≡ Risteys
R13

Documentation Changelog GitHub Contact & Feedback

Other and unspecified pemphigus

DOID EFO Endpoint Browser PheWeb

L12_PEMPHIGUS_NAS

pemphigus: a rare group of blistering autoimmune diseases that affect the skin and mucous membranes.

Suggest a new description

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 — L10.8, L10.9
  • Hospital discharge: ICD-8 — 69400|69403
  • Cause of death: ICD-10 — L10.8, L10.9
  • Cause of death: ICD-8 — 69400|69403
  • KELA reimbursements: KELA codes — ANY
  • KELA reimbursements: ICD-10 — L10

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

121

4. Check minimum number of events

None

121

5. Include endpoints

None

121

6. Filter based on genotype QC (FinnGen only)

114

Control definitions (FinnGen only)

Control exclude
L12_BULLOUS

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2

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 947 511 427
Only index persons 754 416 338
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.02 0.01
Median age at first event (years)
Whole population 62.24 64.49 59.23
Only index persons 60.83 62.22 59.12

-FinnGen-

Key figures

All Female Male
Number of individuals 114 54 60
Unadjusted period prevalence (%) 0.02 0.02 0.03
Median age at first event (years) 58.23 53.74 62.27

-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

↥

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
121
Matched controls
1210
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
L10.9
ICD-10 Finland
Pemphigus, unspecified
+∞
88.8
74
*
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
11.4
36.5
49
68
L10.8
ICD-10 Finland
Other pemphigus
+∞
35.1
32
*
D07BB04
ATC
hydrocortisone butyrate and antiseptics; topical
7.5
21.9
39
72
D07AD01
ATC
clobetasol; topical
6.2
19.5
44
102
135
Kela drug reimbursment
Pemphigus
+∞
19.3
18
*
L10.0
ICD-10 Finland
Pemphigus vulgaris
209.4
18.0
18
*
L12.0
ICD-10 Finland
Bullous pemphigoid
+∞
17.1
16
*
D07AC01
ATC
betamethasone; topical
4.2
14.1
68
281
J04BA02
ATC
dapsone; oral
+∞
13.8
13
*
69400
ICD-8 Finland
Pemphigus, Vulgaris, vegetans, foliaceus
+∞
13.8
13
*
L04AX01
ATC
azathioprine; systemic
15.5
13.6
22
17
L30.9
ICD-10 Finland
Dermatitis, unspecified
4.5
12.9
42
129
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
3.9
12.4
64
271
H02AB06
ATC
prednisolone; systemic
4.0
12.1
83
424
D07AB08
ATC
desonide; topical
5.0
11.8
30
75
L10.2
ICD-10 Finland
Pemphigus foliaceus
+∞
10.6
10
*
L04AX03
ATC
methotrexate; systemic
4.8
9.8
25
62
D07AC13
ATC
mometasone; topical
3.5
9.6
48
193
TQW80
NOMESCO Finland
Local dermatologic skincare
14.2
8.6
14
11
R21
ICD-10 Finland
Rash and other nonspecific skin eruption
8.2
7.5
16
22
SBA00
NOMESCO Finland
Microbiological examinations
17.1
7.4
11
7
A41.9
ICD-10 Finland
Sepsis, unspecified
9.6
6.7
13
15
XQ848
NOMESCO Finland
Dermatological photography
10.9
6.7
12
12
K13.79
ICD-10 Finland
Change in the oral mucosa UNS
12.0
6.4
11
10
E0000UV, ,
ATC
2.6
6.4
61
337
Q82.80
ICD-10 Finland
Benign familial pemphigus [Hailey-Hailey]
+∞
6.3
6
*
L12.8
ICD-10 Finland
Other pemphigoid
+∞
6.3
6
*
D07AB02
ATC
hydrocortisone butyrate; topical
2.7
6.1
48
240
S97
ICPC
Chronic ulcer skin
4.2
6.1
17
45

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
30
9.70
11.79
1.4
1.2
—
—
—
0
0
86
483
3.70
10.12
13.6
5.7
0.20
0.19
e9/l
0.33
77
427
79
423
3.50
9.99
12.5
5.3
0.70
0.66
%
0.27
73
391
79
432
3.39
9.48
12.5
5.4
2.79
2.65
%
0.22
73
400
80
447
3.33
9.14
13.0
6.0
—
—
—
0
0
82
468
3.33
8.97
13.3
5.5
0.05
0.04
e9/l
1.08
75
405
78
436
3.22
8.78
13.2
5.8
8.99
8.63
%
0.45
72
405
79
447
3.21
8.66
13.0
5.6
25.83
27.14
%
0.52
72
417
81
469
3.20
8.45
13.4
5.5
0.62
0.58
e9/l
0.67
74
405
90
560
3.37
8.18
16.7
9.7
4.48
4.12
e9/l
0.72
79
480
77
441
3.05
8.05
13.0
5.4
60.24
58.00
%
0.87
70
413
81
480
3.08
7.91
13.5
5.5
1.86
1.79
e9/l
0.29
75
429
28
91
3.70
7.60
1.6
2.0
347.11
381.28
nmol/l
0.30
28
82
21
62
3.89
6.49
1.4
2.8
—
—
—
0
0
71
455
2.36
5.01
8.0
6.1
1.19
1.21
mmol/l
1.86
61
383
22
80
3.14
4.93
3.8
3.5
0.58
1.14
%
—
6
28
42
222
2.37
4.54
17.0
7.3
—
—
—
0
0
24
101
2.72
4.14
2.7
1.5
—
—
—
0
0
63
410
2.12
3.99
7.4
5.4
1.19
1.21
mmol/l
1.19
57
375
32
158
2.39
3.98
3.6
3.6
463.17
61.87
ng/l
1.00
24
122
7
8
9.19
3.82
1.7
1.5
—
—
—
0
0
18
71
2.80
3.48
2.4
3.0
67.17
68.88
e9/l
0.08
13
53
64
434
2.01
3.48
18.0
9.6
0.00
0.01
e9/l
0.50
58
349
17
65
2.88
3.48
3.0
2.9
126.06
159.63
ng/l
0.27
17
57
65
453
1.94
3.18
12.0
15.1
1.22
1.27
inr
0.17
22
137
45
279
1.98
3.08
5.2
4.2
7.41
7.40
ph
—
8
60
23
112
2.30
2.91
2.6
1.4
—
—
—
0
0
71
523
1.87
2.81
7.1
6.2
10.09
11.75
umol/l
0.94
66
489
6
10
6.24
2.73
2.7
1.7
—
—
—
0
0
52
354
1.82
2.60
4.1
3.6
21.80
50.44
e6/l
1.20
41
256
41
265
1.83
2.39
3.6
2.9
1708.29
299.71
mg/l
0.40
31
168
40
259
1.81
2.31
7.3
4.2
—
—
—
0
0
5
9
5.74
2.23
1.0
1.0
—
—
—
0
0
5
9
5.74
2.23
1.2
1.3
—
—
—
0
0
73
570
1.71
2.13
7.1
4.3
6.96
6.64
mmol/l
0.56
68
524
25
144
1.93
2.05
4.0
2.0
—
—
—
0
0
81
660
1.69
1.93
5.9
4.2
—
—
—
0
0
41
285
1.66
1.80
4.3
3.6
14.39
9.21
mg/mmol
0.29
30
171
62
481
1.59
1.73
4.3
3.9
0.00
0.00
estimate
-0.00
14
93
61
475
1.57
1.66
5.1
5.4
0.00
0.00
estimate
-0.00
13
91
85
716
1.63
1.64
6.1
4.1
14.87
11.44
mm/h
0.98
75
655
16
85
2.02
1.64
2.8
3.8
—
—
—
0
0
44
319
1.60
1.61
4.0
2.9
124.00
272.45
e6/l
0.30
38
248
10
44
2.39
1.60
5.6
4.4
22.02
24.96
mmol/l
—
10
44
60
472
1.54
1.52
4.4
3.9
0.00
0.00
estimate
-0.00
14
102
39
279
1.59
1.49
4.2
2.8
0.16
0.28
e6/l
0.80
33
209
37
265
1.57
1.40
4.1
2.7
—
—
—
0
0
79
667
1.53
1.40
5.5
4.0
—
—
—
0
0
29
197
1.62
1.36
1.3
1.2
0.86
0.93
u/ml
—
7
53
49
376
1.51
1.36
2.6
1.9
103.32
99.25
pmol/l
0.21
32
189
30
208
1.59
1.30
1.8
1.7
3.05
1.14
mg/l
0.76
25
162
13
70
1.96
1.29
2.7
2.6
11.11
9.78
g/l
0.61
13
63
40
297
1.52
1.28
4.1
3.3
—
—
—
0
0
32
226
1.57
1.28
1.4
1.8
447.73
462.85
pmol/l
0.12
26
192
27
185
1.59
1.22
1.6
1.5
2.45
2.79
g/l
0.27
14
115
34
250
1.50
1.13
5.8
4.2
0.00
0.00
estimate
—
10
90
29
206
1.54
1.13
5.6
3.9
—
—
—
0
0
21
303
0.63
1.11
3.9
4.2
—
—
—
0
0
11
61
1.88
1.02
1.5
1.9
0.69
1.26
g/l
1.69
11
54
12
69
1.82
1.00
5.2
3.5
—
—
—
0
0
34
256
1.46
1.00
4.1
2.8
374.10
10356.06
umol/l
1.78
29
216
7
36
2.00
0.99
2.0
2.2
—
—
—
0
0
6
29
2.12
0.90
3.8
3.4
—
—
—
0
0
6
29
2.12
0.90
1.0
1.2
—
—
—
0
0
8
42
1.97
0.90
1.5
2.3
—
—
—
0
0
14
88
1.67
0.89
3.1
3.7
6.03
5.66
kpa
0.68
14
82
93
849
1.41
0.82
4.8
4.7
1.71
1.95
mu/l
1.74
84
771
91
828
1.40
0.82
28.6
16.9
13.87
15.24
%
5.68
91
819
8
48
1.71
0.80
20.8
6.6
—
—
—
0
0
8
135
0.56
0.79
1.4
1.6
—
—
—
0
0
5
23
2.22
0.77
1.6
5.0
—
—
—
0
0
5
26
1.96
0.71
8.0
2.0
7.42
7.43
ph
—
5
21
27
341
0.73
0.69
3.4
3.0
—
—
—
0
0
78
704
1.30
0.67
3.9
3.9
14.76
14.83
pmol/l
0.08
69
633
5
28
1.82
0.67
1.8
1.5
—
—
—
0
0
18
130
1.45
0.66
1.3
1.3
—
—
—
0
0
24
306
0.73
0.65
3.9
2.2
—
—
—
0
0
8
50
1.64
0.63
2.1
2.9
1.06
0.71
%
—
8
50
23
176
1.38
0.62
2.2
3.2
2.43
2.45
mmol/l
0.45
23
154
5
30
1.69
0.62
1.4
1.2
—
—
—
0
0
11
72
1.58
0.61
13.9
6.4
—
—
—
0
0
100
940
1.37
0.60
25.3
14.6
25.19
24.00
mg/l
0.15
87
738
0
23
0.00
0.59
0.0
1.1
—
—
—
0
0
20
154
1.36
0.53
1.5
1.9
—
—
—
0
0
7
109
0.62
0.51
1.3
1.5
—
—
—
0
0
10
68
1.51
0.48
1.5
1.4
—
—
—
0
0
10
68
1.51
0.48
1.2
1.1
—
—
—
0
0
94
889
1.26
0.43
4.2
4.0
1.41
1.27
mmol/l
1.09
84
810
12
88
1.40
0.42
4.5
3.4
—
—
—
0
0
0
17
0.00
0.41
0.0
1.4
—
—
—
0
0
0
17
0.00
0.41
0.0
1.4
—
—
—
0
0
0
18
0.00
0.40
0.0
1.5
—
—
—
0
0
8
113
0.69
0.39
1.6
1.3
—
—
—
0
0
9
67
1.37
0.39
7.6
3.9
—
—
—
0
0
6
42
1.45
0.36
3.5
3.2
7.38
259.18
u/ml
—
6
34
15
119
1.30
0.33
14.0
4.6
102.67
103.68
mmol/l
0.26
15
119
102
985
1.23
0.29
18.8
13.7
—
—
—
0
0
21
246
0.82
0.29
1.2
1.4
—
—
—
0
0
96
923
1.19
0.28
4.6
4.4
1.36
1.46
mmol/l
1.67
89
849
8
64
1.27
0.28
3.1
2.3
—
—
—
0
0
9
73
1.25
0.26
1.3
1.5
—
—
—
0
0
96
929
1.16
0.22
4.6
4.5
4.58
4.58
mmol/l
0.01
90
859
11
89
1.26
0.21
1.8
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.8
—
—
—
0
0
20
174
1.18
0.21
1.3
1.3
20.80
26.85
iu/ml
—
5
58
0
12
0.00
0.21
0.0
1.5
—
—
—
0
0
0
12
0.00
0.21
0.0
2.3
—
—
—
0
0
0
12
0.00
0.21
0.0
2.6
—
—
—
0
0
10
80
1.27
0.21
1.9
1.4
—
—
—
0
0
106
1035
1.19
0.20
37.6
21.4
260.71
243.42
e9/l
1.17
101
1015
102
995
1.16
0.18
30.9
17.3
83.13
79.35
umol/l
0.57
102
995
106
1037
1.18
0.18
38.7
21.4
39.02
39.98
%
0.66
97
992
106
1037
1.18
0.18
37.7
21.3
4.37
4.49
e12/l
1.29
101
1013
106
1037
1.18
0.18
37.5
21.3
7.21
6.64
e9/l
2.05
101
1014
7
61
1.16
0.18
1.4
1.2
—
—
—
0
0
5
65
0.76
0.17
1.0
1.2
—
—
—
0
0
28
255
1.13
0.17
1.9
1.6
1.67
1.29
mmol/l
1.03
23
208
6
77
0.77
0.16
1.0
1.7
—
—
—
0
0
18
160
1.15
0.15
3.7
2.7
1.70
1.84
e6/l
—
10
92
97
947
1.12
0.15
5.1
5.0
2.66
2.67
mmol/l
0.04
90
870
18
166
1.10
0.08
1.3
1.4
22.57
8.22
u/ml
—
7
68
93
914
1.08
0.08
4.4
4.8
6.09
5.97
mmol/l
0.41
86
844
8
74
1.09
0.07
2.1
3.1
3.51
4.34
kpa
—
8
68
41
394
1.06
0.07
4.0
4.1
97.11
45.15
ng/l
0.42
33
286
10
89
1.13
0.07
4.0
4.1
—
—
—
0
0
39
381
1.03
0.02
2.2
2.1
—
—
—
0
0
12
126
0.95
0.00
1.2
1.2
—
—
—
0
0
29
287
1.01
0.00
3.2
3.5
—
—
—
0
0
22
225
0.97
0.00
3.3
2.9
0.76
0.69
ug/l
0.08
15
146
0
5
0.00
-0.00
0.0
16.4
—
791.60
—
0
5
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.9
—
—
—
0
0
9
91
0.99
-0.00
1.6
1.9
—
—
—
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
5
51
0.98
-0.00
2.0
4.9
—
—
—
0
0
7
76
0.92
-0.00
1.1
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
18.0
—
1664.60
—
0
5
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
52
0.96
-0.00
1.2
2.9
0.92
1.15
%
—
5
52
0
5
0.00
-0.00
0.0
1.6
—
0.85
—
0
5
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0

Mortality – FinRegistry

↥

Association

Association between endpoint L12_PEMPHIGUS_NAS and mortality.

Females

Parameter HR [95% CI] p-value
L12_PEMPHIGUS_NAS 1.776 [1.31, 2.42] < 0.001
Birth year 0.994 [0.99, 1.0] 0.151

During the follow-up period (1.1.1998 — 31.12.2019), 128 out of 395 females with L12_PEMPHIGUS_NAS died.

Males

Parameter HR [95% CI] p-value
L12_PEMPHIGUS_NAS 2.465 [1.66, 3.65] < 0.001
Birth year 0.987 [0.98, 1.0] 0.015

During the follow-up period (1.1.1998 — 31.12.2019), 119 out of 329 males with L12_PEMPHIGUS_NAS died.

Mortality risk

Mortality risk for people of age

years, who have L12_PEMPHIGUS_NAS.

N-year risk Females Males
1 0.127% 0.394%
5 0.996% 2.721%
10 2.44% 6.725%
15 4.76% 12.756%
20 7.928% 21.022%

Relationships between endpoints

↥

Index endpoint: L12_PEMPHIGUS_NAS – Other and unspecified pemphigus

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
loading spinner Loading data