No definition available.
Disorders of sphingolipid metabolism and other lipid storage disorders
E4_SPHINGOLIP
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
- |
4. Check minimum number of eventsNone |
- |
5. Include endpoints |
128 |
6. Filter based on genotype QC (FinnGen only) |
128 |
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
Similar endpoints
↥List of similar endpoints to
Disorders of sphingolipid metabolism and other lipid storage disorders
based on the number of shared cases.
Similar with more cases:
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥
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 | 128 | 80 | 48 |
| Unadjusted period prevalence (%) | 0.02 | 0.03 | 0.02 |
| Median age at first event (years) | 54.70 | 53.33 | 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 (R11)
↥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
- 119
- Matched controls
- 1188
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E75.2
ICD-10 Finland
Other sphingolipidosis
+∞
64.6
56
*
E75.5
ICD-10 Finland
Other lipid storage disorders
+∞
21.5
20
*
N08.4*E75.2
ICD-10 Finland
Glomerular disorders in Fabry(-Anderson) disease
+∞
19.3
18
*
E75.6
ICD-10 Finland
Lipid storage disorder, unspecified
+∞
19.3
18
*
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
21.8
17.9
26
15
N08.4
ICD-10 Finland
Glomerular disorders in other endocrine, nutritional and metabolic diseases
+∞
12.7
12
*
Z31.5
ICD-10 Finland
Genetic counselling
10.4
12.3
24
28
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
7.4
12.1
30
52
ZX120
NOMESCO Finland
Intravenous
7.8
10.8
25
39
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
5.0
10.4
36
94
195
Kela drug reimbursment
Agalsidase alfa, agalsidase beta and migalastat
+∞
9.5
9
*
WX892
NOMESCO Finland
Monitored bed care
7.3
8.8
21
34
E75.0
ICD-10 Finland
GM2gangliosidosis
+∞
8.4
8
*
XF402
NOMESCO Finland
ECG with work load test
5.3
8.3
26
60
FM1DG
NOMESCO Finland
Very extensive MRI examination of heart with high intesity magnet
24.0
8.2
11
5
TPH04
NOMESCO Finland
Cathetrisation of vein
3.9
8.0
36
119
336
Kela drug reimbursment
Agalsidase alfa, agalsidase beta and migalastat
+∞
7.4
7
*
E75.3
ICD-10 Finland
Sphingolipidosis, unspecified
+∞
7.4
7
*
151
Kela drug reimbursment
Eliglustat, imiglucerase and velaglucerase alfa
+∞
7.4
7
*
B01AC04
ATC
clopidogrel; oral
5.0
7.2
23
54
XF404
NOMESCO Finland
Ambulatory ECG
5.2
6.9
21
47
E78.9
ICD-10 Finland
Disorder of lipoprotein metabolism, unspecified
42.5
6.8
8
*
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
24.1
6.8
9
*
XF400
NOMESCO Finland
ECG with 12 standard connections
3.9
6.6
28
87
C10AA01
ATC
simvastatin; oral
2.8
6.6
58
303
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.7
6.4
59
315
XFE00
NOMESCO Finland
Epicardial ultrasonography
19.3
6.4
9
5
A16AB04
ATC
agalsidase beta; parenteral
+∞
6.3
6
*
333
Kela drug reimbursment
Eliglustat, imiglucerase and velaglucerase alfa
+∞
6.3
6
*
6AB04
NOMESCO Finland
NA
+∞
6.3
6
*
E75.4
ICD-10 Finland
Neuronal ceroid lipofuscinosis
+∞
6.3
6
*
E75.1
ICD-10 Finland
Other gangliosidosis
+∞
6.3
6
*
C10AX09
ATC
ezetimibe; oral
5.7
6.2
17
34
M04AA01
ATC
allopurinol; systemic
4.3
6.0
22
60
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
27
65
5.00
10.99
3.7
2.0
83.8
74.2
ml/min/173m2
0.47
17
22
58
246
3.48
10.77
4.7
3.5
894.8
986.9
ng/l
0.11
53
209
61
271
3.39
10.45
5.6
3.6
18.9
5.0
mg/mmol
0.95
49
165
67
357
2.84
7.79
4.3
3.2
27.2
46.3
ng/l
0.74
45
233
23
67
3.97
7.24
7.4
2.9
1.7
2.6
mmol/l
0.54
17
49
31
115
3.24
6.79
5.1
1.8
23.0
23.4
%
0.04
26
98
14
31
4.95
6.15
2.1
1.5
—
—
—
0
0
14
31
4.95
6.15
2.1
1.5
4.3
3.7
g/l
—
8
22
14
31
4.95
6.15
2.1
1.5
7.2
8.0
g/l
—
9
22
72
441
2.45
5.78
13.6
6.3
1.2
1.2
mmol/l
0.32
62
373
37
171
2.64
5.37
5.5
3.2
436.8
257.9
ng/l
0.27
30
120
59
345
2.32
5.09
3.9
2.6
—
—
—
0
0
31
141
2.58
4.59
4.8
4.4
0.8
0.8
mmol/l
0.00
31
128
64
402
2.18
4.50
12.2
6.3
1.2
1.2
mmol/l
0.31
59
361
11
26
4.53
4.45
2.5
1.7
1.0
1.3
g/l
0.12
11
21
48
271
2.23
4.38
3.9
2.5
0.4
0.5
e6/l
0.03
42
200
79
544
2.18
4.35
4.9
5.1
6.8
6.6
mmol/l
0.26
73
505
100
788
2.23
3.51
5.1
3.7
14.7
14.8
pmol/l
0.05
93
701
22
100
2.45
3.22
1.8
1.6
—
—
—
0
0
28
142
2.24
3.21
3.2
2.4
2.5
1.8
e6/l
0.18
20
79
86
655
1.95
3.12
4.7
2.9
46.0
42.6
u/l
0.17
80
618
5
5
10.33
3.00
2.4
1.2
—
—
—
0
0
28
147
2.16
2.95
1.7
1.7
—
—
—
0
0
62
433
1.84
2.87
4.8
2.4
149.1
93.7
ug/l
1.16
56
397
40
244
1.93
2.80
3.6
2.3
355.1
5851.5
umol/l
1.07
34
200
79
605
1.80
2.61
10.2
8.7
5.2
3.8
e9/l
0.61
72
539
20
99
2.21
2.42
1.9
1.6
—
—
—
0
0
6
13
4.78
2.30
1.5
1.2
—
—
—
0
0
12
48
2.66
2.26
2.9
3.8
0.5
2.1
mmol/l
—
6
39
12
48
2.66
2.26
1.2
1.3
—
—
—
0
0
61
447
1.70
2.24
3.3
4.4
—
—
—
0
0
68
514
1.69
2.22
6.9
6.6
13.0
11.3
umol/l
0.46
61
484
26
157
1.82
1.84
3.2
2.3
0.6
0.7
e6/l
0.21
18
93
12
54
2.35
1.80
3.3
3.5
5.0
5.3
kpa
0.90
12
49
6
18
3.44
1.77
1.3
1.6
—
—
—
0
0
51
383
1.55
1.58
2.1
1.8
92.8
101.0
pmol/l
0.65
28
197
28
181
1.70
1.57
1.5
1.7
1146.3
1277.2
nmol/l
0.30
21
138
41
296
1.57
1.49
2.7
2.4
64.8
55.5
u/l
0.28
36
267
9
38
2.47
1.49
2.1
2.4
0.9
1.3
%
—
9
38
64
510
1.51
1.48
4.5
3.3
0.0
0.0
estimate
—
9
92
63
502
1.50
1.45
4.5
3.3
0.0
0.0
estimate
—
10
98
0
38
0.00
1.37
0.0
1.6
—
256.3
—
0
22
0
37
0.00
1.37
0.0
1.2
—
—
—
0
0
17
100
1.81
1.31
2.4
3.1
13.3
7.4
umol/l
0.54
12
89
62
501
1.46
1.29
6.9
4.6
0.0
0.0
estimate
—
10
96
6
25
2.47
1.26
1.5
