Trait: narcolepsy with cataplexy

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000614
Description Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions). [Orphanet: 2073]
Trait category
Neurological disorder
Synonyms 24 synonyms
  • GC)lineau disease
  • Gelineau Syndrome
  • Gelineau's Syndrome
  • Gelineau's Syndromes
  • Gelineaus Syndrome
  • Gélineau disease
  • Narcolepsy (disorder)
  • Narcolepsy NOS
  • Narcoleptic Syndrome
  • Narcoleptic Syndromes
  • Paroxysmal Sleep
  • Sleep, Paroxysmal
  • Syndrome, Gelineau
  • Syndrome, Gelineau's
  • Syndrome, Narcoleptic
  • Syndromes, Gelineau's
  • Syndromes, Narcoleptic
  • narcolepsy
  • narcolepsy cataplexy
  • narcolepsy cataplexy syndrome
  • narcolepsy with cataplexy
  • narcolepsy-cataplexy
  • narcolepsy-cataplexy syndrome
  • syndrome, narcolepsy cataplexy
Mapped term(s) 14 mapped terms
  • DOID:8986
  • GARD:0007162
  • ICD10:G47.4
  • ICD10:G47.41
  • ICD10:G47.419
  • ICD9:347.0
  • MONDO:0016158
  • MSH:D009290
  • MedDRA:10028713
  • NCIt:C84489
  • OMIM:161400
  • OMIM:614250
  • Orphanet:2073
  • SNOMEDCT:60380001

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000756 GRS3_Nar PGP000162
Ouyang H et al. Ann Transl Med (2020)
Narcolepsy narcolepsy with cataplexy 32 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000756/ScoringFiles/PGS000756.txt.gz
PGS000757 GRS4_Nar PGP000162
Ouyang H et al. Ann Transl Med (2020)
Narcolepsy narcolepsy with cataplexy 5 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000757/ScoringFiles/PGS000757.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance Metric ID
(PPM ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM001928 PGS000757
(GRS4_Nar)
PSS000966 PGP000162
Ouyang H et al. Ann Transl Med (2020)
Reported Trait: Incident narcolepsy OR: 1.442 [1.357, 1.534] AUROC: 0.736 Odds Ratio (OR, high vs low risk): 4.157 [3.224, 5.371] Gender Individuals with a high polygenic risk had a score ≥8. Individuals with a low polygenic risk had a score <6.
PPM001927 PGS000757
(GRS4_Nar)
PSS000966 PGP000162
Ouyang H et al. Ann Transl Med (2020)
Reported Trait: Incident narcolepsy OR: 1.449 [1.367, 1.536] Odds Ratio (OR, high vs low risk): 4.298 [3.378, 5.481] Individuals with a high polygenic risk had a score ≥8. Individuals with a low polygenic risk had a score <6.
PPM001926 PGS000756
(GRS3_Nar)
PSS000966 PGP000162
Ouyang H et al. Ann Transl Med (2020)
Reported Trait: Incident narcolepsy OR: 1.152 [1.12, 1.185] AUROC: 0.723 Odds Ratio (OR, high vs low risk): 2.602 [2.097, 3.232] Gender Individuals with a high polygenic risk had a score ≥28. Individuals with a low polygenic risk had a score <25.
PPM001925 PGS000756
(GRS3_Nar)
PSS000966 PGP000162
Ouyang H et al. Ann Transl Med (2020)
Reported Trait: Incident narcolepsy OR: 1.149 [1.119, 1.181] Odds Ratio (OR, high vs low risk): 2.586 [2.109, 3.173] Individuals with a high polygenic risk had a score ≥28. Individuals with a low polygenic risk had a score <25.

Evaluated Samples

PGS Sample Set ID
(PSS ID)
Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000966 The narcolepsy patients had either hypocretin deficiency (CSF hypocretin-1 ≤110 pg/mL) or clear-cut cataplexy and HLA-DQB1*06:02.
[
  • 903 cases
  • , 1,981 controls
]
,
44.94 % Male samples
East Asian
(Han Chinese, Chinese)