NRCLP2
MCID: NRC010
MIFTS: 36

Narcolepsy 2 (NRCLP2)

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

Aliases & Classifications for Narcolepsy 2

MalaCards integrated aliases for Narcolepsy 2:

Name: Narcolepsy 2 56 13
Narcolepsy 2, Susceptibility to 56 29 71
Narcolepsy Without Cataplexy 58 17
Narcolepsy Type 2 58
Nrclp2 56

Characteristics:

Orphanet epidemiological data:

58
narcolepsy type 2
Prevalence: 1-5/10000 (United States); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 605841
OMIM Phenotypic Series 56 PS161400
ICD10 via Orphanet 33 G47.4
Orphanet 58 ORPHA83465
UMLS 71 C1853901

Summaries for Narcolepsy 2

MalaCards based summary : Narcolepsy 2, also known as narcolepsy 2, susceptibility to, is related to idiopathic hypersomnia and hypersomnia. An important gene associated with Narcolepsy 2 is NRCLP2 (Narcolepsy, HLA-Associated), and among its related pathways/superpathways are Phagosome and Cell adhesion molecules (CAMs). The drugs Flumazenil and Histamine have been mentioned in the context of this disorder. Affiliated tissues include pituitary, 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 73)
# Related Disease Score Top Affiliating Genes
1 idiopathic hypersomnia 30.0 HLA-DQB1 HCRT
2 hypersomnia 29.2 HLA-DRB1 HLA-DQB1 HCRT
3 narcolepsy 27.7 ZNF365 NRCLP2 HLA-DRB1 HLA-DQB1 HCRT
4 leukoencephalopathy, hereditary diffuse, with spheroids 10.1
5 body mass index quantitative trait locus 11 10.1
6 body mass index quantitative trait locus 9 10.1
7 body mass index quantitative trait locus 8 10.1
8 body mass index quantitative trait locus 4 10.1
9 body mass index quantitative trait locus 10 10.1
10 body mass index quantitative trait locus 7 10.1
11 body mass index quantitative trait locus 12 10.1
12 body mass index quantitative trait locus 14 10.1
13 body mass index quantitative trait locus 18 10.1
14 body mass index quantitative trait locus 19 10.1
15 body mass index quantitative trait locus 20 10.1
16 sleep disorder 10.0
17 kleine-levin hibernation syndrome 9.9 HLA-DQB1 HCRT
18 recurrent hypersomnia 9.9 HLA-DQB1 HCRT
19 limbic encephalitis with lgi1 antibodies 9.7 HLA-DRB1 HLA-DQB1
20 autoimmune polyglandular syndrome type 3 9.7 HLA-DRB1 HLA-DQB1
21 primary adrenal insufficiency 9.7 HLA-DRB1 HLA-DQB1
22 type ii mixed cryoglobulinemia 9.7 HLA-DRB1 HLA-DQB1
23 moyamoya angiopathy 9.7 HLA-DRB1 HLA-DQB1
24 recurrent respiratory papillomatosis 9.7 HLA-DRB1 HLA-DQB1
25 beryllium disease 9.7 HLA-DRB1 HLA-DQB1
26 apple allergy 9.7 HLA-DRB1 HLA-DQB1
27 chronic beryllium disease 9.7 HLA-DRB1 HLA-DQB1
28 autoimmune hepatitis 9.7 HLA-DRB1 HLA-DQB1
29 autoimmune hepatitis type 1 9.7 HLA-DRB1 HLA-DQB1
30 focal epithelial hyperplasia 9.7 HLA-DRB1 HLA-DQB1
31 pediatric multiple sclerosis 9.7 HLA-DRB1 HLA-DQB1
32 metal allergy 9.7 HLA-DRB1 HLA-DQB1
33 idiopathic bronchiectasis 9.7 HLA-DRB1 HLA-DQB1
34 neuromyelitis optica 9.7 HLA-DRB1 HCRT
35 osteonecrosis of the jaw 9.7 HLA-DRB1 HLA-DQB1
36 pityriasis rosea 9.7 HLA-DRB1 HLA-DQB1
37 red cell aplasia 9.7 HLA-DRB1 HLA-DQB1
38 oligoarticular juvenile idiopathic arthritis 9.7 HLA-DRB1 HLA-DQB1
39 ocular cicatricial pemphigoid 9.7 HLA-DRB1 HLA-DQB1
40 cicatricial pemphigoid 9.7 HLA-DRB1 HLA-DQB1
41 whipple disease 9.7 HLA-DRB1 HLA-DQB1
42 paraneoplastic pemphigus 9.7 HLA-DRB1 HLA-DQB1
43 pemphigus 9.7 HLA-DRB1 HLA-DQB1
44 alveolar echinococcosis 9.7 HLA-DRB1 HLA-DQB1
45 pure red-cell aplasia 9.7 HLA-DRB1 HLA-DQB1
46 cytomegalovirus retinitis 9.7 HLA-DRB1 HLA-DQB1
47 microscopic colitis 9.7 HLA-DRB1 HLA-DQB1
48 cystic echinococcosis 9.7 HLA-DRB1 HLA-DQB1
49 peanut allergy 9.7 HLA-DRB1 HLA-DQB1
50 panuveitis 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 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hallucinations 58 31 hallmark (90%) Very frequent (99-80%) HP:0000738
2 insomnia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100785
3 excessive daytime somnolence 58 31 hallmark (90%) Very frequent (99-80%) HP:0001262
4 behavioral abnormality 58 Occasional (29-5%)
5 sleep disturbance 58 Very frequent (99-80%)

