Lipomatosis, not elsewhere classified

E4_LIPOMATOSIS

lipomatosis: an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders.

Suggest a new description

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 E88.2#
  • Cause of death: ICD-10 E88.2#

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

98

4. Check minimum number of events

None

98

5. Include endpoints

None

98

6. Filter based on genotype QC (FinnGen only)

98

Control definitions (FinnGen only)

Control exclude
E4_METABOLIA

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E88
Name in latin
Lipomatosis non alibi classificata

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 515 278 233
Only index persons 487 269 218
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 53.98 54.63 53.59
Only index persons 54.26 54.83 53.56

-FinnGen-

Key figures

All Female Male
Number of individuals 98 59 39
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 56.26 57.23 54.81

-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
85
Matched controls
850
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E88.2
ICD-10 Finland
Lipomatosis, not elsewhere classified
+∞
120.4
85
*
D17.1
ICD-10 Finland
Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk
13.7
9.0
15
13
D17.2
ICD-10 Finland
Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs
24.9
8.2
11
5
M48.0
ICD-10 Finland
Spinal stenosis
6.6
8.1
21
40
N03AX12
ATC
gabapentin; oral
4.9
7.7
27
74
N03AX16
ATC
pregabalin; oral
4.0
7.3
33
115
D17.9
ICD-10 Finland
Benign lipomatous neoplasm, unspecified
43.6
6.9
8
*
N02AX02
ATC
tramadol; systemic, rectal
3.4
6.8
50
253
QBE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin of trunk
6.2
6.4
17
33
215
Kela drug reimbursment
Diabetes, non-insulin-treated
3.8
6.2
29
102
R5140
NOMESCO Finland
Monitoring the use of the aid
5.1
6.1
19
45

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
45
211
3.09
6.90
3.9
2.9
90.8
335.5
mg/l
0.36
32
133
45
219
2.95
6.36
3.9
2.8
7.7
7.7
mmol/l
0.00
39
185
67
412
2.98
6.01
8.0
5.2
0.2
0.2
e9/l
0.80
55
373
45
226
2.83
5.91
4.6
3.6
15.0
5.3
mg/mmol
0.38
34
141
48
250
2.80
5.88
7.1
4.9
—
—
—
0
0
65
400
2.86
5.70
7.5
5.1
0.6
0.5
e9/l
1.52
51
352
65
402
2.83
5.61
7.5
5.1
0.0
0.0
e9/l
1.09
51
355
36
168
2.81
5.34
1.9
1.6
1.0
0.9
mg/l
0.12
30
126
65
412
2.72
5.19
7.6
5.1
1.9
1.8
e9/l
0.25
52
373
12
30
4.42
4.58
5.4
2.0
—
—
—
0
0
75
537
2.69
4.26
6.9
3.8
—
—
—
0
0
22
88
2.93
4.24
2.3
1.4
—
—
—
0
0
67
464
2.40
3.95
11.2
9.8
4.7
3.8
e9/l
2.44
56
413
45
265
2.29
3.87
11.9
6.1
1.1
1.2
inr
0.08
11
87
8
12
7.14
3.75
1.1
5.3
—
—
—
0
0
62
421
2.29
3.75
8.1
5.7
9.0
11.0
umol/l
2.36
62
398
34
181
2.35
3.67
6.3
3.9
—
—
—
0
0
79
599
2.64
3.66
5.4
3.8
14.3
14.8
pmol/l
1.01
71
543
35
189
2.33
3.65
8.2
6.1
—
—
—
0
0
38
215
2.25
3.54
5.1
2.4
—
—
—
0
0
51
335
2.09
3.18
1.8
2.1
—
—
—
0
0
45
282
2.10
3.18
2.3
1.7
98.6
100.5
pmol/l
0.10
25
135
30
161
2.24
3.12
1.1
1.2
16.9
35.0
iu/ml
—
6
46
13
47
3.04
2.95
17.5
5.6
—
—
—
0
0
92
797
3.52
2.94
6.0
4.3
6.3
5.9
mmol/l
1.82
87
741
6
9
7.01
2.91
5.0
2.9
—
—
—
0
0
25
130
2.24
2.78
5.3
2.4
564.1
557.7
mosm/kgh2o
0.05
20
105
10
32
3.37
2.73
10.3
5.6
24.6
25.3
mmol/l
—
10
32
36
220
2.01
2.63
4.1
3.3
7.4
7.4
ph
—
8
50
13
51
2.79
2.56
8.3
3.3
—
—
—
0
0
12
45
2.90
2.56
1.4
1.5
—
—
—
0
0
12
45
2.90
2.56
1.1
1.1
—
—
—
0
0
27
153
2.06
2.40
4.6
2.5
5.8
4.8
e6/l
0.38
22
136
5
8
6.51
2.40
12.0
4.3
—
—
—
0
0
20
103
2.18
2.25
1.2
1.3
—
—
—
0
0
32
199
1.90
2.17
7.6
2.7
0.3
0.5
e6/l
0.29
26
146
71
571
1.88
2.06
4.6
3.6
—
—
—
0
0
14
65
2.35
1.99
1.9
1.4
—
—
—
0
0
41
283
1.77
1.97
3.7
3.2
93.9
30.3
ng/l
0.42
31
184
52
385
1.75
1.96
5.6
3.3
0.0
0.0
estimate
0.00
11
83
33
214
1.82
1.95
3.1
2.0
—
—
—
0
0
7
22
3.34
1.92
1.9
1.5
—
—
—
0
0
31
200
1.80
1.85
6.9
2.6
—
—
—
0
0
7
24
3.06
1.76
1.4
1.5
0.3
0.2
g/l
—
7
24
15
76
2.15
1.75
1.9
1.5
—
—
—
0
0
23
137
1.89
1.75
1.8
1.6
1163.2
1272.1
nmol/l
0.23
17
103
10
42
2.54
1.74
1.2
1.4
—
—
—
0
0
52
394
1.68
1.73
5.7
3.3
0.0
0.0
estimate
0.00
11
80
33
221
1.74
1.73
1.7
1.7
2.1
1.3
mmol/l
1.71
27
179
26
162
1.82
1.72
6.0
3.4
—
—
—
0
0
15
77
2.12
1.70
9.7
6.1
2.3
1.6
mmol/l
—
10
67
49
367
1.67
1.70
13.1
8.9
0.0
0.0
e9/l
0.45
39
299
7
25
2.93
1.68
1.4
1.5
1.3
1.1
g/l
—
7
25
24
147
1.84
1.68
1.7
1.3
1.9
2.4
g/l
1.54
13
90
51
388
1.66
1.65
8.2
4.3
0.0
0.0
estimate
0.00
11
80
11
52
2.26
1.51
1.4
3.1
62.5
66.0
e9/l
—
6
41
15
82
1.98
1.45
1.9
1.4
—
—
—
0
0
15
83
1.95
1.40
2.0
1.7
—
—
—
0
0
13
69
2.02
1.36
7.8
3.0
—
—
—
0
0
83
735
1.84
1.36
26.0
11.4
40.0
40.5
%
0.18
62
549
16
92
1.88
1.35
2.6
1.8
