Narcolepsy 1 - CISMeF

Preferred Label : Narcolepsy 1;

Symbol : NRCLP1;

CISMeF acronym : NRCLP1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Narcoleptic syndrome 1;

Included titles and symbols : Cataplexy;

Description : 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). - Genetic Heterogeneity of Narcolepsy Additional narcolepsy loci have been mapped to chromosomes 4 (NRCLP2; 605841), 21q (NRCLP3; 609039), 22q13 (NRCLP4; 612417), 14q11 (NRCLP5; 612851), and 19p13.2 (NRCLP6; 614223). NRCLP7 (614250) is caused by mutation in the MOG gene (159465) on chromosome 6p22. Resistance to narcolepsy is associated with minor alleles of a SNP and a marker in the NLC1A gene (610259) on chromosome 21q22.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the hypocretin gene (HCRT, 602358.0001);

Laboratory abnormalities : Decreased levels of CSF hypocretin (HCRT, 602358); HLA-DQw6 association (DQB1*0602);

Prefixed ID : #161400;

Details

Origin ID

161400;

UMLS CUI

C1834372;

Automatic exact mappings (from CISMeF team)
- CATAPLEXY [WHO-ART Included Term]
- Cataplexy [HPO term]
- Cataplexy [PASCAL descriptor]
- Cataplexy [MedDRA Preferred Term]
- Cataplexy [NCIt concept]
- Cataplexy (disorder) [SNOMED CT concept]
- HCRT wt Allele [NCIt concept]
- Narcolepsy type 1 [ORDO Disease]
- Narcolepsy, Type 1 [ICD-11 Subcategory]
- cataplexy [MeSH Descriptor]
- cataplexy [MeSH concept]
- cataplexy [SNOMED Notion]
Broader ORDO disease(s)
- Narcolepsy type 1 [ORDO Disease]
Currated CISMeF NLP mapping
- narcolepsy 1 [MeSH concept]
- narcolepsy 1 [MeSH Supplementary Concept]
DO Cross reference
- narcolepsy [DO Concept]
Genes related to phenotype
- Hypocretin [OMIM gene]
HPO term(s)
- Abnormal rapid eye movement sleep [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cataplexy [HPO term]
- Cataplexy often triggered by strong emotions [HPO term]
- Cataplexy, paroxysmal weakness or paralysis [HPO term]
- Excessive daytime sleepiness [HPO term]
- Excessive daytime somnolence [HPO term]
- Heterogeneous [HPO term]
- Hypnagogic hallucinations [HPO term]
- Hypnopompic hallucinations [HPO term]
- Narcolepsy [HPO term]
- Paroxysmal drowsiness [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Narcolepsy type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- narcolepsy 1 [MeSH Supplementary Concept]
- narcolepsy 1 [MeSH concept]
Validated automatic mappings to NTBT
- cataplexy [Disease (Nov.)]

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