Adrenogenital disorders

E4_ADRENOGEN

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 E25
  • Hospital discharge: ICD-9 2552
  • Hospital discharge: ICD-8 2550[1-2]
  • Cause of death: ICD-10 E25
  • Cause of death: ICD-9 2552
  • Cause of death: ICD-8 2550[1-2]

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

165

4. Check minimum number of events

None

165

5. Include endpoints

None

165

6. Filter based on genotype QC (FinnGen only)

165

Control definitions (FinnGen only)

Control exclude
E4_ENDOGLAND

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E20-E35
Name in latin
Perturbationes adrenogenitales

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 1321 789 518
Only index persons 1074 671 403
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.01
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population 53.68 48.68 61.35
Only index persons 49.85 44.47 58.80

-FinnGen-

Key figures

All Female Male
Number of individuals 165 101 64
Unadjusted period prevalence (%) 0.03 0.03 0.03
Median age at first event (years) 50.92 45.35 59.71

-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
148
Matched controls
1479
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E25.9
ICD-10 Finland
Adrenogenital disorder, unspecified
+∞
68.1
60
*
E25.00
ICD-10 Finland
Congenital salt-losing adrenal hyperplasia
+∞
42.8
39
*
E25.01
ICD-10 Finland
Congenital adrenal hyperplasia
+∞
41.6
38
*
105
Kela drug reimbursment
Adrenal cortical hypofunction
+∞
26.9
25
*
H02AB09
ATC
hydrocortisone; systemic
44.6
21.6
26
7
E25.8
ICD-10 Finland
Other adrenogenital disorders
+∞
19.2
18
*
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
34.6
16.6
21
7
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
11.6
16.4
31
33
H02AA02
ATC
fludrocortisone; oral
36.0
15.2
19
6
A11CC03
ATC
alfacalcidol; systemic
24.2
15.2
21
10
E25.0
ICD-10 Finland
Congenital adrenogenital disorders associated with enzyme deficiency
+∞
13.8
13
*
E21.09
ICD-10 Finland
Other primary hyperparathyroidism
153.5
13.7
14
*
A12AA04
ATC
calcium carbonate; oral
44.4
13.4
16
*
E27.1
ICD-10 Finland
Primary adrenocortical insufficiency
+∞
11.6
11
*
25502
ICD-8 Finland
Diseases of adrenal glands, Virilismus adrenocorticalis
+∞
10.5
10
*
I25.9
ICD-10 Finland
Chronic ischaemic heart disease, unspecified
4.9
10.1
34
84
206
Kela drug reimbursment
Chronic coronary artery disease and dyslipidaemia associated with chronic coronary artery disease
3.7
9.0
43
147
E27.4
ICD-10 Finland
Other and unspecified adrenocortical insufficiency
+∞
8.4
8
*
2552A
ICD-9 Finland
Disorders of adrenal glands, Adrenogenital disorders[SYNDROMA ADRENOGENITALE CONGENITUM]
+∞
8.4
8
*
I25.1
ICD-10 Finland
Atherosclerotic heart disease
3.3
8.1
47
184
Z49.1
ICD-10 Finland
Extracorporeal dialysis
47.5
7.8
9
*
TK800
NOMESCO Finland
Hemodialysis
19.6
7.7
11
6
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
6.1
7.6
20
37
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.9
7.5
53
238
138
Kela drug reimbursment
Severe anaemia associated with chronic renal failure
16.8
7.3
11
7
321
Kela drug reimbursment
Paricalcitol and cinacalcet
+∞
7.3
7
*
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
3.2
7.3
43
170
V03AE01
ATC
polystyrene sulfonate; oral
31.7
7.2
9
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
3.6
7.0
33
110
A09
ICD-10 Finland
Other gastroenteritis and colitis of infectious and unspecified origin
3.2
7.0
39
148
N03AX16
ATC
pregabalin; oral
3.1
6.9
41
161
I15.1
ICD-10 Finland
Hypertension secondary to other renal disorders
17.7
6.8
10
6
I20.81
ICD-10 Finland
Other angina pectoris stenosed coronary artery
4.9
6.7
21
48
N18.8
ICD-10 Finland
Other chronic renal failure
10.8
6.7
12
12
E11.2
ICD-10 Finland
Type 2 diabetes mellitus, with renal complications
10.8
6.7
12
12
E11.7
ICD-10 Finland
Type 2 diabetes mellitus, with multiple complications
6.5
6.5
16
27
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.6
6.5
29
93
R53
ICD-10 Finland
Malaise and fatigue
2.8
6.4
45
198
127
Kela drug reimbursment
Transplant complication
28.0
6.3
8
*
L04AA06
ATC
mycophenolic acid; systemic
28.0
6.3
8
*
E21.3
ICD-10 Finland
Hyperparathyroidism, unspecified
+∞
6.3
6
*
196
Kela drug reimbursment
Paricalcitol and cinacalcet
+∞
6.3
6
*

