MCID: NRC009
MIFTS: 39

Narcolepsy 1 malady

Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases categories
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Summaries for Narcolepsy 1

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MalaCards based summary: Narcolepsy 1, also known as narcolepsy-cataplexy syndrome, is related to narcolepsy and rheumatoid arthritis, and has symptoms including sleep and vigilance disorders, somnolence/hypersomnia/parasomnia and troubles of memory/amnesia/hypermnesia. 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.

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

Aliases & Classifications for Narcolepsy 1

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Sources:
62UMLS, 46OMIM, 48Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet, 25ICD10
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Narcolepsy 1, Aliases & Descriptions:

Name: Narcolepsy 1 46 62
Narcolepsy-Cataplexy Syndrome 62
 
Narcolepsy-Cataplexy 48
GĂ©lineau Disease 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

ICD10 via Orphanet26 G47.4
UMLS via Orphanet63 C0027404, C0751362
MESH via Orphanet35 D009290
ICD1025 G47.4

Related Diseases for Narcolepsy 1

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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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Symptoms by clinical synopsis from OMIM:

161400

Clinical features from OMIM:

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

Symptoms:

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

HPO human phenotypes related to Narcolepsy 1:

(show all 18)
id Description Frequency HPO Source Accession
1 hallucinations hallmark (90%) HP:0000738
2 muscle weakness hallmark (90%) HP:0001324
3 memory impairment hallmark (90%) HP:0002354
4 sleep disturbance hallmark (90%) HP:0002360
5 reduced consciousness/confusion hallmark (90%) HP:0004372
6 abnormality of eye movement typical (50%) HP:0000496
7 obesity occasional (7.5%) HP:0001513
8 sudden cardiac death occasional (7.5%) HP:0001645
9 neurological speech impairment occasional (7.5%) HP:0002167
10 autosomal dominant inheritance HP:0000006
11 heterogeneous HP:0001425
12 abnormality of metabolism/homeostasis HP:0001939
13 excessive daytime sleepiness HP:0002189
14 paroxysmal drowsiness HP:0002330
15 abnormal rapid eye movement (rem) sleep HP:0002494
16 hypnagogic hallucinations HP:0002519
17 cataplexy HP:0002524
18 hypnopompic hallucinations HP:0006896

Drugs & Therapeutics for Narcolepsy 1

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Drug clinical trials:

Search ClinicalTrials for Narcolepsy 1

Search NIH Clinical Center for Narcolepsy 1

Genetic Tests for Narcolepsy 1

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Anatomical Context for Narcolepsy 1

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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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Variations for Narcolepsy 1

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UniProtKB/Swiss-Prot genetic disease variations for Narcolepsy 1:

64
id Symbol AA change Variation ID SNP ID
1HCRTp.Leu16ArgVAR_011633

Clinvar genetic disease variations for Narcolepsy 1:

6
id Gene Name Type Significance SNP ID Assembly Location
1MOGNM_002433.4(MOG): c.398C> G (p.Ser133Cys)single nucleotide variantPathogenicrs387906655GRCh37Chr 6, 29627405: 29627405
2HCRTNM_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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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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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 1110.2MOG, HLA-DRB1
2c-peptide449.0HCRT, HLA-DRB1
3oligonucleotide448.8HCRT, HLA-DRB1, HLA-DQB1

GO Terms for genes affiliated with Narcolepsy 1

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet