Cicatricial pemphigoid

L12_PEMPHIGOID_CICA

mucous membrane pemphigoid: Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane.

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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 L12.1
  • Cause of death: ICD-10 L12.1

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

86

4. Check minimum number of events

None

86

5. Include endpoints

None

86

6. Filter based on genotype QC (FinnGen only)

78

Control definitions (FinnGen only)

Control exclude
L12_BULLOUS

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
L12
Name in latin
Pemphigoides cicatricalis

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 410 265 143
Only index persons 375 247 128
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.00
Only index persons 0.01 0.01 0.00
Median age at first event (years)
Whole population 68.93 68.40 69.73
Only index persons 67.68 66.93 69.13

-FinnGen-

Key figures

All Female Male
Number of individuals 78 57 21
Unadjusted period prevalence (%) 0.02 0.02 0.01
Median age at first event (years) 64.99 62.70 71.18

-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

No data

-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
79
Matched controls
790
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
L12.1
ICD-10 Finland
Cicatricial pemphigoid
+∞
113.6
79
*
L12.0
ICD-10 Finland
Bullous pemphigoid
+∞
47.9
41
*
D07AD01
ATC
clobetasol; topical
12.0
28.5
44
75
ECA20
NOMESCO Finland
Biopsy of gingiva
134.0
26.6
27
*
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
10.8
22.7
32
47
J04BA02
ATC
dapsone; oral
281.2
21.7
21
*
L04AX01
ATC
azathioprine; systemic
37.4
19.2
24
9
L12.8
ICD-10 Finland
Other pemphigoid
+∞
17.3
16
*
L12.9
ICD-10 Finland
Pemphigoid, unspecified
+∞
17.3
16
*
D07AC01
ATC
betamethasone; topical
6.5
14.9
54
197
SBB00
NOMESCO Finland
Clinical photography of mouth and teeth
22.8
12.8
18
10
H02AB06
ATC
prednisolone; systemic
6.8
12.1
64
304
135
Kela drug reimbursment
Pemphigus
+∞
10.6
10
*
SBA00
NOMESCO Finland
Microbiological examinations
20.2
10.4
15
9
K13.79
ICD-10 Finland
Change in the oral mucosa UNS
16.3
10.2
16
12
EKA10
NOMESCO Finland
iopsy of buccal mucosa
15.1
9.3
15
12
A07AA02
ATC
nystatin; oral
6.9
6.6
16
28

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
51
241
4.15
8.66
11.9
4.8
—
—
—
0
0
29
94
4.29
8.34
1.2
1.4
944.00
488.89
titre
—
10
27
25
89
3.65
6.11
3.7
3.0
1.81
2.05
%
0.53
20
81
32
138
3.22
5.74
7.4
5.8
—
—
—
0
0
56
336
3.29
5.61
13.0
5.9
29.75
27.32
%
0.76
56
313
61
390
3.48
5.39
4.7
4.3
0.00
22.25
estimate
0.49
14
73
55
334
3.13
5.25
13.1
5.8
0.76
0.65
%
0.88
55
306
55
336
3.10
5.16
13.1
5.8
3.14
2.65
%
1.01
55
309
55
337
3.08
5.11
13.4
5.8
9.09
8.45
%
1.04
55
311
54
330
3.01
5.00
12.9
5.9
55.61
57.82
%
0.62
54
310
41
222
2.76
4.69
5.0
4.2
0.00
0.00
estimate
-0.00
14
60
52
319
2.84
4.65
15.6
12.4
0.00
0.00
e9/l
0.50
44
258
60
398
3.11
4.62
4.8
4.3
0.00
0.00
estimate
-0.00
13
66
16
52
3.60
4.37
1.7
3.6
—
—
—
0
0
58
387
2.88
4.24
4.9
4.3
0.00
0.00
estimate
-0.00
14
70
14
37
4.37
4.15
1.4
1.3
—
—
—
0
0
41
235
2.55
4.03
1.9
1.8
18.25
22.67
nmol/l
1.03
34
189
69
540
3.19
3.15
9.4
8.7
73.55
80.93
u/l
1.60
64
512
9
21
4.69
3.10
2.1
1.3
1.09
1.18
g/l
—
9
21
10
27
4.08
3.00
1.1
1.0
—
—
—
0
0
47
314
2.23
2.98
5.0
4.0
6.73
6.29
ph
1.61
22
172
49
334
2.23
2.94
6.1
4.8
34.74
35.26
g/l
0.25
44
320
39
247
2.14
2.77
13.1
7.0
—
—
—
0
0
43
287
2.09
2.62
2.7
2.3
—
—
—
0
0
19
91
2.43
2.59
1.7
1.5
—
—
—
0
0
5
7
7.52
2.58
1.6
1.6
2.85
5.64
e9/l
—
5
7
48
341
2.04
2.40
2.6
2.2
91.78
99.03
pmol/l
0.51
27
175
37
240
2.02
2.38
3.1
4.8
7.40
7.39
ph
0.18
27
172
32
198
2.04
2.34
2.7
2.1
3.06
2.91
mg/l
0.13
27
178
5
9
5.84
2.24
1.6
1.4
—
—
—
0
0
61
483
2.15
2.15
5.6
5.3
—
952.67
—
0
9
42
294
1.92
2.10
5.1
4.2
0.00
0.00
estimate
-0.00
11
53
40
276
1.91
2.08
3.8
3.5
2.38
2.36
mmol/l
0.21
35
254
48
354
1.91
2.02
4.5
6.5
1.22
1.22
mmol/l
0.05
41
327
64
522
2.19
2.00
4.9
4.7
15.08
15.05
pmol/l
0.03
58
475
5
11
4.77
1.97
1.6
2.9
49.40
60.13
%
—
5
11
12
53
2.49
1.92
2.3
3.8
—
—
—
0
0
72
631
2.59
1.81
7.7
7.1
39.88
39.98
mmol/mol
0.03
65
595
6
18
3.52
1.78
1.3
1.3
6.35
8.87
pmol/l
—
6
18
26
164
1.87
1.73
1.7
1.3
1.18
2.19
u/ml
—
9
37
39
280
1.78
1.70
3.4
4.4
39.68
97.96
e6/l
0.83
23
187
12
59
2.22
1.53
6.6
3.1
—
—
—
0
0
18
106
1.90
1.45
1.2
1.2
—
—
—
0
0
49
387
1.70
1.44
5.3
6.8
1.22
1.22
mmol/l
0.00
36
339
72
647
2.27
1.38
5.2
5.6
4.72
4.62
mmol/l
0.32
67
595
34
247
1.66
1.35
2.6
3.5
—
—
—
0
0
30
215
1.64
1.24
2.5
3.4
0.27
0.55
e6/l
0.71
20
153
15
89
1.85
1.18
1.2
1.3
—
—
—
0
0
25
173
1.65
1.17
6.6
4.6
1.02
1.02
kg/l
0.15
17
119
5
20
2.60
1.17
1.0
1.2
—
—
—
0
0
69
619
1.91
1.08
4.2
4.6
1.26
1.23
mmol/l
0.13
63
561
10
53
2.02
1.07
1.4
1.5
—
—
—
0
0
42
336
1.53
1.05
2.9
2.9
223.68
115.58
ug/l
1.01
36
310
5
22
2.36
1.05
4.2
17.8
—
—
—
0
0
12
72
1.79
0.91
1.6
1.7
—
—
—
0
0
31
239
1.49
0.89
2.2
2.6
79.28
74.53
u/l
0.05
25
228
68
617
1.73
0.88
6.4
5.9
1.89
1.91
mu/l
0.05
63
561
16
106
1.64
0.87
3.5
4.5
1.03
1.08
mmol/l
0.28
16
96
8
48
1.74
0.81
1.3
1.3
—
—
—
0
0
0
25
0.00
0.80
0.0
1.8
—
122.18
—
0
17
32
254
1.44
0.78
4.9
3.1
6.29
7.05
mmol/l
0.33
26
208
21
154
1.50
0.75
2.2
1.3
3.40
2.45
g/l
0.77
14
92
5
26
1.98
0.72
3.6
2.8
—
—
—
0
0
31
248
1.41
0.71
5.0
3.2
67.54
49.82
mg/l
0.22
22
159
31
249
1.40
0.69
2.6
3.6
57.60
61.25
e6/l
0.03
22
184
27
212
1.42
0.68
