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Familial erythrocytosis

DOID EFO Endpoint Browser PheWeb

D3_FAMIERYTHROCYTOCIS

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 — D75.0
  • Hospital discharge: ICD-9 — 2896
  • Cause of death: ICD-10 — D75.0
  • Cause of death: ICD-9 — 2896

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

180

4. Check minimum number of events

None

180

5. Include endpoints

None

180

6. Filter based on genotype QC (FinnGen only)

180

Control definitions (FinnGen only)

Control exclude
D3_BLOODOTHER

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
D75
Name in latin
Erythrocytosis familialis

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 1157 448 700
Only index persons 1033 383 650
Unadjusted period prevalence (%)
Whole population 0.02 0.01 0.02
Only index persons 0.02 0.01 0.02
Median age at first event (years)
Whole population 56.72 59.64 54.64
Only index persons 55.02 57.68 53.46

-FinnGen-

Key figures

All Female Male
Number of individuals 180 70 110
Unadjusted period prevalence (%) 0.04 0.02 0.05
Median age at first event (years) 56.29 56.48 56.18

-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
167
Matched controls
1669
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D75.0
ICD-10 Finland
Familial erythrocytosis
4503599627370496.0
236.0
166
*
D75.1
ICD-10 Finland
Secondary polycythaemia
+∞
41.4
38
*
D45
ICD-10 Finland
Polycythaemia vera
134.7
39.8
41
*
L01XX05
ATC
hydroxycarbamide; oral
173.9
28.6
29
*
XW000
NOMESCO Finland
Bone marrow biopsy
18.6
23.9
37
25
D75.2
ICD-10 Finland
Essential thrombocytosis
+∞
18.0
17
*
D75.9
ICD-10 Finland
Disease of blood and blood-forming organs, unspecified
+∞
18.0
17
*
117
Kela drug reimbursment
Leukaemia and other malignant diseases of the blood and bone marrow, and malignant diseases of the lymphatic tissue
18.7
17.7
27
17
TPH00
NOMESCO Finland
Phlebotomy
151.6
13.7
14
*
9950/3-C42.1
ICD-O-3
Polycythemia vera of bone marrow
+∞
11.6
11
*
D47.3
ICD-10 Finland
Essential (haemorrhagic) thrombocythaemia
35.2
8.2
10
*
D47.1
ICD-10 Finland
Chronic myeloproliferative disease
+∞
7.3
7
*
215
Kela drug reimbursment
Diabetes, non-insulin-treated
2.8
7.1
54
246
SPAT1074
SPAT
Venesection
72.4
6.5
7
*

