pemphigus: a rare group of blistering autoimmune diseases that affect the skin and mucous membranes.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
219 |
4. Check minimum number of eventsNone |
219 |
5. Include endpoints |
243 |
6. Filter based on genotype QC (FinnGen only) |
243 |
Control definitions (FinnGen only)
- Control exclude
- L12_BULLOUS
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- L10-L14
- Name in latin
- Pemphigus
Similar endpoints
↥List of similar endpoints to
Pemphigus
based on the number of shared cases.
Similar with more cases:
- Bullous disorders
- Diseases of the skin and subcutaneous tissue
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2071 | 1164 | 893 |
| Only index persons | 1659 | 955 | 704 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.03 | 0.03 | 0.02 |
| Only index persons | 0.03 | 0.04 | 0.03 |
| Median age at first event (years) | |||
| Whole population | 60.97 | 62.71 | 58.53 |
| Only index persons | 58.01 | 59.23 | 56.35 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 243 | 131 | 112 |
| Unadjusted period prevalence (%) | 0.05 | 0.04 | 0.05 |
| Median age at first event (years) | 57.22 | 53.28 | 61.83 |
-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
- 217
- Matched controls
- 2170
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
L10.0
ICD-10 Finland
Pemphigus vulgaris
+∞
74.3
67
*
L10.9
ICD-10 Finland
Pemphigus, unspecified
+∞
69.6
63
*
L10.2
ICD-10 Finland
Pemphigus foliaceus
+∞
32.1
30
*
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
8.8
29.5
69
109
L10.8
ICD-10 Finland
Other pemphigus
281.0
25.2
25
*
L10.4
ICD-10 Finland
Pemphigus erythematosus
+∞
24.4
23
*
L04AX01
ATC
azathioprine; systemic
11.6
22.1
42
44
L12.0
ICD-10 Finland
Bullous pemphigoid
+∞
21.2
20
*
135
Kela drug reimbursment
Pemphigus
+∞
20.1
19
*
H02AB06
ATC
prednisolone; systemic
3.9
19.9
143
720
D07AD01
ATC
clobetasol; topical
4.9
18.9
71
196
D07AC01
ATC
betamethasone; topical
3.8
18.9
112
471
D07BB04
ATC
hydrocortisone butyrate and antiseptics; topical
5.4
17.7
58
137
J04BA02
ATC
dapsone; oral
48.8
15.3
18
*
L10.1
ICD-10 Finland
Pemphigus vegetans
+∞
14.7
14
*
69400
ICD-8 Finland
Pemphigus, Vulgaris, vegetans, foliaceus
+∞
13.7
13
*
L30.9
ICD-10 Finland
Dermatitis, unspecified
3.9
13.5
62
201
D07AB08
ATC
desonide; topical
4.2
10.5
41
113
D07AC13
ATC
mometasone; topical
2.7
10.0
82
393
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
2.6
10.0
95
496
L04AX03
ATC
methotrexate; systemic (immunosuppressants)
3.7
8.4
37
113
E0000UV
ATC
NA
2.4
8.2
99
568
E000001
ATC
NA
2.8
8.1
58
251
D07AB02
ATC
hydrocortisone butyrate; topical
2.5
8.0
77
393
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.3
7.8
110
676
L10.3
ICD-10 Finland
Brazilian pemphigus [fogo selvagem]
+∞
7.3
7
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
2.9
7.3
45
177
L40.0
ICD-10 Finland
Psoriasis vulgaris
5.3
7.2
21
43
L04AA06
ATC
mycophenolic acid; systemic
9.3
7.2
14
16
R21
ICD-10 Finland
Rash and other nonspecific skin eruption
5.2
7.1
21
44
D07CC01
ATC
betamethasone and antibiotics; topical
3.0
6.8
41
157
WZB00
NOMESCO Finland
Telephone receipt or other advice
2.4
6.7
69
359
D07XC01
ATC
betamethasone, combinations; topical
3.0
6.5
40
154
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
2.9
6.4
40
158
SBA00
NOMESCO Finland
Microbiological examinations
7.4
6.3
14
20
L12.9
ICD-10 Finland
Pemphigoid, unspecified
+∞
6.3
6
*
WZC10
NOMESCO Finland
Extensive specialist consultion with written report
5.2
6.2
18
37
L30.0
ICD-10 Finland
Nummular dermatitis
5.5
6.2
17
33
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
4.0
6.0
23
63
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
52
9
72.96
46.54
1.8
1.1
19.3
—
u/ml
—
16
0
165
1146
2.37
8.97
15.1
9.0
4.3
4.2
e9/l
0.28
148
1010
39
157
2.77
7.03
1.9
2.6
67.0
66.2
g/l
0.31
34
148
35
147
2.61
5.79
9.7
6.3
11.2
9.9
mmol/l
0.55
35
141
80
491
1.94
5.23
2.8
1.9
2.5
3.1
mg/l
2.14
71
418
132
962
1.81
4.94
7.8
5.8
1.2
1.2
mmol/l
0.88
113
823
43
214
2.23
4.90
1.7
1.8
—
—
—
0
0
10
20
5.17
4.82
1.8
1.2
—
—
—
0
0
16
49
3.42
4.55
1.8
1.4
—
—
—
0
0
32
145
2.39
4.51
2.5
2.9
51.1
63.8
ml/min/173m2
0.89
13
54
54
305
1.99
4.42
1.8
1.9
—
—
—
0
0
41
209
2.16
4.40
1.8
1.8
—
—
—
0
0
120
873
1.74
4.33
7.3
5.1
1.2
1.2
mmol/l
0.26
109
798
39
198
2.16
4.22
5.2
3.4
—
—
—
0
0
178
1460
1.82
4.11
5.7
4.1
15.1
12.1
mm/h
1.65
164
1333
21
85
2.61
3.74
2.3
2.0
—
—
—
0
0
14
46
3.17
3.59
1.9
1.2
—
—
—
0
0
60
380
1.77
3.39
2.0
1.6
1257.3
1248.1
nmol/l
0.02
52
290
133
1040
1.62
3.34
5.9
5.9
10.7
11.1
umol/l
0.25
126
980
179
1519
1.68
3.13
10.4
7.1
77.0
77.4
u/l
0.04
171
1416
112
851
1.59
3.10
4.8
4.2
33.5
35.6
g/l
2.85
104
801
8
16
5.13
3.07
1.5
1.4
—
—
—
0
0
71
489
1.64
2.92
1.8
1.6
18.6
21.6
nmol/l
0.98
66
411
26
132
2.09
2.83
2.8
2.5
143.9
188.6
ng/l
0.40
26
117
12
42
2.95
2.79
1.2
1.4
—
—
—
0
0
12
42
2.95
2.79
1.2
1.4
—
—
—
0
0
13
48
2.80
2.76
1.8
1.2
—
—
—
0
0
62
419
1.64
2.73
2.5
1.8
3.6
1.2
mg/l
0.85
48
331
42
255
1.78
2.72
4.0
2.4
20.2
22.4
%
0.49
36
224
9
25
3.70
2.60
1.4
1.4
—
—
—
0
0
7
16
4.47
2.49
1.1
1.1
—
—
—
0
0
35
211
1.77
2.32
1.5
2.4
4.8
8.8
umol/l
2.10
29
184
141
1174
1.48
2.32
6.3
4.1
6.9
6.7
mmol/l
0.65
130
1086
102
798
1.48
2.29
2.3
2.0
98.8
94.7
pmol/l
0.36
60
414
9
29
3.18
2.25
1.4
1.7
—
—
—
0
0
118
954
1.46
2.23
4.7
3.8
0.0
0.0
estimate
0.00
24
185
5
9
5.64
2.22
2.0
2.3
—
—
—
0
0
53
363
1.59
2.19
3.5
3.5
422.5
136.4
ng/l
0.62
41
283
24
131
1.92
2.17
1.9
1.5
—
—
—
0
0
10
37
2.78
2.13
8.6
3.1
63.5
59.1
%
—
10
37
119
972
1.44
2.09
4.6
3.8
0.0
0.0
estimate
0.00
26
174
49
335
1.58
2.04
1.3
1.3
23.8
34.1
iu/ml
0.55
13
111
15
70
2.22
2.03
1.2
2.1
—
—
—
0
0
117
958
1.43
2.00
5.6
5.2
0.0
0.0
estimate
0.00
25
183
7
21
3.40
1.98
1.1
1.1
—
—
—
0
0
15
71
2.19
1.96
2.7
2.6
—
—
—
0
0
104
836
1.43
1.96
3.8
2.6
151.0
111.7
ug/l
1.41
97
764
59
425
1.51
1.95
2.1
1.8
434.7
449.8
pmol/l
0.16
53
355
68
506
1.48
1.92
5.6
4.2
0.0
0.0
estimate
0.00
22
177
12
52
2.38
1.91
1.6
1.2
—
—
—
0
0
11
46
2.46
1.88
1.1
1.2
—
1.0
—
0
6
92
730
1.42
1.84
5.1
3.2
—
—
—
0
0
99
796
1.41
1.84
2.1
2.2
74.6
77.0
nmol/l
0.43
89
705
5
12
4.23
1.83
1.8
1.4
—
—
—
0
0
9
35
2.63
1.82
1.3
1.7
—
—
—
0
0
8
29
2.82
1.81
1.3
1.7
—
—
—
0
0
6
19
3.21
1.67
1.0
1.2
—
—
—
0
0
67
510
1.43
1.67
3.6
2.9
6278.7
10562.7
umol/l
0.29
60
439
56
412
1.47
1.66
1.4
1.2
0.8
1.8
u/ml
1.09
11
112
12
56
2.20
1.64
1.3
1.7
—
—
—
0
0
73
571
1.40
1.55
5.1
3.2
0.7
0.4
e6/l
0.50
59
429
81
646
1.38
1.53
2.9
3.3
2.3
2.4
mmol/l
2.63
73
566
27
173
1.63
1.48
6.7
4.8
1.3
1.3
mmol/l
0.06
27
161
7
29
2.45
1.40
1.1
1.1
238.6
248.2
u/ml
—
7
19
188
1723
1.40
1.40
24.7
14.7
39.3
39.8
%
0.37
136
1250
9
41
2.24
1.38
1.4
1.7
—
—
—
0
0
9
43
2.13
1.31
1.4
1.7
—
—
—
0
0
9
44
2.08
1.28
1.7
1.4
—
—
—
0
0
207
1941
1.45
1.24
22.8
14.3
24.7
23.1
mg/l
0.30
181
1537
10
49
2.09
1.24
1.1
1.3
—
—
—
0
0
8
37
2.20
1.22
1.8
1.5
—
—
—
0
0
29
200
1.51
1.19
1.7
1.7
1.5
1.5
%
0.00
24
180
7
31
2.29
1.11
1.1
1.2
—
—
—
0
0
5
21
2.41
1.09
1.0
1.5
—
—
—
0
0
18
113
1.64
1.09
1.7
1.8
—
—
—
0
0
45
346
1.37
1.05
3.8
2.9
0.8
0.9
e6/l
0.20
28
194
42
320
1.38
1.04
1.3
1.3
24.2
8.1
u/ml
0.71
14
121
131
1167
1.27
1.03
3.1
2.9
—
—
—
0
0
9
159
0.55
1.02
1.1
1.7
—
—
—
0
0
18
116
1.60
1.00
1.4
1.4
—
—
—
0
0
9
49
1.87
1.00
1.3
1.1
—
—
—
0
0
74
618
1.28
0.98
3.9
2.3
51.8
56.4
u/l
0.81
68
575
30
219
1.42
0.95
9.0
5.2
-0.6
1.2
mmol/l
0.63
23
177
6
27
2.25
0.94
1.3
1.7
—
—
—
0
0
159
1460
1.26
0.92
4.1
3.9
14.7
14.8
pmol/l
0.05
145
1315
6
29
2.10
0.90
2.7
1.2
—
107.8
—
0
6
6
30
2.02
0.87
1.3
1.7
—
—
—
0
0
8
45
1.80
0.85
1.0
1.3
—
—
—
0
0
6
31
1.96
0.85
1.0
1.1
—
—
—
0
0
191
1800
1.29
0.85
6.6
5.9
40.9
40.1
mmol/mol
0.46
183
1668
215
2060
1.38
0.83
17.7
10.1
24.9
24.9
u/l
0.00
207
1983
25
182
1.42
0.82
3.8
3.7
0.1
1.9
mmol/l
1.15
20
136
48
392
1.28
0.76
2.4
2.9
2.4
2.5
mmol/l
0.54
43
347
7
42
1.69
0.69
1.3
1.5
—
—
—
0
0
32
255
1.29
0.62
22.5
23.2
1.2
1.3
inr
—
7
31
40
334
1.24
0.54
3.7
3.0
2.0
2.0
e6/l
0.01
22
184
211
2041
1.26
0.54
28.4
16.9
80.0
78.2
umol/l
0.37
211
2041
6
100
0.59
0.53
1.0
1.0
—
—
—
0
0
83
748
1.17
0.51
5.2
4.0
—
—
—
0
0
48
554
0.83
0.50
4.9
4.5
21.2
21.6
%
0.06
18
265
186
1783
1.18
0.49
4.9
4.7
1.9
1.9
mu/l
0.02
171
1618
38
320
1.22
0.48
1.9
1.5
—
—
—
0
0
191
1836
1.19
0.48
23.1
13.6
77.5
80.0
ml/min/173m2
0.73
163
1521
23
184
1.28
0.45
4.1
3.7
5.8
5.7
kpa
0.39
23
176
8
59
1.37
0.41
1.3
1.2
—
—
—
0
0
8
59
1.37
0.41
1.3
1.2
—
—
—
0
0
36
415
0.84
0.38
3.4
3.1
0.8
0.8
ug/l
0.08
19
259
5
37
1.36
0.37
11.2
2.3
16.7
15.9
%
—
5
18
16
201
0.78
0.37
1.7
2.1
—
—
—
0
0
84
774
1.13
0.37
3.9
4.0
43.1
39.3
ng/l
0.10
62
550
7
53
1.33
0.31
3.0
1.4
—
—
—
0
0
15
185
0.80
0.31
1.8
2.0
—
—
—
0
0
7
55
1.28
0.30
1.1
1.6
—
—
—
0
0
8
106
0.75
0.29
2.0
2.7
1.2
1.3
%
—
8
106
9
74
1.22
0.25
2.3
2.2
—
—
—
0
0
98
932
1.09
0.23
4.4
4.0
—
—
—
0
0
5
40
1.26
0.22
1.6
1.1
19.4
22.2
e6/l
—
5
27
5
40
1.26
0.22
1.6
1.3
160.6
171.6
e6/l
—
5
29
0
11
0.00
0.21
0.0
4.3
—
215.9
—
0
11
0
10
0.00
0.21
0.0
2.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.9
—
—
—
0
0
0
12
0.00
0.21
0.0
1.9
—
—
—
0
0
0
12
0.00
0.21
0.0
1.9
—
—
—
0
0
0
12
0.00
0.21
0.0
1.9
—
—
—
0
0
32
288
1.13
0.21
1.2
1.5
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
65
691
0.92
0.20
4.7
5.0
1.9
2.7
ug/l
0.72
57
612
11
90
1.23
0.19
1.3
1.4
—
—
—
0
0
55
514
1.09
0.19
1.8
1.6
1.6
1.4
mmol/l
0.83
43
426
14
119
1.19
0.18
12.1
5.6
24.0
24.6
mmol/l
0.24
14
114
8
70
1.15
0.16
1.9
1.9
—
—
—
0
0
184
1873
0.93
0.16
4.6
4.7
6.0
6.0
mmol/l
0.35
172
1709
7
87
0.80
0.15
1.6
1.6
—
—
—
0
0
5
44
1.14
0.10
1.6
1.7
—
—
—
0
0
184
1818
1.05
0.09
4.1
4.1
1.3
1.3
mmol/l
0.69
170
1657
7
81
0.86
0.07
1.6
1.8
—
—
—
0
0
191
1896
1.03
0.05
4.5
4.6
4.7
4.6
mmol/l
0.32
177
1750
190
1886
1.03
0.05
4.4
4.5
1.4
1.5
mmol/l
0.28
177
1725
193
1938
0.98
0.01
5.0
5.1
2.7
2.7
mmol/l
0.04
179
1775
10
102
0.98
0.00
1.9
1.9
—
—
—
0
0
16
159
1.01
0.00
2.8
2.9
4.0
4.4
kpa
0.44
16
149
23
229
1.00
0.00
11.0
7.6
—
—
—
0
0
46
465
0.99
0.00
3.3
2.3
—
—
—
0
0
0
5
0.00
0.00
0.0
2.2
—
1.2
—
0
5
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
10.6
—
0
5
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
0
9
0.00
0.00
0.0
1.8
—
66.0
—
0
9
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
0.00
0.0
2.7
—
—
—
0
0
13
130
1.00
0.00
1.5
1.2
127.7
147.7
iu/ml
—
6
51
5
54
0.92
0.00
1.2
1.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
0.00
0.0
2.1
—
—
—
0
0
0
9
0.00
0.00
0.0
2.1
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint L12_PEMPHIGUS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| L12_PEMPHIGUS | 1.626 [1.33, 1.99] | < 0.001 |
| Birth year | 0.998 [0.99, 1.01] | 0.595 |
During the follow-up period (1.1.1998 — 31.12.2019), 277 out of 914 females with L12_PEMPHIGUS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| L12_PEMPHIGUS | 1.956 [1.45, 2.64] | < 0.001 |
| Birth year | 0.986 [0.98, 1.0] | 0.004 |
During the follow-up period (1.1.1998 — 31.12.2019), 244 out of 706 males with L12_PEMPHIGUS died.
Mortality risk
Mortality risk for people of age
years, who have L12_PEMPHIGUS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.18% | 0.394% |
| 5 | 1.082% | 2.301% |
| 10 | 2.535% | 5.646% |
| 15 | 4.777% | 10.27% |
| 20 | 8.552% | 17.108% |
Relationships between endpoints
↥Index endpoint: L12_PEMPHIGUS – Pemphigus
GWS hits: 1
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
Loading data