MCID: NRC002
MIFTS: 67

Narcolepsy malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Narcolepsy

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 21Genetics Home Reference, 42NINDS, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 27ICD9CM, 55SNOMED-CT, 33MeSH, 38NCIt, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet, 25ICD10
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Narcolepsy, Aliases & Descriptions:

Name: Narcolepsy 9 41 21 42 43 22 60
Narcolepsy-Cataplexy Syndrome 41 60
Narcolepsy Without Cataplexy 47 60
Narcolepsy-Cataplexy 41 47
Narcoleptic Syndrome 41 21
 
Gélineau Disease 41 47
Gelineau Syndrome 41 21
Paroxysmal Sleep 9 41
Narcolepsy, Without Cataplexy 9
Gelineau's Syndrome 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
narcolepsy-cataplexy:
Prevalence: 1-5/10000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy
narcolepsy without cataplexy:
Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:8986
ICD9CM27 347.0
MeSH33 D009290
NCIt38 C84489
Orphanet47 2073, 83465
ICD10 via Orphanet26 G47.4
UMLS via Orphanet61 C0027404, C0751362
MESH via Orphanet34 D009290
ICD1025 G47.4

Summaries for Narcolepsy

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NIH Rare Diseases:41 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 narcolepsy-cataplexy syndrome, is related to sleep disorder and narcolepsy 1, and has symptoms including hallucinations, muscle weakness and memory impairment. An important gene associated with Narcolepsy is HCRT (hypocretin (orexin) neuropeptide precursor), and among its related pathways are MHC class II antigen presentation and Immune response NFAT in immune response. The drugs amphetamine and modafinil 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 phenotype behavior/neurological.

Disease Ontology:9 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:42 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:63 Narcolepsy /?n?rk??l?psi/, also known as hypnolepsy, is a chronic neurological disorder involving the... more...

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 Narcolepsy Risk Factor

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

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1sleep disorder31.6HCRTR2, HCRT, HCRTR1
2narcolepsy 131.5HCRT
3schizophrenia30.9HLA-DRB1, HLA-DQB1, DRD1, HCRT, DNMT1, MOG
4neuromyelitis optica30.8MOG
5acute disseminated encephalomyelitis30.7MOG
6eating disorder30.6HCRTR1, HCRT
7rheumatoid arthritis30.1HLA-DQB1, IGHM, HLA-DRB1, CTSH, MOG
8hypersomnia10.8
9influenza10.5
10neuronitis10.5
11sleep apnea10.5
12adrenal cortical adenoma10.4HCRTR2, HCRT, HCRTR1
13obesity10.4
14obstructive sleep apnea10.4
15rem sleep behavior disorder10.4
16guillain-barre syndrome10.4HCRT, MOG
17hypersensitivity reaction type ii disease10.4HLA-DRB1, HLA-DQB1, MOG
18cerebellar ataxia, deafness, and narcolepsy, autosomal dominant10.4
19drug addiction10.4DRD1, HCRT
20pheochromocytoma10.4DNMT1, HCRT, HCRTR1, HCRTR2
21demyelinating disease10.4MOG, HCRT
22pulmonary tuberculosis10.4HLA-DRB1, HLA-DQB1
23hepatitis b10.4IGHM, HLA-DQB1, HLA-DRB1, MOG, DNMT1
24multiple sclerosis, disease progression, modifier of10.4HCRT, HLA-DRB1, MOG, HLA-DQB1
25systemic lupus erythematosus10.3IGHM, HLA-DQB1, HLA-DRB1, TNFSF4, DNMT1
26narcolepsy 710.3
27narcolepsy 310.3
28idiopathic hypersomnia without long sleep time10.3
29narcolepsy 210.3
30narcolepsy 510.3
31restless legs syndrome10.3
32juvenile rheumatoid arthritis10.2HLA-DQB1, HLA-DRB1
33narcolepsy 610.2
34narcolepsy 410.2
35cerebellar ataxia10.2
36ataxia10.2
37blindness10.2
38cerebritis10.2
39anxiety disorder10.2
40idiopathic hypersomnolence10.2
41narcolepsy risk factor10.2
42arthritis10.1
43bipolar disorder10.1
44kleine-levin syndrome10.1
45encephalitis10.1
46precocious puberty10.1
47alzheimer disease9.9
48obsessive-compulsive disorder9.9
49neuroblastoma9.9
50alopecia9.9

Graphical network of the top 20 diseases related to Narcolepsy:



Diseases related to narcolepsy

Symptoms for Narcolepsy

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Symptoms:

 47 (show all 11)
  • 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
  • psychic/behavioural troubles

HPO human phenotypes related to Narcolepsy:

(show all 9)
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

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:

31
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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053869.8DRD1, DNMT1, MOG, HCRTR1, HCRT, HCRTR2

Publications for Narcolepsy

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Articles related to Narcolepsy:

(show top 50)    (show all 696)
idTitleAuthorsYear
1
Hypothalamic-Amygdalar-Brainstem Volume Reduction in a Patient with Narcolepsy Secondary to Diffuse Axonal Injury. (25665696)
2015
2
Narcolepsy with Cataplexy in an Elderly Woman. (25784528)
2015
3
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
4
Complete loss of F-waves during cataplectic attacks in patients with narcolepsy. (25355831)
2014
5
Dysautonomia in narcolepsy: evidence by questionnaire assessment. (25324880)
2014
6
ImmunoChip study implicates antigen presentation to T cells in narcolepsy. (23459209)
2013
7
Hypothalamic Immunopathology in Anti-Ma-Associated Diencephalitis With Narcolepsy-Cataplexy. (23939463)
2013
8
Time perception in narcolepsy in comparison to patients with Parkinson's disease and healthy controls - an exploratory study. (23879404)
2013
9
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
10
Nocturnal rapid eye movement sleep latency for identifying patients with narcolepsy/hypocretin deficiency. (23649748)
2013
11
Cases of pediatric narcolepsy after misdiagnoses. (23044019)
2012
12
HLA-DQ association and allele competition in Chinese narcolepsy. (22862152)
2012
13
Use of PCR with sequence-specific primers for high-resolution human leukocyte antigen typing of patients with narcolepsy. (22259780)
2012
14
Narcolepsy and sleep-disordered breathing. (22182320)
2012
15
Narcolepsy: neural mechanisms of sleepiness and cataplexy. (22956821)
2012
16
Narcolepsy presenting as schizophrenia: a literature review and two case reports. (21637632)
2011
17
Cerebrospinal fluid hypocretin 1 deficiency, overweight, and metabolic dysregulation in patients with narcolepsy. (22171205)
2011
18
Aspects of the narcolepsy-cataplexy syndrome in O/E3-null mutant mice. (21435382)
2011
19
Severe mania complicating treatment of narcolepsy with cataplexy. (21509339)
2011
20
Rapid eye movement sleep behaviour disorder in patients with narcolepsy is associated with hypocretin-1 deficiency. (20129934)
2010
21
Olfactory dysfunction in narcolepsy with and without cataplexy. (20513636)
2010
22
Clinical and therapeutic aspects of childhood narcolepsy-cataplexy: a retrospective study of 51 children. (21102987)
2010
23
Use of sodium oxybate (Xyrem in patients with dual diagnosis of narcolepsy and sleep apnea. (19962938)
2010
24
Sleep: Narcolepsy--a role for TRIB2 autoantibodies? (20455283)
2010
25
Prevalence of narcolepsy with cataplexy in Norway. (19456307)
2009
26
Tianeptine treating narcolepsy. Case report. (20035252)
2009
27
Narcolepsy and streptococcal infections. (20041589)
2009
28
Symptomatic narcolepsy in patients with neuromyelitis optica and multiple sclerosis: new neurochemical and immunological implications. (20008665)
2009
29
Childhood narcolepsy with partial facial cataplexy: a diagnostic dilemma. (19147400)
2009
30
Distribution of neurochemical abnormalities in patients with narcolepsy with cataplexy: An in vivo brain proton MR spectroscopy study. (19463917)
2009
31
Nocturnal aspects of narcolepsy with cataplexy. (18282773)
2008
32
Manipulation of core body and skin temperature improves vigilance and maintenance of wakefulness in narcolepsy. (18274271)
2008
33
Identification of differentially expressed genes in blood cells of narcolepsy patients. (17702266)
2007
34
Narcolepsy, metabolic syndrome and obstructive sleep apnea syndrome as the causes of hypersomnia in children. Report of three cases. (18229667)
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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Clinvar genetic disease variations for Narcolepsy:

6
id Gene Variation 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

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Search GEO for disease gene expression data for Narcolepsy.

