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

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

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

66

4. Check minimum number of events

None

66

5. Include endpoints

None

66

6. Filter based on genotype QC (FinnGen only)

61

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 61 47 14
Unadjusted period prevalence (%) 0.01 0.02 0.01
Median age at first event (years) 49.86 51.01 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
66
Matched controls
660
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E75.2
ICD-10 Finland
Other sphingolipidosis
+∞
84.9
62
*
N08.4*E75.2
ICD-10 Finland
Glomerular disorders in Fabry(-Anderson) disease
+∞
23.3
21
*
Z31.5
ICD-10 Finland
Genetic counselling
19.6
16.8
26
21
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
8.6
15.8
27
49
195
Kela drug reimbursment
Agalsidase alfa, agalsidase beta and migalastat
+∞
12.9
12
*
FM1DG
NOMESCO Finland
Very extensive MRI examination of heart with high intesity magnet
79.5
12.1
13
*
336
Kela drug reimbursment
Agalsidase alfa, agalsidase beta and migalastat
+∞
11.8
11
*
Z01.1
ICD-10 Finland
Examination of ears and hearing
6.4
10.1
21
45
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
9.4
9.5
20
29
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
5.0
8.6
25
72
XF402
NOMESCO Finland
ECG with work load test
10.2
8.2
16
20
151
Kela drug reimbursment
Eliglustat, imiglucerase and velaglucerase alfa
+∞
7.4
7
*
6AB04, ,
NOMESCO Finland
+∞
7.4
7
*
FM1CG
NOMESCO Finland
Extensive examination of hear with high intensity magnet
+∞
7.4
7
*
A16AB04
ATC
agalsidase beta; parenteral
+∞
7.4
7
*
333
Kela drug reimbursment
Eliglustat, imiglucerase and velaglucerase alfa
+∞
7.4
7
*
XF404
NOMESCO Finland
Ambulatory ECG
8.4
7.4
16
24
TPH04
NOMESCO Finland
Cathetrisation of vein
4.7
7.3
22
64
Z01.8
ICD-10 Finland
Other specified special examinations
4.4
7.2
24
76
ZX120
NOMESCO Finland
Intravenous
6.9
7.1
18
34
FP4B5
NOMESCO Finland
ECG, prolonged recording (24 h)
+∞
6.3
6
*
I42.2
ICD-10 Finland
Other hypertrophic cardiomyopathy
+∞
6.3
6
*
E75.3
ICD-10 Finland
Sphingolipidosis, unspecified
+∞
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
28
9
52.45
23.98
4.7
2.8
1.36
1.05
mg/l
—
28
9
41
115
7.77
15.88
5.0
3.1
1476.02
30.36
mg/l
0.50
34
79
50
177
8.53
15.04
6.6
4.3
37.56
36.18
g/l
1.07
50
167
40
124
6.65
13.50
5.5
3.7
9.89
5.63
mg/mmol
0.29
32
79
40
138
5.82
11.58
5.1
2.8
7.86
7.54
mmol/l
0.16
35
119
38
156
4.38
8.17
4.0
3.0
30.77
25.80
ng/l
0.22
26
94
30
131
3.37
5.41
3.6
2.7
—
—
—
0
0
35
170
3.25
5.27
4.5
3.3
11.61
89.02
e6/l
1.62
29
123
10
16
7.15
4.49
4.9
2.8
22.95
25.36
mmol/l
—
10
16
42
242
3.02
4.48
8.4
5.4
—
—
—
0
0
10
19
6.00
4.01
6.4
1.5
—
—
—
0
0
6
5
13.00
3.84
8.0
1.0
—
—
—
0
0
36
207
2.63
3.61
14.1
7.4
1.22
1.22
mmol/l
0.14
30
180
52
360
3.10
3.60
5.0
3.9
—
—
—
0
0
7
10
7.67
3.45
3.7
2.3
3.26
4.59
e9/l
—
7
10
7
10
7.67
3.45
3.7
4.0
55.29
57.80
%
—
7
10
10
32
3.50
2.56
5.2
7.8
—
—
—
0
0
15
66
2.65
2.46
7.0
