MCID: NRC002
MIFTS: 71

Narcolepsy malady

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

Summaries for Narcolepsy

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 45NINDS, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 Narcolepsy is a sleep disorder that causes episodes of extreme daytime sleepiness. three other major symptoms frequently characterize narcolepsy: cataplexy, or the sudden loss of voluntary muscle tone; vivid hallucinations during sleep onset or upon awakening; and brief episodes of sleep paralysis. the disorder is estimated to affect about one in every 2,000 americans. most cases of narcolepsy are sporadic, which means that the condition occurs in one person in a family and is not inherited. however, up to 10 percent of individuals with narcolepsy have a close relative with the same symptoms. other factors may be involved in causing narcolepsy, such as infection, immune-system dysfunction, trauma, hormonal changes, stress. last updated: 3/9/2011

MalaCards: Narcolepsy, also known as narcolepsy-cataplexy syndrome, is related to sleep disorder and narcolepsy 1, and has symptoms including somnolence/hypersomnia/parasomnia, delirium/hallucination and psychic/behavioural troubles. An important gene associated with Narcolepsy is HCRT (hypocretin (orexin) neuropeptide precursor), and among its related pathways are Immune response NFAT in immune response and Neuropeptides signaling through G protein alpha i and G protein alpha q. The drugs amphetamine and dextroamphetamine sulfate and the compounds sb-334867 and sb-408124 have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related mouse phenotypes are nervous system and behavior/neurological.

Disease Ontology:9 A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.

NINDS:45 Narcolepsy is a chronic neurological disorder caused by the brain's inability to regulate sleep-wake cycles normally. At various times throughout the day, people with narcolepsy experience irresistable bouts of

Wikipedia:66 Narcolepsy /?n?rk??l?psi/, also known as hypnolepsy, is a chronic neurological disorder caused by... more...

Aliases & Classifications for Narcolepsy

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 45NINDS, 46Novoseek, 63UMLS, 50Orphanet, 59SNOMED-CT, 28ICD9CM, 36MeSH, 41NCIt, 27ICD10 via Orphanet
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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 without cataplexy:
Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

narcolepsy 9 44 23 22 45 46 63
narcolepsy-cataplexy syndrome 44 63
narcoleptic syndrome 44 22
gelineau syndrome 44 22
paroxysmal sleep 9 44
narcolepsy, without cataplexy 9
narcolepsy without cataplexy 50
gelineau's syndrome 44


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Disease Ontology9 DOID:8986
ICD9CM28 347.0
MeSH36 D009290
NCIt41 C84489
ICD10 via Orphanet27 G47.4

Related Diseases for Narcolepsy

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Narcolepsy family:

Narcolepsy 2 Narcolepsy 7
Narcolepsy 5 Narcolepsy 1
Narcolepsy 6 Narcolepsy 3
Narcolepsy 4

Diseases related to Narcolepsy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1sleep disorder30.9HCRTR2, HCRT, HCRTR1
2narcolepsy 130.9HCRT
3multiple sclerosis30.5HLA-DRB1, HLA-DQB1, MOG, HCRT
4schizophrenia30.4DRD1, DNMT1, MOG, HCRT, HLA-DRB1, HLA-DQB1
5neuromyelitis optica30.2MOG
6eating disorder30.2HCRT, HCRTR1
7acute disseminated encephalomyelitis30.0MOG
8hypersomnia10.8
9influenza10.5
10neuronitis10.5
11sleep apnea10.5
12obstructive sleep apnea10.4
13obesity10.4
14rem sleep behavior disorder10.4
15idiopathic hypersomnia without long sleep time10.3
16restless legs syndrome10.3
17parkinson's disease10.3
18cerebellar ataxia, deafness, and narcolepsy, autosomal dominant10.3
19cerebritis10.1
20anxiety disorder10.1
21cerebellar ataxia10.1
22idiopathic hypersomnolence10.1
23ataxia10.1
24narcolepsy 210.1
25narcolepsy 610.1
26narcolepsy 310.1
27narcolepsy 410.1
28blindness10.1
29multiple sclerosis 110.1HLA-DRB1, HLA-DQB1
30guillain-barre syndrome10.1HCRT, MOG
31adrenal adenoma10.1HCRT, HCRTR2, HCRTR1
32pulmonary tuberculosis10.1HLA-DRB1, HLA-DQB1
33hypersensitivity reaction type ii disease10.1MOG, HLA-DQB1, HLA-DRB1
34bipolar disorder10.1
35encephalitis10.1
36precocious puberty10.1
37narcolepsy risk factor10.1
38narcolepsy 710.1
39narcolepsy 510.1
40drug addiction10.1HCRT, DRD1
41pheochromocytoma10.0HCRTR2, DNMT1, HCRTR1, HCRT
42juvenile rheumatoid arthritis10.0HLA-DQB1, HLA-DRB1
43hepatitis b10.0HLA-DQB1, DNMT1, IGHM, HLA-DRB1, MOG
44systemic lupus erythematosus10.0HLA-DQB1, IGHM, HLA-DRB1, TNFSF4, DNMT1
45paranoid schizophrenia9.9
46kleine-levin syndrome9.9
47periodic limb movement disorder9.9
48alzheimer's disease9.9
49hyperinsulinism9.9
50holoprosencephaly9.9

