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

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

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.

267

4. Check minimum number of events

None

267

5. Include endpoints

None

267

6. Filter based on genotype QC (FinnGen only)

267

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 267 155 112
Unadjusted period prevalence (%) 0.05 0.05 0.05
Median age at first event (years) 35.72 31.84 41.09

-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

CodeWAS (R11)

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.

Matched cohort

Matched cases
226
Matched controls
2261
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G47.4
ICD-10 Finland
Narcolepsy and cataplexy
+∞
274.6
204
*
N06BA07
ATC
modafinil; oral
701.7
96.0
88
*
G47.3
ICD-10 Finland
Sleep apnoea
70.9
87.4
98
24
214
Kela drug reimbursment
Severe and chronic narcolepsy
+∞
84.9
76
*
282
Kela drug reimbursment
Sodium oxybat
+∞
70.6
64
*
N06BA04
ATC
methylphenidate; oral
36.4
55.1
71
28
N07XX04
ATC
sodium oxybate; oral
+∞
42.0
39
*
TAB00
NOMESCO Finland
Lumbar puncture
21.6
40.1
60
37
G47.9
ICD-10 Finland
Sleep disorder, unspecified
42.5
31.8
39
11
G47.1
ICD-10 Finland
Disorders of excessive somnolence [hypersomnias]
+∞
29.9
28
*
R5140
NOMESCO Finland
Monitoring the use of the aid
23.3
27.2
39
20
N04BD01
ATC
selegiline; oral
101.8
25.3
27
*
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
10.3
23.1
47
56
N06AX16
ATC
venlafaxine; oral
5.9
21.0
65
145
3471A
ICD-9 Finland
Cataplexy and narcolepsy[NARCOLEPSIA]
+∞
20.1
19
*
R53
ICD-10 Finland
Malaise and fatigue
4.3
16.7
72
223
N06AA04
ATC
clomipramine; systemic
32.9
16.4
21
7
34700
ICD-8 Finland
Other disease of brain, Cataplexy and narcolepsy
+∞
15.8
15
*
N06AX18
ATC
reboxetine; oral
34.4
15.1
19
6
R06.5
ICD-10 Finland
Mouth breathing
8.4
14.0
31
42
3035
Kela drug reimbursment
NA
+∞
13.7
13
*
R40.0
ICD-10 Finland
Somnolence
49.5
12.0
14
*
E66.01
ICD-10 Finland
Obesity due to excess calories
6.5
11.9
31
54
WX722
NOMESCO Finland
PEEP
24.4
11.7
16
7
XG466
NOMESCO Finland
Sleep oxymetry
68.6
11.7
13
*
3472A
ICD-9 Finland
Cataplexy and narcolepsy[OBSTRUKTIIVINEN UNIAPNEA]
+∞
11.6
11
*
R03CA02
ATC
ephedrine; oral
126.2
11.5
12
*
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
7.8
11.4
26
37
Z01.8
ICD-10 Finland
Other specified special examinations
3.3
10.7
59
217
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
6.0
10.6
29
54
N04BC05
ATC
pramipexole; oral
6.7
10.4
26
43
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
3.5
9.9
50
171
R03AC02
ATC
salbutamol; inhalant
2.5
9.8
128
783
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
5.4
9.7
29
60
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
3.8
9.5
41
123
XA420
NOMESCO Finland
Extensive sleep examination
104.2
9.5
10
*
E66.8
ICD-10 Finland
Other obesity
11.4
8.9
16
15
N06AB04
ATC
citalopram; systemic
3.1
8.9
54
210
A02BA02
ATC
ranitidine; systemic
3.4
8.9
45
154
N03AX12
ATC
gabapentin; oral
3.7
8.9
39
119
XA800
NOMESCO Finland
Neuropsychological investigation
8.2
8.8
19
25
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.5
8.6
86
447
R51.80
ICD-10 Finland
Headache
3.5
8.6
42
140
WX780
NOMESCO Finland
Remote monitoring CPAP
+∞
8.4
8
*
N07XX11
ATC
pitolisant; oral
+∞
8.4
8
*
H02AB06
ATC
prednisolone; systemic
2.3
7.9
103
607
G45.9
ICD-10 Finland
Transient cerebral ischaemic attack, unspecified
46.6
7.8
9
*
G97.0
ICD-10 Finland
Cerebrospinal fluid leak from spinal puncture
12.5
7.7
13
11
WX723
NOMESCO Finland
CPAP therapy
+∞
7.3
7
*
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
+∞
7.3
7
*
A02BC03
ATC
lansoprazole; oral
2.5
7.1
62
294
285
Kela drug reimbursment
Dulaglutide, exenatide, liraglutide, lixisenatide and semaglutide (adults)
7.4
7.1
16
23
J45.9
ICD-10 Finland
Asthma, unspecified
2.8
7.1
47
191
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.5
7.1
64
309
R55
ICD-10 Finland
Syncope and collapse
3.8
7.0
29
84
G25.8
ICD-10 Finland
Other specified extrapyramidal and movement disorders
9.8
6.9
13
14
A46
ICD-10 Finland
Erysipelas
3.6
6.8
30
92
M03BX02
ATC
tizanidine; oral
2.1
6.8
126
850
R06.0
ICD-10 Finland
Dyspnoea
2.6
6.8
51
224
N03AX16
ATC
pregabalin; oral
2.7
6.7
50
217
346
Kela drug reimbursment
Dulaglutide, exenatide, liraglutide, lixisenatide and semaglutide (adults)
7.8
6.5
14
19
F32.11
ICD-10 Finland
Moderate depressive episode with somatic syndrome
7.8
6.5
14
19
Z71.3
ICD-10 Finland
Dietary counselling and surveillance
4.9
6.5
20
44
G47.2
ICD-10 Finland
Disorders of the sleep-wake schedule
71.8
6.5
7
*
N03AX09
ATC
lamotrigine; oral
5.8
6.4
17
31
E66.00
ICD-10 Finland
Metabolic syndrome
5.7
6.3
17
32
G43.0
ICD-10 Finland
Migraine without aura [common migraine]
6.6
6.3
15
24
G40.9
ICD-10 Finland
Epilepsy, unspecified
+∞
6.3
6
*
310
Kela drug reimbursment
Orlistat, sibutramine and other major and expensive medicines used to treat obesity
+∞
6.3
6
*
AA1AD
NOMESCO Finland
CT of head and brain
2.8
6.2
40
161
J45.1
ICD-10 Finland
Nonallergic asthma
4.4
6.2
21
51
N06AB03
ATC
fluoxetine; oral
3.2
6.2
32
112
N03AE01
ATC
clonazepam; systemic
5.5
6.2
17
33
TAB22
NOMESCO Finland
Stoppin epidural fluid escape with coagulated blood
10.4
6.1
11
11
G43.9
ICD-10 Finland
Migraine, unspecified
10.4
6.1
11
11
H02AB04
ATC
methylprednisolone; systemic
3.1
6.1
32
113
R07.4
ICD-10 Finland
Chest pain, unspecified
2.5
6.1
49
222
WZC10
NOMESCO Finland
Extensive specialist consultion with written report
5.3
6.0
17
34
N02AA05
ATC
oxycodone; systemic
3.2
6.0
31
108

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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