MCID: NRC009
MIFTS: 36

Narcolepsy 1 malady

Neuronal diseases category

Summaries for Narcolepsy 1

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46OMIM, 32MalaCards
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MalaCards: Narcolepsy 1, also known as narcolepsy-cataplexy syndrome, is related to narcolepsy and sleep disorder, and has symptoms including generalized obesity, speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia and collapse/sudden death/cardiac arrest/cardiorespiratory arrest. An important gene associated with Narcolepsy 1 is HCRT (hypocretin (orexin) neuropeptide precursor), and among its related pathways are Staphylococcus aureus infection and G-protein signaling N-RAS regulation pathway. The compound glatiramer acetate have been mentioned in the context of this disorder. Affiliated tissues include eye and skeletal muscle.

Description from OMIM:46 161400, 612417, 614223, 605841, 609039 612851, 614250 more

Aliases & Classifications for Narcolepsy 1

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Sources:
60UMLS, 46OMIM, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
narcolepsy-cataplexy:
Prevalence: 1-5/10000; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

narcolepsy 1 46 60
narcolepsy-cataplexy syndrome 60
narcolepsy-cataplexy 48
gélineau disease 48


External Ids:

MESH via Orphanet35 D009290
ICD10 via Orphanet26 G47.4
SNOMED-CT via Orphanet57 193042000, 60380001
UMLS via Orphanet61 C0027404, C0751362
ICD1025 G47.4

Related Diseases for Narcolepsy 1

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Narcolepsy 1:



Diseases related to narcolepsy 1

Clinical Features for Narcolepsy 1

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

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

Clinical synopsis from OMIM:

161400

Symptoms:

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

Drugs & Therapeutics for Narcolepsy 1

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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:
32MalaCards
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MalaCards organs/tissues related to Narcolepsy 1:

32
Eye, Skeletal muscle

Animal Models for Narcolepsy 1 or affiliated genes

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Publications for Narcolepsy 1

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Genetic Variations for Narcolepsy 1

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Narcolepsy 1:

62
id Symbol AA change Variation ID SNP ID
1HCRTp.Leu16ArgVAR_011633

Expression for genes affiliated with Narcolepsy 1

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Sources:
1BioGPS, 15Gene 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:
29KEGG, 12EMD Millipore, 53Reactome
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Compounds for genes affiliated with Narcolepsy 1

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Sources:
44Novoseek, 11DrugBank
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Compounds related to Narcolepsy 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glatiramer acetate44 1110.5HLA-DRB1, MOG

GO Terms for genes affiliated with Narcolepsy 1

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Sources:
16Gene Ontology
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Cellular components related to Narcolepsy 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:0426139.6HLA-DRB1, HLA-DQB1
2clathrin-coated endocytic vesicle membraneGO:0306699.6HLA-DRB1, HLA-DQB1
3integral to lumenal side of endoplasmic reticulum membraneGO:0715569.6HLA-DRB1, HLA-DQB1
4transport vesicle membraneGO:0306589.5HLA-DQB1, HLA-DRB1
5endocytic vesicle membraneGO:0306669.5HLA-DRB1, HLA-DQB1
6ER to Golgi transport vesicle membraneGO:0125079.4HLA-DQB1, HLA-DRB1
7trans-Golgi network membraneGO:0325889.2HLA-DRB1, HLA-DQB1

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

idNameGO IDScoreTop Affiliating Genes
1phospholipase C-activating G-protein coupled receptor signaling pathwayGO:0072009.7P2RY11, HCRT
2immunoglobulin production involved in immunoglobulin mediated immune responseGO:0023819.5HLA-DRB1, HLA-DQB1
3humoral immune response mediated by circulating immunoglobulinGO:0024559.4HLA-DRB1, HLA-DQB1
4negative regulation of interferon-gamma productionGO:0326898.9HLA-DRB1, TNFSF4

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

idNameGO IDScoreTop Affiliating Genes
1MHC class II receptor activityGO:0323959.5HLA-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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet