NRCLP2
MCID: NRC010
MIFTS: 41

Narcolepsy 2 (NRCLP2)

Categories: Eye diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Narcolepsy 2

MalaCards integrated aliases for Narcolepsy 2:

Name: Narcolepsy 2 57 12
Narcolepsy 2, Susceptibility to 57 28 71
Narcolepsy Without Cataplexy 58 16
Narcolepsy Without Cataplexy and Hypocretin Deficiency 33
Narcolepsy Type 2 58
Nrclp2 57

Characteristics:


Prevelance:

Narcolepsy Type 2: 1-5/10000 (United States) 58

Age Of Onset:

Narcolepsy Type 2: Adolescent,Adult,Childhood 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 605841
OMIM Phenotypic Series 57 PS161400
ICD10 via Orphanet 32 G47.4
Orphanet 58 ORPHA83465
ICD11 33 1494673323
UMLS 71 C1853901

Summaries for Narcolepsy 2

Orphanet: 58 A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and sometimes sleep paralysis, and hypnagogic/hypnopompic hallucinations.

MalaCards based summary: Narcolepsy 2, also known as narcolepsy 2, susceptibility to, is related to hypersomnia and idiopathic hypersomnia. An important gene associated with Narcolepsy 2 is NRCLP2 (Narcolepsy, HLA-Associated), and among its related pathways/superpathways are Immune response Function of MEF2 in T lymphocytes and Immune response Antigen presentation by MHC class II. The drugs Flumazenil and Dextroamphetamine have been mentioned in the context of this disorder. Affiliated tissues include eye, temporal lobe and amygdala, and related phenotypes are hallucinations and insomnia

More information from OMIM: 605841 PS161400

Related Diseases for Narcolepsy 2

Diseases in the Narcolepsy family:

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

Diseases related to Narcolepsy 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 hypersomnia 30.2 HLA-DQB1 HCRT
2 idiopathic hypersomnia 30.2 HLA-DQB1 HCRT
3 sleep disorder 30.1 HLA-DQB1 HCRT
4 narcolepsy 1 29.4 ZNF365 HLA-DRB1 HLA-DQB1 HCRT
5 narcolepsy 28.3 ZNF365 NRCLP2 HLA-DRB1 HLA-DQB1 HCRT
6 syncope 10.1
7 apnea, obstructive sleep 10.1
8 recurrent hypersomnia 10.0 HLA-DQB1 HCRT
9 kleine-levin hibernation syndrome 10.0 HLA-DQB1 HCRT
10 periodic limb movement disorder 9.9 HLA-DQB1 HCRT
11 glioma susceptibility 1 9.9
12 delayed sleep phase disorder 9.9
13 sleep apnea 9.9
14 autoimmune encephalitis 9.9
15 glioma 9.9
16 oto-palatal-digital syndrome 9.9
17 postural tachycardia syndrome 9.9
18 glial tumor 9.9
19 pediatric multiple sclerosis 9.8 HLA-DRB1 HLA-DQB1
20 chronic beryllium disease 9.8 HLA-DRB1 HLA-DQB1
21 osteonecrosis of the jaw 9.8 HLA-DRB1 HLA-DQB1
22 persian gulf syndrome 9.8 HLA-DRB1 HLA-DQB1
23 podoconiosis 9.8 HLA-DRB1 HLA-DQB1
24 focal epithelial hyperplasia 9.8 HLA-DRB1 HLA-DQB1
25 pityriasis rosea 9.8 HLA-DRB1 HLA-DQB1
26 trachoma 9.8 HLA-DRB1 HLA-DQB1
27 cytomegalovirus retinitis 9.8 HLA-DRB1 HLA-DQB1
28 panuveitis 9.8 HLA-DRB1 HLA-DQB1
29 dermatitis herpetiformis 9.8 HLA-DRB1 HLA-DQB1
30 rheumatic fever 9.8 HLA-DRB1 HLA-DQB1
31 echinococcosis 9.8 HLA-DRB1 HLA-DQB1
32 chronic urticaria 9.8 HLA-DRB1 HLA-DQB1
33 japanese encephalitis 9.8 HLA-DRB1 HLA-DQB1
34 rheumatic heart disease 9.8 HLA-DRB1 HLA-DQB1
35 typhoid fever 9.8 HLA-DRB1 HLA-DQB1
36 severe cutaneous adverse reaction 9.8 HLA-DRB1 HLA-DQB1
37 silicosis 9.8 HLA-DRB1 HLA-DQB1
38 optic neuritis 9.8 HLA-DRB1 HLA-DQB1
39 calcinosis 9.8 HLA-DRB1 HLA-DQB1
40 lyme disease 9.8 HLA-DRB1 HLA-DQB1
41 pneumoconiosis 9.8 HLA-DRB1 HLA-DQB1
42 autoimmune disease of endocrine system 9.7 HLA-DRB1 HLA-DQB1
43 thyroiditis 9.7 HLA-DRB1 HLA-DQB1
44 mumps 9.7 HLA-DRB1 HLA-DQB1
45 rubella 9.7 HLA-DRB1 HLA-DQB1
46 visceral leishmaniasis 9.7 HLA-DRB1 HLA-DQB1
47 autoimmune disease of gastrointestinal tract 9.7 HLA-DRB1 HLA-DQB1
48 juvenile rheumatoid arthritis 9.7 HLA-DRB1 HLA-DQB1
49 pulmonary tuberculosis 9.7 HLA-DRB1 HLA-DQB1
50 alopecia areata 9.7 HLA-DRB1 HLA-DQB1

