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Familial benign pemphigus (Hailey-Hailey disease)

Endpoint Browser PheWeb

Q17_FAMILIAL_BENIGN_PEMPHIGUS

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

519972

1. Apply sex-specific rule

None

519972

2. Check conditions

None

519972

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.

82

4. Check minimum number of events

None

82

5. Include endpoints

None

82

6. Filter based on genotype QC (FinnGen only)

78

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 78 47 31
Unadjusted period prevalence (%) 0.02 0.02 0.01
Median age at first event (years) 53.07 51.44 55.54

-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
82
Matched controls
820
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q82.80
ICD-10 Finland
Benign familial pemphigus [Hailey-Hailey]
+∞
118.0
82
*
D07BB04
ATC
hydrocortisone butyrate and antiseptics; topical
25.7
51.5
50
47
Q82.88
ICD-10 Finland
Other specified congenital malformations of skin
+∞
26.5
24
*
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
12.8
26.3
32
39
D07CC01
ATC
betamethasone and antibiotics; topical
11.1
26.1
38
59
D05BB02
ATC
acitretin; oral
26.0
16.7
23
12
D07BA04
ATC
hydrocortisone and antiseptics; topical
9.3
16.2
23
33
E0000UV, ,
ATC
6.5
14.8
59
231
L30.9
ICD-10 Finland
Dermatitis, unspecified
5.6
12.2
31
80
D06AX01
ATC
fusidic acid; topical
6.6
10.7
20
38
Q82.81
ICD-10 Finland
Keratosis follicularis [Darier-White]
125.4
10.7
11
*
D07AD01
ATC
clobetasol; topical
5.3
10.4
27
70
D07BC01
ATC
betamethasone and antiseptics; topical
5.9
10.2
22
48
E000002, ,
ATC
6.1
10.2
21
44
QBA25
NOMESCO Finland
Destruction of lesion of skin of trunk
30.4
10.2
13
5
E000001, ,
ATC
4.6
9.7
31
95
D07AC13
ATC
mometasone; topical
4.1
8.9
39
150
R21
ICD-10 Finland
Rash and other nonspecific skin eruption
10.8
7.1
13
14
D07AC01
ATC
betamethasone; topical
3.4
6.9
43
201
WX402
NOMESCO Finland
General anaesthesia
3.8
6.6
26
90
ZXC07
NOMESCO Finland
Carbon dioxide laser
75.5
6.5
7
*
Q82.82
ICD-10 Finland
Inherited keratosis palmaris et plantaris
+∞
6.3
6
*
Q82.8
ICD-10 Finland
Other specified congenital malformations of skin
+∞
6.3
6
*
QBA40
NOMESCO Finland
Laser therapy or photocoagulation of skin of trunk
+∞
6.3
6
*
D01AC20
ATC
imidazoles/triazoles in combination with corticosteroids; topical
3.4
6.3
30
118
D02AE01
ATC
carbamide; topical
6.8
6.2
15
26
J01DA09
ATC
[U] cefadroxil
3.2
6.0
34
148

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
19
24
9.95
9.52
1.4
1.3
—
—
—
0
0
22
76
3.59
5.56
2.2
1.4
—
—
—
0
0
11
31
3.93
3.13
8.4
4.7
—
—
—
0
0
7
12
6.26
3.09
1.0
1.2
—
—
—
0
0
13
55
2.62
2.25
1.1
1.1
—
—
—
0
0
61
477
2.09
2.21
4.6
3.7
—
—
—
0
0
18
97
2.10
1.84
2.4
1.9
—
—
—
0
0
45
341
1.71
1.56
7.0
6.3
0.58
0.57
e9/l
0.06
38
302
45
341
1.71
1.56
7.0
6.3
0.05
0.04
e9/l
0.41
39
301
7
27
2.74
1.55
3.0
5.4
24.36
24.69
mmol/l
—
7
27
46
352
1.70
1.53
6.9
6.4
0.19
0.19
e9/l
0.01
39
318
58
477
1.74
1.44
5.3
3.9
—
—
—
0
0
42
323
1.62
1.30
7.4
7.2
—
—
—
0
0
24
160
1.71
1.29
6.5
9.0
—
—
—
0
0
5
19
2.73
1.23
1.0
1.7
81.00
44.32
nmol/l
—
5
19
29
209
1.60
1.15
4.2
3.2
—
—
—
0
0
43
341
1.55
1.12
4.3
3.6
0.00
0.00
estimate
-0.00
11
73
37
284
1.55
1.12
1.9
2.4
80.60
107.35
ug/l
0.92
32
272
25
175
1.62
1.11
6.0
4.5
—
—
—
0
0
29
211
1.58
1.10
3.0
4.0
7.41
7.41
ph
—
5
36
38
295
1.54
1.08
10.6
10.2
0.00
0.00
e9/l
0.80
31
248
13
76
1.84
1.06
1.2
1.2
—
—
—
0
0
28
204
1.57
1.05
3.9
2.7
—
—
—
0
0
49
404
1.53
1.05
9.5
11.0
4.19
4.17
e9/l
0.03
44
360
9
49
1.94
1.02
5.0
4.9
—
—
—
0
0
34
265
1.48
0.92
2.7
4.3
45.44
24.77
ng/l
0.31
21
187
42
342
1.47
0.91
6.0
4.9
0.00
0.00
estimate
-0.00
11
69
20
272
0.65
0.87
2.8
2.9
—
—
—
0
0
42
345
1.45
0.86
4.4
3.6
0.00
0.00
estimate
-0.00
11
63
20
142
1.54
0.82
1.1
1.4
1.87
2.27
g/l
0.82
11
92
10
59
1.79
0.80
4.7
3.4
—
—
—
0
0
13
85
1.63
0.74
1.2
1.3
—
—
—
0
0
5
25
2.06
0.74
7.2
6.1
21.80
24.48
mmol/l
—
5
25
7
40
1.82
0.73
5.9
5.5
95.87
94.43
%
—
7
40
33
268
1.39
0.68
2.5
1.8
83.76
99.34
pmol/l
1.31
17
136
8
49
1.70
0.64
6.8
3.4
—
—
—
0
0
39
331
1.34
0.60
16.9
12.5
1.08
1.18
inr
0.65
13
97
13
90
1.53
0.60
1.5
1.3
—
—
—
0
0
25
200
1.36
0.55
3.0
2.5
0.01
0.36
e6/l
3.24
20
154
9
62
1.51
0.55
1.3
2.8
9.09
4.85
ug/l
—
9
56
6
40
1.54
0.53
4.7
3.7
20.50
73.14
u/ml
—
6
40
10
67
1.56
0.52
1.8
1.5
—
—
—
0
0
26
213
1.32
0.49
3.2
2.7
17.10
48.42
e6/l
0.82
21
171
14
104
1.42
0.47
1.2
1.7
—
—
—
0
0
19
150
1.35
0.45
1.2
1.3
62.14
29.23
iu/ml
—
7
59
24
198
1.30
0.43
3.1
2.5
—
—
—
0
0
10
71
1.47
0.41
1.7
1.7
—
—
—
0
0
0
17
0.00
0.41
0.0
1.8
—
—
—
0
0
18
145
1.31
0.38
1.1
1.3
12.75
6.44
u/ml
—
6
58
6
41
1.50
0.37
1.2
1.3
—
—
—
0
0
29
252
1.23
0.34
3.6
3.2
189.64
46.30
e6/l
0.51
22
187
6
46
1.33
0.34
1.7
2.5
15.92
13.51
nmol/l
—
6
46
75
725
1.40
0.33
15.8
13.3
—
—
—
0
0
17
205
0.78
0.33
3.2
4.1
—
—
—
0
0
65
680
0.79
0.30
4.8
4.5
6.01
5.82
mmol/l
0.75
58
631
7
56
1.27
0.30
1.4
1.3
—
—
—
0
0
73
702
1.36
0.30
19.6
14.4
21.69
22.25
mg/l
0.06
61
543
8
64
1.28
0.28
1.4
1.5
—
—
—
0
0
11
86
1.32
0.28
1.2
1.7
—
—
—
0
0
22
190
1.22
0.27
1.3
1.5
—
—
—
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
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
3.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.5
—
—
—
0
0
14
119
1.21
0.19
1.3
2.0
—
—
—
0
0
6
77
0.76
0.16
1.8
1.3
—
—
—
0
0
23
208
1.15
0.16
3.2
2.3
—
—
—
0
0
67
650
1.17
0.15
5.8
5.5
39.61
39.50
mmol/mol
0.04
62
615
69
673
1.16
0.12
4.9
4.0
1.29
1.27
mmol/l
0.07
62
625
5
47
1.07
0.09
3.2
1.8
—
—
—
0
0
6
56
1.08
0.09
2.2
3.7
—
—
—
0
0
6
56
1.08
0.09
1.3
1.3
—
—
—
0
0
10
88
1.16
0.08
1.2
2.2
28.74
167.91
ug/g
—
10
72
8
78
1.03
0.07
1.0
1.4
—
—
—
0
0
20
187
1.09
0.07
5.6
3.9
0.00
0.00
estimate
-0.00
11
66
15
141
1.08
0.04
3.7
3.7
—
—
—
0
0
29
281
1.05
0.03
2.1
2.0
—
—
—
0
0
22
215
1.03
0.00
4.2
3.2
11.97
8.08
mg/mmol
0.15
16
129
0
8
0.00
0.00
0.0
1.1
—
13.28
—
0
8
0
8
0.00
0.00
0.0
1.6
—
—
—
0
0
0
8
0.00
0.00
0.0
3.3
—
406.12
—
0
8
0
8
0.00
0.00
0.0
4.9
—
—
—
0
0
0
8
0.00
0.00
0.0
2.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.5
—
31.15
—
0
8
0
6
0.00
-0.00
0.0
1.5
—
6.50
—
0
6
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
74
739
1.01
-0.00
22.6
16.5
74.45
76.64
umol/l
0.38
74
739
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.2
—
32.67
—
0
6
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
5
53
0.94
-0.00
2.8
4.2
1.22
1.22
mmol/l
—
5
47
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.3
—
36.01
—
0
7
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
3.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
63.34
—
0
5
0
6
0.00
-0.00
0.0
1.7
—
1.56
—
0
6
0
7
0.00
-0.00
0.0
1.9
—
—
—
0
0
70
700
1.00
-0.00
5.7
4.5
4.68
4.67
mmol/l
0.04
65
661
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.7
—
1.01
—
0
7
5
56
0.89
-0.00
1.4
1.7
—
—
—
0
0

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: 11

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