MCID: NRC002
MIFTS: 75

Narcolepsy malady

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

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NIH Rare Diseases:42 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 based summary: Narcolepsy, also known as narcoleptic syndrome, is related to narcolepsy 1 and sleep disorder, and has symptoms including sleep and vigilance disorders, somnolence/hypersomnia/parasomnia and delirium/hallucination. 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 methylphenidate and methylphenidate hydrochloride and the compounds sb-334867 and sb-408124 have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and testes, and related mouse phenotypes are nervous system and behavior/neurological.

Disease Ontology:8 A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.

Genetics Home Reference:21 Narcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence.

NINDS:43 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:65 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:
8Disease Ontology, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 43NINDS, 44Novoseek, 62UMLS, 48Orphanet, 39NCIt, 27ICD9CM, 34MeSH, 57SNOMED-CT, 26ICD10 via Orphanet
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Narcolepsy, Aliases & Descriptions:

Name: Narcolepsy 8 42 22 21 43 44 62
Narcoleptic Syndrome 42 21 62
Gelineau Syndrome 42 21 62
Paroxysmal Sleep 8 42 62
 
Narcolepsy-Cataplexy Syndrome 42 62
Narcolepsy Without Cataplexy 48 62
Narcolepsy, Without Cataplexy 8
Gelineau's Syndrome 42


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 without cataplexy:
Age of onset: Adolescence / Young adulthood; Age of death: Normal


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Disease Ontology8 DOID:8986
NCIt39 C84489
ICD9CM27 347.0
MeSH34 D009290
ICD10 via Orphanet26 G47.4

Related Diseases for Narcolepsy

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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 73)
idRelated DiseaseScoreTop Affiliating Genes
1narcolepsy 131.5HCRT
2sleep disorder31.3HCRTR1, HCRT, HCRTR2
3neuromyelitis optica30.8MOG
4multiple sclerosis30.8MOG, HCRT, HLA-DRB1, HLA-DQB1
5acute disseminated encephalomyelitis30.7MOG
6eating disorder30.6HCRT, HCRTR1
7schizophrenia30.5HLA-DQB1, HLA-DRB1, HCRT, MOG, DNMT1, DRD1
8hypersomnia10.8
9influenza10.5
10sleep apnea10.5
11neuronitis10.5
12obesity10.4
13obstructive sleep apnea10.4
14rem sleep behavior disorder10.4
15multiple sclerosis 110.4HLA-DRB1, HLA-DQB1
16guillain-barre syndrome10.4MOG, HCRT
17idiopathic hypersomnia without long sleep time10.3
18adrenal cortical adenoma10.3HCRTR2, HCRT, HCRTR1
19drug addiction10.3DRD1, HCRT
20hypersensitivity reaction type ii disease10.3HLA-DQB1, HLA-DRB1, MOG
21parkinson's disease10.3
22restless legs syndrome10.3
23cerebellar ataxia, deafness, and narcolepsy, autosomal dominant10.3
24pulmonary tuberculosis10.3HLA-DRB1, HLA-DQB1
25demyelinating disease10.3HCRT, MOG
26cerebellar ataxia10.2
27ataxia10.2
28narcolepsy 210.2
29blindness10.2
30pheochromocytoma10.2DNMT1, HCRTR1, HCRT, HCRTR2
31cerebritis10.2
32anxiety disorder10.2
33idiopathic hypersomnolence10.2
34narcolepsy 710.2
35narcolepsy 310.2
36narcolepsy 410.2
37juvenile rheumatoid arthritis10.1HLA-DQB1, HLA-DRB1
38hepatitis b10.1IGHM, HLA-DQB1, HLA-DRB1, MOG, DNMT1
39arthritis10.1
40bipolar disorder10.1
41rheumatoid arthritis10.1
42kleine-levin syndrome10.1
43encephalitis10.1
44precocious puberty10.1
45narcolepsy risk factor10.1
46narcolepsy 510.1
47narcolepsy 610.1
48systemic lupus erythematosus10.1IGHM, HLA-DQB1, HLA-DRB1, TNFSF4, DNMT1
49alopecia9.9
50alzheimer's disease9.9

Graphical network of the top 20 diseases related to Narcolepsy:



Diseases related to narcolepsy

Symptoms for Narcolepsy

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Symptoms:

48
  • sleep and vigilance disorders
  • somnolence/hypersomnia/parasomnia
  • delirium/hallucination
  • psychic/behavioural troubles

HPO human phenotypes related to Narcolepsy:

id Description Frequency HPO Source Accession
1 hallucinations hallmark (90%) HP:0000738
2 sleep disturbance hallmark (90%) HP:0002360
3 reduced consciousness/confusion hallmark (90%) HP:0004372

