40336521-40336521
GRCh38: 17:42184503-42184503

UniProtKB/Swiss-Prot genetic disease variations for Narcolepsy 1:

73
# Symbol AA change Variation ID SNP ID
1 HCRT p.Leu16Arg VAR_011633 rs104894574

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Expression for Narcolepsy 1

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Search GEO for disease gene expression data for Narcolepsy 1.
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Pathways for Narcolepsy 1

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Pathways related to Narcolepsy 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Ebola virus infection in host 74
11.03 NPC2 NPC1 HLA-DRB1 HLA-DQB1
2
CTL Mediated Apoptosis 64
10.84 HLA-DRB1 HLA-DQB1
3
Degradation pathway of sphingolipids, including diseases 74
10.3 NPC2 NPC1
4
Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) 22
Show member pathways
 10.1 NPC2 NPC1
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GO Terms for Narcolepsy 1

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Cellular components related to Narcolepsy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.03 TNFSF4 P2RY11 NPC1 HTR1A HLA-DRB1
2 plasma membrane GO:0005887 10.03 TNFSF4 P2RY11 NPC1 HTR1A HLA-DRB1
3 MHC class II protein complex GO:0042613 9.26 HLA-DRB1 HLA-DQB1
4 lysosome GO:0005764 9.23 NPC2 NPC1 HLA-DRB1 HLA-DQB1 CTSH

Biological processes related to Narcolepsy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T cell receptor signaling pathway GO:0050852 9.83 MOG HLA-DRB1 HLA-DQB1
2 cholesterol transport GO:0030301 9.78 NPC2 NPC1
3 sterol transport GO:0015918 9.76 NPC2 NPC1
4 intracellular cholesterol transport GO:0032367 9.67 NPC2 NPC1
5 positive regulation of memory T cell differentiation GO:0043382 9.62 TNFSF4 HLA-DRB1
6 peptide antigen assembly with MHC class II protein complex GO:0002503 9.58 HLA-DRB1 HLA-DQB1
7 immunoglobulin production involved in immunoglobulin-mediated immune response GO:0002381 9.26 HLA-DRB1 HLA-DQB1
8 regulation of hormone secretion GO:0046883 9.26 SCG5 HTR1A
9 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.16 HLA-DRB1 HLA-DQB1
10 antigen processing and presentation GO:0019882 8.92 HLA-DRB1 HLA-DQB1 CTSH

Molecular functions related to Narcolepsy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sterol binding GO:0032934 9.26 NPC2 NPC1
2 MHC class II receptor activity GO:0032395 8.8 HLA-DRB1 HLA-DQB1
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Sources for Narcolepsy 1

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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