Graphical network of the top 20 diseases related to Narcolepsy:



Diseases related to narcolepsy

Symptoms for Narcolepsy

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Sources:
50Orphanet
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Symptoms:

50
  • somnolence/hypersomnia/parasomnia
  • delirium/hallucination
  • psychic/behavioural troubles
  • sleep and vigilance disorders

Drugs & Therapeutics for Narcolepsy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Genetic Tests for Narcolepsy

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23GTR
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Genetic tests related to Narcolepsy:

id Genetic test Affiliating Genes
1 Narcolepsy23

Anatomical Context for Narcolepsy

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

34
Brain, Testes, Eye, T cells, Amygdala, Cortex, Skin, Heart, Hypothalamus, Colon, Prefrontal cortex

Animal Models for Narcolepsy or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Narcolepsy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.1HCRTR2, HCRT, HCRTR1, MOG, DNMT1, DRD1
2MP:00053868.8NPTX2, HLA-DQB1, HCRTR2, HCRT, HCRTR1, MOG

Publications for Narcolepsy

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Sources:
53PubMed
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Articles related to Narcolepsy:

(show top 50)    (show all 642)
idTitleAuthorsYear
1
ImmunoChip study implicates antigen presentation to T cells in narcolepsy. (23459209)
2013
2
Hypothalamic Immunopathology in Anti-Ma-Associated Diencephalitis With Narcolepsy-Cataplexy. (23939463)
2013
3
Time perception in narcolepsy in comparison to patients with Parkinson's disease and healthy controls - an exploratory study. (23879404)
2013
4
Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic. (24204295)
2013
5
Nocturnal rapid eye movement sleep latency for identifying patients with narcolepsy/hypocretin deficiency. (23649748)
2013
6
Increased risk of narcolepsy in children and adults after pandemic H1N1 vaccination in France. (23884811)
2013
7
Cases of pediatric narcolepsy after misdiagnoses. (23044019)
2012
8
HLA-DQ association and allele competition in Chinese narcolepsy. (22862152)
2012
9
Use of PCR with sequence-specific primers for high-resolution human leukocyte antigen typing of patients with narcolepsy. (22259780)
2012
10
Narcolepsy and sleep-disordered breathing. (22182320)
2012
11
Narcolepsy: neural mechanisms of sleepiness and cataplexy. (22956821)
2012
12
Clinical and polysomnographic characteristics in 20 North Indian patients with narcolepsy: a seven-year experience from a neurology service sleep clinic. (22406785)
2012
13
The burden of narcolepsy with cataplexy: how disease history and clinical features influence socio-economic outcomes. (23026503)
2012
14
Narcolepsy presenting as schizophrenia: a literature review and two case reports. (21637632)
2011
15
Cerebrospinal fluid hypocretin 1 deficiency, overweight, and metabolic dysregulation in patients with narcolepsy. (22171205)
2011
16
Aspects of the narcolepsy-cataplexy syndrome in O/E3-null mutant mice. (21435382)
2011
17
Severe mania complicating treatment of narcolepsy with cataplexy. (21509339)
2011
18
Rapid eye movement sleep behaviour disorder in patients with narcolepsy is associated with hypocretin-1 deficiency. (20129934)
2010
19
Olfactory dysfunction in narcolepsy with and without cataplexy. (20513636)
2010
20
Clinical and therapeutic aspects of childhood narcolepsy-cataplexy: a retrospective study of 51 children. (21102987)
2010
21
Use of sodium oxybate (Xyrem in patients with dual diagnosis of narcolepsy and sleep apnea. (19962938)
2010
22
Sleep: Narcolepsy--a role for TRIB2 autoantibodies? (20455283)
2010
23
Prevalence of narcolepsy with cataplexy in Norway. (19456307)
2009
24
