Other disorders of carbohydrate metabolism

E4_CARBO

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

None

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

0

4. Check minimum number of events

None

0

5. Include endpoints

185

6. Filter based on genotype QC (FinnGen only)

170

Control definitions (FinnGen only)

Control exclude
E4_METABOLIA

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2

Similar endpoints

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 1407 651 742
Only index persons 1083 514 569
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.02
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population 27.79 35.37 20.72
Only index persons 26.10 32.40 20.41

-FinnGen-

Key figures

All Female Male
Number of individuals 170 81 89
Unadjusted period prevalence (%) 0.04 0.03 0.04
Median age at first event (years) 25.04 29.18 21.27

-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
176
Matched controls
1760
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
27188
ICD-8 Finland
Congenital disorders of carbohydrate metabolism, Alii definiti
+∞
83.0
73
*
E74.0
ICD-10 Finland
Glycogen storage disease
+∞
18.0
17
*
27199
ICD-8 Finland
Congenital disorders of carbohydrate metabolism, Unspecified
+∞
13.7
13
*
E74.1
ICD-10 Finland
Disorders of fructose metabolism
+∞
11.6
11
*
E74.89
ICD-10 Finland
Other specified disorders of carbohydrate metabolism
+∞
9.5
9
*
2712A
ICD-9 Finland
Disorders of carbohydrate transport and metabolism, Hereditary fructose intolerance
+∞
8.4
8
*
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
4.2
8.4
24
64
503
Kela drug reimbursment
Inborn metabolic disorders
+∞
7.3
7
*
E74.4
ICD-10 Finland
Disorders of pyruvate metabolism and gluconeogenesis
+∞
7.3
7
*
1310
FHL
Esophagogastroscopy
+∞
7.3
7
*
2714A
ICD-9 Finland
Disorders of carbohydrate transport and metabolism, Renal glycosuria
+∞
7.3
7
*
Y0599
ICD-8 Finland
Investigation of digestive system
10.6
6.6
12
12
A02BC05
ATC
esomeprazole; systemic
2.3
6.6
76
437
K21.0
ICD-10 Finland
Gastro-oesophageal reflux disease with oesophagitis
3.3
6.1
25
85

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
13
6
23.23
9.50
4.3
4.5
1.82
1.32
umol/l
—
13
6
108
657
2.67
9.08
11.9
7.8
1.21
1.21
mmol/l
0.03
93
575
94
571
2.39
7.42
8.4
5.0
36.42
35.97
g/l
0.30
89
542
96
596
2.34
7.12
10.5
7.3
1.22
1.21
mmol/l
0.87
89
557
101
648
2.31
6.84
4.5
3.1
154.92
121.22
ug/l
0.39
95
608
64
341
2.38
6.67
2.3
2.3
3.03
3.01
mg/l
0.03
56
300
27
92
3.29
6.61
7.6
4.5
93.75
80.82
ng/l
0.32
27
77
10
7
15.04
6.48
1.8
4.1
34.20
26.57
umol/l
—
10
7
42
192
2.56
6.03
2.2
1.7
1300.10
1183.29
nmol/l
0.37
31
149
66
372
2.24
5.91
8.6
3.8
7.39
7.40
ph
0.61
55
270
75
458
2.11
5.39
4.3
2.9
2.35
2.36
mmol/l
0.07
70
425
41
197
2.41
5.25
2.4
3.0
55.19
78.36
ug/g
0.62
28
154
9
10
9.41
4.84
5.7
1.7
13.40
12.74
umol/l
—
9
10
98
685
1.97
4.65
11.0
7.4
0.69
0.68
%
0.05
91
644
105
755
1.97
4.55
10.5
7.2
1.83
1.97
e9/l
0.82
98
684
103
739
1.95
4.46
10.5
7.2
0.04
0.04
e9/l
0.50
95
646
97
686
1.92
4.34
11.0
7.3
3.22
2.99
%
0.47
91
650
131
1034
2.04
4.15
13.2
7.8
81.72
82.74
u/l
0.09
124
976
96
685
1.88
4.10
11.3
7.5
9.10
8.72
%
0.70
90
651
73
477
1.91
4.10
4.2
3.3
29.58
46.08
ng/l
0.77
55
322
84
575
1.88
4.08
12.0
11.5
1.22
1.21
inr
0.05
72
475
75
495
1.90
4.08
12.0
7.3
—
—
—
0
0
98
705
1.88
4.07
11.0
7.3
29.71
28.89
%
0.31
92
679
101
735
1.88
4.04
10.6
7.3
0.59
0.58
e9/l
0.12
94
645
104
765
1.88
4.01
10.5
7.6
0.21
0.20
e9/l
0.30
97
683
11
23
5.03
3.94
3.5
5.0
94.34
88.92
%
1.82
11
23
23
99
2.52
3.69
1.5
1.4
—
—
—
0
0
36
189
2.14
3.69
1.8
2.3
—
—
—
0
0
91
654
1.81
3.67
18.4
11.6
0.00
0.00
e9/l
0.53
78
531
108
830
1.78
3.36
14.6
10.5
3.50
3.95
e9/l
1.70
101
730
15
54
2.94
3.35
2.3
2.2
—
—
—
0
0
30
154
2.14
3.24
9.0
5.6
5.81
5.82
kpa
0.01
30
149
40
231
1.95
3.15
3.8
2.6
15.69
13.23
umol/l
1.09
35
218
61
407
1.76
3.04
3.1
2.4
56.57
79.11
u/l
0.82
54
378
9
21
4.46
3.04
5.8
3.6
—
—
—
0
0
35
197
1.97
2.96
1.3
1.4
880.00
582.35
titre
—
5
34
65
445
1.73
2.95
5.0
3.1
7.38
8.14
mmol/l
0.66
59
382
63
430
1.72
2.87
8.2
6.2
—
—
—
0
0
29
154
2.06
2.87
9.1
5.7
7.36
7.38
ph
0.65
22
85
5
7
7.31
2.56
1.2
1.0
—
—
—
0
0
6
11
5.60
2.56
1.7
1.2
86.83
120.91
pmol/l
—
6
11
31
177
1.91
2.51
6.3
7.0
104.48
104.44
mmol/l
0.02
31
177
75
552
1.63
2.51
2.6
1.9
97.91
98.78
pmol/l
0.06
49
293
22
111
2.12
2.49
5.8
6.1
0.13
0.11
%
—
8
35
93
724
1.60
2.45
12.7
6.6
12.87
11.88
umol/l
0.28
85
686
59
411
1.66
2.44
3.6
2.8
0.00
0.23
estimate
0.52
19
113
10
34
3.06
2.32
4.9
8.1
59.10
65.34
%
—
10
34
11
40
2.86
2.32
3.4
4.6
24.48
24.25
mmol/l
0.09
11
40
31
182
1.85
2.31
1.4
1.3
—
—
—
0
0
22
115
2.04
2.28
5.9
6.0
0.75
0.78
%
—
8
40
7
18
4.00
2.27
7.9
1.8
10.49
6.32
pmol/l
—
7
18
21
108
2.07
2.27
5.0
6.0
0.57
0.51
%
—
7
35
145
1279
1.76
2.15
4.8
4.0
1.32
1.30
mmol/l
0.10
135
1175
52
362
1.62
2.12
1.8
1.5
2.85
1.80
u/ml
0.26
15
89
23
126
1.95
2.10
3.6
3.4
9.46
10.39
g/l
0.58
23
118
7
20
3.60
2.07
4.6
2.7
16.21
16.25
%
—
7
20
6
15
4.10
2.05
4.5
3.6
—
—
—
0
0
6
15
4.10
2.05
3.7
12.7
11.08
12.33
%
—
6
15
6
15
4.10
2.05
1.2
1.3
—
—
—
0
0
56
400
1.59
2.05
4.6
3.2
56.30
37.99
mg/l
0.33
39
256
52
366
1.60
2.02
7.4
4.9
—
—
—
0
0
21
114
1.96
1.97
6.2
6.2
0.17
0.18
%
—
6
33
8
27
3.05
1.96
1.0
1.7
—
—
—
0
0
20
107
1.98
1.96
12.8
6.5
22.89
24.07
mmol/l
1.45
20
107
5
11
4.64
1.95
1.4
8.1
9.60
9.09
%
—
5
11
5
11
4.64
1.95
1.0
1.0
—
—
—
0
0
9
35
2.65
1.83
5.1
6.6
58.33
67.16
%
—
9
35
22
126
1.85
1.78
13.6
8.8
—
—
—
0
0
68
523
1.49
1.74
4.6
3.6
17.93
57.05
e6/l
1.23
57
362
7
24
2.99
1.74
1.0
3.3
—
—
—
0
0
5
13
3.92
1.72
1.0
1.2
226.80
196.92
mg/l
—
5
13
5
13
3.92
1.72
1.6
6.8
42.82
38.86
%
—
5
13
28
176
1.70
1.68
2.0
2.9
3.63
4.86
e9/l
1.56
23
158
25
154
1.73
1.61
1.7
1.3
—
—
—
0
0
25
154
1.73
1.61
1.9
1.8
—
—
—
0
0
54
402
1.50
1.61
5.7
3.7
13.50
6.55
mg/mmol
0.55
39
243
91
754
1.43
1.53
4.0
3.3
65.91
0.00
estimate
0.48
23
150
73
581
1.44
1.53
3.6
3.2
0.00
0.00
estimate
-0.00
20
128
26
166
1.66
1.48
1.7
1.6
—
—
—
0
0
18
103
1.83
1.47
14.2
4.1
59.82
67.63
e9/l
0.35
13
76
57
437
1.45
1.45
6.9
2.4
—
—
—
0
0
5
16
3.18
1.45
8.8
2.1
—
—
—
0
0
6
22
2.79
1.44
1.0
1.0
—
—
—
0
0
11
53
2.15
1.42
8.1
10.5
1.71
1.16
mg/l
1.27
11
46
6
23
2.66
1.38
1.5
1.7
—
—
—
0
0
6
23
2.66
1.38
1.5
1.7
—
—
—
0
0
6
23
2.66
1.38
7.0
4.7
2.81
4.07
e9/l
—
6
23
6
23
2.66
1.38
5.5
2.5
—
—
—
0
0
6
23
2.66
1.38
1.5
1.7
—
—
—
0
0
6
23
2.66
1.38
1.5
1.7
—
—
—
0
0
13
68
1.98
1.37
1.2
1.2
—
—
—
0
0
51
387
1.45
1.36
3.7
3.0
0.20
0.27
e6/l
0.35
45
287
9
42
2.20
1.36
1.0
1.1
—
—
—
0
0
89
747
1.39
1.34
4.0
3.3
0.00
0.00
estimate
-0.00
23
147
141
1282
1.50
1.34
5.5
4.8
1.75
1.90
mu/l
0.99
132
1189
144
1315
1.52
1.33
5.4
4.6
5.98
5.86
mmol/l
0.46
131
1214
147
1349
1.54
1.32
5.5
4.5
1.47
1.44
mmol/l
0.32
138
1252
90
759
1.38
1.30
4.1
3.3
0.00
2.03
estimate
0.50
19
148
8
35
2.35
1.28
1.0
3.0
53.60
204.92
mg/l
—
8
29
8
35
2.35
1.28
1.0
3.0
32.39
23.47
mg/l
—
8
29
44
329
1.45
1.26
6.1
5.9
—
—
—
0
0
147
1353
1.52
1.26
5.5
4.6
4.61
4.64
mmol/l
0.16
139
1270
16
93
1.79
1.26
1.5
1.7
—
—
—
0
0
121
1075
1.40
1.26
4.8
4.0
15.02
14.70
pmol/l
0.71
115
990
14
78
1.86
1.25
4.7
4.6
1.17
1.32
%
0.21
14
78
52
403
1.41
1.23
4.3
3.6
0.00
0.00
estimate
-0.00
22
140
17
102
1.74
1.21
1.9
1.9
1.17
1.42
g/l
0.36
17
96
14
79
1.84
1.21
1.6
2.4
—
—
—
0
0
45
342
1.42
1.18
1.4
1.5
1.94
2.50
g/l
1.35
28
197
52
408
1.39
1.14
2.6
2.4
—
0.29
—
0
7
8
40
2.05
1.13
1.3
1.2
—
—
—
0
0
57
455
1.37
1.13
4.1
3.1
40.73
173.84
e6/l
0.46
50
355
22
145
1.59
1.12
1.0
1.2
—
—
—
0
0
7
31
2.31
1.11
1.0
2.4
2.00
1.44
ratio
—
7
16
33
242
1.45
1.05
1.3
1.3
0.91
4.14
u/ml
—
10
91
147
1369
1.45
1.02
6.1
5.2
2.62
2.74
mmol/l
0.91
140
1274
23
158
1.52
1.00
1.5
1.4
—
—
—
0
0
25
175
1.50
1.00
4.2
4.4
9.95
7.31
umol/l
0.32
20
153
7
36
1.98
0.98
1.0
1.3
—
—
—
0
0
13
77
1.74
0.98
4.6
4.7
0.61
0.60
%
0.04
13
77
15
93
1.67
0.97
9.8
5.5
—
—
—
0
0
36
273
1.40
0.96
2.1
2.0
—
—
—
0
0
36
274
1.39
0.94
1.5
1.3
21.66
31.31
iu/ml
—
9
86
10
55
1.87
0.94
2.2
1.6
—
—
—
0
0
151
1419
1.45
0.93
25.3
14.2
25.69
23.50
mg/l
0.28
124
1137
16
103
1.61
0.91
4.7
4.1
—
—
—
0
0
8
42
1.95
0.90
8.1
3.7
52.06
55.27
%
—
8
42
60
502
1.30
0.84
2.1
2.1
—
—
—
0
0
28
208
1.41
0.84
1.1
1.7
—
—
—
0
0
30
227
1.39
0.82
2.6
3.3
8.86
505.79
ng/l
1.89
21
163
50
412
1.30
0.78
1.5
1.4
—
—
—
0
0
70
603
1.27
0.78
3.2
2.9
6.10
6.18
ph
0.28
45
347
17
116
1.52
0.77
16.9
10.1
24.47
25.25
mmol/l
0.57
17
116
5
26
1.95
0.71
3.8
3.0
—
—
—
0
0
5
26
1.95
0.71
1.6
1.2
—
—
—
0
0
9
58
1.58
0.71
1.0
1.4
—
—
—
0
0
12
77
1.60
0.70
2.3
3.8
187.83
132.31
ng/l
0.22
12
70
137
1287
1.29
0.68
7.9
5.5
39.70
38.70
mmol/mol
0.59
128
1213
23
172
1.39
0.68
1.2
1.3
—
—
—
0
0
45
374
1.27
0.66
3.7
2.7
—
—
—
0
0
154
1473
1.36
0.64
22.0
11.9
—
—
—
0
0
5
30
1.69
0.62
3.0
19.6
1.57
1.17
mmol/l
—
5
24
14
97
1.48
0.61
4.0
3.3
—
—
—
0
0
26
203
1.33
0.60
2.0
1.8
—
—
—
0
0
6
35
1.74
0.58
1.3
1.7
—
—
—
0
0
8
54
1.50
0.58
2.0
12.6
1.41
1.54
%
—
8
49
6
36
1.69
0.57
8.3
1.7
7.40
7.42
ph
—
6
36
8
55
1.48
0.57
1.3
1.8
0.22
0.22
g/l
—
8
55
38
316
1.26
0.56
3.5
1.9
1.33
0.94
mg/l
0.21
30
247
70
626
1.20
0.52
6.7
2.8
—
—
estimate
—
0
0
7
45
1.58
0.49
2.7
14.6
1.03
0.88
%
—
7
40
7
48
1.48
0.47
2.9
3.5
5.14
682.48
u/ml
—
7
40
10
69
1.48
0.45
3.0
12.9
22.53
24.85
mmol/l
—
10
64
8
56
1.45
0.43
1.4
1.4
—
—
—
0
0
16
123
1.33
0.42
2.6
1.9
0.00
0.00
estimate
—
6
31
8
58
1.40
0.42
1.1
1.2
—
—
—
0
0
17
132
1.32
0.42
6.1
11.1
0.68
1.35
mmol/l
0.54
12
109
0
16
0.00
0.41
0.0
1.3
—
—
—
0
0
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
0
17
0.00
0.41
0.0
1.2
—
—
—
0
0
17
134
1.30
0.38
6.0
11.0
7.41
7.41
ph
0.07
11
84
9
71
1.28
0.37
1.1
1.1
—
—
—
0
0
14
108
1.32
0.36
7.9
4.0
7.38
7.35
ph
—
8
78
5
79
0.62
0.36
1.2
1.1
—
—
—
0
0
6
45
1.34
0.34
1.8
1.6
—
4.45
—
0
8
12
93
1.31
0.31
1.9
1.2
—
—
—
0
0
64
592
1.13
0.29
3.3
2.8
—
—
—
0
0
9
77
1.18
0.24
2.1
9.1
—
—
—
0
0
62
580
1.11
0.22
2.5
1.8
1.75
1.34
mmol/l
0.46
51
486
0
11
0.00
0.21
0.0
21.4
—
801.27
—
0
11
0
10
0.00
0.21
0.0
1.0
—
0.14
—
0
5
16
136
1.19
0.21
6.0
10.8
13.23
12.23
kpa
0.30
16
131
16
136
1.19
0.21
6.0
10.8
5.00
5.30
kpa
0.64
16
130
6
52
1.16
0.19
2.2
1.6
—
—
—
0
0
20
176
1.15
0.18
1.4
1.6
—
—
—
0
0
24
215
1.13
0.17
3.1
2.9
1.58
1.81
e6/l
0.10
12
102
5
65
0.76
0.17
1.2
1.4
—
—
—
0
0
5
65
0.76
0.17
1.2
1.9
0.42
0.22
mg/l
—
5
29
8
71
1.13
0.16
2.1
3.8
4.26
4.70
pmol/l
—
8
63
8
72
1.12
0.16
10.4
9.6
24.66
24.88
mmol/l
—
8
72
11
129
0.84
0.15
4.2
2.2
5.80
6.19
ph
—
5
85
29
314
0.91
0.14
1.9
3.0
0.53
0.70
ug/l
1.24
17
188
10
114
0.87
0.10
4.1
2.4
0.67
0.19
e6/l
—
10
109
5
46
1.09
0.09
1.2
2.8
—
—
—
0
0
5
62
0.80
0.08
3.2
1.2
1.12
0.90
g/l
—
5
62
7
65
1.08
0.08
2.4
3.4
36.84
36.92
°c
—
7
65
6
71
0.84
0.08
1.2
1.3
—
—
—
0
0
6
70
0.85
0.08
1.2
1.4
—
—
—
0
0
51
492
1.05
0.07
3.7
4.7
1.58
2.47
ug/l
0.70
45
439
37
355
1.05
0.06
3.6
3.4
1.02
1.02
kg/l
0.46
28
219
13
139
0.93
0.03
1.7
1.7
—
—
—
0
0
10
93
1.08
0.02
1.1
1.3
—
39.50
—
0
6
10
99
1.01
0.00
1.2
1.3
91.62
139.98
u/ml
—
5
39
16
157
1.02
0.00
1.2
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.8
—
1.00
—
0
8
7
76
0.92
-0.00
12.0
9.2
95.84
93.49
%
—
7
76
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
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
1.1
—
27.86
—
0
7
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
6
69
0.87
-0.00
1.2
1.4
—
—
—
0
0
7
70
1.00
-0.00
1.1
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
174.17
—
0
6
0
6
0.00
-0.00
0.0
6.5
—
10.90
—
0
6
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint E4_CARBO and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_CARBO.

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_CARBO – Other disorders of carbohydrate metabolism

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 spinner Loading data