MCID: NRC009
MIFTS: 23

Narcolepsy 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental 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
Narcoleptic Syndrome 1 57 75
Nrclp1 57 75
Narcolepsy, Type 1 40

Characteristics:

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:



External Ids:

OMIM 57 161400
MeSH 44 D009290

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 narcolepsy, and has symptoms including hallucinations, hypnagogic and excessive daytime somnolence. An important gene associated with Narcolepsy 1 is HCRT (Hypocretin Neuropeptide Precursor). Affiliated tissues include eye, skeletal muscle and hypothalamus, and related phenotypes are abnormal rapid eye movement sleep and excessive daytime sleepiness

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:

# Related Disease Score Top Affiliating Genes
1 narcolepsy 9.7

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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 abnormal rapid eye movement sleep 32 HP:0002494
2 excessive daytime sleepiness 32 HP:0002189
3 cataplexy 32 HP:0002524
4 narcolepsy 32 HP:0030050
5 hypnagogic hallucinations 32 HP:0002519
6 hypnopompic hallucinations 32 HP:0006896
7 paroxysmal drowsiness 32 HP:0002330

UMLS symptoms related to Narcolepsy 1:


hallucinations, hypnagogic, excessive daytime somnolence

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

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

Anatomical Context for Narcolepsy 1

MalaCards organs/tissues related to Narcolepsy 1:

41
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:

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

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
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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