Autoimmune polyglandular failure

E4_AUTOPOLYFAI

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:

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

58

4. Check minimum number of events

None

58

5. Include endpoints

None

58

6. Filter based on genotype QC (FinnGen only)

51

Control definitions (FinnGen only)

Control exclude
E4_ENDOGLAND

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 302 189 110
Only index persons 247 161 86
Unadjusted period prevalence (%)
Whole population 0.00 0.01 0.00
Only index persons 0.01 0.01 0.00
Median age at first event (years)
Whole population 33.80 36.67 28.51
Only index persons 31.59 35.00 25.22

-FinnGen-

Key figures

All Female Male
Number of individuals 51 30 21
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 26.66 34.27 15.79

-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
52
Matched controls
520
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
H02AB09
ATC
hydrocortisone; systemic
311.9
37.4
34
*
H02AA02
ATC
fludrocortisone; oral
+∞
36.9
31
*
105
Kela drug reimbursment
Adrenal cortical hypofunction
+∞
35.5
30
*
E27.1
ICD-10 Finland
Primary adrenocortical insufficiency
+∞
30.1
26
*
E31.00
ICD-10 Finland
APECED syndrome
+∞
30.1
26
*
H03AA01
ATC
levothyroxine sodium; systemic
13.0
20.0
34
66
E31.08
ICD-10 Finland
Autoimmune polyglandular failure
+∞
18.9
17
*
106
Kela drug reimbursment
Hypoparathyroidism
+∞
17.7
16
*
A12AA04
ATC
calcium carbonate; oral
245.7
17.7
17
*
A11CC03
ATC
alfacalcidol; systemic
89.2
17.0
18
*
E10.9
ICD-10 Finland
Type 1 diabetes mellitus, Without complications
20.1
15.4
24
21
A10AE05
ATC
insulin detemir; parenteral
24.1
14.7
21
14
A11CC02
ATC
dihydrotachysterol; oral
+∞
14.2
13
*
T89
ICPC
Diabetes insulin dependent
19.1
14.1
22
19
E10.1
ICD-10 Finland
Type 1 diabetes mellitus, With ketoacidosis
169.2
13.1
13
*
E83.51
ICD-10 Finland
Hypocalcemia
+∞
13.0
12
*
A10AB04
ATC
insulin lispro; parenteral
20.5
12.7
19
14
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
7.4
12.0
29
76
H36.09*E10.3
ICD-10 Finland
Insulin-dependent diabetes mellitus - Diabetic retinopathy
152.4
12.0
12
*
A10AC01
ATC
insulin (human); parenteral
13.9
11.8
21
24
215
Kela drug reimbursment
Diabetes, non-insulin-treated
7.3
11.7
27
67
103
Kela drug reimbursment
Diabetes, insulin-treated
7.2
11.5
27
68
E03.80
ICD-10 Finland
Hypothyroidism caused by autoimmune thyroiditis
56.3
11.5
13
*
A10AE04
ATC
insulin glargine; parenteral
12.3
11.5
22
29
A10AB05
ATC
insulin aspart; parenteral
12.7
11.3
21
26
A09
ICD-10 Finland
Other gastroenteritis and colitis of infectious and unspecified origin
7.0
10.9
25
61
121
Kela drug reimbursment
Severe hypofunction of sexual glands
42.2
10.9
13
*
107
Kela drug reimbursment
Pernicious anaemia
+∞
10.8
10
*
2581B
ICD-9 Finland
Polyglandular dysfunction and related disorders, Other combinations of endocrine dysfunction[AUTOIMMUNE-POLYENDOCRINOPATHY-CANDIDOSIS-ECTOD DYST]
+∞
10.8
10
*
A07AA02
ATC
nystatin; oral
18.6
10.5
16
12
E10.3
ICD-10 Finland
Type 1 diabetes mellitus, With ophthalmic complications
15.9
9.9
16
14
SPAT1262
SPAT
Handing over of treatment supplies
7.1
9.7
19
39
E31.0
ICD-10 Finland
Autoimmune polyglandular failure
+∞
9.7
9
*
2581A
ICD-9 Finland
Polyglandular dysfunction and related disorders, Other combinations of endocrine dysfunction[SYNDROMA SCHMIDT]
+∞
9.7
9
*
25510
ICD-8 Finland
Diseases of adrenal glands, Adrenal cortical hypofunction
+∞
9.7
9
*
E10.7
ICD-10 Finland
Type 1 diabetes mellitus, With multiple complications
24.1
9.5
13
7
B03BA03
ATC
hydroxocobalamin; parenteral
30.4
9.4
12
5
A10AB01
ATC
insulin (human); parenteral
13.0
9.1
16
17
A01AB09
ATC
miconazole; local oral
13.0
9.1
16
17
WZC00
NOMESCO Finland
Treatment plan or consultation
6.0
9.1
35
133
H04AA01
ATC
glucagon; nasal, parenteral
14.5
9.0
15
14
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
5.6
8.8
29
96
104
Kela drug reimbursment
Thyroid insufficiency
13.5
8.7
15
15
B37.08
ICD-10 Finland
Other candidal stomatitis
106.7
8.7
9
*
E31.01
ICD-10 Finland
Schmidt's syndrome
+∞
8.6
8
*
A12AA06
ATC
calcium lactate gluconate; oral
+∞
8.6
8
*
E27.2
ICD-10 Finland
Addisonian crisis
+∞
8.6
8
*
A01AB04
ATC
amphotericin B; local oral
21.7
8.5
12
7
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
12.6
8.5
15
16
TPH04
NOMESCO Finland
Cathetrisation of vein
5.9
8.1
19
46
E10.00
ICD-10 Finland
Insulin-dependent diabetes diabetic hypoglycemic coma
53.3
8.0
9
*
E16.2
ICD-10 Finland
Hypoglycaemia, unspecified
53.3
8.0
9
*
E83.50
ICD-10 Finland
Hypercalcemia
53.3
8.0
9
*
SBA00
NOMESCO Finland
Microbiological examinations
30.2
7.9
10
*
Z01.0
ICD-10 Finland
Examination of eyes and vision
5.5
7.9
21
57
SBB00
NOMESCO Finland
Clinical photography of mouth and teeth
16.8
7.8
12
9
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
16.8
7.8
12
9
WX002
NOMESCO Finland
Sedation and analgesia
9.5
7.8
16
23
E87.6
ICD-10 Finland
Hypokalaemia
19.4
7.6
11
7
Z71.3
ICD-10 Finland
Dietary counselling and surveillance
12.9
7.6
13
13
J02AB02
ATC
ketoconazole; oral
24.2
7.5
10
5
XCK10
NOMESCO Finland
Photography of fundus of eye
9.1
7.2
15
22
ZY020
NOMESCO Finland
Telephone, letter or other consultation without direct patient contact
11.1
7.1
13
15
K29.4
ICD-10 Finland
Chronic atrophic gastritis
46.2
7.0
8
*
H3600, E103,
ICD-10 Finland
26.6
6.9
9
*
WZB00
NOMESCO Finland
Telephone prescription or other care instructions
4.6
6.9
31
126
WZC10
NOMESCO Finland
Written specialist consultation based on a referral from a dentist or a physician
13.5
6.7
11
10
E03.89
ICD-10 Finland
Other specified hypothyroidism
21.3
6.5
9
5
25810
ICD-8 Finland
Polyglandular dysfunction and other diseases of endocrine glands, Polyglandular dysfunction
+∞
6.4
6
*
25219
ICD-8 Finland
Diseases of parathyroid gland, Hypoparathyreoidismus alius sive NUD
+∞
6.4
6
*
101
Kela drug reimbursment
Anterior pituitary hypofunction
+∞
6.4
6
*
E20.8
ICD-10 Finland
Other hypoparathyroidism
+∞
6.4
6
*
H01AC01
ATC
somatropin; parenteral
+∞
6.4
6
*
A10AE06
ATC
insulin degludec; parenteral
11.3
6.1
11
12
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
8.3
6.0
13
20

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
32
50
15.04
22.73
18.0
7.5
1.24
1.13
mmol/l
0.88
32
42
34
74
11.38
17.87
13.0
4.4
0.77
0.83
mmol/l
2.92
34
69
37
117
8.50
12.79
35.0
3.5
7.40
7.40
ph
0.09
32
74
22
46
7.56
11.23
10.7
12.5
103.50
104.67
mmol/l
0.45
22
46
21
30
10.97
10.43
9.6
14.1
26.14
24.48
mmol/l
0.53
21
30
32
104
6.40
10.20
8.0
4.2
—
—
—
0
0
13
6
28.12
9.93
8.9
1.3
—
—
—
0
0
41
179
7.10
9.05
42.6
9.5
1.15
1.21
mmol/l
2.89
41
166
20
33
9.16
9.05
5.9
9.7
7.38
7.38
ph
0.08
15
21
19
29
9.67
8.98
8.2
10.1
5.92
5.71
kpa
0.33
19
29
19
32
8.72
8.44
9.1
13.3
—
—
—
0
0
13
11
15.25
8.11
13.2
1.4
7.39
7.43
ph
1.33
13
11
38
167
5.74
7.98
5.0
1.8
102.43
96.55
pmol/l
0.34
27
80
16
23
9.53
7.75
5.1
9.4
25.62
24.63
mmol/l
0.44
16
23
20
55
5.28
7.33
1.5
1.3
—
—
—
0
0
33
138
4.81
7.14
8.2
3.5
2.26
2.35
mmol/l
1.71
33
126
11
9
15.06
6.95
10.5
1.4
9.27
9.62
kpa
—
11
9
11
9
15.06
6.95
10.5
1.4
5.04
4.87
kpa
—
11
9
32
136
4.52
6.66
2.3
1.5
0.65
1.12
u/ml
0.56
11
34
6
0
+∞
6.37
3.5
0.0
3251.67
—
ml
—
6
0
9
6
17.72
6.15
2.8
2.5
10.22
8.33
%
—
9
6
9
6
17.72
6.15
2.8
2.5
85.33
80.00
%
—
9
6
43
249
5.19
6.05
15.0
7.7
8.85
6.47
mmol/l
3.99
43
234
30
129
4.13
5.98
2.0
1.4
2.73
2.35
g/l
0.43
19
77
9
7
15.16
5.82
4.2
1.7
16.40
16.61
%
—
9
7
9
7
15.16
5.82
3.0
1.6
1.97
1.16
mmol/l
—
9
7
17
49
4.67
5.76
2.4
1.9
—
—
—
0
0
8
5
18.50
5.60
1.3
2.6
26.25
27.80
%
—
8
5
15
40
4.86
5.56
10.7
22.9
96.06
95.69
%
0.10
15
40
15
42
4.61
5.22
3.9
1.7
—
—
—
0
0
15
35
5.59
5.16
6.4
2.5
0.14
0.11
%
—
7
9
14
31
5.78
5.03
13.1
3.1
5.29
5.12
kpa
0.31
14
31
28
127
3.61
4.94
6.8
2.6
33.58
536.84
e6/l
0.47
28
94
15
38
5.12
4.81
6.5
2.4
1.43
0.75
%
—
7
12
15
38
5.12
4.81
1.4
1.3
406.60
62.87
u/ml
—
5
19
7
5
15.84
4.72
2.6
1.4
92.39
91.04
%
—
7
5
14
35
5.08
4.54
6.8
2.7
0.00
0.00
%
—
5
8
14
35
5.08
4.54
7.0
2.4
0.83
1.40
%
—
6
10
30
149
3.40
4.48
10.5
7.1
—
—
—
0
0
8
9
10.23
4.45
2.8
2.3
54.05
40.81
%
—
8
9
8
9
10.23
4.45
8.4
8.6
24.05
23.26
mmol/l
—
8
9
14
42
4.19
4.41
11.9
22.1
7.42
7.43
ph
—
8
27
9
13
8.10
4.37
3.0
1.5
23.68
25.88
mmol/l
—
9
13
7
7
11.29
4.14
11.3
1.1
59.14
58.93
%
—
7
7
11
25
5.29
3.89
10.5
15.0
94.64
92.58
%
0.44
11
25
6
5
13.30
3.86
10.2
1.0
4.23
5.72
e9/l
—
6
5
18
71
3.35
3.80
1.9
1.5
456.00
326.15
titre
—
5
13
29
158
2.89
3.44
5.0
3.2
19.67
20.27
ng/l
0.04
21
84
23
113
2.86
3.27
3.0
1.7
0.67
1.56
mg/l
0.76
18
89
12
37
3.90
3.20
13.3
24.6
117.58
125.95
g/l
0.98
12
37
10
26
4.50
3.18
11.5
14.4
0.53
0.72
%
—
10
26
6
8
8.28
3.14
1.0
1.0
—
—
—
0
0
22
108
2.80
3.11
7.4
2.5
—
—
estimate
—
0
0
10
27
4.33
3.07
11.5
14.0
1.50
1.66
%
—
10
27
26
140
2.71
3.07
6.9
3.5
0.00
0.00
estimate
-0.00
16
50
8
17
5.35
3.05
5.8
10.9
0.77
0.67
%
—
8
17
8
17
5.35
3.05
7.3
10.9
1.75
1.43
%
—
8
17
7
13
6.03
2.98
2.0
1.2
1.31
0.24
ug/l
—
7
13
5
6
9.04
2.81
1.6
3.2
11.86
6.75
mmol/l
—
5
6
22
113
2.64
2.80
4.4
2.9
—
—
—
0
0
9
25
4.13
2.72
