MCID: NRC009
MIFTS: 39

Narcolepsy 1 malady

Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases categories

Summaries for Narcolepsy 1

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48OMIM, 34MalaCards
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MalaCards: Narcolepsy 1, also known as narcolepsy-cataplexy syndrome, is related to narcolepsy and schizophrenia, and has symptoms including somnolence/hypersomnia/parasomnia, troubles of memory/amnesia/hypermnesia and anomalies of eyes and vision. An important gene associated with Narcolepsy 1 is HCRT (hypocretin (orexin) neuropeptide precursor), and among its related pathways are Immune response Antigen presentation by MHC class II and CD28 co-stimulation. The compounds glatiramer acetate and c-peptide have been mentioned in the context of this disorder. Affiliated tissues include eye and skeletal muscle.

Description from OMIM:48 161400, 612417, 614223, 605841, 609039 612851, 614250 more

Aliases & Classifications for Narcolepsy 1

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Sources:
48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases


Characteristics (Orphanet epidemiological data):

50
narcolepsy-cataplexy:
Prevalence: 1-5/10000; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

narcolepsy 1 48 63
narcolepsy-cataplexy syndrome 63
narcolepsy-cataplexy 50
gƩlineau disease 50


External Ids:

MESH via Orphanet37 D009290
ICD10 via Orphanet27 G47.4
SNOMED-CT via Orphanet60 193042000, 60380001
UMLS via Orphanet64 C0027404, C0751362
ICD1026 G47.4

Related Diseases for Narcolepsy 1

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Sources:
18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Narcolepsy 1:



Diseases related to narcolepsy 1

Symptoms for Narcolepsy 1

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

161400

Clinical features from OMIM:

161400,612417,614223,605841,609039,612851,614250

Symptoms:

50 (show all 10)
  • somnolence/hypersomnia/parasomnia
  • troubles of memory/amnesia/hypermnesia
  • anomalies of eyes and vision
  • delirium/hallucination
  • muscle weakness/flaccidity
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • abnormal eye movements/oculomotor disorder
  • sleep and vigilance disorders
  • generalized obesity

Drugs & Therapeutics for Narcolepsy 1

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Narcolepsy 1

Drug clinical trials:

Search ClinicalTrials for Narcolepsy 1

Search NIH Clinical Center for Narcolepsy 1

Search CenterWatch for Narcolepsy 1

Genetic Tests for Narcolepsy 1

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Anatomical Context for Narcolepsy 1

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Sources:
34MalaCards
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MalaCards organs/tissues related to Narcolepsy 1:

34
Eye, Skeletal muscle

Animal Models for Narcolepsy 1 or affiliated genes

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Publications for Narcolepsy 1

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Variations for Narcolepsy 1

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Narcolepsy 1:

65
id Symbol AA change Variation ID SNP ID
1HCRTp.Leu16ArgVAR_011633

Clinvar genetic disease variations for Narcolepsy 1:

1
id Gene Name Type Significance SNP ID Assembly Location
1HCRTNM_001524.1(HCRT): c.47T> G (p.Leu16Arg)single nucleotide variantPathogenicrs104894574GRCh37Chr 17, 40336521: 40336521

Expression for genes affiliated with Narcolepsy 1

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Narcolepsy 1

Search GEO for disease gene expression data for Narcolepsy 1.

Pathways for genes affiliated with Narcolepsy 1

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Sources:
51PathCards, 61Thomson Reuters, 54QIAGEN, 56Reactome, 31KEGG
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Compounds for genes affiliated with Narcolepsy 1

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Sources:
46Novoseek, 12DrugBank
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Compounds related to Narcolepsy 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glatiramer acetate46 1210.1MOG, HLA-DRB1
2c-peptide469.0HCRT, HLA-DRB1
3oligonucleotide468.8HCRT, HLA-DRB1, HLA-DQB1

GO Terms for genes affiliated with Narcolepsy 1

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Sources:
17Gene Ontology
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Cellular components related to Narcolepsy 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:0426139.3HLA-DRB1, HLA-DQB1
2integral component of lumenal side of endoplasmic reticulum membraneGO:0715569.2HLA-DRB1, HLA-DQB1
3clathrin-coated endocytic vesicle membraneGO:0306699.2HLA-DRB1, HLA-DQB1
4transport vesicle membraneGO:0306589.1HLA-DQB1, HLA-DRB1
5endocytic vesicle membraneGO:0306669.1HLA-DRB1, HLA-DQB1
6ER to Golgi transport vesicle membraneGO:0125079.0HLA-DRB1, HLA-DQB1
7trans-Golgi network membraneGO:0325888.8HLA-DRB1, HLA-DQB1

Biological processes related to Narcolepsy 1 according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1phospholipase C-activating G-protein coupled receptor signaling pathwayGO:0072009.7P2RY11, HCRT
2immunoglobulin production involved in immunoglobulin mediated immune responseGO:0023819.3HLA-DRB1, HLA-DQB1
3humoral immune response mediated by circulating immunoglobulinGO:0024559.3HLA-DRB1, HLA-DQB1
4negative regulation of interferon-gamma productionGO:0326899.2TNFSF4, HLA-DRB1
5interferon-gamma-mediated signaling pathwayGO:0603339.1HLA-DRB1, HLA-DQB1
6antigen processing and presentation of exogenous peptide antigen via MHC class IIGO:0198869.1HLA-DRB1, HLA-DQB1
7T cell costimulationGO:0312959.0HLA-DRB1, HLA-DQB1
8T cell receptor signaling pathwayGO:0508528.8HLA-DRB1, HLA-DQB1
9immune responseGO:0069558.6HLA-DQB1, HLA-DRB1, TNFSF4

Molecular functions related to Narcolepsy 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class II receptor activityGO:0323959.1HLA-DRB1, HLA-DQB1

Products for genes affiliated with Narcolepsy 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Narcolepsy 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet