NRCLP1
MCID: NRC009
MIFTS: 29

Narcolepsy 1 (NRCLP1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Narcolepsy 1

Aliases & Descriptions for Narcolepsy 1:

Name: Narcolepsy 1 54 24 66 29 13 69
Narcolepsy-Cataplexy Syndrome 66 69
Narcoleptic Syndrome 1 66
Nrclp1 66

Characteristics:

HPO:

32
narcolepsy 1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 161400
MeSH 42 D009290

Summaries for Narcolepsy 1

OMIM : 54 Adie (1926) first delineated narcolepsy as a separate and specific entity. It is a sleep disorder characterized by... (161400) more...

MalaCards based summary : Narcolepsy 1, also known as narcolepsy-cataplexy syndrome, is related to narcolepsy, and has symptoms including excessive daytime sleepiness, cataplexy and narcolepsy. An important gene associated with Narcolepsy 1 is HCRT (Hypocretin Neuropeptide Precursor). The drugs Sodium oxybate and Armodafinil have been mentioned in the context of this disorder. Affiliated tissues include eye and skeletal muscle.

UniProtKB/Swiss-Prot : 66 Narcolepsy 1: 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.

Related Diseases for Narcolepsy 1

Diseases in the Narcolepsy family:

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

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

id Related Disease Score Top Affiliating Genes
1 narcolepsy 9.6

Symptoms & Phenotypes for Narcolepsy 1

Symptoms by clinical synopsis from OMIM:

161400

Clinical features from OMIM:

161400

Human phenotypes related to Narcolepsy 1:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 excessive daytime sleepiness 32 HP:0002189
2 cataplexy 32 HP:0002524
3 narcolepsy 32 HP:0030050
4 paroxysmal drowsiness 32 HP:0002330
5 abnormal rapid eye movement sleep 32 HP:0002494
6 hypnagogic hallucinations 32 HP:0002519
7 hypnopompic hallucinations 32 HP:0006896

UMLS symptoms related to Narcolepsy 1:


hallucinations, hypnagogic, excessive daytime somnolence

Drugs & Therapeutics for Narcolepsy 1

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

(show top 50) (show all 88)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium oxybate Approved Phase 4,Phase 3,Phase 2,Phase 1 502-85-2 5360545
2
Armodafinil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1 112111-43-0
3
Modafinil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1 68693-11-8 4236
4
Dopamine Approved Phase 4,Phase 1,Phase 2 51-61-6, 62-31-7 681
5
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
6
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
7
Rasagiline Approved Phase 4 136236-51-6 3052776
8 Adjuvants, Anesthesia Phase 4,Phase 3,Phase 2,Phase 1
9 Anesthetics Phase 4,Phase 3,Phase 2,Phase 1
10 Anesthetics, General Phase 4,Phase 3,Phase 2,Phase 1
11 Anesthetics, Intravenous Phase 4,Phase 3,Phase 2,Phase 1
12 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
13 Pharmaceutical Solutions Phase 4,Phase 3
14 Central Nervous System Stimulants Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
15 Cytochrome P-450 CYP3A Inducers Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
16 Wakefulness-Promoting Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
17 Neurotransmitter Agents Phase 4,Phase 1,Phase 2
18 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
19 Dopamine Agents Phase 4,Phase 1,Phase 2
20 Protective Agents Phase 4,Phase 1,Phase 2
21 Analgesics Phase 4,Phase 1,Phase 2
22 Anti-Anxiety Agents Phase 4
23 Anticonvulsants Phase 4
24 Antimanic Agents Phase 4
25 Antiparkinson Agents Phase 4
26 calcium channel blockers Phase 4
27 Calcium, Dietary Phase 4,Phase 1,Phase 2
28 Excitatory Amino Acid Antagonists Phase 4
29 Excitatory Amino Acids Phase 4
30 Psychotropic Drugs Phase 4
31 Tranquilizing Agents Phase 4
32 Antioxidants Phase 4
33 Dopamine agonists Phase 4
34 Neuroprotective Agents Phase 4
35
Histamine Approved, Investigational Phase 3,Phase 2 75614-87-8, 51-45-6 774
36
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
37
Pyridoxal Approved, Nutraceutical Phase 3 66-72-8 1050
38
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
39 Histamine H3 Antagonists Phase 3,Phase 2
40
Histamine Phosphate Phase 3,Phase 2 51-74-1 65513
41 Micronutrients Phase 3
42 Trace Elements Phase 3
43 Vitamin B 6 Phase 3
44 Vitamin B Complex Phase 3
45 Vitamins Phase 3
46 Folate Nutraceutical Phase 3
47 Vitamin B9 Nutraceutical Phase 3
48
Flumazenil Approved Phase 1, Phase 2 78755-81-4 3373
49
Amphetamine Approved, Illicit Phase 1, Phase 2 300-62-9 5826 3007
50
Dextroamphetamine Approved, Illicit Phase 1, Phase 2 51-64-9 5826

Interventional clinical trials:

(show all 50)
id Name Status NCT ID Phase
1 Exploratory Clinical Study to Evaluate Sodium Oxybate (Xyrem) on Potential Endocrine Changes Completed NCT00345800 Phase 4
2 Observational Study to Evaluate Risks of Side Effects, Drug Abuse and Dependence in Patients Who Received Xyrem ® on Prescription Completed NCT00244465 Phase 4
3 An Eight Week, Double-Blind Efficacy Study of Armodafinil Augmentation to Alleviate Fibromyalgia Fatigue Completed NCT00678691 Phase 4
4 SWS And Daytime Functioning in Chronic FatiguE Syndrome (SAFFE) Completed NCT02055898 Phase 4
5 Pain Expectations in Subjects With Osteoarthritis Recruiting NCT02155257 Phase 4
6 Modafinil Treatment for Sleep/Wake Disturbances in Older Adults Terminated NCT00626210 Phase 4
7 Evaluation of the Tolerance and Acceptability of Rasagiline in the Treatment of Early-stage Parkinson's Disease Terminated NCT01048229 Phase 4
8 Efficacy and Safety Study of BF2.649 in the Treatment of Excessive Daytime Sleepiness in Narcolepsy Completed NCT01067222 Phase 3
9 PROVIGIL® (Modafinil) Treatment in Children and Adolescents With Excessive Sleepiness Associated With Narcolepsy or Obstructive Sleep Apnea/Hypopnea Syndrome Completed NCT00107848 Phase 3
10 Effects of BF2.649 in the Treatment of Excessive Daytime Sleepiness in Narcolepsy. Completed NCT01638403 Phase 3
11 Extension Study of the Safety and Efficacy of Armodafinil in the Treatment of Patients With Excessive Sleepiness Completed NCT00228553 Phase 3
12 Trial Comparing Effects of Xyrem Taken Orally and Modafinil With Placebo in Treating Daytime Sleepiness in Narcolepsy Completed NCT00066170 Phase 3
13 Safety and Efficacy of Xyrem Oral Solution (Sodium Oxybate) Compared With Placebo in Narcoleptic Patients Completed NCT00049803 Phase 3
14 Safety and Efficacy Study of Armodafinil (CEP-10953) in the Treatment of Excessive Sleepiness Associated With Narcolepsy Completed NCT00078377 Phase 3
15 Assess the Safety and Effectiveness of PROVIGIL Treatment in Children and Adolescents With Excessive Sleepiness Completed NCT00214968 Phase 3
16 Pitolisant to Assess Weekly Frequency of Cataplexy Attacks and EDS in Narcoleptic Patients (HARMONY CTP) Completed NCT01800045 Phase 3
17 Patient Narcoleptic Treated With BF2.649 (Pitolisant) in add-on to Sodium Oxybate (HARMONY IV) Completed NCT01789398 Phase 3
18 Modafinil in Cancer Related Fatigue Completed NCT01440621 Phase 3
19 Sodium Oxybate for Treatment of Excessive Daytime Sleepiness and Cataplexy in Narcolepsy Recruiting NCT02720744 Phase 3
20 A Study Of A Novel Compound For Excessive Daytime Sleepiness Associated With Narcolepsy Completed NCT01006122 Phase 2
21 Flumazenil for the Treatment of Primary Hypersomnia Completed NCT01183312 Phase 1, Phase 2
22 Study to Evaluate the Likeability, Safety, and Abuse Potential of NRP 104 in Adults With Histories of Stimulant Abuse Completed NCT00248092 Phase 1, Phase 2
23 Modafinil as an Adjunctive on Cognitive Functioning in Patients With Schizophrenia Completed NCT00314639 Phase 1, Phase 2
24 Clarithromycin for the Treatment of Hypersomnia Completed NCT01146600 Phase 2
25 Sodium Oxybate in Schizophrenia With Insomnia Completed NCT00594256 Phase 2
26 Safety, Tolerability and Abuse Liability Study of Intravenous NRP104 in Adults With Stimulant Abuse Histories Completed NCT00247572 Phase 2
27 The Effect of Caffeine on the Narcoleptic Patients Recruiting NCT02832336 Phase 1, Phase 2