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
121
639
3.73
15.85
8.1
6.0
8.1
8.7
%
1.52
114
608
120
635
3.67
15.57
8.0
5.7
2.6
2.8
%
0.61
113
600
120
644
3.59
15.03
8.1
5.7
57.3
57.7
%
0.12
114
613
121
654
3.59
14.96
9.0
5.9
28.6
27.2
%
0.58
116
618
117
621
3.53
14.86
7.8
5.6
0.8
0.7
%
0.89
111
585
122
675
3.51
14.27
7.3
5.7
0.1
0.0
e9/l
1.31
111
585
122
694
3.35
13.24
7.9
5.8
0.2
0.2
e9/l
0.43
114
611
119
674
3.26
12.88
7.5
5.7
0.6
0.6
e9/l
0.87
108
580
121
693
3.28
12.83
7.7
5.7
2.1
1.8
e9/l
1.19
114
609
91
453
3.04
12.18
7.9
5.1
—
—
—
0
0
51
193
3.29
10.78
2.2
2.1
2.7
2.3
g/l
5.18
46
176
125
787
2.93
10.16
10.3
9.1
4.7
4.1
e9/l
1.16
114
677
48
185
3.17
9.77
2.5
2.1
23.6
23.7
%
0.02
40
161
64
297
2.79
9.28
5.8
5.4
—
—
—
0
0
38
148
2.99
7.46
1.6
2.4
2.0
1.6
%
1.99
33
132
70
403
2.21
5.93
3.6
4.0
5.5
10.3
mg/mmol
0.99
50
254
29
110
2.95
5.92
1.9
2.4
90.2
65.7
e9/l
3.20
22
86
9
7
13.44
5.64
1.1
1.3
—
—
—
0
0
32
144
2.49
4.69
1.3
1.2
—
—
—
0
0
90
610
1.95
4.63
8.6
9.4
0.0
0.0
e9/l
0.08
71
494
67
414
1.98
4.48
2.8
3.0
8.6
7.9
mmol/l
0.55
60
350
62
377
1.98
4.32
2.7
3.2
35.3
64.0
mg/l
0.97
44
247
26
112
2.54
4.16
4.8
4.9
0.1
0.2
%
0.64
13
34
27
121
2.45
3.98
4.8
4.8
0.9
1.1
%
0.14
14
39
54
334
1.88
3.48
6.7
7.3
—
—
—
0
0
35
200
1.93
2.82
2.1
2.0
—
—
—
0
0
71
504
1.67
2.77
1.9
1.9
99.8
95.4
pmol/l
0.26
41
247
22
106
2.23
2.77
3.9
5.1
0.1
0.3
%
—
9
26
71
505
1.67
2.75
2.1
1.9
—
—
—
0
0
76
553
1.65
2.68
14.0
6.6
1.3
1.2
inr
0.38
13
163
10
33
3.15
2.57
3.9
3.2
7.6
7.9
mmol/l
—
10
33
58
398
1.67
2.54
4.5
4.0
—
—
—
0
0
21
104
2.15
2.48
4.6
5.0
1.5
0.4
%
—
10
20
17
78
2.30
2.40
3.6
2.9
150.9
129.2
g/l
2.03
17
78
5
8
6.39
2.38
1.0
1.1
—
—
—
0
0
10
35
2.97
2.34
3.9
3.1
2.3
1.5
mmol/l
—
10
35
8
23
3.59
2.30
3.1
2.5
—
—
—
0
0
6
13
4.73
2.29
3.7
3.1
—
—
—
0
0
23
123
2.00
2.24
3.3
2.0
321.6
373.8
nmol/l
0.77
23
112
100
803
1.55
2.20
5.9
4.3
6.9
6.8
mmol/l
0.27
90
749
15
68
2.32
2.18
4.2
4.2
—
—
—
0
0
26
148
1.88
2.12
1.3
1.4
—
—
—
0
0
5
10
5.11
2.08
1.2
1.0
—
—
—
0
0
14
63
2.33
2.07
3.4
3.0
24.7
25.0
mmol/l
0.14
14
63
11
44
2.60
2.05
4.8
5.1
—
—
—
0
0
40
265
1.65
1.97
2.5
2.9
636.4
545.8
mosm/kgh2o
1.36
31
230
9
33
2.82
1.96
1.2
1.2
—
—
—
0
0
29
177
1.76
1.91
8.7
6.8
103.4
103.8
mmol/l
0.11
29
172
5
12
4.25
1.83
1.2
1.2
—
—
—
0
0
5
12
4.25
1.83
2.6
1.6
—
—
—
0
0
137
1208
1.56
1.77
5.2
4.4
1.8
1.9
mu/l
0.63
129
1097
16
82
2.04
1.76
2.7
2.6
—
—
—
0
0
5
13
3.92
1.72
1.2
1.2
—
—
nmol/l
—
0
0
50
362
1.53
1.69
3.0
3.0
—
—
—
0
0
23
137
1.78
1.65
3.7
2.1
12.7
15.0
nmol/l
1.01
23
128
8
32
2.57
1.61
1.3
1.1
—
—
—
0
0
15
78
2.01
1.59
10.9
7.7
25.2
24.6
mmol/l
0.59
15
72
6
20
3.07
1.59
8.8
2.3
1.8
2.4
%
—
6
15
55
413
1.48
1.56
3.2
3.0
105.4
195.9
e6/l
0.22
46
314
7
27
2.66
1.53
2.4
2.6
4.3
5.0
e9/l
—
7
27
7
27
2.66
1.53
2.4
3.3
60.6
59.0
%
—
7
27
78
629
1.42
1.51
5.8
4.8
0.0
0.0
estimate
0.00
11
123
55
416
1.46
1.50
4.7
2.2
—
—
—
0
0
56
427
1.45
1.46
2.1
2.3
47.6
54.5
u/l
1.53
49
394
5
16
3.18
1.45
1.0
1.4
—
—
—
0
0
78
635
1.40
1.41
3.8
3.6
0.0
0.0
estimate
0.00
11
116
21
128
1.73
1.41
4.3
3.4
—
—
—
0
0
49
371
1.44
1.31
4.2
4.1
—
—
—
0
0
11
55
2.07
1.30
4.8
4.9
1.6
1.5
%
0.11
11
49
76
623
1.38
1.30
3.6
3.5
0.0
0.0
estimate
0.00
11
123
8
35
2.34
1.28
1.3
1.1
—
60.0
—
0
5
20
124
1.69
1.27
4.0
3.4
2.5
2.0
mmol/l
0.28
14
97
59
465
1.40
1.27
3.9
3.4
96.8
38.5
e6/l
0.57
46
336
38
279
1.46
1.19
1.4
1.7
1.7
1.2
mg/l
0.15
32
212
37
272
1.45
1.15
2.2
2.6
2.7
4.2
e6/l
1.42
31
239
10
51
2.02
1.13
1.5
1.8
159.3
253.3
pmol/l
—
10
46
12
66
1.88
1.12
3.0
2.7
1.3
1.4
%
0.15
12
66
37
276
1.43
1.07
3.5
3.6
—
—
—
0
0
144
1331
1.41
1.04
5.3
4.4
6.3
6.0
mmol/l
2.18
134
1220
7
34
2.10
1.04
2.0
1.3
—
—
—
0
0
150
1398
1.44
1.01
17.2
13.1
19.3
24.0
mg/l
1.17
126
1105
9
49
1.88
1.00
1.8
1.7
—
—
—
0
0
10
54
1.90
0.98
5.2
5.1
0.8
0.9
%
—
10
49
5
23
2.21
0.98
4.8
3.0
4.2
4.1
mmol/l
—
5
23
5
23
2.21
0.98
4.8
3.0
106.4
106.2
mmol/l
—
5
23
5
23
2.21
0.98
4.8
3.0
—
—
—
0
0
9
50
1.84
0.98
1.9
1.6
—
—
—
0
0
9
50
1.84
0.98
1.8
1.6
—
—
—
0
0
25
176
1.49
0.97
1.2
1.2
—
—
—
0
0
9
51
1.80
0.96
1.7
1.6
—
—
—
0
0
7
37
1.93
0.95
4.4
3.2
—
—
—
0
0
47
375
1.34
0.92
3.3
2.9
0.2
0.3
e6/l
0.75
36
276
12
71
1.74
0.91
8.5
6.5
24.3
24.9
mmol/l
0.20
12
71
17
112
1.57
0.88
10.7
7.3
—
—
—
0
0
24
173
1.45
0.84
23.0
23.9
1.7
1.2
inr
—
9
23
14
89
1.62
0.84
8.4
3.9
—
—
—
0
0
8
46
1.77
0.83
1.9
1.7
—
—
—
0
0
146
1370
1.35
0.81
5.3
4.3
1.2
1.4
mmol/l
9.02
139
1260
17
115
1.53
0.80
1.4
1.5
—
—
—
0
0
110
997
1.27
0.79
3.9
4.0
7.4
11.6
mm/h
4.21
105
915
16
229
0.67
0.77
1.4
1.9
—
—
—
0
0
9
53
1.73
0.77
3.9
4.7
—
—
—
0
0
21
151
1.44
0.75
1.1
1.2
—
—
—
0
0
65
557
1.26