Tianeptine treating narcolepsy. Case report. (20035252)
2009
25
Narcolepsy and streptococcal infections. (20041589)
2009
26
Symptomatic narcolepsy in patients with neuromyelitis optica and multiple sclerosis: new neurochemical and immunological implications. (20008665)
2009
27
Childhood narcolepsy with partial facial cataplexy: a diagnostic dilemma. (19147400)
2009
28
Distribution of neurochemical abnormalities in patients with narcolepsy with cataplexy: An in vivo brain proton MR spectroscopy study. (19463917)
2009
29
Nocturnal aspects of narcolepsy with cataplexy. (18282773)
2008
30
Manipulation of core body and skin temperature improves vigilance and maintenance of wakefulness in narcolepsy. (18274271)
2008
31
Identification of differentially expressed genes in blood cells of narcolepsy patients. (17702266)
2007
32
Narcolepsy, metabolic syndrome and obstructive sleep apnea syndrome as the causes of hypersomnia in children. Report of three cases. (18229667)
2007
33
Treatment of narcolepsy with cataplexy. (17398305)
2007
34
Low-resolution brain electromagnetic tomography (LORETA) identifies brain regions linked to psychometric performance under modafinil in narcolepsy. (17187965)
2007
35
A study of the diagnostic utility of HLA typing, CSF hypocretin-1 measurements, and MSLT testing for the diagnosis of narcolepsy in 163 Korean patients with unexplained excessive daytime sleepiness. (17162989)
2006
36
Reduced hypothalamic gray matter in narcolepsy with cataplexy. (17187022)
2006
37
Symptomatic narcolepsy, cataplexy and hypersomnia, and their implications in the hypothalamic hypocretin/orexin system. (16006155)
2005
38
The effect of hypocretin replacement therapy in a 3-year-old Weimaraner with narcolepsy. (15320603)
2004
39
Screening for candidate gene regions in narcolepsy using a microsatellite based approach and pooled DNA. (15309313)
2004
40
The clinical spectrum of narcolepsy with cataplexy: a reappraisal. (15560774)
2004
41
Decreased cerebrospinal fluid hypocretin-1 levels near the onset of narcolepsy in 2 prepubertal children. (12938807)
2003
42
The role of cerebrospinal fluid hypocretin measurement in the diagnosis of narcolepsy and other hypersomnias. (12374492)
2002
43
Low cerebrospinal fluid hypocretin levels found in familial narcolepsy. (14592396)
2001
44
Polymorphisms in hypocretin/orexin pathway genes and narcolepsy. (11723285)
2001
45
Linkage of human narcolepsy with HLA association to chromosome 4p13-q21. (10777671)
2000
46
Reduced leptin levels in human narcolepsy. (11070422)
2000
47
Hypocretin (orexin) deficiency in human narcolepsy. (10615891)
2000
48
Narcolepsy: a key role for hypocretins (orexins) (10481905)
1999
49
Cerebrospinal fluid monoamine metabolites in narcolepsy and hypersomnia. (6189447)
1983
50
REM sleep and NREM sleep in narcolepsy and hypersomnia. (4183371)
1969

Variations for Narcolepsy

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Narcolepsy:

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

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

Search GEO for disease gene expression data for Narcolepsy.

Pathways for genes affiliated with Narcolepsy

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Sources:
51PathCards, 61Thomson Reuters, 13EMD Millipore, 39NCBI BioSystems Database, 56Reactome, 31KEGG
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Pathways related to Narcolepsy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Immune response T cell receptor signaling pathway61
Immune response CD28 signaling61
Immune response ICOS pathway in T helper cell61
10.0HLA-DRB1, HLA-DQB1, IGHM
2
Show member pathways
Peptide GPCRs39
10.0HCRTR1, HCRT, HCRTR2
3
Show member pathways
9.8P2RY11, HCRTR1, HCRT, HCRTR2
4
Show member pathways
9.6HCRTR2, HCRT, HCRTR1, P2RY11, DRD1

