Narcolepsy 1

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OMIM 57 161400 MedGen 42 C1834372 C0007384 MeSH 44 D009290

SNOMED-CT via HPO 69 263681008 69020003 44780000 46263000 69690008 60380001 more UMLS 73 C1834372 C0751362

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.

Clinical features from OMIM:

161400

Search NIH Clinical Center for Narcolepsy 1

Search GEO for disease gene expression data for Narcolepsy 1.