Kidney diseases associated to Fabry's disease

E4_FABRY_KIDNEY

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:

  • Hospital discharge: ICD-10 E75.2
  • Cause of death: ICD-10 E75.2

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

74

4. Check minimum number of events

None

74

5. Include endpoints

None

74

6. Filter based on genotype QC (FinnGen only)

62

Control definitions (FinnGen only)

Control exclude
E4_METABOLIA

Extra metadata

First used in FinnGen datafreeze
DF12

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

All Female Male
Number of individuals 62 48 14
Unadjusted period prevalence (%) 0.01 0.02 0.01
Median age at first event (years) 49.09 49.98 46.00

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-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
67
Matched controls
670
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E75.2
ICD-10 Finland
Other sphingolipidosis
+∞
86.3
63
*
N08.4*E75.2
ICD-10 Finland
Glomerular disorders in Fabry(-Anderson) disease
+∞
23.3
21
*
Z31.5
ICD-10 Finland
Genetic counselling
17.3
16.5
27
25
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
8.2
15.5
28
54
195
Kela drug reimbursment
Agalsidase alfa, agalsidase beta and migalastat
+∞
12.9
12
*
336
Kela drug reimbursment
Agalsidase alfa, agalsidase beta and migalastat
+∞
12.9
12
*
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
8.0
12.7
21
36
FM1DG
NOMESCO Finland
Very extensive MRI examination of heart with high intesity magnet
79.2
12.1
13
*
ZX120
NOMESCO Finland
Intravenous
7.0
10.3
19
36
A16AB04
ATC
agalsidase beta; parenteral
+∞
9.6
9
*
Z01.1
ICD-10 Finland
Examination of ears and hearing
5.5
8.8
21
51
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
4.7
8.1
25
75
Z01.8
ICD-10 Finland
Other specified special examinations
4.5
7.9
26
82
XF402
NOMESCO Finland
ECG with work load test
8.8
7.6
16
23
FM1CG
NOMESCO Finland
Extensive examination of hear with high intensity magnet
+∞
7.4
7
*
151
Kela drug reimbursment
Eliglustat, imiglucerase and velaglucerase alfa
+∞
7.4
7
*
I42.2
ICD-10 Finland
Other hypertrophic cardiomyopathy
+∞
7.4
7
*
6AB04, ,
NOMESCO Finland
+∞
7.4
7
*
333
Kela drug reimbursment
Eliglustat, imiglucerase and velaglucerase alfa
+∞
7.4
7
*
XF404
NOMESCO Finland
Ambulatory ECG
8.0
7.2
16
25
TPH04
NOMESCO Finland
Cathetrisation of vein
4.4
6.9
22
67
E75.3
ICD-10 Finland
Sphingolipidosis, unspecified
+∞
6.3
6
*
FP4B5
NOMESCO Finland
ECG, prolonged recording (24 h)
+∞
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
52
207
7.75
13.20
8.7
4.8
37.60
36.30
g/l
1.02
52
197
42
153
5.68
11.30
5.9
3.2
62.51
30.60
mg/l
0.54
34
96
42
155
5.58
11.07
6.3
3.8
9.59
5.34
mg/mmol
0.31
33
94
43
179
4.91
9.34
5.9
2.9
7.24
7.40
mmol/l
0.09
38
152
41
180
4.29
7.94
4.7
3.1
27.16
24.18
ng/l
0.15
31
111
40
173
4.26
7.90
7.6
5.6
—
—
—
0
0
31
151
2.96
4.47
13.2
3.8
7.39
7.39
ph
0.03
26
114
37
203
2.84
4.22
5.2
3.5
11.02
63.67
e6/l
1.65
31
149
11
23
5.50
4.08
7.0
1.5
—
—
—
0
0
6
5
12.98
3.84
9.8
1.0
—
—
—
0
0
11
28
4.49
3.48
6.4
5.0
23.55
24.43
mmol/l
0.42
11
28
40
245
2.57
3.46
15.5
8.2
1.22
1.22
mmol/l
0.00
35
216
7
11
6.95
3.27
3.7
2.5
3.26
4.54
e9/l
—
7
11
13
46
3.27
3.12
5.7
4.5
7.38
7.39
ph
—
8
26
6
8
8.09
3.12
2.0
1.5
—
—
—
0
0
7
15
5.07
2.67
3.7
3.2
55.29
60.26
%
—
7
15
17
78
2.58
2.58
6.6
4.3
0.83
0.81
mmol/l
0.33
17
72
11
38
3.26
2.56
6.2
10.1
—
—
—
0
0
15
66
2.64
2.46
1.5
1.4
—
—
—
0
0
10
36
3.08
2.25
