No definition available.
Disorders of sphingolipid metabolism and other lipid storage disorders
E4_SPHINGOLIP
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
557745 |
1. Apply sex-specific ruleNone |
557745 |
2. Check conditionsNone |
557745 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
150 |
4. Check minimum number of eventsNone |
150 |
5. Include endpoints |
156 |
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 (%) | 0.03 | 0.03 | 0.02 |
| Median age at first event (years) | 55.99 | 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
- 133
- Matched controls
- 1330
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E75.2
ICD-10 Finland
Other sphingolipidosis
+∞
72.7
63
*
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
+∞
21.4
20
*
Z31.5
ICD-10 Finland
Genetic counselling
8.9
21.3
30
42
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
15.1
17.4
29
24
XF402
NOMESCO Finland
ECG with work load test
5.7
13.6
29
62
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
4.4
13.5
44
134
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
4.7
13.2
38
105
WX892
NOMESCO Finland
Monitored bed care
6.7
12.7
22
38
195
Kela drug reimbursment
Agalsidase alfa, agalsidase beta and migalastat
+∞
12.7
12
*
336
Kela drug reimbursment
Agalsidase alfa, agalsidase beta and migalastat
+∞
12.7
12
*
ZX120
NOMESCO Finland
Intravenous
5.2
12.2
29
68
TPH04
NOMESCO Finland
Cathetrisation of vein
3.9
11.2
42
140
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
59.4
9.8
11
*
XF404
NOMESCO Finland
Ambulatory ECG
4.9
9.6
23
54
I25.1
ICD-10 Finland
Atherosclerotic heart disease
3.9
9.5
33
103
E75.0
ICD-10 Finland
GM2gangliosidosis
107.3
9.5
10
*
A16AB04
ATC
agalsidase beta; parenteral
+∞
9.5
9
*
C10AA01
ATC
simvastatin; oral
3.1
9.3
62
292
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
4.4
9.0
25
66
B01AC04
ATC
clopidogrel; oral
4.0
8.8
29
87
FM1DG
NOMESCO Finland
Very extensive MRI examination of heart with high intesity magnet
17.8
8.7
13
8
E75.3
ICD-10 Finland
Sphingolipidosis, unspecified
+∞
8.4
8
*
I20.99
ICD-10 Finland
Angina pectoris, unspecified
8.1
8.3
18
25
Z01.8
ICD-10 Finland
Other specified special examinations
3.2
8.1
42
169
C03CA01
ATC
furosemide; systemic
2.9
7.8
49
220
N17.9
ICD-10 Finland
Acute renal failure, unspecified
10.3
7.5
14
15
Z01.0
ICD-10 Finland
Examination of eyes and vision
3.2
7.5
35
132
E75.1
ICD-10 Finland
Other gangliosidosis
+∞
7.4
7
*
333
Kela drug reimbursment
Eliglustat, imiglucerase and velaglucerase alfa
+∞
7.4
7
*
6AB04, ,
NOMESCO Finland
+∞
7.4
7
*
151
Kela drug reimbursment
Eliglustat, imiglucerase and velaglucerase alfa
+∞
7.4
7
*
138
Kela drug reimbursment
Severe anaemia associated with chronic renal failure
31.9
7.2
9
*
XF400
NOMESCO Finland
ECG with 12 standard connections
3.4
7.0
29
101
A11CC03
ATC
alfacalcidol; systemic
42.3
6.8
8
*
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
23.9
6.8
9
*
E78.9
ICD-10 Finland
Disorder of lipoprotein metabolism, unspecified
23.9
6.8
9
*
XFE00
NOMESCO Finland
Epicardial ultrasonography
23.9
6.8
9
*
AA1AD
NOMESCO Finland
CT of head and brain
2.8
6.7