4.2
0.83
0.82
mmol/l
0.09
15
60
5
8
6.65
2.41
1.8
1.5
—
—
—
0
0
13
54
2.75
2.37
1.5
1.4
—
—
—
0
0
7
21
3.60
2.03
5.7
1.8
4.83
5.15
kpa
—
7
21
23
134
2.10
2.01
11.3
5.8
—
—
—
0
0
28
176
2.03
2.00
19.4
12.1
1.42
1.20
inr
—
5
57
5
12
4.41
1.86
4.4
1.5
—
—
—
0
0
18
98
2.15
1.85
6.2
4.2
—
—
—
0
0
7
25
3.01
1.70
1.1
1.1
—
—
—
0
0
7
27
2.78
1.56
2.6
2.1
—
—
—
0
0
9
38
2.58
1.53
3.2
2.8
—
—
—
0
0
10
46
2.38
1.48
4.5
3.5
—
—
—
0
0
27
184
1.79
1.43
1.9
1.8
97.19
100.40
pmol/l
0.14
15
94
43
339
1.77
1.35
5.3
3.3
—
—
—
0
0
10
49
2.23
1.30
1.4
1.4
—
—
—
0
0
35
266
1.67
1.21
3.7
3.2
0.00
0.00
estimate
—
7
52
8
39
2.19
1.20
2.6
7.0
105.88
103.79
mmol/l
—
8
39
35
267
1.66
1.19
5.4
4.4
0.00
0.00
estimate
—
7
47
8
40
2.14
1.16
2.9
2.3
268.00
374.63
nmol/l
—
8
35
35
271
1.62
1.09
3.7
3.1
0.00
0.00
estimate
—
6
45
18
117
1.74
1.08
3.3
3.0
—
—
—
0
0
10
53
2.05
1.08
1.6
1.9
—
—
—
0
0
7
35
2.12
1.03
6.0
3.5
—
—
—
0
0
0
31
0.00
0.99
0.0
1.5
—
213.42
—
0
17
8
47
1.80
0.84
1.0
1.3
—
—
—
0
0
19
134
1.59
0.84
1.9
2.1
—
—
—
0
0
0
25
0.00
0.81
0.0
23.1
—
—
—
0
0
17
123
1.51
0.66
5.1
2.7
—
—
—
0
0
0
19
0.00
0.61
0.0
1.3
—
—
—
0
0
6
36
1.73
0.58
1.0
1.3
—
—
—
0
0
9
63
1.50
0.55
1.8
1.7
—
—
—
0
0
59
555
1.59
0.54
19.7
10.7
22.19
20.11
mg/l
0.17
43
399
40
353
1.34
0.48
4.4
3.9
—
1405.83
—
0
6
8
55
1.52
0.45
2.1
3.5
—
—
—
0
0
17
133
1.37
0.44
1.4
1.2
2.39
2.32
g/l
—
7
71
0
15
0.00
0.42
0.0
1.1
—
1.22
—
0
7
0
15
0.00
0.42
0.0
1.1
—
4.11
—
0
7
0
15
0.00
0.42
0.0
1.2
—
—
—
0
0
0
15
0.00
0.42
0.0
3.6
—
1.09
—
0
15
0
15
0.00
0.42
0.0
4.9
—
—
—
0
0
51
474
1.33
0.37
7.4
4.7
37.81
38.46
mmol/mol
0.26
51
442
6
44
1.40
0.35
2.2
1.3
—
—
—
0
0
12
150
0.76
0.31
2.3
2.1
—
—
—
0
0
12
147
0.78
0.27
1.3
1.6
—
—
—
0
0
20
172
1.23
0.26
2.3
2.6
—
—
—
0
0
60
577
1.44
0.26
17.7
9.7
—
—
—
0
0
0
10
0.00
0.21
0.0
7.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
2.0
—
—
—
0
0
0
12
0.00
0.21
0.0
3.2
—
20.33
—
0
12
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
14
0.00
0.20
0.0
3.9
—
3.73
—
0
14
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
0
14
0.00
0.20
0.0
1.5
—
—
—
0
0
6
52
1.17
0.19
1.3
2.0
—
—
—
0
0
7
60
1.19
0.18
1.0
1.2
—
—
—
0
0
5
43
1.18
0.10
2.0
2.4
—
—
—
0
0
10
112
0.87
0.08
2.2
1.7
—
—
—
0
0
8
75
1.08
0.08
3.9
5.3
1.25
2.40
ug/l
—
8
64
8
77
1.04
0.07
2.1
1.5
—
—
—
0
0
21
223
0.91
0.07
1.4
1.8
—
—
—
0
0
19
180
1.08
0.04
3.8
2.5
—
—
—
0
0
17
161
1.08
0.03
3.9
2.9
—
—
—
0
0
15
142
1.07
0.03
4.5
3.4
0.00
0.00
estimate
—
6
48
0
5
0.00
0.00
0.0
1.6
—
—
—
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
5
0.00
0.00
0.0
1.0
—
202.36
—
0
5
0
5
0.00
0.00
0.0
1.0
—
—
—
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
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
22.15
—
0
6
0
6
0.00
-0.00
0.0
1.5
—
105.08
—
0
6
6
61
0.98
-0.00
1.2
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
1.63
—
0
6
0
6
0.00
-0.00
0.0
1.0
—
411.17
—
0
6
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
10
100
1.00
-0.00
1.2
1.7
—
—
—
0
0
0
7
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).