29.4
29.3
s
0.02
16
87
6
24
2.59
1.32
1.5
1.8
27.2
42.9
nmol/l
—
6
24
31
221
1.59
1.24
8.0
2.9
13.9
337.4
e6/l
0.58
26
171
23
152
1.67
1.23
1.1
1.2
0.7
3.0
u/ml
—
5
59
18
111
1.76
1.23
3.1
1.7
—
—
—
0
0
23
153
1.66
1.20
1.9
1.8
371.0
461.0
pmol/l
1.35
17
135
35
262
1.52
1.12
9.2
3.4
58.9
45.5
e6/l
0.13
28
188
18
114
1.71
1.12
1.1
1.3
—
—
—
0
0
8
41
2.03
1.11
1.4
1.2
—
—
—
0
0
91
851
1.97
0.96
20.0
10.9
—
—
—
0
0
6
29
2.14
0.91
8.5
2.6
—
—
—
0
0
87
808
1.68
0.83
25.0
11.6
22.7
21.1
mg/l
0.21
82
621
0
27
0.00
0.78
0.0
5.1
—
1.1
—
0
27
6
34
1.81
0.77
18.5
6.3
—
—
—
0
0
5
25
2.05
0.74
2.8
2.8
—
—
—
0
0
5
26
1.97
0.71
1.6
2.9
8.6
10.2
mg/l
—
5
26
30
237
1.38
0.70
5.5
3.0
—
—
—
0
0
10
63
1.65
0.64
2.1
1.4
—
—
—
0
0
16
115
1.47
0.61
2.4
1.8
—
—
—
0
0
8
52
1.59
0.61
1.3
1.2
—
—
—
0
0
6
37
1.66
0.56
10.5
2.1
119.5
134.2
g/l
—
6
37
25
199
1.34
0.55
7.2
4.9
—
—
—
0
0
6
40
1.53
0.52
1.0
1.2
—
—
—
0
0
28
229
1.31
0.52
4.6
3.0
—
—
—
0
0
27
223
1.29
0.46
5.5
3.7
0.0
0.0
estimate
—
10
79
7
50
1.43
0.46
1.6
1.3
—
—
—
0
0
5
31
1.64
0.43
1.8
1.7
26.2
24.7
mmol/l
—
5
31
8
58
1.41
0.43
4.0
3.3
—
—
—
0
0
5
33
1.54
0.42
12.2
1.7
1.1
1.8
%
—
5
33
9
66
1.40
0.40
4.7
4.2
1.2
1.2
mmol/l
—
9
59
9
69
1.33
0.38
1.2
1.3
—
—
—
0
0
10
73
1.41
0.36
5.7
3.7
—
—
—
0
0
6
88
0.66
0.34
2.0
1.4
—
—
—
0
0
10
75
1.37
0.31
1.7
1.4
—
—
—
0
0
11
87
1.30
0.25
1.2
1.2
—
—
—
0
0
5
37
1.37
0.24
23.6
5.3
93.2
92.9
%
—
5
37
5
38
1.33
0.23
23.6
5.1
0.5
0.7
%
—
5
38
5
39
1.30
0.23
23.6
5.1
1.4
1.8
%
—
5
39
5
42
1.20
0.22
3.0
2.5
—
—
—
0
0
23
203
1.17
0.21
1.4
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
2.2
—
3.1
—
0
12
6
49
1.24
0.20
1.8
3.7
—
—
—
0
0
7
58
1.22
0.18
4.6
2.2
—
—
—
0
0
5
63
0.78
0.08
1.4
1.3
—
—
—
0
0
32
309
1.05
0.04
3.3
2.6
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
0.00
0.0
5.3
—
0.6
—
0
8
0
6
0.00
0.00
0.0
1.7
—
1.7
—
0
6
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
4.0
—
0
7
0
6
0.00
0.00
0.0
12.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
136.6
—
0
5
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
26.1
—
0
6
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
12.7
—
—
—
0
0
0
7
0.00
0.00
0.0
1.3
—
198.0
—
0
7
68
680
1.00
0.00
33.6
14.1
14.0
13.7
%
0.48
68
671
0
7
0.00
0.00
0.0
1.0
—
107.0
—
0
7
0
5
0.00
0.00
0.0
1.2
—
7.3
—
0
5

Mortality – FinRegistry

Association

Association between endpoint E4_LIPOMATOSIS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_LIPOMATOSIS.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

Index endpoint: E4_LIPOMATOSIS – Lipomatosis, not elsewhere classified

GWS hits: -

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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