1.0
1.4
—
—
—
0
0
42
303
2.03
2.03
4.7
5.6
6.02
6.32
mmol/l
0.65
42
283
8
27
3.22
2.01
2.6
2.1
—
—
—
0
0
20
118
1.99
1.65
6.0
4.3
—
—
—
0
0
7
26
2.88
1.63
5.9
2.2
7.40
7.43
ph
—
7
21
7
27
2.77
1.56
1.1
1.1
—
—
—
0
0
11
52
2.33
1.54
1.0
1.3
—
—
—
0
0
9
39
2.51
1.50
3.2
2.6
—
—
—
0
0
7
28
2.67
1.49
5.9
2.1
4.83
5.12
kpa
—
7
28
5
16
3.29
1.46
4.6
2.3
—
—
—
0
0
11
54
2.24
1.42
1.5
1.4
—
—
—
0
0
30
211
1.76
1.42
19.1
11.2
1.26
1.17
inr
0.36
24
170
10
48
2.27
1.35
2.7
2.2
295.00
380.79
nmol/l
—
10
43
26
179
1.74
1.30
10.8
5.1
—
—
—
0
0
11
59
2.03
1.15
1.6
1.8
—
—
—
0
0
10
52
2.09
1.13
4.9
3.4
—
—
—
0
0
9
49
1.96
1.04
3.9
7.6
106.33
104.47
mmol/l
—
9
49
11
62
1.93
1.01
1.8
3.4
—
—
—
0
0
22
157
1.60
0.93
1.4
1.2
2.18
2.25
g/l
—
9
86
33
260
1.53
0.90
3.7
3.1
6.09
6.23
ph
0.44
22
159
0
25
0.00
0.81
0.0
23.1
—
—
—
0
0
19
140
1.50
0.68
4.1
3.2
—
—
—
0
0
0
19
0.00
0.61
0.0
1.5
—
—
—
0
0
0
19
0.00
0.61
0.0
1.3
—
—
—
0
0
44
389
1.38
0.55
4.4
4.1
—
1405.67
—
0
6
30
251
1.35
0.53
2.4
1.8
100.86
99.83
pmol/l
0.05
17
125
13
172
0.70
0.49
1.5
1.6
—
—
—
0
0
37
323
1.32
0.48
4.1
3.3
0.00
0.00
estimate
—
8
69
37
324
1.32
0.46
4.1
3.3
0.00
0.00
estimate
—
8
69
0
15
0.00
0.42
0.0
3.6
—
1.09
—
0
15
0
16
0.00
0.41
0.0
1.4
—
—
—
0
0
37
328
1.29
0.40
4.1
3.3
0.00
0.00
estimate
—
7
66
20
163
1.32
0.40
1.9
2.5
—
—
—
0
0
0
18
0.00
0.40
0.0
5.0
—
37.05
—
0
18
0
18
0.00
0.40
0.0
1.9
—
—
—
0
0
5
35
1.46
0.40
43.4
4.3
1.19
1.22
mmol/l
—
5
30
21
175
1.29
0.36
4.8
2.6
—
—
—
0
0
19
157
1.29
0.34
2.1
1.5
20.69
21.69
nmol/l
0.08
14
129
11
87
1.32
0.26
1.9
1.6
—
—
—
0
0
11
87
1.32
0.26
1.6
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
8.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
0.08
—
0
5
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
3.2
—
22.85
—
0
13
0
14
0.00
0.20
0.0
3.9
—
3.73
—
0
14
7
62
1.14
0.18
1.1
1.4
—
—
—
0
0
60
583
1.28
0.15
23.3
12.6
22.54
20.72
mg/l
0.16
48
453
21
191
1.14
0.14
2.5
2.7
—
—
—
0
0
14
125
1.15
0.11
2.3
1.8
—
—
—
0
0
5
45
1.12
0.10
2.0
2.5
—
—
—
0
0
6
55
1.10
0.09
1.5
2.1
—
—
—
0
0
7
66
1.07
0.08
1.0
1.1
—
—
—
0
0
16
147
1.12
0.08
7.1
4.2
—
—
—
0
0
61
599
1.20
0.08
19.8
11.0
—
—
—
0
0
7
68
1.03
0.08
1.1
1.2
—
—
—
0
0
27
256
1.09
0.08
2.1
3.2
—
—
estimate
—
0
0
18
192
0.91
0.06
3.9
2.9
0.00
0.00
estimate
—
8
53
15
160
0.92
0.04
2.4
2.4
—
—
—
0
0
17
180
0.93
0.04
4.4
3.3
0.00
0.00
estimate
—
7
66
21
218
0.95
0.02
5.1
2.8
—
—
—
0
0
25
258
0.95
0.02
4.3
3.1
0.00
0.02
estimate
—
7
55
24
241
0.99
0.00
1.6
1.9
—
—
—
0
0
11
111
0.99
0.00
1.4
1.9
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.9
—
5.74
—
0
8
0
5
0.00
-0.00
0.0
1.2
—
80.20
—
0
5
0
9
0.00
-0.00
0.0
1.1
—
18.22
—
0
9
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
10.44
—
0
9
0
5
0.00
-0.00
0.0
1.0
—
202.36
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
35823.60
—
0
5
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
8
84
0.95
-0.00
4.5
5.8
1.42
2.23
ug/l
—
8
73
0
5
0.00
-0.00
0.0
2.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
1.51
—
0
7
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
57.20
—
0
5
0
6
0.00
-0.00
0.0
2.7
—
—
—
0
0
6
66
0.90
-0.00
1.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0

Mortality – FinRegistry

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

Index endpoint: E4_FABRY_KIDNEY – Kidney diseases associated to Fabry's disease

GWS hits: 2

This endpoint is excluded (different definition than used in FinnGen).