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Disorders of sphingolipid metabolism and other lipid storage disorders

DOID Endpoint Browser PheWeb

E4_SPHINGOLIP

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
  • Cause of death: ICD-10 — E75

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

-

4. Check minimum number of events

None

-

5. Include endpoints

131

6. Filter based on genotype QC (FinnGen only)

126

Control definitions (FinnGen only)

Control exclude
E4_METABOLIA

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E70-E90
Name in latin
Perturbationes metabolismi sphingolipidorum et aliae perturbationes accumulationis lipidorum

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 1246 706 535
Only index persons 803 474 329
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.01
Only index persons 0.02 0.02 0.01
Median age at first event (years)
Whole population 36.20 39.79 31.10
Only index persons 46.79 48.86 43.80

-FinnGen-

Key figures

All Female Male
Number of individuals 126 78 48
Unadjusted period prevalence (%) 0.03 0.03 0.02
Median age at first event (years) 56.00 55.38 57.00

-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
131
Matched controls
1310
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E75.2
ICD-10 Finland
Other sphingolipidosis
+∞
71.6
62
*
Z31.5
ICD-10 Finland
Genetic counselling
10.1
22.7
29
36
E75.5
ICD-10 Finland
Other lipid storage disorders
+∞
22.5
21
*
N08.4*E75.2
ICD-10 Finland
Glomerular disorders in Fabry(-Anderson) disease
+∞
22.5
21
*
E75.6
ICD-10 Finland
Lipid storage disorder, unspecified
+∞
20.3
19
*
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
15.1
16.8
28
23
XF402
NOMESCO Finland
ECG with work load test
6.2
14.9
29
57
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
4.7
14.3
42
119
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
5.0
13.2
34
86
WX892
NOMESCO Finland
Monitored bed care
6.9
13.1
22
37
195
Kela drug reimbursment
Agalsidase alfa, agalsidase beta and migalastat
+∞
12.7
12
*
ZX120
NOMESCO Finland
Intravenous
5.2
11.9
28
65
336
Kela drug reimbursment
Agalsidase alfa, agalsidase beta and migalastat
+∞
11.6
11
*
TPH04
NOMESCO Finland
Cathetrisation of vein
4.0
11.5
42
138
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
119.2
10.6
11
*
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
4.9
9.9
24
57
C10AA01
ATC
simvastatin; oral
3.2
9.6
62
289
E75.0
ICD-10 Finland
GM2gangliosidosis
107.5
9.5
10
*
XF404
NOMESCO Finland
Ambulatory ECG
4.8
9.2
23
56
FM1DG
NOMESCO Finland
Very extensive MRI examination of heart with high intesity magnet
20.4
9.1
13
7
I25.1
ICD-10 Finland
Atherosclerotic heart disease
3.8
8.8
31
98
E75.3
ICD-10 Finland
Sphingolipidosis, unspecified
+∞
8.4
8
*
C03CA01
ATC
furosemide; systemic
3.1
8.2
48
208
B01AC04
ATC
clopidogrel; oral
3.9
8.2
27
81
138
Kela drug reimbursment
Severe anaemia associated with chronic renal failure
47.9
7.8
9
*
I20.99
ICD-10 Finland
Angina pectoris, unspecified
7.6
7.6
17
25
A11CC03
ATC
alfacalcidol; systemic
84.7
7.5
8
*
A16AB04
ATC
agalsidase beta; parenteral
+∞
7.4
7
*
6AB04, ,
NOMESCO Finland
+∞
7.4
7
*
333
Kela drug reimbursment
Eliglustat, imiglucerase and velaglucerase alfa
+∞
7.4
7
*
N18.0
ICD-10 Finland
End-stage renal disease
+∞
7.4
7
*
E75.1
ICD-10 Finland
Other gangliosidosis
+∞
7.4
7
*
151
Kela drug reimbursment
Eliglustat, imiglucerase and velaglucerase alfa
+∞
7.4
7
*
Z01.8
ICD-10 Finland
Other specified special examinations
3.1
7.3
39
159
TK800
NOMESCO Finland
Hemodialysis
21.5
7.2
10
5
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
31.9
7.2
9
*
N17.9
ICD-10 Finland
Acute renal failure, unspecified
11.0
7.2
13
13
AA1AD
NOMESCO Finland
CT of head and brain
3.0
7.2
42
180
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.7
7.2
70
392
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
11.9
7.0
12
11
XFE00
NOMESCO Finland
Epicardial ultrasonography
24.0
6.8
9
*
C10AA05
ATC
atorvastatin; oral
2.7
6.7
55
280
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
3.6
6.6
24
77
XF400
NOMESCO Finland
ECG with 12 standard connections
3.3
6.5
28
100
FM1CG
NOMESCO Finland
Extensive examination of hear with high intensity magnet
73.3
6.5
7
*
A12AA04
ATC
calcium carbonate; oral
73.3
6.5
7
*
XFP20
NOMESCO Finland
Check up of cardiac pacemaker
6.4
6.4
16
28
E78.9
ICD-10 Finland
Disorder of lipoprotein metabolism, unspecified
28.2
6.3
8
*
PBL10
NOMESCO Finland
Construction of arteriovenous fistula from radial artery
+∞
6.3
6
*
E75.4
ICD-10 Finland
Neuronal ceroid lipofuscinosis
+∞
6.3
6
*
Z3229
NOMESCO Finland
Other healthcare associate professional
3.8
6.1
20
59