Clinical features from OMIM:

605841

Drugs & Therapeutics for Narcolepsy 2

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

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Flumazenil Approved Phase 1, Phase 2 78755-81-4 3373
2
Histamine Approved, Investigational Phase 2 51-45-6 774
3
Clarithromycin Approved Phase 2 81103-11-9 84029
4
Dextroamphetamine Approved, Illicit Phase 2 51-64-9 5826
5
Modafinil Approved, Investigational Phase 2 68693-11-8 4236
6
Amphetamine Approved, Illicit, Investigational Phase 2 300-62-9 5826 3007
7
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
8 Antidotes Phase 1, Phase 2
9 GABA Modulators Phase 1, Phase 2
10 Protective Agents Phase 1, Phase 2
11
Histamine Phosphate Phase 2 51-74-1 65513
12 Cytochrome P-450 Enzyme Inhibitors Phase 2
13 Anti-Infective Agents Phase 2
14 Anti-Bacterial Agents Phase 2
15 Antibiotics, Antitubercular Phase 2
16 Cytochrome P-450 CYP3A Inhibitors Phase 2
17 Neurotransmitter Agents Phase 2
18 Central Nervous System Stimulants Phase 2
19 Adrenergic Agents Phase 2
20 adderall Phase 2
21 Sympathomimetics Phase 2
22 Dopamine Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 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
3 Clarithromycin for the Treatment of Hypersomnia Completed NCT01146600 Phase 2 Clarithromycin followed by placebo;Placebo then Clarithromycin
4 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
5 Antibiotic-mediated Improvements in Vigilance: Mechanisms of Action of Clarithromycin in Hypersomnia Syndromes Recruiting NCT04026958 Phase 2 Clarithromycin;Placebo
6 Informing Treatment Decisions in the Central Disorders of Hypersomnolence: A Pragmatic Clinical Trial of Modafinil Versus Amphetamines Recruiting NCT03772314 Phase 2 Modafinil;Amphetamine-Dextroamphetamine
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) Recruiting NCT04096560 Phase 2 TAK-994;Placebo
8 Constitution of a Clinical, Neurophysiological and Biological Cohort for Chronic Sleep Disorders Responsible of Hypersomnolence Recruiting NCT03998020
9 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

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 29

Anatomical Context for Narcolepsy 2

MalaCards organs/tissues related to Narcolepsy 2:

40
Pituitary

Publications for Narcolepsy 2

Articles related to Narcolepsy 2:

# Title Authors PMID Year
1
Linkage of human narcolepsy with HLA association to chromosome 4p13-q21. 56
10777671 2000
2
Diagnosis of central disorders of hypersomnolence: A reappraisal by European experts. 61
32311642 2020
3
Knowledge Gaps in the Perioperative Management of Adults With Narcolepsy: A Call for Further Research. 61
30882519 2019
4
Decreased incidence of childhood narcolepsy 2 years after the 2009 H1N1 winter flu pandemic. 61
23225098 2013
5
Acquired narcolepsy in an acromegalic patient who underwent pituitary irradiation. 61
12939432 2003
6
The narcoleptic borderland: a multimodal diagnostic approach including cerebrospinal fluid levels of hypocretin-1 (orexin A). 61
14592354 2003
7
Erectile dysfunction and symptoms of sleep disorders. 61
12227360 2002
8
Serotonergic polymorphisms in patients suffering from alcoholism, anxiety disorders and narcolepsy. 61
11444684 2001
9
[Sleep-apnea syndrome. Elucidation, therapy and course]. 61
3051335 1988
10
Successful treatment of idiopathic hypersomnia and narcolepsy with modafinil. 61
2906157 1988

Variations for Narcolepsy 2

Expression for Narcolepsy 2

Search GEO for disease gene expression data for Narcolepsy 2.

Pathways for Narcolepsy 2

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 trans-Golgi network membrane GO:0032588 9.4 HLA-DRB1 HLA-DQB1
2 endocytic vesicle membrane GO:0030666 9.37 HLA-DRB1 HLA-DQB1
3 ER to Golgi transport vesicle membrane GO:0012507 9.32 HLA-DRB1 HLA-DQB1
4 transport vesicle membrane GO:0030658 9.26 HLA-DRB1 HLA-DQB1
5 clathrin-coated endocytic vesicle membrane GO:0030669 9.16 HLA-DRB1 HLA-DQB1
6 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 8.96 HLA-DRB1 HLA-DQB1
7 MHC class II protein complex GO:0042613 8.62 HLA-DRB1 HLA-DQB1

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

# Name GO ID Score Top Affiliating Genes
1 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.32 HLA-DRB1 HLA-DQB1
2 interferon-gamma-mediated signaling pathway GO:0060333 9.26 HLA-DRB1 HLA-DQB1
3 antigen processing and presentation GO:0019882 9.16 HLA-DRB1 HLA-DQB1
4 humoral immune response mediated by circulating immunoglobulin GO:0002455 8.96 HLA-DRB1 HLA-DQB1
5 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 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 8.96 HLA-DRB1 HLA-DQB1
2 MHC class II receptor activity GO:0032395 8.62 HLA-DRB1 HLA-DQB1

Sources for Narcolepsy 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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