46
214
C10AA05
ATC
atorvastatin; oral
2.6
6.6
58
305
TK800
NOMESCO Finland
Hemodialysis
15.3
6.5
10
7
N18.0
ICD-10 Finland
End-stage renal disease
73.2
6.5
7
*
FM1CG
NOMESCO Finland
Extensive examination of hear with high intensity magnet
73.2
6.5
7
*
E75.4
ICD-10 Finland
Neuronal ceroid lipofuscinosis
+∞
6.3
6
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.2
6.3
29
108
Z3231
NOMESCO Finland
Registered nurse
2.6
6.2
50
251
Z3229
NOMESCO Finland
Other healthcare associate professional
3.8
6.1
20
59
XFP20
NOMESCO Finland
Check up of cardiac pacemaker
5.9
6.1
16
30
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
30
81
4.49
10.58
5.2
2.0
77.05
69.88
ml/min/173m2
0.32
19
25
69
345
3.08
9.33
6.1
3.6
17.98
5.32
mg/mmol
0.95
54
211
74
406
2.85
8.14
5.0
3.3
44.39
44.49
ng/l
0.00
55
277
26
90
3.35
6.32
8.7
3.6
1.98
1.76
mmol/l
0.11
20
71
19
53
4.02
6.30
10.1
4.3
24.06
24.34
mmol/l
0.16
19
53
38
165
2.82
6.27
4.7
4.2
0.82
0.82
mmol/l
0.12
38
155
67
385
2.49
6.24
3.9
2.8
—
—
—
0
0
26
94
3.20
5.88
8.4
3.5
5.70
5.69
kpa
0.02
26
87
41
192
2.64
5.80
5.9
3.5
375.29
428.94
ng/l
0.07
35
131
80
523
2.33
5.29
15.6
6.9
1.22
1.21
mmol/l
0.36
73
445
54
305
2.30
4.98
4.1
2.7
0.41
0.41
e6/l
0.01
48
231
7
5
14.66
4.63
2.7
1.2
1707.57
304.80
mg
—
7
5
20
80
2.77
3.75
5.1
2.9
5.05
4.35
kpa
0.77
20
75
13
35
4.00
3.71
5.5
1.6
0.95
0.95
g/l
0.00
13
29
31
159
2.24
3.46
3.3
2.7
2.28
1.80
e6/l
0.14
22
82
107
877
2.13
3.02
5.9
4.1
14.87
14.81
pmol/l
0.10
101
784
13
48
2.89
2.81
1.2
1.3
—
—
—
0
0
93
736
1.88
2.78
5.1
3.1
43.99
43.58
u/l
0.02
88
697
72
529
1.79
2.74
5.6
2.9
142.90
95.86
ug/l
1.06
67
491
43
271
1.87
2.70
3.9
2.5
345.32
331.92
umol/l
0.34
37
228
20
95
2.30
2.65
3.2
2.3
304.40
392.77
nmol/l
1.57
20
88
85
661
1.79
2.62
11.0
9.4
5.00
3.84
e9/l
0.56
78
592
78
593
1.76
2.59
7.1
6.7
12.54
11.34
umol/l
0.35
72
563
5
7
7.36
2.57
5.2
1.6
42.16
63.47
ug/l
—
5
7
10
33
3.19
2.41
6.2
1.7
0.00
0.00
g/l
—
10
28
30
177
1.90
2.27
2.0
1.8
—
—
—
0
0
23
124
2.03
2.24
2.1
1.7
—
—
—
0
0
14
61
2.45
2.23
4.1
2.9
137.93
126.22
g/l
0.91
14
55
13
55
2.51
2.20
4.0
3.7
0.50
2.19
mmol/l
—
6
44
6
14
4.43
2.17
1.5
1.2
—
—
—
0
0
66
502
1.62
2.01
2.4
3.0
—
—
estimate
—
0
0
48
337
1.66
2.01
2.6
2.5
65.73
69.16
u/l
0.07
41
307
29
179
1.79
1.90
1.5
1.6
1106.14
1245.42
nmol/l
0.33
22
138
8
29
2.87
1.82
2.6
2.7
22.60
25.79
mmol/l
—
8
29
22
126
1.89
1.82
7.3
7.3
104.91
104.28
mmol/l
0.24
22
126
29
184
1.74
1.73
3.3
2.5
0.57
0.72
e6/l
0.33
20
108
14
69
2.15
1.72
4.2
3.2
4.93
5.21
kpa
1.04
14
69
22
130
1.83
1.66
2.3
1.7
—
—
—
0
0
5
14
3.67
1.63
1.2
1.2
—
—
—
0
0
5
14
3.67
1.63
1.2
1.2
—
—
—
0
0
7
26
2.78
1.60
1.3
1.5
—
—
—
0
0
14
72
2.06
1.55
2.3
1.4
—
—
—
0
0
18
102
1.88
1.54
5.8
14.6
2.19
1.30
mmol/l
0.28
11
88
5
15
3.42
1.53
1.6
1.7
0.86
0.28
nmol/l
—
5
10
62
489
1.50
1.49
2.3
1.9
97.59
100.30
pmol/l
0.20
36
252
5
19
2.69
1.22
5.6
8.1
12.02
10.99
mg/l
—
5
19
0
35
0.00
1.17
0.0
1.3
—
—
—
0
0
28
198
1.52
1.10
1.8
1.8
398.35
445.88
pmol/l
0.49
20
169
7
33
2.18
1.07
1.4
1.3
—
—
—
0
0
10
53
1.96
1.04
2.9
2.8
0.43
0.66
%
—
10
53
5
22
2.32
1.04
1.0
1.5
—
—
—
0
0
49
391
1.40
1.04
2.5
2.9
2.30
2.35
mmol/l