Graphical network of the top 20 diseases related to Narcolepsy 2:



Diseases related to Narcolepsy 2

Symptoms & Phenotypes for Narcolepsy 2

Human phenotypes related to Narcolepsy 2:

58 30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hallucinations 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000738
2 insomnia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100785
3 excessive daytime somnolence 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001262
4 sleep disturbance 58 Very frequent (99-80%)
5 behavioral abnormality 58 Occasional (29-5%)

Clinical features from OMIM®:

605841 (Updated 08-Dec-2022)

Drugs & Therapeutics for Narcolepsy 2

Drugs for Narcolepsy 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Flumazenil Approved Phase 1, Phase 2 78755-81-4 3373
2
Dextroamphetamine Approved, Illicit, Investigational Phase 2 51-64-9, 300-62-9 5826 3007
3
Modafinil Approved, Investigational Phase 2 68693-11-8 4236
4
Clarithromycin Approved Phase 2 81103-11-9 84029
5
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
6
Mazindol Approved, Investigational Phase 2 22232-71-9 4020
7 Antidotes Phase 1, Phase 2
8 GABA Modulators Phase 1, Phase 2
9 Protective Agents Phase 1, Phase 2
10 Adderall Phase 2
11 Sympathomimetics Phase 2
12 Antibiotics, Antitubercular Phase 2
13 Anti-Bacterial Agents Phase 2
14 Anti-Infective Agents Phase 2
15 Cytochrome P-450 Enzyme Inhibitors Phase 2
16 Cytochrome P-450 CYP3A Inhibitors Phase 2
17 Central Nervous System Stimulants Phase 2
18 Neurotransmitter Agents Phase 2
19 Adrenergic Agents Phase 2
20 Dopamine Uptake Inhibitors Phase 2
21 Dopamine Agents Phase 2

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 Informing Treatment Decisions in the Central Disorders of Hypersomnolence: A Pragmatic Clinical Trial of Modafinil Versus Amphetamines Recruiting NCT03772314 Phase 2 Modafinil;Amphetamine-Dextroamphetamine
5 Antibiotic-mediated Improvements in Vigilance: Mechanisms of Action of Clarithromycin in Hypersomnia Syndromes Recruiting NCT04026958 Phase 2 Clarithromycin;Placebo
6 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
7 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
8 Mind-Body Approach to Improve Health-Related Quality of Life for People With Narcolepsy Completed NCT04306952
9 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
10 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
11 'A Profile of Physical Performance Variables in an Out-patient Adult Population With Narcolepsy' Suspended NCT04419792

Search NIH Clinical Center for Narcolepsy 2

Genetic Tests for Narcolepsy 2

Genetic tests related to Narcolepsy 2:

# Genetic test Affiliating Genes
1 Narcolepsy 2, Susceptibility to 28

Anatomical Context for Narcolepsy 2

Organs/tissues related to Narcolepsy 2:

MalaCards : Eye, Temporal Lobe, Amygdala, Thalamus, Brain, Pituitary, Heart

Publications for Narcolepsy 2

Articles related to Narcolepsy 2:

