NARCOLEPSY 1

General Information (adopted from Orphanet):

Synonyms, Signs: NARCOLEPTIC SYNDROME 1 CATAPLEXY, INCLUDED
NRCLP1
Number of Symptoms 15
OrphanetNr:
OMIM Id: 161400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002494) Abnormal rapid eye movement sleep 4 / 7739
2
(HPO:0002519) Hypnagogic hallucinations 3 / 7739
3
(HPO:0002189) Excessive daytime sleepiness 8 / 7739
4
(HPO:0006896) Hypnopompic hallucinations 2 / 7739
5
(OMIM) Cataplexy, paroxysmal weakness or paralysis 2 / 7739
6
(OMIM) Decreased levels of CSF hypocretin (HCRT, 602358) 2 / 7739
7
(OMIM) Rapid weight gain may occur 1 / 7739
8
(OMIM) Cataplexy often triggered by strong emotions 2 / 7739
9
(OMIM) Loss of hypocretin (orexin)-secreting neurons in the hypothalamus 1 / 7739
10
(OMIM) Milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy 2 / 7739
11
(OMIM) Sleep paralysis at beginning or end of sleep period (in 60% of patients) 1 / 7739
12
(OMIM) Mean sleep latency is less than 5 to 8 minutes 1 / 7739
13
(OMIM) HLA-DQw6 association (DQB1*0602) 1 / 7739
14
(OMIM) Attacks of disabling daytime drowsiness and low alertness 2 / 7739
15
(OMIM) Nocturnal sleep disruption 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM In 3 generations of a family, Daly and Yoss (1959) found 12 definite and 3 possible cases. Whereas about two-thirds of all cases of narcolepsy (sleeping attacks) are associated with cataplexy (paroxysmal attacks of weakness or frank paralysis, ...
Molecular genetics OMIM - HCRT Gene

Peyron et al. (2000) identified a dominant, presumably de novo mutation of the HCRT gene in a single case of early-onset narcolepsy (602358.0001).

- Association with the HLA Region on Chromosome ...

Population genetics OMIM The frequency in the United States is estimated to be between 0.050% and 0.067%.

Narcolepsy affects more than 1 in 2,000 individuals (Blouin et al., 2005).