Pathways for genes affiliated with Narcolepsy

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Pathways related to Narcolepsy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2CTSH, HLA-DRB1, HLA-DQB1
2
Show member pathways
Immune response T cell receptor signaling pathway58
Immune response CD28 signaling58
Immune response ICOS pathway in T helper cell58
10.2IGHM, HLA-DQB1, HLA-DRB1
3
Show member pathways
10.1HCRT, P2RY11, HCRTR1, HCRTR2
4
Show member pathways
10.0HCRTR2, P2RY11, DRD1, HCRTR1, HCRT

Compounds for genes affiliated with Narcolepsy

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Compounds related to Narcolepsy according to GeneCards Suite gene sharing:

(show all 24)
idCompoundScoreTop Affiliating Genes
1sb-3348672810.6HCRTR1, HCRTR2
2sb-4081242810.6HCRTR2, HCRTR1
3act-0785732810.6HCRTR2, HCRTR1
4[ala11, d-leu15]orexin-b2810.6HCRTR1, HCRTR2
51-(2-bromo-phenyl)-3-((4s,5s)-2,2-dimethyl-4-phenyl-[1,3]dioxan-5-yl)-urea2810.6HCRTR1, HCRTR2
61-(2,4-dibromo-phenyl)-3-((4s,5s)-2,2-dimethyl-4-phenyl-[1,3]dioxan-5-yl)-urea2810.6HCRTR1, HCRTR2
7mk-60962810.6HCRTR2, HCRTR1
8orexin-a2810.6HCRTR1, HCRTR2
9suvorexant2810.6HCRTR1, HCRTR2
10[3h]sb-6740422810.6HCRTR1, HCRTR2
11orexin-b2810.5HCRTR1, HCRTR2
12sb-6498682810.5HCRTR1, HCRTR2
13glatiramer acetate43 1211.5HLA-DRB1, MOG
14methylphenidate43 49 1212.5HCRT, DRD1
15bamhi4310.4DNMT1, HLA-DQB1
16catecholamine4310.4HCRTR2, HCRT, DRD1
17acetylcholine43 49 28 24 1214.4DRD1, MOG, HCRTR1, HCRT, HCRTR2
18ecori4310.4DNMT1, HLA-DQB1
19isoflurane49 43 1212.3HCRTR1, HCRT
20muscimol43 59 2812.3DRD1, HCRT
21glutamate4310.3DRD1, DNMT1, HCRT, HLA-DRB1, HLA-DQB1
22adenylate4310.0HCRT, HCRTR1, DNMT1, DRD1
23calcium43 49 24 1212.9HCRTR2, HCRT, HCRTR1, P2RY11, MOG, DNMT1
24acth439.9HCRTR1, HCRT, HCRTR2

GO Terms for genes affiliated with Narcolepsy

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Cellular components related to Narcolepsy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:004261310.5HLA-DRB1, HLA-DQB1
2integral component of lumenal side of endoplasmic reticulum membraneGO:007155610.4HLA-DQB1, HLA-DRB1
3clathrin-coated endocytic vesicle membraneGO:003066910.4HLA-DRB1, HLA-DQB1
4trans-Golgi network membraneGO:003258810.3HLA-DRB1, HLA-DQB1
5transport vesicle membraneGO:003065810.2HLA-DRB1, HLA-DQB1
6integral component of plasma membraneGO:000588710.1HLA-DRB1, DRD1, TNFSF4, HCRTR1, HCRTR2, P2RY11
7ER to Golgi transport vesicle membraneGO:001250710.0HLA-DRB1, HLA-DQB1
8plasma membraneGO:00058869.7MOG, P2RY11, HCRTR1, IGHM, DRD1, HLA-DQB1

Biological processes related to Narcolepsy according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1immunoglobulin production involved in immunoglobulin mediated immune responseGO:000238110.5HLA-DRB1, HLA-DQB1
2humoral immune response mediated by circulating immunoglobulinGO:000245510.5HLA-DQB1, HLA-DRB1
3phospholipase C-activating G-protein coupled receptor signaling pathwayGO:000720010.4P2RY11, HCRT, HCRTR2
4neuropeptide signaling pathwayGO:000721810.3HCRTR1, HCRT, HCRTR2
5negative regulation of interferon-gamma productionGO:003268910.3TNFSF4, HLA-DRB1
6adaptive immune responseGO:000225010.3CTSH, IGHM
7activation of adenylate cyclase activityGO:000719010.2P2RY11, DRD1
8synaptic transmissionGO:000726810.2HCRTR2, HCRT, HCRTR1, P2RY11
9feeding behaviorGO:000763110.0HCRTR1, HCRTR2

Molecular functions related to Narcolepsy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1peptide hormone bindingGO:001704610.3HCRTR1, HCRTR2
2orexin receptor activityGO:001649910.2HCRTR1, HCRTR2
3MHC class II receptor activityGO:003239510.0HLA-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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet