MCID: NRC009
MIFTS: 23

Narcolepsy 1

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

Aliases & Classifications for Narcolepsy 1

MalaCards integrated aliases for Narcolepsy 1:

Name: Narcolepsy 1 53 71 28 13 69
Narcolepsy-Cataplexy Syndrome 71 69
Narcoleptic Syndrome 1 53 71
Nrclp1 53 71

Characteristics:

OMIM:

53
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 heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 161400
MeSH 41 D009290

Summaries for Narcolepsy 1

OMIM : 53 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 narcolepsy, and has symptoms including excessive daytime sleepiness, abnormal rapid eye movement sleep and cataplexy. An important gene associated with Narcolepsy 1 is HCRT (Hypocretin Neuropeptide Precursor). Affiliated tissues include eye, skeletal muscle and hypothalamus.

UniProtKB/Swiss-Prot : 71 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:

# Related Disease Score Top Affiliating Genes
1 narcolepsy 9.7

Symptoms & Phenotypes for Narcolepsy 1

Symptoms via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
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
LaboratoryAbnormalities:
hla-dqw6 association (dqb1*0602)
decreased levels of csf hypocretin (hcrt, )

GrowthWeight:
rapid weight gain may occur


Clinical features from OMIM:

161400

Human phenotypes related to Narcolepsy 1:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 excessive daytime sleepiness 31 HP:0002189
2 abnormal rapid eye movement sleep 31 HP:0002494
3 cataplexy 31 HP:0002524
4 narcolepsy 31 HP:0030050
5 hypnagogic hallucinations 31 HP:0002519
6 hypnopompic hallucinations 31 HP:0006896
7 paroxysmal drowsiness 31 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

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 28 HCRT

Anatomical Context for Narcolepsy 1

MalaCards organs/tissues related to Narcolepsy 1:

38
Eye, Skeletal Muscle, Hypothalamus

Publications for Narcolepsy 1

Articles related to Narcolepsy 1:

# Title Authors Year
1
NARCOLEPSY. 1. NOCTURNAL DREAM FREQUENCY IN ADOLESCENTS. ( 14118068 )
1964

Variations for Narcolepsy 1

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

71
# 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

Expression for Narcolepsy 1

Search GEO for disease gene expression data for Narcolepsy 1.

Pathways for Narcolepsy 1

GO Terms for Narcolepsy 1

Sources for Narcolepsy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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