NRCLP1
MCID: NRC009
MIFTS: 49

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 56 73 29 13 6 71
Narcolepsy-Cataplexy Syndrome 73 71
Cataplexy and Narcolepsy 29 6
Narcoleptic Syndrome 1 56 73
Nrclp1 56 73
Narcolepsy with Cataplexy 17
Narcolepsy-Cataplexy 58
Narcolepsy, Type 1 39
Narcolepsy Type 1 58
Gelineau Disease 58

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

31
narcolepsy 1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 161400
OMIM Phenotypic Series 56 PS161400
MeSH 43 D009290
ICD10 32 G47.4
MESH via Orphanet 44 D009290
ICD10 via Orphanet 33 G47.4
UMLS via Orphanet 72 C0027404 C0751362
Orphanet 58 ORPHA2073
UMLS 71 C0751362 C1834372

Summaries for Narcolepsy 1

OMIM : 56 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 idiopathic hypersomnia 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 G-protein signaling N-RAS regulation pathway. The drugs Sodium oxybate and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include eye, skeletal muscle and brain, and related phenotypes are hallucinations and cataplexy

UniProtKB/Swiss-Prot : 73 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 158)
# Related Disease Score Top Affiliating Genes
1 idiopathic hypersomnia 30.6 HLA-DQB1 HCRT
2 hypersomnia 30.5 HLA-DRB1 HLA-DQB1 HCRT
3 sleep disorder 30.4 MOG HCRT
4 lyme disease 29.9 HLA-DRB1 HLA-DQB1
5 acute disseminated encephalomyelitis 29.5 MOG HLA-DRB1 HLA-DQB1 HCRT
6 guillain-barre syndrome 29.5 MOG HLA-DRB1 HLA-DQB1 HCRT
7 narcolepsy 26.8 ZNF365 TNFSF4 P2RY11 MOG HLA-DRB1 HLA-DQB1
8 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 12.1
9 narcolepsy 7 11.6
10 seizure disorder 10.4
11 visual epilepsy 10.3
12 constipation 10.3
13 precocious puberty 10.3
14 tremor 10.3
15 benign idiopathic neonatal seizures 10.3
16 head injury 10.2
17 hypotonia 10.2
18 kleine-levin hibernation syndrome 10.2 HLA-DQB1 HCRT
19 recurrent hypersomnia 10.2 HLA-DQB1 HCRT
20 helix syndrome 10.2
21 rem sleep behavior disorder 10.2
22 rare sleep disorder 10.2
23 parkinson disease, late-onset 10.2
24 rheumatoid arthritis 10.2
25 chorea, childhood-onset, with psychomotor retardation 10.2
26 sydenham chorea 10.2
27 exanthem 10.2
28 autosomal recessive disease 10.2
29 meningoencephalitis 10.2
30 polycystic ovary syndrome 10.2
31 hyperandrogenism 10.2
32 choreatic disease 10.2
33 hypothyroidism 10.2
34 alcohol use disorder 10.2
35 temporal lobe epilepsy 10.2
36 fibromyalgia 10.2
37 eating disorder 10.2
38 hyperadrenalism 10.2
39 paresthesia 10.2
40 limbic encephalitis with lgi1 antibodies 10.2 HLA-DRB1 HLA-DQB1
41 autoimmune polyglandular syndrome type 3 10.2 HLA-DRB1 HLA-DQB1
42 type ii mixed cryoglobulinemia 10.2 HLA-DQB1 HLA-DRB1
43 moyamoya angiopathy 10.2 HLA-DRB1 HLA-DQB1
44 primary adrenal insufficiency 10.1 HLA-DRB1 HLA-DQB1
45 recurrent respiratory papillomatosis 10.1 HLA-DRB1 HLA-DQB1
46 beryllium disease 10.1 HLA-DRB1 HLA-DQB1
47 apple allergy 10.1 HLA-DRB1 HLA-DQB1
48 chronic beryllium disease 10.1 HLA-DRB1 HLA-DQB1
49 autoimmune disease 10.1
50 body mass index quantitative trait locus 1 10.1

