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NRCLP2
MCID: NRC010
MIFTS: 36

Narcolepsy 2 (NRCLP2)

Categories: Eye diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Narcolepsy 2

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MalaCards integrated aliases for Narcolepsy 2:

Name: Narcolepsy 2 57 13
Narcolepsy 2, Susceptibility to 57 29 70
Narcolepsy Without Cataplexy 58 17
Narcolepsy Type 2 58
Nrclp2 57

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:

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


External Ids:

OMIM® 57 605841
OMIM Phenotypic Series 57 PS161400
ICD10 via Orphanet 33 G47.4
Orphanet 58 ORPHA83465
UMLS 70 C1853901
Sources

Summaries for Narcolepsy 2

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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 Translocation of ZAP-70 to Immunological synapse and MHC class II antigen presentation. The drugs Clarithromycin and Cytochrome P-450 CYP3A Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye, pituitary and heart, and related phenotypes are hallucinations and insomnia

More information from OMIM: 605841 PS161400
Sources

Related Diseases for Narcolepsy 2

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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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 hypersomnia 29.6 HLA-DRB1 HLA-DQB1 HCRT
2 idiopathic hypersomnia 29.4 HLA-DRB1 HLA-DQB1 HCRT
3 narcolepsy 28.3 ZNF365 NRCLP2 HLA-DRB1 HLA-DQB1 HCRT
4 sleep disorder 10.2
5 leukoencephalopathy, hereditary diffuse, with spheroids 10.1
6 kleine-levin hibernation syndrome 10.0 HLA-DQB1 HCRT
7 recurrent hypersomnia 10.0 HLA-DQB1 HCRT
8 delayed sleep phase disorder 9.9
9 sleep apnea 9.9
10 glioma 9.9
11 glial tumor 9.9
12 limbic encephalitis with lgi1 antibodies 9.8 HLA-DRB1 HLA-DQB1
13 autoimmune polyglandular syndrome type 3 9.8 HLA-DRB1 HLA-DQB1
14 htlv-1 associated myelopathy/tropical spastic paraparesis 9.8 HLA-DRB1 HLA-DQB1
15 latent autoimmune diabetes in adults 9.8 HLA-DRB1 HLA-DQB1
16 occupational asthma 9.8 HLA-DRB1 HLA-DQB1
17 primary adrenal insufficiency 9.8 HLA-DRB1 HLA-DQB1
18 recurrent respiratory papillomatosis 9.8 HLA-DRB1 HLA-DQB1
19 beryllium disease 9.8 HLA-DRB1 HLA-DQB1
20 apple allergy 9.8 HLA-DRB1 HLA-DQB1
21 chronic beryllium disease 9.8 HLA-DRB1 HLA-DQB1
22 metal allergy 9.8 HLA-DRB1 HLA-DQB1
23 autoimmune hepatitis 9.8 HLA-DRB1 HLA-DQB1
24 autoimmune hepatitis type 1 9.8 HLA-DRB1 HLA-DQB1
25 focal epithelial hyperplasia 9.8 HLA-DRB1 HLA-DQB1
26 pediatric multiple sclerosis 9.8 HLA-DRB1 HLA-DQB1
27 neuromyelitis optica 9.8 HLA-DRB1 HCRT
28 podoconiosis 9.8 HLA-DRB1 HLA-DQB1
29 pemphigoid 9.8 HLA-DRB1 HLA-DQB1
30 osteonecrosis of the jaw 9.8 HLA-DRB1 HLA-DQB1
31 pityriasis rosea 9.8 HLA-DRB1 HLA-DQB1
32 oligoarticular juvenile idiopathic arthritis 9.8 HLA-DRB1 HLA-DQB1
33 idiopathic nephrotic syndrome 9.8 HLA-DRB1 HLA-DQB1
34 ocular cicatricial pemphigoid 9.8 HLA-DRB1 HLA-DQB1
35 cicatricial pemphigoid 9.8 HLA-DRB1 HLA-DQB1
36 alveolar echinococcosis 9.8 HLA-DRB1 HLA-DQB1
37 paraneoplastic pemphigus 9.8 HLA-DRB1 HLA-DQB1
38 pemphigus 9.8 HLA-DRB1 HLA-DQB1
39 cytomegalovirus retinitis 9.8 HLA-DRB1 HLA-DQB1
40 cystic echinococcosis 9.8 HLA-DRB1 HLA-DQB1
41 pure red-cell aplasia 9.8 HLA-DRB1 HLA-DQB1
42 trachoma 9.8 HLA-DRB1 HLA-DQB1
43 microscopic colitis 9.8 HLA-DRB1 HLA-DQB1
44 autoimmune gastritis 9.8 HLA-DRB1 HLA-DQB1
45 cervical dystonia 9.8 HLA-DRB1 HLA-DQB1
46 acute chest syndrome 9.8 HLA-DRB1 HLA-DQB1
47 peanut allergy 9.8 HLA-DRB1 HLA-DQB1
48 panuveitis 9.8 HLA-DRB1 HLA-DQB1
49 idiopathic bronchiectasis 9.8 HLA-DRB1 HLA-DQB1
50 allergic bronchopulmonary aspergillosis 9.8 HLA-DRB1 HLA-DQB1