Compounds for genes affiliated with Narcolepsy

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Sources:
30IUPHAR, 46Novoseek, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 25HMDB
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Compounds related to Narcolepsy according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1sb-3348673010.5HCRTR1, HCRTR2
2sb-4081243010.5HCRTR2, HCRTR1
3act-0785733010.5HCRTR2, HCRTR1
4[ala11, d-leu15]orexin-b3010.5HCRTR1, HCRTR2
51-(2-bromo-phenyl)-3-((4s,5s)-2,2-dimethyl-4-phenyl-[1,3]dioxan-5-yl)-urea3010.5HCRTR1, HCRTR2
61-(2,4-dibromo-phenyl)-3-((4s,5s)-2,2-dimethyl-4-phenyl-[1,3]dioxan-5-yl)-urea3010.5HCRTR1, HCRTR2
7mk-60963010.5HCRTR2, HCRTR1
8orexin-a3010.4HCRTR1, HCRTR2
9suvorexant3010.4HCRTR1, HCRTR2
10[3h]sb-6740423010.4HCRTR1, HCRTR2
11orexin-b3010.4HCRTR1, HCRTR2
12sb-6498683010.4HCRTR1, HCRTR2
13glatiramer acetate46 1211.4HLA-DRB1, MOG
14methylphenidate46 52 1212.3HCRT, DRD1
15bamhi4610.3DNMT1, HLA-DQB1
16ecori4610.2HLA-DQB1, DNMT1
17isoflurane52 46 1212.2HCRTR1, HCRT
18catecholamine4610.2DRD1, HCRT, HCRTR2
19muscimol46 62 3012.1DRD1, HCRT
20acetylcholine46 52 30 25 1214.0DRD1, MOG, HCRTR1, HCRT, HCRTR2
21adenylate469.7HCRT, HCRTR1, DNMT1, DRD1
22acth469.7HCRTR1, HCRT, HCRTR2
23glutamate469.6HLA-DQB1, HLA-DRB1, HCRT, DNMT1, DRD1, NPTX2
24calcium46 52 25 1212.3HCRTR2, HCRT, HCRTR1, P2RY11, MOG, DNMT1

GO Terms for genes affiliated with Narcolepsy

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

idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:04261310.3HLA-DRB1, HLA-DQB1
2integral component of lumenal side of endoplasmic reticulum membraneGO:07155610.3HLA-DQB1, HLA-DRB1
3clathrin-coated endocytic vesicle membraneGO:03066910.3HLA-DRB1, HLA-DQB1
4trans-Golgi network membraneGO:03258810.2HLA-DRB1, HLA-DQB1
5transport vesicle membraneGO:03065810.1HLA-DQB1, HLA-DRB1
6ER to Golgi transport vesicle membraneGO:0125079.9HLA-DRB1, HLA-DQB1
7integral component of plasma membraneGO:0058879.6DRD1, P2RY11, TNFSF4, HCRTR1, HCRTR2, HLA-DRB1
8plasma membraneGO:0058869.2IGHM, HLA-DQB1, HLA-DRB1, HCRTR2, HCRTR1, P2RY11

Biological processes related to Narcolepsy according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1immunoglobulin production involved in immunoglobulin mediated immune responseGO:00238110.3HLA-DRB1, HLA-DQB1
2humoral immune response mediated by circulating immunoglobulinGO:00245510.3HLA-DQB1, HLA-DRB1
3phospholipase C-activating G-protein coupled receptor signaling pathwayGO:00720010.1HCRTR2, HCRT, P2RY11
4feeding behaviorGO:00763110.1HCRTR1, HCRTR2
5negative regulation of interferon-gamma productionGO:03268910.1HLA-DRB1, TNFSF4
6neuropeptide signaling pathwayGO:00721810.0HCRTR1, HCRT, HCRTR2
7activation of adenylate cyclase activityGO:0071909.8DRD1, P2RY11
8synaptic transmissionGO:0072689.7NPTX2, P2RY11, HCRTR1, HCRT, HCRTR2

Molecular functions related to Narcolepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peptide hormone bindingGO:01704610.1HCRTR1, HCRTR2
2orexin receptor activityGO:01649910.0HCRTR1, HCRTR2
3MHC class II receptor activityGO:0323959.9HLA-DRB1, HLA-DQB1

Products for genes affiliated with Narcolepsy

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  • Antibodies
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Sources for Narcolepsy

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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