Narcolepsy and cataplexy

G6_NARCOCATA

narcolepsy with cataplexy: 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).

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Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 G47.4
  • Hospital discharge: ICD-9 347[0-1]
  • Hospital discharge: ICD-8 34700
  • Cause of death: ICD-10 G47.4
  • Cause of death: ICD-9 347[0-1]
  • Cause of death: ICD-8 34700
  • KELA reimbursements: KELA codes 214

3 out of 7 registries used, show all original rules.

226

4. Check minimum number of events

None

226

5. Include endpoints

None

226

6. Filter based on genotype QC (FinnGen only)

218

Control definitions (FinnGen only)

Control exclude G6_EPIPAROX

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 G47
Name in latin Narcolepsia

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 1805 929 870
Only index persons 1664 880 784
Unadjusted period prevalence (%)
Whole population 0.03 0.03 0.02
Only index persons 0.03 0.03 0.03
Median age at first event (years)
Whole population 32.44 28.45 36.61
Only index persons 30.04 27.56 32.81

-FinnGen-

Key figures

All Female Male
Number of individuals 218 124 94
Unadjusted period prevalence (%) 0.05 0.05 0.05
Median age at first event (years) 37.14 31.01 45.23

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

No data

Mortality – FinRegistry

Association

Association between endpoint G6_NARCOCATA and mortality.

Females

No data

Males

Parameter HR [95% CI] p-value
G6_NARCOCATA 1.095 [0.82, 1.46] 0.53
Birth year 0.984 [0.97, 0.99] 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 52 out of 635 males with G6_NARCOCATA died.

Mortality risk

Mortality risk for people of age

years, who have G6_NARCOCATA.

N-year risk Females Males
1 No data 0.215%
5 No data 1.126%
10 No data 2.798%
15 No data 5.169%
20 No data 9.036%

Relationships between endpoints

Index endpoint: G6_NARCOCATA – Narcolepsy and cataplexy

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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