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



Diseases related to Narcolepsy 2
Sources

Symptoms & Phenotypes for Narcolepsy 2

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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 sleep disturbance 58 Very frequent (99-80%)
5 behavioral abnormality 58 Occasional (29-5%)

Clinical features from OMIM®:

605841 (Updated 20-May-2021)

Sources

Drugs & Therapeutics for Narcolepsy 2

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clarithromycin Approved Phase 2 81103-11-9 84029
2 Cytochrome P-450 CYP3A Inhibitors Phase 2
3 Anti-Bacterial Agents Phase 2
4 Antibiotics, Antitubercular Phase 2
5 Anti-Infective Agents Phase 2
6 Cytochrome P-450 Enzyme Inhibitors 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 Antibiotic-mediated Improvements in Vigilance: Mechanisms of Action of Clarithromycin in Hypersomnia Syndromes Recruiting NCT04026958 Phase 2 Clarithromycin;Placebo
3 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
4 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

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Genetic Tests for Narcolepsy 2

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Genetic tests related to Narcolepsy 2:

# Genetic test Affiliating Genes
1 Narcolepsy 2, Susceptibility to 29
Sources

Anatomical Context for Narcolepsy 2

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MalaCards organs/tissues related to Narcolepsy 2:

40
Eye, Pituitary, Heart
Sources

Publications for Narcolepsy 2

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Articles related to Narcolepsy 2:

# Title Authors PMID Year
1
Linkage of human narcolepsy with HLA association to chromosome 4p13-q21. 57
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
Sources

Variations for Narcolepsy 2

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Expression for Narcolepsy 2

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Search GEO for disease gene expression data for Narcolepsy 2.
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Pathways for Narcolepsy 2

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

# Super pathways Score Top Affiliating Genes
1
Translocation of ZAP-70 to Immunological synapse 65
Show member pathways
 11.44 HLA-DRB1 HLA-DQB1
2
MHC class II antigen presentation 65
11.38 HLA-DRB1 HLA-DQB1
3
Hematopoietic cell lineage 36
11.32 HLA-DRB1 HLA-DQB1
4
Staphylococcus aureus infection 36
11.24 HLA-DRB1 HLA-DQB1
5
Rheumatoid arthritis 36
11.12 HLA-DRB1 HLA-DQB1
6
CTLA4 Signaling 63
10.81 HLA-DRB1 HLA-DQB1
7
G-protein signaling N-RAS regulation pathway 23
Show member pathways
 10.58 HLA-DRB1 HLA-DQB1
Sources

GO Terms for Narcolepsy 2

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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 9.37 HLA-DRB1 HLA-DQB1
2 interferon-gamma-mediated signaling pathway GO:0060333 9.32 HLA-DRB1 HLA-DQB1
3 antigen processing and presentation GO:0019882 9.26 HLA-DRB1 HLA-DQB1
4 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.16 HLA-DRB1 HLA-DQB1
5 humoral immune response mediated by circulating immunoglobulin GO:0002455 8.96 HLA-DRB1 HLA-DQB1
6 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

Sources for Narcolepsy 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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