28 Efficacy and Safety of Pitolisant in Pediatric Narcoleptic Patients With or Without Cataplexy, Double-blind Study Followed by a Prolonged Open-label Period Recruiting NCT02611687 Phase 2
29 Safety and Efficacy of THN102 on Sleepiness in Narcoleptic Patients Recruiting NCT02821715 Phase 2
30 Effectiveness Of The Drug GSK189254 In Treating Patients With Narcolepsy Terminated NCT00366080 Phase 2
31 A Phase 1, Single Dose Study of JZP-386 to Evaluate Safety, Pharmacokinetics and Pharmacodynamics Completed NCT02215499 Phase 1
32 Study to Evaluate the Pharmacokinetics, Pharmacodynamics, and Safety of Armodafinil in Children and Adolescents With Excessive Sleepiness Associated With Narcolepsy Completed NCT01624480 Phase 1
33 Single-dose Safety Study of APD916 in Healthy Volunteers Completed NCT01093508 Phase 1
34 Effect of Armodafinil on Simulated Driving Recruiting NCT02468856 Phase 1
35 Pilot Study of the Modified Atkins Diet for Tourette Syndrome Terminated NCT00952601 Phase 1
36 Risk of Narcolepsy Associated With Administration of H1N1 Vaccine Completed NCT01394614
37 Body Weight Regulation in Patients With Narcolepsy Completed NCT00283894
38 Modafinil in Multiple Sclerosis Completed NCT00142402
39 Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study Completed NCT02729597
40 Pharmacological Cognitive Enhancement Completed NCT01684306 Early Phase 1
41 Effects of Modafinil, Caffeine and Methylphenidate in Healthy Volunteers Completed NCT02071615
42 Fire Fighter Fatigue Management Program: Operation Fight Fatigue Completed NCT01672502
43 A Web-based Observational Study of Patient-reported Outcomes in Adults With Narcolepsy Recruiting NCT02769780
44 Sleep and Memory in Children Recruiting NCT02785328
45 Metabolism Characteristics in the Children With Narcolepsy Recruiting NCT02799849
46 Understanding Sleep in Hospitalized Older Patients Recruiting NCT01057823
47 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
48 Screening Questionnaire for Respiratory Muscle Weakness and Sleep-disordered Breathing in Neuromuscular Disorders Recruiting NCT02833168
49 Evaluation of Academic and Professional Trajectories of Narcoleptic Patients Not yet recruiting NCT03173378
50 Self-Help Video for Insomnia in College Students Suspended NCT01928173

Search NIH Clinical Center for Narcolepsy 1

Genetic Tests for Narcolepsy 1

Genetic tests related to Narcolepsy 1:

id Genetic test Affiliating Genes
1 Narcolepsy 1 29 24 HCRT

Anatomical Context for Narcolepsy 1

MalaCards organs/tissues related to Narcolepsy 1:

39
Eye, Skeletal Muscle

Publications for Narcolepsy 1

Articles related to Narcolepsy 1:

id Title Authors Year
1
NARCOLEPSY. 1. NOCTURNAL DREAM FREQUENCY IN ADOLESCENTS. ( 14118068 )
1964

Variations for Narcolepsy 1

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

66
id Symbol AA change Variation ID SNP ID
1 HCRT p.Leu16Arg VAR_011633 rs104894574

ClinVar genetic disease variations for Narcolepsy 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HCRT NM_001524.1(HCRT): c.47T> G (p.Leu16Arg) single nucleotide variant Pathogenic rs104894574 GRCh37 Chromosome 17, 40336521: 40336521

Expression for Narcolepsy 1

Search GEO for disease gene expression data for Narcolepsy 1.

Pathways for Narcolepsy 1

GO Terms for Narcolepsy 1

Sources for Narcolepsy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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