(show top 50) (show all 185)
# Title Authors PMID Year
1
Linkage of human narcolepsy with HLA association to chromosome 4p13-q21. 57
10777671 2000
2
Differential characteristics of repeated polysomnography and multiple sleep latency test parameters in narcolepsy type 1 and type 2 patients: a longitudinal retrospective study. 62
34820763 2022
3
Differentiation of central disorders of hypersomnolence with manual and artificial-intelligence-derived polysomnographic measures. 62
36455881 2022
4
Central Disorders of Hypersomnolence: Association with Fatigue, Depression and Sleep Inertia Prevailing in Women. 62
36358417 2022
5
Clinical characteristics of a large cohort of patients with narcolepsy candidate for pitolisant: a cross-sectional study from the Italian PASS Wakix® Cohort. 62
35750949 2022
6
Orexin 2 receptor-selective agonist danavorexton improves narcolepsy phenotype in a mouse model and in human patients. 62
35994639 2022
7
Narcolepsy. 62
35624073 2022
8
18F-FDG Brain PET Findings in Narcolepsy Type 2. 62
35797634 2022
9
The association between narcolepsy during pregnancy and maternal-fetal risk factors/outcomes. 62
36158716 2022
10
The REM-sleep-related characteristics of narcolepsy: a nation-wide multicenter study in Turkey, the REMCON study. 62
35447401 2022
11
Data-Driven Phenotyping of Central Disorders of Hypersomnolence With Unsupervised Clustering. 62
35437263 2022
12
Comorbid parasomnias in narcolepsy and idiopathic hypersomnia: more REM than NREM parasomnias. 62
34984974 2022
13
The Psychomotor Vigilance Test as a measure of alertness and sleep inertia in people with central disorders of hypersomnolence. 62
35040431 2022
14
Development and Validation of the Pediatric Hypersomnolence Survey. 62
35314496 2022
15
The diagnostic value of sleep and vigilance tests in central disorders of hypersomnolence. 62
35038747 2022
16
Sleeping through a pandemic: impact of COVID-19-related restrictions on narcolepsy and idiopathic hypersomnia. 62
34314345 2022
17
The Impact of Sleep Pattern in School/Work Performance During the COVID-19 Home Quarantine in Patients With Narcolepsy. 62
35847213 2022
18
Idiopathic Hypersomnia: Historical Account, Critical Review of Current Tests and Criteria, Diagnostic Evaluation in the Absence of Biological Markers and Robust Electrophysiological Diagnostic Criteria. 62
35450222 2022
19
The Swiss Primary Hypersomnolence and Narcolepsy Cohort study (SPHYNCS): Study protocol for a prospective, multicentre cohort observational study. 62
33813771 2021
20
Cognitive dysfunction in central disorders of hypersomnolence: A systematic review. 62
34166991 2021
21
Narcolepsy: the impact of aging, hypocretin deficiency, and years of formal education in olfactory function and abdominal obesity. 62
34495122 2021
22
Changes in physiological network connectivity of body system in narcolepsy during REM sleep. 62
34399195 2021
23
Polysomnographic nighttime features of narcolepsy: A systematic review and meta-analysis. 62
33934047 2021
24
Stability of nocturnal wake and sleep stages defines central nervous system disorders of hypersomnolence. 62
33512510 2021
25
Cerebrospinal fluid monoamine levels in central disorders of hypersomnolence. 62
33476396 2021
26
Association of Central Hypersomnia and Fatigue in Patients With Multiple Sclerosis: A Polysomnographic Study. 62
33931534 2021
27
Narcolepsy type 2: A rare, yet existing entity. 62
32989797 2021
28
Cortical arousal frequency is increased in narcolepsy type 1. 62
33249455 2021
29
Nocturnal Rapid Eye Movement Sleep Without Atonia can Be a Diagnostic Parameter in Differentiating Narcolepsy Type 1 From Type 2. 62
32141986 2021
30
Actigraphy measurement of physical activity and energy expenditure in narcolepsy type 1, narcolepsy type 2 and idiopathic hypersomnia: A Sensewear Armband study. 62
32281246 2021
31
Type 1 narcolepsy without cataplexy and treatment progress: a case report. 62
33849131 2021
32
[Narcolepsy in adults: Definition, etiology and treatment]. 62
33339064 2021
33
Secondary Narcolepsy in Children. 62
32933368 2021
34
A practical guide to the pharmacological and behavioral therapy of Narcolepsy. 62
33886090 2021
35
On-the-road driving performance of patients with central disorders of hypersomnolence. 62
33543997 2021
36
Safety of Influenza A H1N1pdm09 Vaccines: An Overview of Systematic Reviews. 62
34777351 2021
37
Coexistence of Hereditary Spastic Paraplegia Type 4 and Narcolepsy: A Case Report. 62
33708099 2021
38
Disease symptomatology and response to treatment in people with idiopathic hypersomnia: initial data from the Hypersomnia Foundation registry. 62
32950878 2020
39
Defining disrupted nighttime sleep and assessing its diagnostic utility for pediatric narcolepsy type 1. 62
32253429 2020
40
Central Disorders of Hypersomnolence. 62
32756227 2020
41
Sleep-Wake Disorders in Childhood. 62
32756235 2020
42
Diagnosis of central disorders of hypersomnolence: A reappraisal by European experts. 62
32311642 2020
43
To split or to lump? Classifying the central disorders of hypersomnolence. 62
32193539 2020
44
Case report: narcolepsy type 2 due to temporal lobe glioma. 62
32664104 2020
45
Isolated Central Hypothyroidism in an Adolescent With Narcolepsy. 62
32656014 2020
46
Pharmacologic Management of Excessive Daytime Sleepiness. 62
32386693 2020
47
Narcolepsy treatment: pharmacological and behavioral strategies in adults and children. 62
31290083 2020
48
Comorbid psychiatric disorders among patients with narcolepsy. 62
31280401 2020
49
Health-related quality of life in patients with narcolepsy types 1 and 2 from a Sleep Center in Brazil. 62
32627808 2020
50
Utility of the sleep stage sequence preceding sleep onset REM periods for the diagnosis of narcolepsy: a study in a Japanese cohort. 62
31999982 2020

