NRCLP1
MCID: NRC009
MIFTS: 47

Narcolepsy 1 (NRCLP1)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Narcolepsy 1

MalaCards integrated aliases for Narcolepsy 1:

Name: Narcolepsy 1 57 75 29 13 6 73
Narcolepsy-Cataplexy Syndrome 75 73
Cataplexy and Narcolepsy 29 6
Narcoleptic Syndrome 1 57 75
Nrclp1 57 75
Narcolepsy-Cataplexy 59
Narcolepsy, Type 1 40
Narcolepsy Type 1 59
Gélineau Disease 59

Characteristics:

Orphanet epidemiological data:

59
narcolepsy type 1
Prevalence: 1-5/10000 (Europe),1-5/10000 (Norway),1-5/10000 (Finland),1-5/10000 (China); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
onset usually in second decade of life, although earlier and later onset have been reported
prevalence of approximately 1 in 2000 individuals
mutation in the hcrt gene has been identified in 1 patient


HPO:

32
narcolepsy 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 161400
Orphanet 59 ORPHA2073
ICD10 via Orphanet 34 G47.4
MESH via Orphanet 45 D009290
UMLS via Orphanet 74 C0027404 C0751362
MeSH 44 D009290
ICD10 33 G47.4

Summaries for Narcolepsy 1

OMIM : 57 Adie (1926) first delineated narcolepsy as a separate and specific entity. It is a sleep disorder characterized by attacks of disabling daytime drowsiness and low alertness. The normal physiologic components of rapid eye movement (REM) sleep, dreaming and loss of muscle tone, are separated and also occur while the subject is awake, resulting in half-sleep dreams and episodes of skeletal muscle paralysis and atonia (cataplexy and sleep paralysis). Unlike normal sleep, that of narcolepsy often begins with REM activity and the time taken to fall asleep is shorter than normal. In contrast to animal models, human narcolepsy is not a simple genetic disorder. Most human cases of narcolepsy are sporadic and carry a specific HLA haplotype (Peyron et al., 2000). Familial cases are the exception rather than the rule, and monozygotic twins show only partial concordance (25 to 31%) (Mignot, 1998). (161400)

MalaCards based summary : Narcolepsy 1, also known as narcolepsy-cataplexy syndrome, is related to sleep disorder and hypersomnia, and has symptoms including excessive daytime somnolence and hallucinations, hypnagogic. An important gene associated with Narcolepsy 1 is HCRT (Hypocretin Neuropeptide Precursor), and among its related pathways/superpathways are CTLA4 Signaling and MHC class II antigen presentation. Affiliated tissues include eye, skeletal muscle and hypothalamus, and related phenotypes are obesity and hallucinations

UniProtKB/Swiss-Prot : 75 Narcolepsy 1: Neurological disabling sleep disorder, characterized by excessive daytime sleepiness, sleep fragmentation, symptoms of abnormal rapid- eye-movement (REM) sleep, cataplexy, hypnagogic hallucinations, and sleep paralysis. Cataplexy is a sudden loss of muscle tone triggered by emotions, which is the most valuable clinical feature used to diagnose narcolepsy. Human narcolepsy is primarily a sporadically occurring disorder but familial clustering has been observed.

Related Diseases for Narcolepsy 1

Diseases in the Narcolepsy family:

