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NRCLP1
MCID: NRC009
MIFTS: 47
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Narcolepsy 1 (NRCLP1)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Narcolepsy 1:
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:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Mental diseases
ICD10:
34
33
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OMIM
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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. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:161400Human phenotypes related to Narcolepsy 1:59 32 (show all 15)
UMLS symptoms related to Narcolepsy 1:excessive daytime somnolence, hallucinations, hypnagogic |
Interventional clinical trials:
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MalaCards organs/tissues related to Narcolepsy 1:41
Eye,
Skeletal Muscle,
Hypothalamus,
Tongue,
T Cells
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Articles related to Narcolepsy 1:
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Genes related to Narcolepsy 1 (8 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Narcolepsy 1:75
ClinVar genetic disease variations for Narcolepsy 1:6
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Cellular components related to Narcolepsy 1 according to GeneCards Suite gene sharing:
Biological processes related to Narcolepsy 1 according to GeneCards Suite gene sharing:
Molecular functions related to Narcolepsy 1 according to GeneCards Suite gene sharing:
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