12.1
3.1
7.37
7.36
ph
—
9
17
7
15
5.21
2.70
16.3
3.0
11.59
8.71
kpa
—
7
15
14
58
2.93
2.64
3.7
2.9
—
—
—
0
0
5
7
7.74
2.60
1.0
1.0
—
—
—
0
0
8
21
4.30
2.58
14.1
26.3
—
—
—
0
0
6
12
5.49
2.47
11.8
1.8
1.39
1.84
mmol/l
—
6
12
6
12
5.49
2.47
2.3
2.4
191.67
143.58
ng/l
—
6
12
11
41
3.13
2.39
10.1
3.3
—
—
—
0
0
6
13
5.06
2.34
1.7
4.0
—
—
—
0
0
41
302
2.69
2.25
8.1
4.4
—
—
—
0
0
7
19
4.09
2.24
20.7
3.9
25.49
25.56
mmol/l
—
7
19
8
25
3.59
2.20
18.4
23.4
24.38
24.84
mmol/l
—
8
25
23
133
2.31
2.18
3.4
6.4
—
—
—
0
0
22
125
2.32
2.17
11.5
3.6
—
—
—
0
0
12
54
2.59
1.91
1.5
1.3
—
—
—
0
0
7
23
3.35
1.87
21.0
3.4
—
—
—
0
0
5
12
4.48
1.87
14.0
1.8
4.22
3.85
mmol/l
—
5
12
22
134
2.11
1.77
3.6
2.3
—
—
—
0
0
21
126
2.12
1.76
5.0
2.8
—
—
—
0
0
7
26
2.95
1.64
1.7
1.1
—
—
—
0
0
11
51
2.47
1.64
1.7
1.3
—
—
—
0
0
5
15
3.57
1.56
2.0
1.1
—
—
—
0
0
6
21
3.09
1.55
14.8
36.9
15.17
17.19
%
—
6
21
27
190
1.88
1.37
3.3
3.3
—
—
estimate
—
0
0
33
251
1.86
1.28
7.5
3.5
0.00
0.00
estimate
-0.00
15
49
33
252
1.85
1.26
7.7
3.6
0.00
0.00
estimate
-0.00
16
50
33
253
1.83
1.23
7.6
3.6
0.00
0.06
estimate
0.49
14
47
28
206
1.78
1.18
5.8
3.2
6.56
6.23
ph
0.78
18
122
26
196
1.65
0.95
7.3
3.3
0.00
0.05
estimate
0.49
14
40
6
30
2.13
0.90
1.8
1.2
—
—
—
0
0
5
23
2.29
0.78
1.4
1.3
—
—
—
0
0
9
58
1.67
0.75
2.6
2.9
6.44
4.82
umol/l
—
9
52
9
138
0.58
0.74
1.8
2.3
—
—
—
0
0
5
26
2.02
0.73
1.4
1.1
—
—
—
0
0
14
97
1.61
0.68
1.3
1.4
7.99
2.64
u/ml
—
7
46
0
20
0.00
0.62
0.0
1.4
—
—
—
0
0
0
19
0.00
0.61
0.0
1.1
—
—
—
0
0
0
19
0.00
0.61
0.0
1.1
—
—
—
0
0
0
22
0.00
0.61
0.0
1.5
—
—
—
0
0
19
152
1.39
0.46
7.7
2.9
0.00
0.00
estimate
-0.00
14
38
14
107
1.42
0.43
1.6
1.7
—
—
—
0
0
0
15
0.00
0.42
0.0
1.0
—
0.14
—
0
9
0
15
0.00
0.42
0.0
1.4
—
—
—
0
0
5
76
0.62
0.39
1.6
2.1
—
—
—
0
0
12
91
1.41
0.38
5.6
4.9
0.97
1.88
ug/l
1.47
12
82
13
104
1.33
0.30
1.6
1.4
28.12
29.00
iu/ml
—
5
24
18
210
0.78
0.29
5.8
2.8
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
6
52
1.17
0.20
2.0
1.2
—
—
—
0
0
20
179
1.19
0.18
2.2
1.8
—
—
—
0
0
6
56
1.08
0.09
1.0
1.2
—
—
—
0
0
12
126
0.94
0.01
1.5
1.7
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
269.83
—
0
6
0
5
0.00
-0.00
0.0
1.0
—
102.58
—
0
5
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
4.4
—
0.65
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
349.60
—
0
5
8
84
0.94
-0.00
1.6
1.5
—
—
—
0
0
0
9
0.00
-0.00
0.0
11.3
—
801.44
—
0
9
0
5
0.00
-0.00
0.0
2.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
14.1
—
1311.67
—
0
9

Mortality – FinRegistry

Association

Association between endpoint E4_AUTOPOLYFAI and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_AUTOPOLYFAI.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

Index endpoint: E4_AUTOPOLYFAI – Autoimmune polyglandular failure

GWS hits: 3

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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