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
65
254
4.09
14.33
4.7
3.0
983.00
271.41
mg/l
0.35
53
169
64
273
3.63
11.95
5.5
3.5
18.92
4.94
mg/mmol
1.01
51
168
63
284
3.35
10.49
5.0
2.8
7.54
8.08
mmol/l
0.44
57
234
68
360
2.85
8.01
4.2
3.1
27.38
45.50
ng/l
0.70
46
236
24
68
4.10
7.85
7.7
2.9
1.67
2.67
mmol/l
0.62
18
51
32
114
3.39
7.51
5.6
1.8
22.93
22.95
%
0.00
27
97
74
445
2.52
6.30
14.2
6.3
1.22
1.22
mmol/l
0.26
64
379
38
166
2.82
6.20
5.5
3.2
423.03
270.89
ng/l
0.22
31
114
33
139
2.84
5.73
4.7
4.5
0.82
0.83
mmol/l
0.16
33
128
51
272
2.43
5.47
3.9
2.5
0.42
0.47
e6/l
0.07
45
204
75
477
2.34
5.34
7.5
6.0
—
—
—
0
0
80
524
2.35
5.31
7.0
5.1
0.04
0.04
e9/l
0.26
71
467
80
524
2.35
5.31
7.0
5.1
0.57
0.55
e9/l
0.26
71
466
45
233
2.42
5.10
6.1
4.4
—
—
—
0
0
81
543
2.29
4.96
7.1
5.3
0.17
0.19
e9/l
0.44
71
491
19
63
3.36
4.90
12.6
10.5
—
—
—
0
0
49
268
2.32
4.87
3.6
2.4
—
—
—
0
0
49
268
2.32
4.87
12.6
3.0
7.39
7.40
ph
—
7
49
81
546
2.27
4.85
4.8
5.0
6.76
6.60
mmol/l
0.24
74
508
66
410
2.23
4.83
12.3
6.3
1.22
1.21
mmol/l
0.27
61
371
16
49
3.58
4.64
4.4
1.6
—
—
—
0
0
80
547
2.19
4.49
7.1
5.2
1.76
1.84
e9/l
0.29
73
502
10
17
6.27
4.22
1.5
1.3
—
—
—
0
0
58
357
2.12
4.20
4.8
3.1
38.00
95.66
e6/l
0.96
47
257
52
308
2.14
4.15
4.0
2.6
20.75
267.55
e6/l
0.63
46
239
103
799
2.35
3.99
5.1
3.6
14.74
14.75
pmol/l
0.00
96
710
8
11
7.66
3.92
3.8
4.4
—
—
—
0
0
30
145
2.39
3.86
3.1
2.5
2.39
1.78
e6/l
0.17
21
82
93
706
2.09
3.60
6.3
3.9
—
—
—
0
0
8
13
6.47
3.56
6.3
1.9
—
—
—
0
0
66
446
1.97
3.55
12.9
8.6
0.00
0.01
e9/l
0.50
56
364
63
427
1.92
3.29
15.2
11.5
1.49
1.25
inr
—
9
134
64
444
1.86
3.05
5.0
2.4
151.20
92.43
ug/l
1.31
58
408
41
246
1.97
3.02
3.6
2.2
357.89
5738.66
umol/l
1.07
35
204
8
17
4.94
2.97
3.4
2.5
3.20
5.12
e9/l
—
8
17
71
515
1.83
2.88
6.9
6.5
12.79
11.15
umol/l
0.46
63
485
8
18
4.66
2.84
3.4
3.7
54.50
59.39
%
—
8
18
14
54
2.78
2.81
2.4
2.4
—
—
—
0
0
81
615
1.83
2.80
10.4
8.6
5.13
3.81
