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NRCLP1
MCID: NRC009
MIFTS: 49

Narcolepsy 1 (NRCLP1)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Narcolepsy 1

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MalaCards integrated aliases for Narcolepsy 1:

Name: Narcolepsy 1 58 76 30 13 6 74
Narcolepsy-Cataplexy Syndrome 76 74
Cataplexy and Narcolepsy 30 6
Narcoleptic Syndrome 1 58 76
Nrclp1 58 76
Narcolepsy with Cataplexy 17
Narcolepsy-Cataplexy 60
Narcolepsy, Type 1 41
Narcolepsy Type 1 60
Gélineau Disease 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
narcolepsy 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 161400
MeSH 45 D009290
ICD10 34 G47.4
MESH via Orphanet 46 D009290
ICD10 via Orphanet 35 G47.4
UMLS via Orphanet 75 C0027404 C0751362
Orphanet 60 ORPHA2073
Sources

Summaries for Narcolepsy 1

About this section
OMIM : 58 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 idiopathic 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. The drugs Modafinil and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include eye, skeletal muscle and brain, and related phenotypes are hallucinations and transient global amnesia

UniProtKB/Swiss-Prot : 76 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.

Sources

Related Diseases for Narcolepsy 1

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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 80)
# Related Disease Score Top Affiliating Genes
1 sleep disorder 30.3 HCRT MOG
2 idiopathic hypersomnia 29.9 HCRT HLA-DQB1
3 hypersomnia 29.9 HCRT HLA-DQB1 HLA-DRB1
4 narcolepsy 2 29.7 HCRT HLA-DQB1 HLA-DRB1 ZNF365
5 multiple sclerosis 29.2 HLA-DQB1 HLA-DRB1 MOG
6 autoimmune disease 29.1 HLA-DQB1 HLA-DRB1 MOG
7 narcolepsy 28.4 HCRT HLA-DQB1 HLA-DRB1 MOG P2RY11
8 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 11.6
9 narcolepsy 7 11.5
10 rheumatoid arthritis 10.2
11 arthritis 10.2
12 fibromyalgia 10.2
13 encephalitis 10.2
14 precocious puberty 10.2
15 body mass index quantitative trait locus 1 10.1
16 autoimmune disease of peripheral nervous system 10.1 HCRT MOG
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
18 charcot-marie-tooth disease 10.1
19 holoprosencephaly 10.1
20 tick-borne encephalitis 10.1
21 tooth disease 10.1
22 myelitis 10.1
23 endometrial stromal sarcoma 10.1
24 movement disease 10.1
25 hyperthyroidism 10.1
26 eating disorder 10.1
27 transverse myelitis 10.1
28 internuclear ophthalmoplegia 10.1 HCRT MOG
29 epilepsy 10.0
30 recurrent hypersomnia 10.0 HCRT HLA-DQB1
31 kleine-levin hibernation syndrome 9.9 HCRT HLA-DQB1
32 limbic encephalitis with lgi1 antibodies 9.9 HLA-DQB1 HLA-DRB1
33 optic neuritis 9.9 HLA-DRB1 MOG
34 autoimmune polyglandular syndrome type 3 9.9 HLA-DQB1 HLA-DRB1
35 metal allergy 9.9 HLA-DQB1 HLA-DRB1
36 lichen planopilaris 9.9 HLA-DQB1 HLA-DRB1
37 type ii mixed cryoglobulinemia 9.9 HLA-DQB1 HLA-DRB1
38 beryllium disease 9.9 HLA-DQB1 HLA-DRB1
39 recurrent respiratory papillomatosis 9.9 HLA-DQB1 HLA-DRB1
40 chronic beryllium disease 9.9 HLA-DQB1 HLA-DRB1
41 lichen sclerosus 9.9 HLA-DQB1 HLA-DRB1
42 schizophrenia 9.9
43 intracranial hypertension, idiopathic 9.9
44 epilepsy, idiopathic generalized 9.9
45 autoimmune disease 1 9.9
46 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
47 restless legs syndrome 9.9
48 neurosarcoidosis 9.9
49 focal epilepsy 9.9
50 human immunodeficiency virus infectious disease 9.9

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



Diseases related to Narcolepsy 1
Sources

Symptoms & Phenotypes for Narcolepsy 1

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Human phenotypes related to Narcolepsy 1:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hallucinations 60 33 hallmark (90%) Very frequent (99-80%) HP:0000738
2 transient global amnesia 60 33 hallmark (90%) Very frequent (99-80%) HP:0010534
3 excessive daytime sleepiness 60 33 hallmark (90%) Very frequent (99-80%) HP:0002189
4 cataplexy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002524
5 abnormality of vision 60 33 frequent (33%) Frequent (79-30%) HP:0000504
6 abnormal rapid eye movement sleep 60 33 frequent (33%) Frequent (79-30%) HP:0002494
7 obesity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001513
8 slurred speech 60 33 occasional (7.5%) Occasional (29-5%) HP:0001350
9 syncope 60 33 occasional (7.5%) Occasional (29-5%) HP:0001279
10 sleep disturbance 60 Very frequent (99-80%)
11 abnormality of the eye 60 Frequent (79-30%)
12 narcolepsy 33 HP:0030050
13 hypnagogic hallucinations 33 HP:0002519
14 hypnopompic hallucinations 33 HP:0006896
15 paroxysmal drowsiness 33 HP:0002330

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Narcolepsy 1:


excessive daytime somnolence, hallucinations, hypnagogic
Sources

Drugs & Therapeutics for Narcolepsy 1

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

(show top 50) (show all 115)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Modafinil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 68693-11-8 4236
2
Dopamine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 62-31-7, 51-61-6 681
3
Sodium oxybate Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 502-85-2 5360545
4
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
5
Methylphenidate Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 113-45-1 4158
6
Ribavirin Approved Phase 4 36791-04-5 37542
7
Rasagiline Approved Phase 4 136236-51-6 3052776
8
Pramipexole Approved, Investigational Phase 4 104632-26-0 119570 59868
9 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
10 Central Nervous System Stimulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
11 Wakefulness-Promoting Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
12 Cytochrome P-450 CYP3A Inducers Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
13 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2
14 Analgesics Phase 4,Phase 3,Phase 1,Phase 2
15 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
16 Dopamine Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
17 Antiparkinson Agents Phase 4,Not Applicable
18 Pharmaceutical Solutions Phase 4,Phase 3,Early Phase 1
19 Anesthetics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
20 Anesthetics, General Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
21 Adjuvants, Anesthesia Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
22 Anesthetics, Intravenous Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
23 Excitatory Amino Acid Antagonists Phase 4
24 Excitatory Amino Acids Phase 4
25 Anti-Anxiety Agents Phase 4,Not Applicable
26 Antimanic Agents Phase 4
27 Psychotropic Drugs Phase 4,Phase 2,Not Applicable
28 Tranquilizing Agents Phase 4,Not Applicable
29 Anticonvulsants Phase 4
30 Sympathomimetics Phase 4,Phase 2,Phase 1
31 Autonomic Agents Phase 4,Phase 2,Phase 1
32 Protective Agents Phase 4,Phase 1,Phase 2,Not Applicable
33 Dopamine Uptake Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
34 Neurotransmitter Uptake Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
35 Cardiotonic Agents Phase 4
36 Neuroprotective Agents Phase 4,Not Applicable
37 Interferon-alpha Phase 4
38 interferons Phase 4
39 Antioxidants Phase 4
40 Monoamine Oxidase Inhibitors Phase 4
41 Dopamine agonists Phase 4
42
Morphine Approved, Investigational Phase 3 57-27-2 5288826
43
Histamine Approved, Investigational Phase 3,Phase 2 51-45-6 774
44
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
45
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
46 Analgesics, Opioid Phase 3
47 Narcotics Phase 3
48
Histamine Phosphate Phase 3,Phase 2 51-74-1 65513
49 Histamine H3 Antagonists Phase 3,Phase 2
50 Micronutrients Phase 3

Interventional clinical trials:

(show top 50) (show all 115)
# Name Status NCT ID Phase Drugs
1 Exploratory Clinical Study to Evaluate Sodium Oxybate (Xyrem) on Potential Endocrine Changes Completed NCT00345800 Phase 4 Sodium Oxybate (Xyrem)
2 Effectiveness of Modafinil for Treating Fatigue in Adults With HIV/AIDS Completed NCT00118378 Phase 4 Modafinil;Placebo
3 An Eight Week, Double-Blind Efficacy Study of Armodafinil Augmentation to Alleviate Fibromyalgia Fatigue Completed NCT00678691 Phase 4 armodafinil;placebo
4 Pain Expectations in Subjects With Osteoarthritis Completed NCT02155257 Phase 4 Modafinil;Gabapentin;Placebo
5 "Pilot Study of Armodafinil in Patients With Dementia With Lewy Bodies" Completed NCT01023672 Phase 4 Armodafinil
6 SWS And Daytime Functioning in Chronic FatiguE Syndrome (SAFFE) Completed NCT02055898 Phase 4 Sodium Oxybate
7 Xyrem and Brain Dopamine in Narcolepsy Recruiting NCT02637076 Phase 4 Xyrem
8 A Pilot of Methylphenidate in Mild Cognitive Impairment and Dementia Participants. Not yet recruiting NCT03811847 Phase 4 Methylphenidate Extended Release Oral Capsule
9 Modafinil Treatment for Sleep/Wake Disturbances in Older Adults Terminated NCT00626210 Phase 4 modafinil
10 Armodafinil for Patients Starting Hepatitis C Virus Treatment Terminated NCT01470651 Phase 4 Armodafinil;Sugar Pill
11 Evaluation of the Tolerance and Acceptability of Rasagiline in the Treatment of Early-stage Parkinson's Disease Terminated NCT01048229 Phase 4 Rasagiline;Pramipexole
12 Palliative Morphine With or Without Concurrent Modafinil Unknown status NCT01766323 Phase 3 Modafinil;Placebo
13 Effects of BF2.649 in the Treatment of Excessive Daytime Sleepiness in Narcolepsy. Completed NCT01638403 Phase 3 BF2.649;Vigil;palcebo
14 Study of PROVIGIL ® (Modafinil) Treatment in Children and Adolescents With Excessive Sleepiness Associated With Narcolepsy Completed NCT00107796 Phase 3 Modafinil
15 Trial Comparing Effects of Xyrem Taken Orally and Modafinil With Placebo in Treating Daytime Sleepiness in Narcolepsy Completed NCT00066170 Phase 3 Xyrem;Xyrem Placebo;Modafinil at established dose;Modafinil (Placebo)
16 PROVIGIL® (Modafinil) Treatment in Children and Adolescents With Excessive Sleepiness Associated With Narcolepsy or Obstructive Sleep Apnea/Hypopnea Syndrome Completed NCT00107848 Phase 3 Modafinil
17 "Twelve-week Study of the Safety and Efficacy of JZP-110 in the Treatment of Excessive Sleepiness in Narcolepsy" Completed NCT02348593 Phase 3 JZP-110
18 Trial of Xyrem® (Sodium Oxybate) for the Treatment of Narcolepsy Completed NCT00132873 Phase 3 Xyrem (sodium oxybate) oral solution
19 Safety and Efficacy Study of Armodafinil (CEP-10953) in the Treatment of Excessive Sleepiness Associated With Narcolepsy Completed NCT00078377 Phase 3 Armodafinil;Armodafinil;Placebo
20 Long Term Open Label Study in Narcolepsy With BF2.649 (Pitolisant) Completed NCT01399606 Phase 3 BF2.649
21 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
22 Assess the Safety and Effectiveness of PROVIGIL Treatment in Children and Adolescents With Excessive Sleepiness Completed NCT00214968 Phase 3 Modafinil
23 Extension Study of the Safety and Efficacy of Armodafinil in the Treatment of Patients With Excessive Sleepiness Completed NCT00228553 Phase 3 Armodafinil 100 to 250 mg/day
24 "A Long-Term Safety Study of JZP-110 in the Treatment of Excessive Sleepiness in Subjects With Narcolepsy or OSA" Completed NCT02348632 Phase 3 JZP-110
25 Armodafinil (CEP-10953) for Treatment of Narcolepsy, Obstructive Sleep Apnea/Hypopnea Syndrome, or Chronic Shift Work Sleep Disorder Completed NCT00078312 Phase 3 CEP-10953 (Armodafinil)
26 Safety and Efficacy of Xyrem Oral Solution (Sodium Oxybate) Compared With Placebo in Narcoleptic Patients Completed NCT00049803 Phase 3 sodium oxybate
27 Efficacy and Safety Study of BF2.649 in the Treatment of Excessive Daytime Sleepiness in Narcolepsy Completed NCT01067222 Phase 3 BF2.649;Modafinil;Placebo
28 Study to Assess Patient Reported Outcomes With Armodafinil Treatment for Excessive Sleepiness in Adults With Narcolepsy or Obstructive Sleep Apnea/Hypopnea Syndrome Completed NCT00228566 Phase 3 Armodafinil
29 Efficacy and Safety Study of BF2.649 and BF2.649 Add on Modafinil on Cataplexy in Patients With Narcolespy Completed NCT01067235 Phase 3 BF2.649;BF2.649 add on Modafinil
30 Patient Narcoleptic Treated With BF2.649 (Pitolisant) in add-on to Sodium Oxybate (HARMONY IV) Completed NCT01789398 Phase 3 BF2.649
31 Pitolisant to Assess Weekly Frequency of Cataplexy Attacks and EDS in Narcoleptic Patients (HARMONY CTP) Completed NCT01800045 Phase 3 Pitolisant;Placebo
32 Methylphenidate to Improve Balance and Walking in MS Completed NCT01896700 Phase 2, Phase 3 Methylphenidate;Placebo
33 Armodafinil (Nuvigil), Postoperative Recovery of OSA (Obstructive Sleep Apnea) and Obese Patients Completed NCT02478580 Phase 3 Nuvigil;Placebo
34 Modafinil in Cancer Related Fatigue Completed NCT01440621 Phase 3 Modafinil;Pyridoxine
35 "Twelve-week Study of the Safety and Efficacy of JZP-110 in the Treatment of Excessive Sleepiness in OSA" Completed NCT02348606 Phase 3 JZP-110
36 Sodium Oxybate for Treatment of Excessive Daytime Sleepiness and Cataplexy in Narcolepsy Recruiting NCT02720744 Phase 3 Sodium Oxybate;Placebo
37 A Study of the Efficacy and Safety of JZP-258 in Subjects With Narcolepsy With Cataplexy Active, not recruiting NCT03030599 Phase 3 JZP-258
38 Modafinil to Treat Fatigue in Post-Polio Syndrome Terminated NCT00067496 Phase 3 Modafinil
39 A Safety and Effectiveness Study of a Single Dose of JNJ-17216498 in Patients With Narcolepsy Completed NCT00424931 Phase 2 JNJ-17216498;JNJ-17216498;Modafinil
40 A Study of the Safety and Effectiveness of ADX-N05 for Excessive Daytime Sleepiness in Subjects With Narcolepsy Completed NCT01681121 Phase 2 ADX-N05;Placebo
41 A Study Of A Novel Compound For Excessive Daytime Sleepiness Associated With Narcolepsy Completed NCT01006122 Phase 2 Placebo;PF-03654746
42 A Study of Safety and Efficacy of BTD-001 in Treatment of Patients With Idiopathic Hypersomnia (IH) or Narcolepsy Type 2 Completed NCT02512588 Phase 2 BTD-001;Placebo
43 A Study of the Safety and Effectiveness of ADX-N05 in the Treatment of Excessive Daytime Sleepiness Completed NCT01485770 Phase 2 ADX-N05;Placebo
44 The Effect of Caffeine on the Narcoleptic Patients Completed NCT02832336 Phase 1, Phase 2 Vivarin;Fiber
45 Clarithromycin for the Treatment of Hypersomnia Completed NCT01146600 Phase 2 Clarithromycin followed by placebo;Placebo then Clarithromycin
46 Safety and Efficacy of THN102 on Sleepiness in Narcoleptic Patients Completed NCT02821715 Phase 2 Active comparator: Modafinil + placebo;THN102 300/3;THN102 300/27
47 Flumazenil for the Treatment of Primary Hypersomnia Completed NCT01183312 Phase 1, Phase 2 Flumazenil
48 Methylphenidate and Parkinson's Disease Completed NCT00359723 Phase 2 methylphenidate
49 Sodium Oxybate in Schizophrenia With Insomnia Completed NCT00594256 Phase 2 Sodium Oxybate
50 Safety, Tolerability and Abuse Liability Study of Intravenous NRP104 in Adults With Stimulant Abuse Histories Completed NCT00247572 Phase 2 NRP104

Search NIH Clinical Center for Narcolepsy 1

Sources

Genetic Tests for Narcolepsy 1

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Genetic tests related to Narcolepsy 1:

# Genetic test Affiliating Genes
1 Narcolepsy 1 30 HCRT
2 Cataplexy and Narcolepsy 30
Sources

Anatomical Context for Narcolepsy 1

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MalaCards organs/tissues related to Narcolepsy 1:

42
Eye, Skeletal Muscle, Brain, T Cells, Hypothalamus, Tongue
Sources

Publications for Narcolepsy 1

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Articles related to Narcolepsy 1:

# Title Authors Year
1
A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. ( 10973318 )
2000
2
NARCOLEPSY. 1. NOCTURNAL DREAM FREQUENCY IN ADOLESCENTS. ( 14118068 )
1964
Sources

Variations for Narcolepsy 1

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

76
# 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
Sources

Expression for Narcolepsy 1

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Search GEO for disease gene expression data for Narcolepsy 1.
Sources

Pathways for Narcolepsy 1

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

# Super pathways Score Top Affiliating Genes
1
CTLA4 Signaling 65
11.01 HLA-DQB1 HLA-DRB1
2
MHC class II antigen presentation 67
10.81 CTSH HLA-DQB1 HLA-DRB1
3
Staphylococcus aureus infection 38
10.79 HLA-DQB1 HLA-DRB1
Sources

GO Terms for Narcolepsy 1

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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

Sources for Narcolepsy 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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