1.2
—
—
—
0
0
5
20
2.56
1.16
1.0
1.5
—
—
—
0
0
0
36
0.00
1.16
0.0
1.3
—
—
—
0
0
26
180
1.56
1.12
1.7
1.8
407.8
446.7
pmol/l
0.35
18
154
29
209
1.50
1.05
1.8
2.5
—
—
—
0
0
5
22
2.32
1.04
1.0
1.5
—
—
—
0
0
5
22
2.32
1.04
2.8
2.9
21.8
26.9
mmol/l
—
5
14
112
1037
1.64
1.04
22.4
12.1
26.6
21.1
mg/l
0.91
92
786
11
61
1.88
1.02
2.5
1.5
—
—
—
0
0
7
36
2.00
0.98
7.3
2.5
46.2
50.5
%
—
7
36
15
94
1.67
0.95
4.4
3.0
—
—
—
0
0
6
29
2.12
0.90
3.0
2.1
—
—
—
0
0
9
150
0.57
0.85
2.1
2.4
—
—
—
0
0
103
949
1.44
0.84
6.7
4.4
1.9
1.9
mu/l
0.11
98
851
14
90
1.62
0.82
6.9
14.2
2.3
1.6
mmol/l
—
8
74
12
75
1.66
0.78
2.0
2.5
0.2
0.2
g/l
0.14
12
70
6
34
1.80
0.77
1.3
1.6
—
—
—
0
0
9
142
0.61
0.75
2.0
2.1
—
—
—
0
0
7
38
1.89
0.75
2.4
1.3
47.2
25.9
iu/l
—
7
32
5
27
1.89
0.69
1.2
1.2
—
—
—
0
0
5
27
1.89
0.69
1.6
1.1
—
—
—
0
0
102
949
1.37
0.69
5.9
3.8
1.5
1.2
mmol/l
2.20
96
867
5
28
1.82
0.67
1.2
1.2
2.2
332.1
e6/l
—
5
23
5
29
1.75
0.64
1.4
2.0
—
—
—
0
0
8
53
1.54
0.59
1.6
1.6
—
—
—
0
0
21
270
0.73
0.59
1.9
1.5
1.4
1.3
mmol/l
0.22
21
220
102
960
1.31
0.54
20.5
10.8
80.8
83.0
ml/min/173m2
0.32
87
759
11
76
1.49
0.50
19.3
3.4
1.2
1.2
mmol/l
0.13
11
66
60
663
0.82
0.48
3.4
3.3
—
—
—
0
0
0
16
0.00
0.41
0.0
1.3
—
136.7
—
0
9
0
18
0.00
0.40
0.0
1.3
—
—
—
0
0
0
18
0.00
0.40
0.0
1.3
—
—
—
0
0
46
410
1.19
0.37
4.8
3.4
—
—
—
0
0
24
283
0.81
0.35
5.1
3.5
0.0
0.0
estimate
—
9
92
103
988
1.22
0.34
5.2
4.3
6.1
5.8
mmol/l
0.98
94
896
26
223
1.21
0.31
2.5
1.8
1.1
1.0
mg/l
0.16
20
174
103
992
1.20
0.29
6.3
4.0
1.3
1.5
mmol/l
5.19
97
908
38
345
1.14
0.24
2.9
2.9
2.3
2.4
mmol/l
2.25
30
298
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.6
—
—
—
0
0
0
10
0.00
0.21
0.0
2.9
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
0
13
0.00
0.21
0.0
1.7
—
—
—
0
0
0
14
0.00
0.20
0.0
2.8
—
62.8
—
0
14
16
183
0.86
0.17
1.3
1.5
—
—
—
0
0
6
79
0.75
0.16
2.8
2.0
—
—
—
0
0
14
121
1.18
0.16
6.7
4.3
28.9
32.3
%
—
9
72
102
998
1.11
0.13
6.5
4.1
4.5
4.7
mmol/l
1.23
96
921
21
228
0.91
0.11
3.4
4.4
25.8
21.2
%
—
10
117
21
199
1.07
0.05
1.6
1.6
—
—
—
0
0
20
190
1.06
0.04
1.1
1.3
1.1
6.6
u/ml
—
8
72
12
126
0.95
0.00
4.3
6.8
—
—
—
0
0
17
174
0.97
0.00
2.4
3.2
0.9
0.7
ug/l
0.33
11
122
0
5
0.00
0.00
0.0
2.6
—
—
—
0
0
0
5
0.00
0.00
0.0
2.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
2.1
—
—
—
0
0
0
8
0.00
0.00
0.0
2.1
—
—
—
0
0
0
8
0.00
0.00
0.0
2.1
—
—
—
0
0
0
5
0.00
0.00
0.0
2.2
—
—
—
0
0
0
6
0.00
0.00
0.0
2.7
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
2.7
—
—
—
0
0
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
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: 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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