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
11
25.36
32.78
3.3
1.5
—
—
—
0
0
21
0
+∞
22.40
8.3
0.0
68.8
—
nmol/l
—
21
0
85
359
3.82
16.29
9.3
3.9
7.4
7.4
ph
0.01
23
63
37
89
5.07
15.07
6.8
3.7
162.0
76.3
ng/l
1.86
28
77
107
591
3.31
12.30
15.9
6.2
1.2
1.2
mmol/l
0.62
86
497
103
566
3.18
11.76
12.7
5.0
1.2
1.2
mmol/l
0.34
97
501
18
34
5.82
9.39
2.6
1.2
7.6
7.2
u/l
0.05
11
29
19
38
5.52
9.34
3.3
2.5
—
—
—
0
0
53
261
2.52
6.63
4.1
2.8
506.1
547.8
mosm/kgh2o
0.80
45
224
64
350
2.35
6.32
4.6
2.8
—
—
—
0
0
11
22
5.29
5.34
5.7
8.7
—
—
—
0
0
46
235
2.33
5.18
1.8
1.7
1056.2
1174.1
nmol/l
0.28
41
170
28
118
2.65
4.71
5.3
3.6
—
—
—
0
0
60
355
2.08
4.64
5.2
2.9
0.3
0.5
e6/l
0.71
48
255
65
401
2.02
4.45
5.1
3.1
37.1
224.2
e6/l
0.58
51
298
20
77
2.82
3.98
4.4
3.4
—
—
—
0
0
23
97
2.59
3.85
11.6
6.1
—
—
—
0
0
66
427
1.91
3.83
8.3
5.4
—
—
—
0
0
70
465
1.88
3.73
15.6
8.8
1.2
1.2
inr
0.00
23
139
69
472
1.79
3.25
5.6
3.8
78.9
79.3
e6/l
0.00
52
315
79
569
1.75
3.07
16.8
9.4
0.0
0.0
e9/l
0.49
65
457
78
560
1.75
3.07
8.6
6.0
0.7
0.6
%
0.20
73
519
51
323
1.84
3.06
5.6
4.0
25.3
11.5
mg/mmol
0.87
38
207
54
349
1.81
3.03
8.7
4.2
—
—
—
0
0
80
582
1.73
2.98
8.5
5.7
58.0
57.8
%
0.06
75
543
8
17
4.89
2.96
9.1
2.5
—
—
—
0
0
48
303
1.82
2.90
5.0
3.1
1541.5
61.3
mg/l
0.51
37
191
79
576
1.71
2.90
8.6
5.8
2.7
2.6
%
0.08
74
535
94
721
1.71
2.84
7.7
4.2
7.2
6.5
mmol/l
1.54
89
663
8
18
4.61
2.83
3.5
1.6
88.3
89.3
%
—
8
18
79
579
1.70
2.82
8.7
6.1
8.5
8.6
%
0.13
74
541
27
141
2.09
2.81
2.7
2.9
1.8
1.7
%
0.39
27
121
53
348
1.77
2.80
5.1
3.0
6.9
7.5
mmol/l
0.40
48
291
80
591
1.69
2.76
8.7
5.9
27.2
27.8
%
0.18
75
551
26
135
2.10
2.74
1.2
1.2
—
—
—
0
0
67
476
1.69
2.65
2.6
2.0
90.9
94.7
pmol/l
0.30
38
239
31
176
1.94
2.57
2.0
2.0
29.6
29.6
s
0.01
31
170
83
628
1.65
2.55
8.2
5.7
0.6
0.6
e9/l
0.13
70
545
83
629
1.64
2.53
8.2
5.7
0.0
0.0
e9/l
0.11
70
547
84
643
1.62
2.43
9.1
5.7
1.9
1.8
e9/l
0.09
74
574
84
646
1.61
2.36
9.5
6.0
0.2
0.2
e9/l
0.32
73
573
58
410
1.64
2.28
4.0
3.4
—
—
—
0
0
36
224
1.78
2.24
6.2
3.2
36.8
107.1
ng/l
1.05
29
172
92
737
1.56
2.09
12.1
9.4
4.2
4.1
e9/l
0.05
79
645
5
10
5.12
2.08
5.2
4.8
—
—
—
0
0
5
10
5.12
2.08
1.4
2.1
—
—
—
0
0
84
660
1.56
2.07
7.0
5.7
9.8
10.2
umol/l
0.25
84
619
11
44
2.61
2.06
1.9
2.5
—
—
—
0
0
25
143
1.88
2.03
2.2
1.6
—
—
—
0
0
40
270
1.64
1.85
1.8
1.8
0.8
1.4
mg/l
0.89
32
209
7
23
3.13
1.82
2.3
2.1
4.0
4.5
e9/l
—
7
23
7
23
3.13
1.82
2.3
2.8
61.6
59.5
%
—
7
23
20
112
1.89
1.74
5.6
3.8
—
—
—
0
0
25
154
1.73
1.62
2.3
1.7
—
—
—
0
0
28
179
1.68
1.59
2.5
1.9
—
—
—
0
0
45
326
1.52
1.54
7.0
6.9
—
—
—
0
0
5
15
3.40
1.53
1.6
1.7
29.0
32.1
pg
—
5
15
7
27
2.66
1.53
1.4
1.8
—
—
—
0
0
17
96
1.86
1.45
1.7
1.6
—
—
—
0
0
102
879
1.42
1.36
7.0
4.6
—
—
—
0
0
6
24
2.55
1.31
1.0
1.3
—
—
—
0
0
106
923
1.42
1.31
5.4
3.9
15.3
11.7
mm/h
1.41
101
825
57
446
1.42
1.31
6.5
3.4
2.3
2.4
mmol/l
0.67
52
386
10
48
2.15
1.30
1.7
1.2
—
—
—
0
0
5
18
2.83
1.29
1.0
1.2
—
—
—
0
0
24
159
1.60
1.20
1.2
1.2
—
—
—
0
0
11
57
2.00
1.20
16.9
6.6
—
—
—
0
0
9
46
2.01
1.05
1.9
1.1
—
—
—
0
0
15
91
1.71
1.04
8.9
4.0
5.1
5.1
kpa
0.12
15
82
48
379
1.38
1.02
3.8
2.2
56.0
56.0
u/l
0.00
43
350
13
76
1.77
1.02
5.8
3.7
—
—
—
0
0
11
61
1.86
1.01
10.5
4.6
—
—
—
0
0
0
30
0.00
0.98
0.0
1.5
—
—
—
0
0
0
30
0.00
0.98
0.0
1.5
—
—
—
0
0
0
32
0.00
0.96
0.0
1.6
—
—
—
0
0
95
839
1.31
0.93
4.7
3.8
—
—
—
0
0
6
28
2.18
0.92
11.3
2.8
—
—
—
0
0
6
31
1.97
0.85
1.3
1.1
—
—
—
0
0
27
203
1.39
0.77
1.4
1.3
31.9
38.7
iu/ml
—
6
59
34
268
1.34
0.73
7.1
5.1
—
—
—
0
0
15
101
1.53
0.73
12.1
5.1
1.1
1.3
mmol/l
0.50
15
96
25
191
1.36
0.66
1.2
1.3
1.3
10.9
u/ml
—
9
71
72
635
1.24
0.65
6.3
5.2
0.0
0.0
estimate
0.00
21
120
5
30
1.69
0.62
1.4
1.2
—
—
—
0
0
0
20
0.00
0.61
0.0
1.2
—
—
—
0
0
0
20
0.00
0.61
0.0
1.2
—
—
—
0
0
105
970
1.23
0.58
5.0
3.9
14.9
14.8
pmol/l
0.28
100
857
41
347
1.24
0.53
3.9
4.3
0.0
0.0
estimate
0.00
20
114
52
452
1.22
0.52
6.8
3.9
37.3
48.6
ng/l
0.42
41
309
14
103
1.39
0.47
1.4
1.4
—
—
—
0
0
19
148
1.32
0.46
1.4
1.4
—
—
—
0
0
70
635
1.18
0.44
4.5
3.9
0.0
0.0
estimate
0.00
22
120
0
15
0.00
0.41
0.0
1.0
—
1.6
—
0
6
0
17
0.00
0.41
0.0
2.0
—
—
—
0
0
5
34
1.48
0.40
1.2
1.2
—
—
—
0
0
70
642
1.16
0.37
4.5
4.0
0.0
0.0
estimate
0.00
22
113
40
351
1.18
0.36
5.0
3.4
—
—
—
0
0
137
1324
1.20
0.35
24.6
12.7
—
—
—
0
0
15
118
1.30
0.35
1.1
1.1
—
—
—
0
0
13
101
1.31
0.33
4.5
3.8
—
—
—
0
0
34
298
1.18
0.32
2.8
4.0
—
—
—
0
0
12
93
1.31
0.31
1.4
1.4
—
—
—
0
0
37
414
0.86
0.29
3.1
2.8
—
—
—
0
0
35
311
1.16
0.28
1.5
1.2
1.4
1.1
u/ml
—
8
77
44
398
1.14
0.28
3.1
2.1
—
—
—
0
0
14
113
1.26
0.27
18.0
4.6
—
—
—
0
0
12
149
0.79
0.27
1.7
1.5
—
—
—
0
0
10
77
1.32
0.27
1.9
1.8
1.1
1.6
g/l
—
10
70
9
75
1.21
0.25
1.1
1.2
—
—
—
0
0
30
336
0.87
0.24
1.4
1.4
—
—
—
0
0
5
37
1.36
0.24
3.0
2.6
26.2
24.1
mmol/l
—
5
30
124
1203
1.12
0.22
5.1
4.2
4.4
4.6
mmol/l
1.67
118
1106
24
211
1.16
0.22
2.7
1.7
—
—
—
0
0
5
41
1.23
0.22
1.4
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
2.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
285.3
—
0
10
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
1.1
—
0
5
6
50
1.21
0.20
2.0
1.8
—
—
—
0
0
31
281
1.13
0.19
1.6
1.5
2.4
2.5
g/l
0.12
18
158
130
1269
1.12
0.19
27.0
13.9
24.5
24.0
mg/l
0.06
111
1008
118
1148
1.10
0.17
26.7
14.2
39.7
39.8
%
0.07
85
850
27
297
0.89
0.17
4.4
4.1
1.0
1.0
kg/l
—
6
39
126
1232
1.10
0.15
5.7
4.7
2.6
2.7
mmol/l
1.16
120
1118
39
364
1.09
0.15
5.0
3.9
—
—
—
0
0
12
105
1.15
0.11
1.8
1.4
—
—
—
0
0
122
1198
1.07
0.11
5.1
4.2
1.4
1.5
mmol/l
0.44
115
1090
5
43
1.17
0.10
1.0
1.1
—
—
—
0
0
5
45
1.11
0.10
1.0
1.2
—
—
—
0
0
5
47
1.07
0.09
3.2
1.6
—
—
—
0
0
6
54
1.12
0.09
1.0
1.1
—
—
—
0
0
6
58
1.04
0.08
6.3
1.5
—
—
—
0
0
14
154
0.90
0.08
1.4
1.8
—
—
—
0
0
5
60
0.83
0.08
9.4
3.7
—
—
—
0
0
9
85
1.06
0.07
2.8
3.2
—
—
—
0
0
31
299
1.05
0.04
3.6
4.9
1.8
2.4
ug/l
0.60
26
259
50
490
1.03
0.03
2.0
1.9
—
—
—
0
0
116
1150
1.03
0.03
4.7
3.8
1.4
1.2
mmol/l
2.25
110
1046
26
267
0.97
0.01
2.6
2.0
—
—
—
0
0
17
171
0.99
0.00
1.5
2.0
93.0
102.7
ug/g
0.09
12
134
119
1186
1.01
0.00
6.5
4.4
6.0
5.8
mmol/l
0.56
114
1068
12
123
0.97
0.00
1.4
1.8
—
—
—
0
0
14
138
1.02
0.00
1.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
17.1
—
0
5
0
5
0.00
0.00
0.0
4.2
—
—
—
0
0
7
75
0.93
0.00
1.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
110.8
—
0
6
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
0.00
0.0
1.9
—
—
—
0
0
0
6
0.00
0.00
0.0
2.0
—
20.8
—
0
6
6
63
0.95
0.00
6.3
1.5
—
—
—
0
0
6
63
0.95
0.00
6.3
1.4
—
—
—
0
0
6
63
0.95
0.00
6.3
1.4
—
—
—
0
0
5
58
0.86
0.00
2.6
2.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
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
8.1
—
5.8
—
0
7
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
6
63
0.95
0.00
6.3
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
6.1
—
0
6
0
9
0.00
0.00
0.0
2.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint E4_ADRENOGEN and mortality.

Females

Parameter HR [95% CI] p-value
E4_ADRENOGEN 2.292 [1.79, 2.93] < 0.001
Birth year 0.995 [0.99, 1.0] 0.259

During the follow-up period (1.1.1998 — 31.12.2019), 185 out of 572 females with E4_ADRENOGEN died.

Males

Parameter HR [95% CI] p-value
E4_ADRENOGEN 2.783 [1.92, 4.04] < 0.001
Birth year 0.984 [0.97, 0.99] < 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 182 out of 401 males with E4_ADRENOGEN died.

Mortality risk

Mortality risk for people of age

years, who have E4_ADRENOGEN.

N-year risk Females Males
1 0.204% 0.453%
5 1.287% 2.978%
10 3.461% 7.181%
15 6.431% 13.75%
20 11.168% 22.495%

Relationships between endpoints

Index endpoint: E4_ADRENOGEN – Adrenogenital disorders

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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