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.

Suggest a new description

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

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

70

4. Check minimum number of events

None

70

5. Include endpoints

None

70

6. Filter based on genotype QC (FinnGen only)

70

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 70 50 20
Unadjusted period prevalence (%) 0.01 0.02 0.01
Median age at first event (years) 64.21 61.81 70.22

-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 (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
64
Matched controls
641
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
L12.1
ICD-10 Finland
Cicatricial pemphigoid
+∞
91.9
64
*
L12.0
ICD-10 Finland
Bullous pemphigoid
+∞
38.5
33
*
ECA20
NOMESCO Finland
Biopsy of gingiva
142.2
19.8
20
*
J04BA02
ATC
dapsone; oral
+∞
15.2
14
*
L12.9
ICD-10 Finland
Pemphigoid, unspecified
+∞
15.2
14
*
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
12.2
14.3
28
38
D07AD01
ATC
clobetasol; topical
9.4
13.7
33
65
H02AB06
ATC
prednisolone; systemic
9.8
13.6
54
227
L04AX01
ATC
azathioprine; systemic
16.5
12.4
20
17
L12.8
ICD-10 Finland
Other pemphigoid
+∞
10.7
10
*
SBB00
NOMESCO Finland
Fotograf of mouth and teeth
19.1
10.1
15
10
D07AC01
ATC
betamethasone; topical
5.8
10.1
42
158
EKA10
NOMESCO Finland
Biopsy of cheek
36.2
9.8
12
*
135
Kela drug reimbursment
Pemphigus
+∞
8.5
8
*
K13.79
ICD-10 Finland
Change in the oral mucosa UNS
20.6
8.4
12
7
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
3.7
6.0
39
188

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
24
65
5.10
8.82
1.2
1.4
370.0
416.0
titre
—
8
15
40
185
3.71
6.82
11.3
4.3
—
—
—
0
0
12
24
5.83
5.99
1.2
1.4
—
—
—
0
0
27
112
3.30
5.21
6.5
5.6
—
—
—
0
0
45
261
3.03
4.72
12.4
9.8
0.0
0.0
e9/l
0.50
36
210
44
268
2.73
3.95
12.6
5.4
31.0
27.7
%
0.90
44
245
43
259
2.71
3.95
12.3
5.1
0.8
0.6
%
1.25
43
236
13
40
3.76
3.85
1.7
3.9
—
—
—
0
0
43
265
2.61
3.68
12.5
5.3
3.1
2.6
%
0.73
43
244
43
268
2.57
3.56
12.9
5.5
9.2
8.2
%
1.30
43
247
42
266
2.45
3.26
12.4
5.2
54.9
57.7
%
0.68
42
246
28
149
2.47
3.17
1.9
1.6
17.4
23.7
nmol/l
1.20
22
119
44
288
2.42
3.13
5.0
4.1
0.0
0.0
estimate
—
9
50
6
8
8.06
3.12
1.3
1.5
—
—
—
0
0
44
293
2.35
2.94
5.0
4.1
0.0
0.0
estimate
—
9
47
29
162
2.35
2.91
5.8
4.0
0.0
0.0
estimate
—
10
48
9
23
4.33
2.89
1.0
1.0
—
—
—
0
0
23
117
2.44
2.83
1.6
1.2
1.2
1.3
u/ml
—
9
25
38
241
2.26
2.81
2.6
2.3
—
—
—
0
0
5
6
8.84
2.79
1.6
4.2
49.4
55.2
%
—
5
6
5
6
8.84
2.79
1.6
1.7
2.9
4.6
e9/l
—
5
6
29
165
2.29
2.77
15.2
6.3
—
—
—
0
0
16
69
2.71
2.73
1.4
1.4
—
—
—
0
0
54
409
2.40
2.46
5.4
4.4
—
—
—
0
0
7
17
4.45
2.43
2.1
1.2
1.0
1.2
g/l
—
7
17
42
289
2.13
2.41
6.2
5.6
0.0
0.0
estimate
—
10
50
38
252
2.11
2.40
2.6
2.0
91.3
99.7
pmol/l
0.51
23
124
39
262
2.10
2.37
5.1
4.0
34.5
35.3
g/l
0.38
33
246
7
19
3.97
2.21
1.4
2.1
—
—
—
0
0
12
50
2.69
2.16
6.6
3.0
—
—
—
0
0
23
130
2.15
2.16
6.6
3.9
—
—
—
0
0
52
401
2.15
2.07
3.8
3.9
—
—
—
0
0
30
192
1.98
2.00
2.5
3.3
—
—
—
0
0
65
570
2.96
1.88
4.7
5.3
2.8
2.7
mmol/l
0.37
60
511
29
187
1.94
1.87
2.8
4.6
7.4
7.4
ph
—
6
34
39
279
1.90
1.84
4.6
5.9
1.2
1.2
mmol/l
0.03
33
248
5
13
4.05
1.74
1.4
1.2
—
—
—
0
0
31
217
1.77
1.48
3.5
3.3
2.4
2.4
mmol/l
1.00
25
188
35
254
1.76
1.48
2.7
2.5
242.5
112.1
ug/l
1.03
30
228
63
558
2.29
1.41
4.4
4.8
4.8
4.7
mmol/l
0.54
57
506
18
109
1.88
1.35
1.9
1.3
3.7
2.3
g/l
0.93
11
65
52
430
1.81
1.33
4.8
4.0
14.9
14.9
pmol/l
0.01
46
384
14
79
1.97
1.28
3.4
4.4
1.0
1.1
mmol/l
0.59
14
72
15
87
1.92
1.27
1.2
1.2
—
—
—
0
0
8
38
2.24
1.23
1.4
1.3
—
—
—
0
0
62
554
2.04
1.21
4.3
4.8
1.6
1.5
mmol/l
0.81
57
495
49
404
1.71
1.21
5.7
4.8
—
949.7
—
0
9
61
540
2.01
1.17
3.9
4.2
1.2
1.2
mmol/l
0.07
55
481
59
519
1.87
1.07
5.9
4.9
1.8
1.9
mu/l
0.20
54
457
9
47
2.05
1.07
2.2
3.7
—
—
—
0
0
60
541
1.76
0.85
7.3
6.1
40.3
40.2
mmol/mol
0.03
52
498
0
27
0.00
0.79
0.0
1.3
—
—
—
0
0
55
489
1.58
0.78
23.8
15.7
37.5
39.4
%
0.85
36
342
5
23
2.26
0.78
7.0
3.9
—
—
—
0
0
30
243
1.41
0.66
7.6
6.7
1.3
1.3
inr
—
7
80
8
54
1.54
0.60
1.9
3.9
—
—
—
0
0
9
60
1.57
0.57
1.3
1.4
—
—
—
0
0
10
66
1.60
0.56
1.3
1.2
—
—
—
0
0
14
102
1.47
0.52
1.3
1.3
23.3
46.6
iu/ml
—
6
39
22
175
1.38
0.52
4.9
3.0
66.8
43.1
mg/l
0.23
16
108
7
45
1.62
0.51
1.3
1.5
—
—
—
0
0
7
45
1.62
0.51
1.6
1.2
—
—
—
0
0
22
178
1.34
0.46
2.2
2.3
51.1
58.0
u/l
0.46
17
168
5
32
1.60
0.43
4.6
2.6
1.0
0.7
%
—
5
32
23
190
1.31
0.42
6.0
3.7
11.1
8.1
mg/mmol
0.16
17
112
0
16
0.00
0.41
0.0
2.1
—
127.7
—
0
11
5
34
1.51
0.41
8.8
3.4
—
7.4
—
0
7
13
98
1.40
0.41
1.1
1.3
1.9
10.5
u/ml
—
8
31
0
18
0.00
0.40
0.0
4.6
—
35.1
—
0
11
0
18
0.00
0.40
0.0
3.4
—
53.3
—
0
18
25
216
1.24
0.32
3.2
3.7
55.9
73.0
e6/l
0.15
15
147
8
61
1.35
0.29
7.4
3.9
—
—
—
0
0
8
61
1.35
0.29
1.3
1.5
—
—
—
0
0
5
37
1.38
0.24
1.0
1.2
—
—
—
0
0
5
37
1.38
0.24
1.8
1.4
—
—
—
0
0
10
124
0.77
0.24
2.3
2.8
494.0
560.4
mosm/kgh2o
—
10
104
5
39
1.30
0.23
1.4
1.3
—
—
—
0
0
5
39
1.30
0.23
1.0
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.9
—
—
—
0
0
0
11
0.00
0.21
0.0
1.8
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.8
—
—
—
0
0
0
10
0.00
0.21
0.0
2.6
—
1.5
—
0
10
0
12
0.00
0.21
0.0
1.8
—
—
—
0
0
0
13
0.00
0.21
0.0
2.7
—
15.9
—
0
7
7
59
1.21
0.18
1.9
1.5
—
—
—
0
0
14
121
1.20
0.16
2.1
1.6
982.8
1159.6
nmol/l
—
9
90
9
81
1.13
0.16
1.1
1.2
—
—
—
0
0
17
187
0.88
0.12
2.9
3.1
96.8
71.8
e6/l
0.13
12
141
5
43
1.18
0.10
1.6
1.2
—
—
—
0
0
18
165
1.12
0.10
3.2
3.7
—
—
—
0
0
6
54
1.12
0.09
1.3
1.4
—
—
—
0
0
8
73
1.11
0.08
1.4
1.5
—
—
—
0
0
21
197
1.09
0.07
5.5
4.4
—
—
—
0
0
9
87
1.04
0.07
1.7
1.7
—
—
—
0
0
19
178
1.09
0.06
3.6
3.2
—
—
—
0
0
18
170
1.08
0.04
2.9
3.0
0.7
0.5
e6/l
0.10
12
126
19
181
1.07
0.03
5.3
3.6
—
—
—
0
0
19
189
1.01
0.00
2.2
2.3
—
—
—
0
0
16
165
0.96
0.00
2.9
2.9
—
—
—
0
0
14
141
0.99
0.00
1.4
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
2.2
—
5.8
—
0
5
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
2.8
—
88.2
—
0
8
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
0.00
0.0
2.7
—
—
—
0
0
0
9
0.00
0.00
0.0
1.3
—
355.4
—
0
9
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
31.9
—
0
8
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.9
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
251.0
—
0
5
0
7
0.00
0.00
0.0
1.1
—
402.4
—
0
7
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
3.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
0
8
0.00
0.00
0.0
5.3
—
—
—
0
0
0
5
0.00
0.00
0.0
4.6
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
2.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
23.6
—
6.4
—
0
7
0
8
0.00
0.00
0.0
1.4
—
—
—
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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