Familial benign pemphigus (Hailey-Hailey disease)

Q17_FAMILIAL_BENIGN_PEMPHIGUS

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

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

Registry filters:

  • Hospital discharge: ICD-10 Q82.80
  • Cause of death: ICD-10 Q82.80

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

89

4. Check minimum number of events

None

89

5. Include endpoints

None

89

6. Filter based on genotype QC (FinnGen only)

80

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

All Female Male
Number of individuals 80 48 32
Unadjusted period prevalence (%) 0.02 0.02 0.01
Median age at first event (years) 53.42 51.82 55.81

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS

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
84
Matched controls
840
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q82.80
ICD-10 Finland
Benign familial pemphigus [Hailey-Hailey]
+∞
120.9
84
*
D07BB04
ATC
hydrocortisone butyrate and antiseptics; topical
28.2
56.1
53
48
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
13.3
27.8
33
39
Q82.88
ICD-10 Finland
Other specified congenital malformations of skin
+∞
26.4
24
*
D07CC01
ATC
betamethasone and antibiotics; topical
10.9
26.2
39
62
D05BB02
ATC
acitretin; oral
30.6
19.7
26
12
D07BA04
ATC
hydrocortisone and antiseptics; topical
9.8
17.5
24
33
E0000UV, ,
ATC
6.6
14.9
62
251
L30.9
ICD-10 Finland
Dermatitis, unspecified
5.6
13.1
35
95
D06AX01
ATC
fusidic acid; topical
6.7
11.3
21
40
Q82.81
ICD-10 Finland
Keratosis follicularis [Darier-White]
125.0
10.7
11
*
D07AD01
ATC
clobetasol; topical
5.2
10.6
28
74
E000002, ,
ATC
5.9
9.9
21
45
QBA25
NOMESCO Finland
Destruction of lesion of skin of trunk
25.2
9.7
13
6
WX402
NOMESCO Finland
General anaesthesia
4.5
9.6
32
101
D07BC01
ATC
betamethasone and antiseptics; topical
5.5
9.5
22
51
D07AC13
ATC
mometasone; topical
4.0
8.9
40
156
E000001, ,
ATC
4.3
8.8
31
101
D07AC01
ATC
betamethasone; topical
3.6
7.9
47
217
Q82.82
ICD-10 Finland
Inherited keratosis palmaris et plantaris
+∞
7.4
7
*
Q82.8
ICD-10 Finland
Other specified congenital malformations of skin
+∞
7.4
7
*
D01AC20
ATC
imidazoles/triazoles in combination with corticosteroids; topical
3.6
7.2
33
128
R21
ICD-10 Finland
Rash and other nonspecific skin eruption
10.0
6.8
13
15
WX704
NOMESCO Finland
Intubation
7.4
6.5
15
24
ZXC07
NOMESCO Finland
Carbon dioxide laser
75.3
6.5
7
*
QBA40
NOMESCO Finland
Laser therapy or photocoagulation of skin of trunk
+∞
6.3
6
*
D07XB05
ATC
dexamethasone; topical
14.0
6.3
10
8
D02AE01
ATC
carbamide; topical
6.8
6.2
15
26
J01DA01
ATC
[U] cefalexin
3.7
6.1
66
417

LabWAS

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
20
31
8.12
8.87
1.5
1.3
—
—
—
0
0
24
84
3.60
5.96
2.4
1.4
—
—
—
0
0
10
13
8.56
5.01
1.0
1.2
—
—
—
0
0
53
366
2.21
3.03
6.7
6.7
26.41
27.30
%
0.23
48
347
37
228
2.11
2.77
5.1
7.6
—
—
—
0
0
47
326
2.00
2.48
2.3
2.0
1.41
1.35
mmol/l
0.16
42
273
12
47
2.81
2.39
1.1
1.4
—
32.00
—
0
5
50
358
1.98
2.37
6.8
6.5
3.05
2.81
%
0.34
45
336
26
151
2.05
2.21
6.0
3.2
17.29
80.09
ng/l
1.08
21
112
53
394
1.94
2.18
7.1
6.8
0.05
0.04
e9/l
0.94
45
344
48
346
1.90
2.16
3.7
2.7
—
—
estimate
—
0
0
54
406
1.92
2.12
7.1
6.8
0.21
0.19
e9/l
0.26
45
364
53
397
1.91
2.10
7.2
6.8
1.82
1.82
e9/l
0.03
47
359
52
392
1.86
1.97
7.2
6.8
0.58
0.58
e9/l
0.01
43
344
35
240
1.79
1.76
6.4
6.4
—
—
—
0
0
8
31
2.74
1.71
3.0
1.8
—
—
—
0
0
28
181
1.82
1.70
1.2
1.3
1.90
2.70
u/ml
—
6
44
34
241
1.69
1.48
4.5
3.3
0.00
0.01
estimate
—
10
68
13
67
2.11
1.48
1.2
1.1
—
—
—
0
0
42
315
1.67
1.47
4.7
3.9
0.00
0.01
estimate
0.49
11
72
29
198
1.71
1.44
5.8
4.7
—
—
—
0
0
16
91
1.94
1.41
6.8
6.4
7.42
7.42
ph
—
9
59
39
293
1.62
1.33
2.9
4.4
40.05
24.61
ng/l
0.27
25
208
16
93
1.89
1.32
1.4
1.2
—
—
—
0
0
8
36
2.35
1.28
2.7
10.0
24.31
24.82
mmol/l
—
8
36
51
412
1.61
1.27
4.9
3.8
0.00
0.00
estimate
-0.00
12
88
18
111
1.79
1.25
2.4
2.1
—
—
—
0
0
50
406
1.57
1.18
4.9
3.8
0.00
0.00
estimate
-0.00
12
85
41
319
1.56
1.17
4.1
3.6
6.24
6.15
ph
0.26
27
191
16
98
1.78
1.13
1.1
1.3
—
—
—
0
0
42
331
1.54
1.12
12.7
12.4
0.00
0.00
e9/l
0.80
34
277
25
176
1.60
1.08
4.4
4.1
1.02
1.02
kg/l
0.24
17
116
11
61
1.92
1.04
4.7
3.5
—
—
—
0
0
50
414
1.51
1.03
4.9
3.9
0.00
0.00
estimate
-0.00
12
79
42
338
1.49
0.98
2.5
2.0
91.07
97.36
pmol/l
0.40
22
170
44
361
1.46
0.91
17.0
13.1
1.23
1.20
inr
0.16
39
294
30
231
1.46
0.85
4.2
2.8
—
—
—
0
0
51
440
1.40
0.75
9.9
11.7
4.19
4.14
e9/l
0.05
44
391
24
181
1.46
0.74
5.5
3.9
86.63
90.74
%
0.28
24
181
12
77
1.65
0.73
1.8
1.7
—
—
—
0
0
5
26
1.98
0.72
1.2
1.7
80.40
44.92
nmol/l
—
5
26
22
165
1.45
0.70
1.3
1.4
12.75
6.52
u/ml
—
6
65
10
62
1.70
0.68
1.4
1.4
—
—
—
0
0
33
268
1.38
0.68
3.7
3.6
9.75
8.41
mg/mmol
0.06
20
161
10
63
1.67
0.65
4.6
7.4
—
—
—
0
0
42
357
1.35
0.64
2.1
2.7
81.67
102.42
ug/l
0.73
35
342
32
261
1.37
0.64
3.1
3.0
43.20
48.33
mg/l
0.06
21
166
8
51
1.63
0.62
6.8
3.5
—
—
—
0
0
5
30
1.71
0.62
1.0
1.3
0.24
0.23
g/l
—
5
30
5
30
1.71
0.62
1.0
1.3
1.21
1.21
g/l
—
5
30
30
244
1.36
0.60
3.6
4.1
7.39
7.40
ph
0.30
22
173
28
232
1.31
0.49
3.0
2.7
0.06
0.37
e6/l
2.52
22
171
69
728
0.71
0.49
5.7
5.2
6.02
5.84
mmol/l
0.91
62
681
39
340
1.27
0.46
5.6
6.3
1.19
1.21
mmol/l
1.50
39
316
22
179
1.31
0.43
1.5
1.4
56.25
27.17
iu/ml
—
8
67
5
32
1.60
0.43
1.0
1.1
—
—
—
0
0
9
66
1.41
0.40
1.3
2.8
9.09
4.86
ug/l
—
9
60
0
19
0.00
0.39
0.0
1.8
—
—
—
0
0
31
268
1.25
0.38
3.0
2.9
163.09
41.93
e6/l
0.37
25
209
27
312
0.80
0.37
3.0
3.4
—
—
—
0
0
15
118
1.33
0.36
1.3
1.8
—
—
—
0
0
6
42
1.46
0.36
1.7
2.5
22.40
24.04
mmol/l
—
6
42
13
100
1.35
0.36
1.5
1.4
—
—
—
0
0
6
44
1.39
0.35
1.7
3.2
7.42
7.42
ph
—
6
36
7
51
1.41
0.32
5.9
8.6
95.87
94.29
%
—
7
51
8
63
1.30
0.29
1.8
2.6
16.06
13.85
nmol/l
—
8
63
8
63
1.30
0.29
5.4
6.9
0.90
1.17
mmol/l
—
8
63
12
95
1.31
0.28
1.2
1.7
—
—
—
0
0
20
170
1.23
0.28
1.2
1.4
1.87
2.20
g/l
0.67
11
106
25
218
1.21
0.27
1.4
1.5
—
—
—
0
0
10
77
1.34
0.27
1.8
1.6
—
—
—
0
0
33
298
1.18
0.25
3.6
3.6
162.90
65.04
e6/l
0.37
26
214
34
309
1.17
0.23
2.2
2.1
—
—
—
0
0
76
740
1.28
0.22
21.9
16.5
23.44
21.79
mg/l
0.19
68
601
5
41
1.23
0.22
7.2
9.0
21.80
24.91
mmol/l
—
5
41
16
136
1.22
0.22
1.4
2.0
—
—
—
0
0
0
11
0.00
0.21
0.0
4.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
4.0
—
11.75
—
0
11
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.5
—
—
—
0
0
6
47
1.30
0.21
5.5
3.6
34.50
65.32
u/ml
—
6
47
21
185
1.18
0.20
6.8
6.5
—
—
—
0
0
6
52
1.17
0.19
1.2
1.3
—
—
—
0
0
26
235
1.15
0.19
3.0
2.4
—
—
—
0
0
5
67
0.73
0.17
1.4
1.8
—
—
—
0
0
9
77
1.19
0.16
1.3
1.5
—
—
—
0
0
5
46
1.09
0.10
1.0
1.2
—
—
—
0
0
5
48
1.04
0.09
3.2
1.9
—
—
—
0
0
6
58
1.04
0.08
2.2
3.7
—
—
—
0
0
24
227
1.08
0.07
6.2
4.0
0.00
0.00
estimate
-0.00
11
80
72
714
1.06
0.01
6.8
6.3
39.88
39.13
mmol/mol
0.32
66
676
71
709
1.01
0.00
5.4
4.5
1.29
1.27
mmol/l
0.15
63
660
74
741
0.99
0.00
6.8
5.4
4.61
4.60
mmol/l
0.02
69
699
6
66
0.90
0.00
1.5
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
3.3
—
0.41
—
0
8
0
7
0.00
-0.00
0.0
1.9
—
—
—
0
0
77
762
1.13
-0.00
18.1
14.7
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
6.19
—
0
8
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
7
78
0.89
-0.00
1.7
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
27
270
1.00
-0.00
2.7
3.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.0
—
32.00
—
0
7
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
76
757
1.04
-0.00
26.5
18.2
4.00
3.96
mmol/l
0.82
76
744
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
13.25
—
0
8
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
9
94
0.95
-0.00
1.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.4
—
39.20
—
0
8
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
5.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.4
—
31.13
—
0
9

Mortality – FinRegistry

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

Index endpoint: Q17_FAMILIAL_BENIGN_PEMPHIGUS – Familial benign pemphigus (Hailey-Hailey disease)

GWS hits: 14

This endpoint is excluded (different definition than used in FinnGen).