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



Diseases related to Narcolepsy 1

Symptoms & Phenotypes for Narcolepsy 1

Human phenotypes related to Narcolepsy 1:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hallucinations 58 31 hallmark (90%) Very frequent (99-80%) HP:0000738
2 cataplexy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002524
3 excessive daytime sleepiness 58 31 hallmark (90%) Very frequent (99-80%) HP:0002189
4 transient global amnesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010534
5 abnormality of vision 58 31 frequent (33%) Frequent (79-30%) HP:0000504
6 abnormal rapid eye movement sleep 58 31 frequent (33%) Frequent (79-30%) HP:0002494
7 slurred speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001350
8 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
9 syncope 58 31 occasional (7.5%) Occasional (29-5%) HP:0001279
10 sleep disturbance 58 Very frequent (99-80%)
11 abnormality of the eye 58 Frequent (79-30%)
12 narcolepsy 31 HP:0030050
13 paroxysmal drowsiness 31 HP:0002330
14 hypnagogic hallucinations 31 HP:0002519
15 hypnopompic hallucinations 31 HP:0006896

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
excessive daytime sleepiness
hypnagogic hallucinations
hypnopompic hallucinations
cataplexy, paroxysmal weakness or paralysis
cataplexy often triggered by strong emotions
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

UMLS symptoms related to Narcolepsy 1:


excessive daytime somnolence, hallucinations, hypnagogic

Drugs & Therapeutics for Narcolepsy 1

Drugs for Narcolepsy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium oxybate Approved Phase 4 502-85-2 5360545
2 Anesthetics Phase 4
3 Anesthetics, General Phase 4
4 Anesthetics, Intravenous Phase 4
5 Pharmaceutical Solutions Phase 4
6
Sodium citrate Approved, Investigational Phase 3 68-04-2
7
Modafinil Approved, Investigational Phase 3 68693-11-8 4236
8
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
9 Citrate Phase 3
10 Central Nervous System Stimulants Phase 3
11
Reboxetine Approved, Experimental Phase 2 98769-81-4, 71620-89-8 123628 65856
12
Histamine Approved, Investigational Phase 2 51-45-6 774
13
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
14
Clarithromycin Approved Phase 2 81103-11-9 84029
15
Dextroamphetamine Approved, Illicit Phase 2 51-64-9 5826
16
Amphetamine Approved, Illicit, Investigational Phase 2 300-62-9 5826 3007
17 Antidepressive Agents Phase 2
18 Psychotropic Drugs Phase 2
19
Histamine Phosphate Phase 2 51-74-1 65513
20 Cytochrome P-450 Enzyme Inhibitors Phase 2
21 Anti-Infective Agents Phase 2
22 Anti-Bacterial Agents Phase 2
23 Antibiotics, Antitubercular Phase 2
24 Cytochrome P-450 CYP3A Inhibitors Phase 2
25 Adrenergic Agents Phase 2
26 adderall Phase 2
27 Sympathomimetics Phase 2
28 Neurotransmitter Agents Phase 2
29 Dopamine Agents Phase 2
30 Vaccines
31 Immunologic Factors
32 N-Methyl-3,4-methylenedioxyamphetamine

Interventional clinical trials:

(show all 31)
# Name Status NCT ID Phase Drugs
1 Does Xyrem Influence Brain Dopamine in Patients With Narcolepsy? A PET Imaging Investigation Completed NCT02637076 Phase 4 Xyrem
2 Single Center, Therapeutic Exploratory Clinical Trial to Evaluate the Safety of Sodium Oxybate (Xyrem) 500 mg/mL Oral Solution on Potential Endocrine Changes at Currently Labeled Therapeutic Dose Regimens (4.5 - 9 g/Day Divided Into Two Equal Doses) During 12 Weeks of Treatment of Cataplexy in Adult Patients With Narcolepsy. Completed NCT00345800 Phase 4 Sodium Oxybate (Xyrem)
3 A Multicenter Study of the Efficacy and Safety of Xyrem With an Open- Label Pharmacokinetic Evaluation and Safety Extension in Pediatric Subjects With Narcolepsy With Cataplexy Completed NCT02221869 Phase 3 Xyrem
4 A Randomized, Double Blind Study Comparing Pitolisant (BF2.649) to Placebo in Two Parallel Groups on the Weekly Frequency of Cataplexy Attacks and Excessive Daytime Sleepiness in Narcoleptic Patients With Cataplexy. Completed NCT01800045 Phase 3 Pitolisant;Placebo
5 A Double-Blind, Placebo-Controlled, Randomized-Withdrawal, Multicenter Study of the Efficacy and Safety of JZP-258 in Subjects With Narcolepsy With Cataplexy Completed NCT03030599 Phase 3 JZP-258
6 A Double-blind, Randomized, Placebo Controlled, Two Arm Multi-center Study to Assess the Efficacy and Safety of a Once Nightly Formulation of Sodium Oxybate for Extended-Release Oral Suspension (FT218) for the Treatment of Excessive Daytime Sleepiness and Cataplexy in Subjects With Narcolepsy Completed NCT02720744 Phase 3 Sodium Oxybate;Placebo
7 Prospective, Randomized, Double-blind Study, Parallel-group, Multi-center Trial Assessing the Effects of Escalating Doses of BF2.649 and BF2.649 Add on Modafinil on Cataplexy in Patients With Narcolepsy Completed NCT01067235 Phase 3 BF2.649;BF2.649 add on Modafinil
8 Prospective, Randomized, Double-blind Study, Placebo-controlled, Parallel-group, Multi-center Trial Assessing the Effects of BF2.649 in Treatment of Excessive Daytime Sleepiness in Narcolepsy Completed NCT01067222 Phase 3 BF2.649;Modafinil;Placebo
9 A 12-Month, Open-Label, Flexible-Dosage (100 to 250 mg/Day) Study of the Safety and Efficacy of CEP-10953 in the Treatment of Patients With Excessive Sleepiness Associated With Narcolepsy, Obstructive Sleep Apnea/Hypopnea Syndrome, or Chronic Shift Work Sleep Disorder (With an Open-Ended Extension Period) Completed NCT00078312 Phase 3 CEP-10953 (Armodafinil)
10 Long-Term, Open-Label, Multi-Center Extension Trial of Xyrem® (Sodium Oxybate) Oral Solution for the Treatment of Narcolepsy Completed NCT00132873 Phase 3 Xyrem (sodium oxybate) oral solution
11 An Open-label Naturalistic Pragmatic Study to Assess the Long Term Safety of BF2.649 (Pitolisant) in the Treatment of Excessive Daytime Sleepiness (EDS) in Narcolepsy (12 Months Follow-up, Followed by a Prolonged Follow up) Completed NCT01399606 Phase 3 BF2.649
12 A Multi-center, Randomized, Double-blind, Placebo-controlled, 3-Week Crossover Study to Assess the Efficacy and Safety of AXS-12 in Subjects With Cataplexy and Excessive Daytime Sleepiness in Narcolepsy Completed NCT03881852 Phase 2 AXS-12 (Reboxetine);Placebo
13 A Phase 2, Double-blind, Placebo-controlled, Parallel-group, Multicenter Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of 2 mg and 4 mg SUVN-G3031 Compared to Placebo in Patients With Narcolepsy With and Without Cataplexy Recruiting NCT04072380 Phase 2 SUVN-G3031;Placebo
14 A Randomized, Double-Blind, Placebo-Controlled, Multiple Rising Oral Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of TAK-994 in Patients With Narcolepsy With or Without Cataplexy (Narcolepsy Type 1 or Narcolepsy Type 2) Recruiting NCT04096560 Phase 2 TAK-994;Placebo
15 Double Blind, Multicentre, Randomized, Placebo-controlled Trial to Evaluate Safety and Efficacy of Pitolisant in Children From 6 to Less Than 18 Years With Narcolepsy With/Without Cataplexy, Followed by a Prolonged Open-label Period Recruiting NCT02611687 Phase 2 pitolisant;Placebo
16 Antibiotic-mediated Improvements in Vigilance: Mechanisms of Action of Clarithromycin in Hypersomnia Syndromes Recruiting NCT04026958 Phase 2 Clarithromycin;Placebo
17 Informing Treatment Decisions in the Central Disorders of Hypersomnolence: A Pragmatic Clinical Trial of Modafinil Versus Amphetamines Recruiting NCT03772314 Phase 2 Modafinil;Amphetamine-Dextroamphetamine
18 Phase 1, Randomized, Double-Blind, Placebo-Controlled, Single-Dose Escalation Study to Assess the Tolerability and Pharmacokinetics of APD916 Administered to Healthy Adult Subjects Completed NCT01093508 Phase 1 APD916
19 Exploration of the Reward System by Functional MRI in Narco-cataplexy Patients With and Without REM Sleep Behavior Disorder Unknown status NCT03425214
20 Risk of Narcolepsy Associated With Administration of Inactivated Adjuvanted (AS03) A/H1N1 Pandemic Influenza Vaccine in Quebec Completed NCT01394614
21 Narcolepsy Protect Against Alzheimer's Disease? Protective Role of Low Rates of Orexin on the Occurrence of Intracerebral Amyloid Deposits Characteristic of the Alzheimer's Disease: A Pilot Study Completed NCT03378453
22 A Placebo Control, Double Blind, Cross Over Study of Modafinil in Patients With Narcolepsy Completed NCT00174174 Modafinil
23 Post Marketing Non-interventional Surveillance Pharmacoepidemiology Study (PMSS) to Evaluate Long-term Safety, Tolerability and Compliance in Administration of Xyrem® (Sodium Oxybate) Oral Solution in Patients Who Receive Treatment With This Medication in Regular Clinical Practice. Completed NCT00244465
24 Cardiovascular Variability and Heart Rate Arousal Response in Idiopathic Hypersomnia Completed NCT02913651
25 Multimodal Characterization of the Prosocial and Prosexual Effects of GHB Assessing Behavior, fMRI, EEG, and Neuroendocrine Mechanisms Completed NCT02342366 GHB 35 mg/kg p.o.;GHB 20 mg/kg p.o.
26 Microglial Activation in Narcolepsy Type 1: Positron Emission Tomography (PET) Study in [18F] DPA-714 Recruiting NCT03754348
27 The Role of the Circadian System in Neurological Sleep-wake Disorders: Assessment of Circadian and Homeostatic Sleep-wake Regulation and Vigilance With a Poly-nap Protocol Recruiting NCT03356938
28 Constitution of a Clinical, Neurophysiological and Biological Cohort for Chronic Sleep Disorders Responsible of Hypersomnolence Recruiting NCT03998020
29 Establishing Alpha-synuclein Real Time - Quaking Induced Conversion (RT-QuIC) Assay as a Diagnostic Technique in REM Sleep Behaviour Disorder (RBD) Not yet recruiting NCT04266457
30 Mind-Body Approach to Improve Health-Related Quality of Life for People With Narcolepsy Not yet recruiting NCT04306952
31 An Open Label Expanded Access Program Intended to Provide Treatment With HBS-101 (Pitolisant) to Adult Patients in the U.S. With Excessive Daytime Sleepiness Associated With Narcolepsy With or Without Cataplexy No longer available NCT03433131 Pitolisant

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:

40
Eye, Skeletal Muscle, Brain, Hypothalamus, Heart, Testes, T Cells

Publications for Narcolepsy 1

Articles related to Narcolepsy 1:

(show top 50) (show all 52)
# Title Authors PMID Year
1
A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. 6 56
10973318 2000
2
T cells in patients with narcolepsy target self-antigens of hypocretin neurons. 56
30232458 2018
3
A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy. 6
21907016 2011
4
Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. 56
20711174 2010
5
Normalization of hypocretin-1 in narcolepsy after intravenous immunoglobulin treatment. 56
19841387 2009
6
Narp immunostaining of human hypocretin (orexin) neurons: loss in narcolepsy. 56
16135770 2005
7
Concomitant loss of dynorphin, NARP, and orexin in narcolepsy. 56
16247044 2005
8
CSF hypocretin-1 (orexin-A) levels in childhood narcolepsy and neurologic disorders. 56
15623725 2004
9
A functional autoantibody in narcolepsy. 56
15589310 2004
10
A monozygotic twin pair discordant for narcolepsy and CSF hypocretin-1. 56
15184641 2004
11
Monozygotic twins concordant for narcolepsy-cataplexy without any detectable abnormality in the hypocretin (orexin) pathway. 56
15081654 2004
12
Crystal structure of HLA-DQ0602 that protects against type 1 diabetes and confers strong susceptibility to narcolepsy. 56
14769912 2004
13
Age at onset of narcolepsy in two large populations of patients in France and Quebec. 56
11739821 2001
14
Normal plasma levels of orexin A (hypocretin-1) in narcoleptic patients. 56
11425946 2001
15
Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups. 56
11179016 2001
16
Reduced number of hypocretin neurons in human narcolepsy. 56
11055430 2000
17
Hypocretin (orexin) deficiency in human narcolepsy. 56
10615891 2000
18
Let sleeping dogs lie? 56
10471483 1999
19
Narcolepsy: a key role for hypocretins (orexins) 56
10481905 1999
20
Narcolepsy in orexin knockout mice: molecular genetics of sleep regulation. 56
10481909 1999
21
The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. 56
10458611 1999
22
Genetic studies in narcolepsy, a disorder affecting REM sleep. 56
9987919 1999
23
Genetic and familial aspects of narcolepsy. 56
9484418 1998
24
The hypocretins: hypothalamus-specific peptides with neuroexcitatory activity. 56
9419374 1998
25
HLA DQB1*0602 is associated with cataplexy in 509 narcoleptic patients. 56
9456467 1997
26
Pharmacological aspects of human and canine narcolepsy. 56
9185233 1997
27
Autonomic nervous system function in narcolepsy. 56
10607117 1994
28
DQ (rather than DR) gene marks susceptibility to narcolepsy. 56
1349071 1992
29
Genetic linkage of autosomal recessive canine narcolepsy with a mu immunoglobulin heavy-chain switch-like segment. 56
1673032 1991
30
Genetic heterogeneity in narcolepsy. 56
1969083 1990
31
Familial patterns of narcolepsy. 56
2574313 1989
32
Restriction fragment length polymorphism in canine narcolepsy. 56
2563354 1989
33
Narcolepsy-cataplexy in Israeli Jews is associated exclusively with the HLA DR2 haplotype. A study at the serological and genomic level. 56
2896649 1988
34
HLA and narcolepsy in a German population. 56
3641479 1986
35
Human histocompatibility leukocyte antigen (HLA) haplotype frequencies estimated from the data on HLA class I, II, and III antigens in 111 Japanese narcoleptics. 56
3865934 1985
36
HLA antigens in Japanese patients with narcolepsy. All the patients were DR2 positive. 56
6597978 1984
37
Genetic markers in narcolepsy. 56
6150235 1984
38
Canine model of narcolepsy: genetic and developmental determinants. 56
7199479 1982
39
Genetic factors in canine narcolepsy. 56
574310 1979
40
Genetic study of narcoleptic syndrome. 56
712757 1978
41
The inheritance of diurnal sleepiness as measured by pupillography. 56
5425102 1970
42
The pupillogram and narcolepsy. A method to measure decreased levels of wakefulness. 56
5387594 1969
43
Hereditary cataplexy. 56
6062995 1967
44
A comparative study of methods for automatic detection of rapid eye movement abnormal muscular activity in narcolepsy. 61
29530376 2018
45
Prevalence of sleep disorders among ESRD patients. 61
25959021 2015
46
Characteristics of REM sleep behavior disorder in childhood. 61
22505856 2012
47
Outcomes of CPAP treatment in a sleep laboratory specialized in neuropsychiatry. 61
15611589 2004
48
Sleep disturbance in chronic fatigue syndrome. 61
8510058 1993
49
The multiple sleep latency test in the diagnosis of sleep disorders. 61
2296743 1990
50
Narcolepsy associated with lesions of the diencephalon. 61
2812331 1989

Variations for Narcolepsy 1

ClinVar genetic disease variations for Narcolepsy 1:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PPAN NM_020230.7(PPAN):c.190-151C>TSNV association 180725 rs1551570 19:10218030-10218030 19:10107354-10107354
2 P2RY11 NM_020230.7(PPAN):c.*354A>GSNV association 180727 rs12460842 19:10222195-10222195 19:10111519-10111519
3 P2RY11 NM_003755.5(EIF3G):c.947+103C>TSNV association 180728 rs2305795 19:10226052-10226052 19:10115376-10115376
4 EIF3G NM_003755.5(EIF3G):c.596-260T>CSNV association 180730 rs3826784 19:10227010-10227010 19:10116334-10116334
5 HCRT NM_001524.1(HCRT):c.47T>G (p.Leu16Arg)SNV Pathogenic 7303 rs104894574 17:40336521-40336521 17:42184503-42184503

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

73
# Symbol AA change Variation ID SNP ID
1 HCRT p.Leu16Arg VAR_011633 rs104894574

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-DRB1 HLA-DQB1
2
Show member pathways
10.91 HLA-DRB1 HLA-DQB1
3 10.81 HLA-DRB1 HLA-DQB1 CTSH

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

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

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

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

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

Sources for Narcolepsy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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