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

Diseases related to Narcolepsy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 sleep disorder 30.3 MOG HCRT
2 hypersomnia 30.0 HLA-DRB1 HLA-DQB1 HCRT
3 idiopathic hypersomnia 29.8 HLA-DQB1 HCRT
4 multiple sclerosis 29.4 MOG HLA-DRB1 HLA-DQB1
5 autoimmune disease 29.4 MOG HLA-DRB1 HLA-DQB1
6 narcolepsy 28.6 TNFSF4 P2RY11 MOG HLA-DRB1 HLA-DQB1 HCRT
7 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 11.6
8 narcolepsy 7 11.4
9 rheumatoid arthritis 10.3
10 arthritis 10.3
11 precocious puberty 10.2
12 body mass index quantitative trait locus 1 10.1
13 internuclear ophthalmoplegia 10.1 MOG HCRT
14 autoimmune disease of peripheral nervous system 10.1 MOG HCRT
15 epilepsy 10.0
16 recurrent hypersomnia 10.0 HLA-DQB1 HCRT
17 kleine-levin hibernation syndrome 10.0 HLA-DQB1 HCRT
18 optic neuritis 10.0 MOG HLA-DRB1
19 limbic encephalitis with lgi1 antibodies 10.0 HLA-DRB1 HLA-DQB1
20 primary progressive multiple sclerosis 9.9 MOG HLA-DRB1
21 autoimmune polyglandular syndrome type 3 9.9 HLA-DRB1 HLA-DQB1
22 type ii mixed cryoglobulinemia 9.9 HLA-DRB1 HLA-DQB1
23 lichen planopilaris 9.9 HLA-DRB1 HLA-DQB1
24 metal allergy 9.9 HLA-DRB1 HLA-DQB1
25 recurrent respiratory papillomatosis 9.9 HLA-DRB1 HLA-DQB1
26 beryllium disease 9.9 HLA-DRB1 HLA-DQB1
27 chronic beryllium disease 9.9 HLA-DRB1 HLA-DQB1
28 lichen sclerosus 9.9 HLA-DRB1 HLA-DQB1
29 pityriasis rosea 9.9 HLA-DRB1 HLA-DQB1
30 whipple disease 9.9 HLA-DRB1 HLA-DQB1
31 guillain-barre syndrome 9.9 HLA-DQB1 HCRT
32 osteonecrosis of the jaw 9.9 HLA-DRB1 HLA-DQB1
33 microscopic colitis 9.9 HLA-DRB1 HLA-DQB1
34 idiopathic bronchiectasis 9.9 HLA-DRB1 HLA-DQB1
35 peanut allergy 9.9 HLA-DRB1 HLA-DQB1
36 autoimmune disease of central nervous system 9.9 MOG HLA-DRB1
37 oligoarticular juvenile idiopathic arthritis 9.9 HLA-DRB1 HLA-DQB1
38 glaucomatocyclitic crisis 9.9 HLA-DRB1 HLA-DQB1
39 geographic tongue 9.9 HLA-DRB1 HLA-DQB1
40 autoimmune disease of the nervous system 9.9 MOG HLA-DRB1
41 panuveitis 9.9 HLA-DRB1 HLA-DQB1
42 focal epithelial hyperplasia 9.9 HLA-DRB1 HLA-DQB1
43 neuromyelitis optica 9.9 MOG HLA-DRB1 HCRT
44 ocular cicatricial pemphigoid 9.9 HLA-DRB1 HLA-DQB1
45 paraneoplastic pemphigus 9.9 HLA-DRB1 HLA-DQB1
46 schizophrenia 9.9
47 intracranial hypertension, idiopathic 9.9
48 epilepsy, idiopathic generalized 9.9
49 autoimmune disease 1 9.9
50 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9

Graphical network of the top 20 diseases related to Narcolepsy 1:



Diseases related to Narcolepsy 1

Symptoms & Phenotypes for Narcolepsy 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
excessive daytime sleepiness
cataplexy, paroxysmal weakness or paralysis
cataplexy often triggered by strong emotions
attacks of disabling daytime drowsiness and low alertness
mean sleep latency is less than 5 to 8 minutes
more
Laboratory Abnormalities:
hla-dqw6 association (dqb1*0602)
decreased levels of csf hypocretin (hcrt, )

Growth Weight:
rapid weight gain may occur


Clinical features from OMIM:

161400

Human phenotypes related to Narcolepsy 1:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
2 hallucinations 59 32 hallmark (90%) Very frequent (99-80%) HP:0000738
3 abnormality of vision 59 32 frequent (33%) Frequent (79-30%) HP:0000504
4 slurred speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0001350
5 syncope 59 32 occasional (7.5%) Occasional (29-5%) HP:0001279
6 transient global amnesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0010534
7 abnormal rapid eye movement sleep 59 32 frequent (33%) Frequent (79-30%) HP:0002494
8 excessive daytime sleepiness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002189
9 cataplexy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002524
10 sleep disturbance 59 Very frequent (99-80%)
11 abnormality of the eye 59 Frequent (79-30%)
12 narcolepsy 32 HP:0030050
13 hypnagogic hallucinations 32 HP:0002519
14 hypnopompic hallucinations 32 HP:0006896
15 paroxysmal drowsiness 32 HP:0002330

UMLS symptoms related to Narcolepsy 1:


excessive daytime somnolence, hallucinations, hypnagogic

Drugs & Therapeutics for Narcolepsy 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Role of the Circadian System in Neurological Sleep-wake Disorders Recruiting NCT03356938 Not Applicable
2 Microglial Activation in Narcolepsy Type 1: Positron Emission Tomography (PET) Study in [18F] DPA-714 Not yet recruiting NCT03754348 Not Applicable

Search NIH Clinical Center for Narcolepsy 1

Genetic Tests for Narcolepsy 1

Genetic tests related to Narcolepsy 1:

# Genetic test Affiliating Genes
1 Narcolepsy 1 29 HCRT
2 Cataplexy and Narcolepsy 29

Anatomical Context for Narcolepsy 1

MalaCards organs/tissues related to Narcolepsy 1:

41
Eye, Skeletal Muscle, Hypothalamus, Tongue, T Cells

Publications for Narcolepsy 1

Articles related to Narcolepsy 1:

# Title Authors Year
1
Cases of Narcolepsy-Cataplexy Syndrome Following H1N1 Vaccination. ( 28360640 )
2014
2
Transient narcolepsy-cataplexy syndrome after discontinuation of the antidepressant venlafaxine. ( 15910521 )
2005
3
Childhood onset of narcolepsy-cataplexy syndrome in Turkey: clinical and genetic study. ( 12458808 )
2002
4
Treatment of narcolepsy-cataplexy syndrome with the new selective and reversible MAO-A inhibitor brofaromine-a pilot study. ( 10607101 )
1993
5
The neurobiology of narcolepsy-cataplexy syndrome. ( 11980061 )
1991
6
NARCOLEPSY. 1. NOCTURNAL DREAM FREQUENCY IN ADOLESCENTS. ( 14118068 )
1964
7
Psychological factors in the narcolepsy-cataplexy syndrome. ( 13634301 )
1959
8
A case of the narcolepsy-cataplexy syndrome. ( 13460890 )
1957

Variations for Narcolepsy 1

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

75
# Symbol AA change Variation ID SNP ID
1 HCRT p.Leu16Arg VAR_011633 rs104894574

ClinVar genetic disease variations for Narcolepsy 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HCRT NM_001524.1(HCRT): c.47T> G (p.Leu16Arg) single nucleotide variant Pathogenic rs104894574 GRCh37 Chromosome 17, 40336521: 40336521
2 HCRT NM_001524.1(HCRT): c.47T> G (p.Leu16Arg) single nucleotide variant Pathogenic rs104894574 GRCh38 Chromosome 17, 42184503: 42184503
3 PPAN NM_020230.6(PPAN): c.190-151C> T single nucleotide variant association rs1551570 GRCh38 Chromosome 19, 10107354: 10107354
4 PPAN NM_020230.6(PPAN): c.190-151C> T single nucleotide variant association rs1551570 GRCh37 Chromosome 19, 10218030: 10218030
5 P2RY11 NM_002566.4(P2RY11): c.-203A> G single nucleotide variant association rs12460842 GRCh38 Chromosome 19, 10111519: 10111519
6 P2RY11 NM_002566.4(P2RY11): c.-203A> G single nucleotide variant association rs12460842 GRCh37 Chromosome 19, 10222195: 10222195
7 P2RY11 NM_002566.4(P2RY11): c.*638G> A single nucleotide variant association rs2305795 GRCh38 Chromosome 19, 10115376: 10115376
8 P2RY11 NM_002566.4(P2RY11): c.*638G> A single nucleotide variant association rs2305795 GRCh37 Chromosome 19, 10226052: 10226052
9 EIF3G NM_003755.4(EIF3G): c.596-260T> C single nucleotide variant association rs3826784 GRCh38 Chromosome 19, 10116334: 10116334
10 EIF3G NM_003755.4(EIF3G): c.596-260T> C single nucleotide variant association rs3826784 GRCh37 Chromosome 19, 10227010: 10227010

Expression for Narcolepsy 1

Search GEO for disease gene expression data for Narcolepsy 1.

Pathways for Narcolepsy 1

Pathways related to Narcolepsy 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.01 HLA-DQB1 HLA-DRB1
2 10.81 CTSH HLA-DQB1 HLA-DRB1
3 10.7 HLA-DQB1 HLA-DRB1

GO Terms for Narcolepsy 1

Cellular components related to Narcolepsy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endocytic vesicle membrane GO:0030666 9.37 HLA-DQB1 HLA-DRB1
2 ER to Golgi transport vesicle membrane GO:0012507 9.32 HLA-DQB1 HLA-DRB1
3 transport vesicle membrane GO:0030658 9.26 HLA-DQB1 HLA-DRB1
4 clathrin-coated endocytic vesicle membrane GO:0030669 9.16 HLA-DQB1 HLA-DRB1
5 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 8.96 HLA-DQB1 HLA-DRB1
6 MHC class II protein complex GO:0042613 8.62 HLA-DQB1 HLA-DRB1

Biological processes related to Narcolepsy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 interferon-gamma-mediated signaling pathway GO:0060333 9.43 HLA-DQB1 HLA-DRB1
2 T cell receptor signaling pathway GO:0050852 9.43 HLA-DQB1 HLA-DRB1 MOG
3 phospholipase C-activating G protein-coupled receptor signaling pathway GO:0007200 9.4 HCRT P2RY11
4 negative regulation of interferon-gamma production GO:0032689 9.37 HLA-DRB1 TNFSF4
5 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.32 HLA-DQB1 HLA-DRB1
6 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.16 HLA-DQB1 HLA-DRB1
7 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 8.96 HLA-DQB1 HLA-DRB1
8 antigen processing and presentation GO:0019882 8.8 CTSH HLA-DQB1 HLA-DRB1

Molecular functions related to Narcolepsy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 virus receptor activity GO:0001618 9.16 HLA-DRB1 MOG
2 peptide antigen binding GO:0042605 8.96 HLA-DQB1 HLA-DRB1
3 MHC class II receptor activity GO:0032395 8.62 HLA-DQB1 HLA-DRB1

Sources for Narcolepsy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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