e9/l
0.62
74
550
7
16
4.56
2.51
5.1
2.9
5.89
7.72
mmol/l
—
7
16
86
684
1.75
2.36
5.2
3.5
—
—
—
0
0
7
18
4.05
2.28
5.1
2.7
1.46
1.92
mmol/l
—
7
18
5
10
5.15
2.09
1.6
2.5
68.00
60.83
%
—
5
10
10
38
2.76
2.05
9.1
28.1
—
—
—
0
0
13
57
2.42
2.05
4.4
3.6
4.92
5.25
kpa
1.13
13
57
42
284
1.70
2.03
2.0
2.4
—
—
—
0
0
19
99
2.08
2.03
1.3
1.6
—
—
—
0
0
53
382
1.65
2.01
2.1
1.8
95.15
100.61
pmol/l
0.39
30
200
43
294
1.69
1.99
2.7
2.4
65.92
56.02
u/l
0.31
37
266
18
93
2.08
1.96
7.6
6.3
104.61
104.00
mmol/l
0.19
18
93
29
178
1.81
1.94
1.5
1.6
1106.14
1252.26
nmol/l
0.35
22
136
55
407
1.61
1.85
4.0
3.1
5.40
5.74
ph
—
5
29
15
74
2.16
1.83
2.8
5.3
0.20
0.15
%
—
5
26
66
516
1.56
1.73
4.5
3.4
0.00
0.00
estimate
—
9
93
14
69
2.15
1.72
1.9
5.2
1.00
0.78
%
—
5
23
19
106
1.93
1.70
1.5
1.4
—
—
—
0
0
10
41
2.56
1.68
3.0
3.9
—
—
—
0
0
65
511
1.54
1.63
4.4
3.4
0.00
0.00
estimate
—
10
104
10
44
2.38
1.59
5.6
3.2
—
—
—
0
0
15
79
2.01
1.57
2.8
5.1
3.40
1.05
%
—
5
31
5
15
3.42
1.54
5.6
2.8
—
—
—
0
0
64
507
1.51
1.52
6.8
4.6
0.00
0.00
estimate
—
10
96
6
21
2.94
1.52
3.2
3.0
21.75
26.04
mmol/l
—
6
21
9
37
2.54
1.51
2.0
2.4
0.43
0.75
%
—
9
37
9
38
2.47
1.49
2.1
2.4
0.92
1.31
%
—
9
38
6
23
2.68
1.38
2.7
1.4
—
—
—
0
0
6
23
2.68
1.38
1.0
1.0
—
—
—
0
0
0
38
0.00
1.37
0.0
1.6
—
256.27
—
0
22
42
311
1.52
1.35
3.6
2.5
—
—
—
0
0
107
967
1.58
1.21
6.6
4.3
1.93
1.92
mu/l
0.04
102
869
6
26
2.37
1.20
7.0
3.6
—
—
—
0
0
15
88
1.80
1.17
6.5
14.5
2.26
1.64
mmol/l
—
8
73
0
35
0.00
1.17
0.0
1.3
—
—
—
0
0
35
257
1.49
1.16
10.1
6.0
—
—
—
0
0
115
1061
1.69
1.14
22.4
11.8
26.53
21.77
mg/l
0.76
94
798
17
105
1.71
1.12
2.4
3.0
13.25
7.32
umol/l
0.56
12
93
5
21
2.43
1.10
4.4
4.0
9.58
8.29
kpa
—
5
21
5
106
0.45
1.07
1.6
1.3
—
—
—
0
0
26
183
1.52
1.04
1.7
1.7
407.78
442.79
pmol/l
0.31
18
157
5
22
2.32
1.04
1.0
1.0
—
—
—
0
0
7
35
2.06
1.01
2.1
1.4
—
—
—
0
0
0
32
0.00
0.96
0.0
3.8
—
—
—
0
0
7
37
1.94
0.95
2.4
1.3
47.19
26.00
iu/l
—
7
32
6
27
2.28
0.95
2.7
2.9
—
—
—
0
0
77
675
1.34
0.87
6.0
3.9
—
4557.71
—
0
14
20
139
1.52
0.85
2.0
2.4
—
—
—
0
0
14
89
1.64
0.85
1.4
1.8
—
—
—
0
0
16
106
1.58
0.83
1.4
1.3
—
—
—
0
0
6
32
1.92
0.83
1.0
1.6
—
—
—
0
0
38
302
1.36
0.81
4.1
3.1
—
—
—
0
0
29
221
1.40
0.79
4.1
3.4
—
—
—
0
0
13
83
1.63
0.78
1.7
1.3
—
—
—
0
0
12
77
1.61
0.71
2.0
2.5
0.21
0.20
g/l
0.17
12
72
104
970
1.35
0.66
5.9
3.7
1.54
1.24
mmol/l
2.23
98
887
5
29
1.75
0.64
1.2
1.2
2.20
332.13
e6/l
—
5
23
5
29
1.75
0.64
1.2
1.0
1.40
4.04
e6/l
—
5
23
8
51
1.60
0.62
1.1
1.2
—
—
—
0
0
0
20
0.00
0.61
0.0
1.2
—
—
—
0
0
35
288
1.29
0.59
6.1
3.2
—
—
—
0
0
106
1004
1.29
0.50
5.2
4.2
6.10
5.80
mmol/l
0.99
97
909
11
76
1.49
0.50
19.3
3.4
1.21
1.22
mmol/l
0.16
11
66
40
346
1.22
0.44
2.8
2.9
2.29
2.35
mmol/l
2.04
32
300
39
337
1.22
0.43
4.0
2.5
—
—
—
0
0
15
114
1.36
0.43
1.5
1.6
—
—
—
0
0
8
58
1.40
0.42
1.6
1.2
—
—
—
0
0
36
414
0.82
0.42
2.1
2.0
—
—
—
0
0
0
16
0.00
0.41
0.0
1.9
—
—
—
0
0
0
17
0.00
0.41
0.0
1.2
—
—
—
0
0
106
1012
1.25
0.40
6.3
4.0
1.31
1.51
mmol/l
5.63
100
928
17
135
1.30
0.37
1.2
1.2
—
—
—
0
0
24
284
0.81
0.36
5.1
3.6
0.00
0.01
estimate
—
9
93
114
1102
1.27
0.34
21.2
10.9
—
—
—
0
0
12
92
1.34
0.33
4.4
3.4
—
—
—
0
0
6
47
1.29
0.32
1.0
1.1
—
—
—
0
0
6
47
1.29
0.32
14.3
13.3
93.33
93.84
%
—
6
47
7
96
0.71
0.32
1.0
1.2
—
—
—
0
0
28
243
1.19
0.30
4.6
3.3
1.01
1.02
kg/l
—
9
41
26
224
1.20
0.30
2.5
1.8
1.13
1.01
mg/l
0.16
20
178
15
121
1.27
0.30
2.3
1.5
—
—
—
0
0
10
77
1.32
0.27
4.1
2.9
—
—
—
0
0
12
96
1.28
0.25
1.6
1.5
—
—
—
0
0
9
76
1.20
0.25
2.6
2.5
—
—
—
0
0
5
37
1.36
0.24
1.0
1.1
—
—
—
0
0
5
39
1.29
0.23
2.0
2.4
—
—
—
0
0
105
1018
1.16
0.23
6.5
4.1
4.45
4.70
mmol/l
1.38
99
942
0
11
0.00
0.21
0.0
2.8
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.8
—
—
—
0
0
0
13
0.00
0.21
0.0
2.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
11
91
1.23
0.18
4.7
3.9
—
—
—
0
0
10
83
1.22
0.16
1.2
1.4
—
—
—
0
0
6
80
0.74
0.16
1.3
1.4
—
—
—
0
0
31
287
1.10
0.14
1.4
1.5
—
—
—
0
0
25
230
1.11
0.12
1.4
1.3
2.52
2.34
g/l
0.19
14
128
23
214
1.09
0.09
2.2
2.0
—
—
—
0
0
6
53
1.14
0.09
1.2
12.8
—
—
—
0
0
6
58
1.04
0.08
1.2
1.2
2527.17
160.58
u/ml
—
6
51
20
190
1.06
0.04
1.1
1.3
1.09
6.68
u/ml
—
8
70
118
1186
0.95
0.00
33.3
17.4
39.61
40.33
%
0.68
109
1115
12
124
0.96
0.00
1.1
1.2
—
—
—
0
0
18
176
1.03
0.00
2.3
3.2
0.89
0.74
ug/l
0.27
12
125
12
123
0.97
0.00
1.4
1.7
—
—
—
0
0
16
162
0.99
0.00
2.4
1.6
—
—
—
0
0
0
9
0.00
0.00
0.0
1.8
—
—
—
0
0
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
9.17
—
0
6
0
7
0.00
-0.00
0.0
3.1
—
62.79
—
0
7
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
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
79.43
—
0
7
0
5
0.00
-0.00
0.0
1.4
—
1191.00
—
0
5
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
105.08
—
0
6
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
51.80
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0

Mortality – FinRegistry

↥

Association

Association between endpoint E4_SPHINGOLIP and mortality.

Females

Parameter HR [95% CI] p-value
E4_SPHINGOLIP 3.646 [2.73, 4.87] < 0.001
Birth year 0.999 [0.99, 1.01] 0.732

During the follow-up period (1.1.1998 — 31.12.2019), 168 out of 492 females with E4_SPHINGOLIP died.

Males

Parameter HR [95% CI] p-value
E4_SPHINGOLIP 3.928 [2.65, 5.83] < 0.001
Birth year 0.989 [0.98, 1.0] 0.021

During the follow-up period (1.1.1998 — 31.12.2019), 135 out of 358 males with E4_SPHINGOLIP died.

Mortality risk

Mortality risk for people of age

years, who have E4_SPHINGOLIP.

N-year risk Females Males
1 0.297% 0.842%
5 2.115% 4.462%
10 5.718% 11.325%
15 11.212% 20.673%
20 19.21% 34.437%

Relationships between endpoints

↥

Index endpoint: E4_SPHINGOLIP – Disorders of sphingolipid metabolism and other lipid storage disorders

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
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