Drugs & Therapeutics for Narcolepsy

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Genetic Tests for Narcolepsy

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Genetic tests related to Narcolepsy:

id Genetic test Affiliating Genes
1 Narcolepsy22

Anatomical Context for Narcolepsy

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MalaCards organs/tissues related to Narcolepsy:

32
Brain, Eye, Testes, T cells, Amygdala, Heart, Cortex, Skin, Colon, Prefrontal cortex, Hypothalamus

Animal Models for Narcolepsy or affiliated genes

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MGI Mouse Phenotypes related to Narcolepsy:

36
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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Articles related to Narcolepsy:

(show top 50)    (show all 671)
idTitleAuthorsYear
1
Sleepiness and Performance Is Disproportionate in Patients with Non-Organic Hypersomnia in Comparison to Patients with Narcolepsy and Mild to Moderate Obstructive Sleep Apnoea. (25377356)
2014
2
Complete loss of F-waves during cataplectic attacks in patients with narcolepsy. (25355831)
2014
3
Dysautonomia in narcolepsy: evidence by questionnaire assessment. (25324880)
2014
4
ImmunoChip study implicates antigen presentation to T cells in narcolepsy. (23459209)
2013
5
Hypothalamic Immunopathology in Anti-Ma-Associated Diencephalitis With Narcolepsy-Cataplexy. (23939463)
2013
6
Time perception in narcolepsy in comparison to patients with Parkinson's disease and healthy controls - an exploratory study. (23879404)
2013
7
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
8
Nocturnal rapid eye movement sleep latency for identifying patients with narcolepsy/hypocretin deficiency. (23649748)
2013
9
Cases of pediatric narcolepsy after misdiagnoses. (23044019)
2012
10
HLA-DQ association and allele competition in Chinese narcolepsy. (22862152)
2012
11
Use of PCR with sequence-specific primers for high-resolution human leukocyte antigen typing of patients with narcolepsy. (22259780)
2012
12
Narcolepsy: neural mechanisms of sleepiness and cataplexy. (22956821)
2012
13
Clinical and polysomnographic characteristics in 20 North Indian patients with narcolepsy: a seven-year experience from a neurology service sleep clinic. (22406785)
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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Expression for genes affiliated with Narcolepsy

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Expression patterns in normal tissues for genes affiliated with Narcolepsy

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Pathways for genes affiliated with Narcolepsy

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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 pathway60
Immune response CD28 signaling60
Immune response ICOS pathway in T helper cell60
10.0HLA-DRB1, HLA-DQB1, IGHM
2
Show member pathways
Peptide GPCRs37
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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Compounds related to Narcolepsy according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1sb-3348672810.5HCRTR1, HCRTR2
2sb-4081242810.5HCRTR2, HCRTR1
3act-0785732810.5HCRTR2, HCRTR1
4[ala11, d-leu15]orexin-b2810.5HCRTR1, HCRTR2
51-(2-bromo-phenyl)-3-((4s,5s)-2,2-dimethyl-4-phenyl-[1,3]dioxan-5-yl)-urea2810.5HCRTR1, HCRTR2
61-(2,4-dibromo-phenyl)-3-((4s,5s)-2,2-dimethyl-4-phenyl-[1,3]dioxan-5-yl)-urea2810.5HCRTR1, HCRTR2
7mk-60962810.5HCRTR2, HCRTR1
8orexin-a2810.4HCRTR1, HCRTR2
9suvorexant2810.4HCRTR1, HCRTR2
10[3h]sb-6740422810.4HCRTR1, HCRTR2
11orexin-b2810.4HCRTR1, HCRTR2
12sb-6498682810.4HCRTR1, HCRTR2
13glatiramer acetate44 1111.4HLA-DRB1, MOG
14methylphenidate44 50 1112.3HCRT, DRD1
15bamhi4410.3DNMT1, HLA-DQB1
16ecori4410.2HLA-DQB1, DNMT1
17isoflurane50 44 1112.2HCRTR1, HCRT
18catecholamine4410.2DRD1, HCRT, HCRTR2
19muscimol44 61 2812.1DRD1, HCRT
20acetylcholine44 50 28 24 1114.0DRD1, MOG, HCRTR1, HCRT, HCRTR2
21adenylate449.7HCRT, HCRTR1, DNMT1, DRD1
22acth449.7HCRTR1, HCRT, HCRTR2
23glutamate449.6HLA-DQB1, HLA-DRB1, HCRT, DNMT1, DRD1, NPTX2
24calcium44 50 24 1112.3HCRTR2, HCRT, HCRTR1, P2RY11, MOG, DNMT1

GO Terms for genes affiliated with Narcolepsy

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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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Sources for Narcolepsy

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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