1.64
42
351
10
54
1.92
0.99
3.0
2.7
0.91
1.28
%
—
10
54
74
638
1.36
0.96
4.8
3.5
0.00
0.00
estimate
-0.00
14
128
73
631
1.35
0.91
4.7
3.5
0.00
0.00
estimate
-0.00
15
135
6
29
2.12
0.90
1.3
1.4
—
—
—
0
0
72
624
1.34
0.87
4.7
3.5
0.00
0.00
estimate
-0.00
15
134
6
32
1.92
0.83
1.7
1.2
—
—
—
0
0
0
24
0.00
0.80
0.0
1.3
—
—
—
0
0
15
100
1.56
0.77
1.7
1.4
—
—
—
0
0
5
24
2.12
0.75
1.4
1.3
—
—
—
0
0
13
85
1.59
0.72
17.7
3.7
1.22
1.22
mmol/l
0.02
13
69
7
42
1.70
0.69
1.3
1.6
—
—
—
0
0
118
1120
1.48
0.67
25.9
13.6
26.08
22.49
mg/l
0.57
101
897
11
164
0.64
0.66
2.3
2.5
—
—
—
0
0
15
104
1.50
0.66
4.4
3.2
—
—
—
0
0
113
1067
1.39
0.64
23.7
13.0
79.32
82.91
ml/min/173m2
0.65
107
976
43
361
1.28
0.62
4.0
3.0
0.00
0.00
estimate
-0.00
12
103
5
30
1.69
0.62
1.0
1.5
—
—
—
0
0
0
23
0.00
0.59
0.0
1.3
—
130.56
—
0
9
30
243
1.30
0.56
2.2
2.5
—
—
—
0
0
9
59
1.56
0.56
2.3
1.7
—
—
—
0
0
6
38
1.61
0.55
1.5
1.3
—
—
—
0
0
6
40
1.52
0.52
3.0
2.4
—
—
—
0
0
11
153
0.69
0.49
2.2
2.3
—
—
—
0
0
5
83
0.59
0.47
2.8
2.2
—
—
—
0
0
38
325
1.24
0.46
1.9
1.6
18.36
20.94
nmol/l
0.46
30
267
107
1019
1.26
0.43
6.6
4.1
1.52
1.23
mmol/l
2.37
102
932
5
33
1.53
0.42
1.6
1.2
—
—
—
0
0
0
16
0.00
0.41
0.0
2.8
—
29.36
—
0
16
5
35
1.44
0.39
1.2
1.0
1.40
7.39
e6/l
—
5
28
5
35
1.44
0.39
1.2
1.1
2.20
272.96
e6/l
—
5
28
66
708
0.87
0.32
3.4
3.4
—
—
—
0
0
13
102
1.30
0.31
1.8
2.6
31.08
29.26
u/l
0.14
13
86
13
102
1.30
0.31
2.8
2.1
0.15
0.21
e6/l
0.24
13
97
30
262
1.19
0.30
2.3
1.8
1.00
1.30
mg/l
0.41
24
212
26
225
1.19
0.29
1.6
1.7
—
—
—
0
0
33
366
0.87
0.24
4.6
3.5
0.00
0.01
estimate
0.50
14
122
53
493
1.12
0.23
4.7
3.4
0.00
0.01
estimate
0.50
11
112
17
198
0.84
0.22
1.4
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.9
—
—
—
0
0
0
10
0.00
0.21
0.0
1.9
—
—
—
0
0
0
10
0.00
0.21
0.0
2.9
—
1.00
—
0
10
0
10
0.00
0.21
0.0
1.9
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.6
—
—
—
0
0
0
13
0.00
0.21
0.0
1.8
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
5
67
0.74
0.17
1.0
1.0
—
—
—
0
0
110
1075
1.13
0.17
7.4
4.7
1.33
1.50
mmol/l
4.76
104
990
16
140
1.16
0.16
6.3
4.7
28.78
32.53
%
—
9
81
8
97
0.81
0.14
2.8
2.3
—
—
—
0
0
109
1069
1.11
0.13
6.0
4.8
6.09
5.80
mmol/l
0.95
100
974
23
247
0.92
0.09
3.4
4.8
26.59
21.41
%
1.15
12
136
12
131
0.91
0.06
4.8
6.4
—
—
—
0
0
23
242
0.94
0.05
1.3
1.3
39.18
35.73
iu/ml
—
5
73
109
1080
1.05
0.03
7.7
4.8
4.38
4.65
mmol/l
1.79
104
1003
19
191
0.99
0.00
2.6
3.5
0.90
0.78
ug/l
0.21
12
133
22
215
1.03
0.00
1.2
1.3
1.16
7.99
u/ml
—
10
77
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
0.78
—
0
5
0
5
0.00
-0.00
0.0
2.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.2
—
10.42
—
0
5
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
3.0
—
34.33
—
0
6
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
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.2
—
4.81
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
26.19
—
0
7
0
5
0.00
-0.00
0.0
2.8
—
34.60
—
0
5
0
7
0.00
-0.00
0.0
1.3
—
1.35
—
0
7
0
6
0.00
-0.00
0.0
1.0
—
8.83
—
0
6
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.4
—
—
—
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
Loading data