3.0
3.6
0.00
0.00
estimate
-0.00
12
55
42
356
1.38
0.68
21.5
14.0
1.43
1.28
inr
0.72
37
297
17
122
1.50
0.67
1.2
1.4
14.90
8.53
u/ml
0.19
11
39
18
131
1.48
0.67
1.3
1.3
57.26
38.91
iu/ml
—
8
50
5
29
1.77
0.65
1.0
1.2
—
—
—
0
0
0
22
0.00
0.60
0.0
3.5
—
47.23
—
0
22
0
22
0.00
0.60
0.0
4.4
—
31.89
—
0
13
7
45
1.61
0.50
4.4
2.9
1.03
0.64
%
—
7
45
12
85
1.49
0.50
1.3
1.4
—
—
—
0
0
30
256
1.28
0.42
6.2
3.9
11.14
8.89
mg/mmol
0.13
20
156
5
33
1.55
0.42
7.0
3.3
—
—
—
0
0
0
16
0.00
0.41
0.0
2.6
—
15.56
—
0
16
0
17
0.00
0.41
0.0
1.9
—
90.45
—
0
17
0
17
0.00
0.41
0.0
2.2
—
3.43
—
0
10
0
19
0.00
0.39
0.0
1.8
—
8.36
—
0
19
9
70
1.32
0.38
1.2
1.4
—
—
—
0
0
24
204
1.25
0.34
2.7
3.3
—
—
estimate
—
0
0
24
205
1.25
0.33
3.3
3.5
—
0.00
—
0
6
10
75
1.38
0.32
1.5
1.4
—
—
—
0
0
7
53
1.35
0.32
1.1
1.5
—
—
—
0
0
21
245
0.81
0.31
2.3
2.3
—
—
—
0
0
14
112
1.30
0.31
1.4
1.8
—
—
—
0
0
9
116
0.75
0.30
2.7
6.7
103.56
104.20
mmol/l
—
9
116
8
61
1.35
0.29
1.6
1.2
—
—
—
0
0
14
115
1.26
0.25
1.5
2.0
32.57
29.78
s
0.67
14
110
25
221
1.19
0.24
3.9
3.5
—
—
—
0
0
36
330
1.17
0.23
2.3
2.6
—
—
estimate
—
0
0
5
42
1.20
0.22
1.8
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
15.4
—
6.85
—
0
11
0
11
0.00
0.21
0.0
2.5
—
—
—
0
0
0
10
0.00
0.21
0.0
2.9
—
—
—
0
0
0
12
0.00
0.21
0.0
2.6
—
—
—
0
0
0
12
0.00
0.21
0.0
1.8
—
—
—
0
0
0
12
0.00
0.21
0.0
1.9
—
0.19
—
0
7
0
13
0.00
0.21
0.0
1.3
—
391.23
—
0
13
0
14
0.00
0.20
0.0
2.3
—
1.45
—
0
14
6
50
1.22
0.20
1.0
1.2
—
—
—
0
0
11
94
1.20
0.14
1.3
1.5
—
—
—
0
0
15
134
1.15
0.12
2.1
1.6
982.78
1152.28
nmol/l
—
9
106
31
292
1.10
0.11
2.0
2.1
1.17
1.33
mmol/l
0.66
25
242
32
302
1.10
0.11
5.0
4.2
27.41
36.38
ng/l
0.45
27
223
5
46
1.09
0.10
1.6
3.0
1.34
1.40
%
—
5
46
5
60
0.82
0.08
1.6
1.5
—
—
—
0
0
10
88
1.16
0.08
2.3
6.9
7.47
7.42
ph
—
5
55
24
229
1.07
0.05
4.8
3.8
—
—
—
0
0
10
95
1.06
0.00
1.1
1.2
—
—
—
0
0
18
181
0.99
0.00
1.4
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
221.75
—
0
8
0
7
0.00
-0.00
0.0
1.4
—
96.43
—
0
7
0
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.6
—
1.20
—
0
5
0
9
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
6.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
6
63
0.95
-0.00
2.5
8.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
2.8
—
88.72
—
0
9
0
5
0.00
-0.00
0.0
2.0
—
16.00
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
405.38
—
0
8
0
5
0.00
-0.00
0.0
1.2
—
200.00
—
0
5
0
5
0.00
-0.00
0.0
1.8
—
7.22
—
0
5
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint L12_PEMPHIGOID_CICA and mortality.

Females

Parameter HR [95% CI] p-value
L12_PEMPHIGOID_CICA 1.164 [0.85, 1.6] 0.353
Birth year 0.997 [0.99, 1.01] 0.51

During the follow-up period (1.1.1998 — 31.12.2019), 67 out of 250 females with L12_PEMPHIGOID_CICA died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have L12_PEMPHIGOID_CICA.

N-year risk Females Males
1 0.123% No data
5 0.767% No data
10 1.93% No data
15 3.849% No data
20 6.67% No data

Relationships between endpoints

Index endpoint: L12_PEMPHIGOID_CICA – Cicatricial pemphigoid

GWS hits: -

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