Variations for Narcolepsy 2

Expression for Narcolepsy 2

Search GEO for disease gene expression data for Narcolepsy 2.

Pathways for Narcolepsy 2

Pathways related to Narcolepsy 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.72 HLA-DRB1 HLA-DQB1
2
Show member pathways
11.49 HLA-DRB1 HLA-DQB1
3 11.48 HLA-DRB1 HLA-DQB1
4 11.42 HLA-DRB1 HLA-DQB1
5 11.12 HLA-DRB1 HLA-DQB1
6 10.92 HLA-DRB1 HLA-DQB1
7
Show member pathways
10.85 HLA-DRB1 HLA-DQB1
8 10.2 HLA-DRB1 HLA-DQB1

GO Terms for Narcolepsy 2

Cellular components related to Narcolepsy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endocytic vesicle membrane GO:0030666 9.5 HLA-DRB1 HLA-DQB1
2 clathrin-coated endocytic vesicle membrane GO:0030669 9.43 HLA-DRB1 HLA-DQB1
3 ER to Golgi transport vesicle membrane GO:0012507 9.33 HLA-DRB1 HLA-DQB1
4 transport vesicle membrane GO:0030658 9.13 HLA-DRB1 HLA-DQB1
5 MHC class II protein complex GO:0042613 8.92 HLA-DRB1 HLA-DQB1

Biological processes related to Narcolepsy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 humoral immune response GO:0006959 9.58 HLA-DRB1 HLA-DQB1
2 positive regulation of T cell activation GO:0050870 9.5 HLA-DRB1 HLA-DQB1
3 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.43 HLA-DRB1 HLA-DQB1
4 antigen processing and presentation GO:0019882 9.37 HLA-DRB1 HLA-DQB1
5 peptide antigen assembly with MHC class II protein complex GO:0002503 9.33 HLA-DRB1 HLA-DQB1
6 immunoglobulin production involved in immunoglobulin-mediated immune response GO:0002381 8.96 HLA-DRB1 HLA-DQB1
7 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 8.62 HLA-DRB1 HLA-DQB1

Molecular functions related to Narcolepsy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide antigen binding GO:0042605 9.33 HLA-DRB1 HLA-DQB1
2 MHC class II protein complex binding GO:0023026 9.13 HLA-DRB1 HLA-DQB1
3 MHC class II receptor activity GO:0032395 8.8 HLA-DRB1 HLA-DQB1

Sources for Narcolepsy 2

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
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