0.74
4.2
4.3
1.7
2.5
ug/l
0.71
60
494
35
276
1.33
0.74
1.2
1.2
0.9
1.6
u/ml
—
9
75
7
39
1.83
0.73
1.4
1.5
—
—
—
0
0
98
882
1.24
0.72
5.1
4.1
—
—
—
0
0
11
168
0.63
0.71
1.3
1.4
—
—
—
0
0
141
1326
1.29
0.69
5.1
3.9
1.6
1.3
mmol/l
4.39
135
1219
5
27
1.88
0.69
3.2
2.0
—
—
—
0
0
10
62
1.65
0.66
5.6
3.3
—
—
—
0
0
20
147
1.41
0.65
3.1
1.7
—
—
—
0
0
104
950
1.22
0.64
3.8
3.8
—
—
—
0
0
63
547
1.23
0.63
3.6
3.7
27.8
51.0
ng/l
1.24
46
384
148
1406
1.30
0.63
6.0
4.8
2.7
2.8
mmol/l
0.59
142
1293
136
1280
1.26
0.62
21.7
13.9
43.0
40.9
%
0.92
93
947
14
98
1.46
0.58
2.2
1.4
—
—
—
0
0
39
325
1.26
0.56
2.7
2.8
0.7
0.8
ug/l
0.10
24
191
13
91
1.46
0.54
4.4
3.0
5.1
5.1
kpa
0.00
13
83
11
75
1.50
0.52
16.6
6.8
—
—
—
0
0
91
833
1.19
0.51
4.3
4.1
—
4055.2
—
0
14
43
367
1.23
0.50
3.3
2.8
—
—
—
0
0
13
176
0.72
0.49
1.5
1.6
—
—
—
0
0
43
371
1.21
0.46
1.3
1.3
—
—
—
0
0
7
50
1.42
0.45
2.3
1.1
—
—
—
0
0
21
168
1.28
0.42
4.1
5.0
1.0
1.1
mmol/l
0.06
21
156
31
261
1.23
0.42
1.5
1.3
2.2
2.4
g/l
0.45
22
157
0
16
0.00
0.41
0.0
3.3
—
41.4
—
0
5
0
16
0.00
0.41
0.0
1.3
—
—
—
0
0
0
19
0.00
0.39
0.0
2.0
—
—
—
0
0
6
43
1.41
0.35
10.2
4.0
3.9
3.9
mmol/l
—
6
38
6
43
1.41
0.35
2.2
1.2
0.2
0.2
g/l
—
6
43
10
73
1.39
0.35
1.4
1.3
—
—
—
0
0
6
45
1.34
0.34
1.8
1.2
1.2
1.2
g/l
—
6
45
43
382
1.17
0.34
4.4
3.9
7.4
7.4
ph
—
6
62
21
174
1.23
0.33
2.1
1.4
1085.7
448.6
titre
—
7
42
7
52
1.36
0.31
1.9
1.7
—
—
—
0
0
19
227
0.82
0.30
1.4
1.3
11.6
33.3
iu/ml
—
5
77
8
106
0.74
0.30
3.6
3.4
—
—
—
0
0
7
56
1.26
0.30
2.1
2.9
—
—
—
0
0
16
131
1.24
0.28
15.4
7.4
131.4
121.3
g/l
1.15
16
124
5
72
0.69
0.26
1.0
1.1
—
—
—
0
0
56
516
1.12
0.26
4.1
2.8
—
—
—
0
0
29
257
1.15
0.24
5.2
3.4
87.9
439.4
ng/l
0.50
22
196
24
210
1.16
0.23
2.0
2.8
0.8
0.8
mmol/l
0.44
24
195
18
209
0.85
0.22
1.5
1.2
9.5
8.7
u/ml
—
6
80
0
11
0.00
0.21
0.0
1.2
—
1.7
—
0
11
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.8
—
—
—
0
0
0
11
0.00
0.21
0.0
7.6
—
—
—
0
0
0
10
0.00
0.21
0.0
3.5
—
33.8
—
0
5
0
10
0.00
0.21
0.0
8.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
20.8
—
0
10
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
0.1
—
0
5
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
30
333
0.88
0.21
3.9
3.8
0.0
0.0
estimate
0.00
11
117
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
7.5
—
0.6
—
0
12
5
43
1.17
0.21
1.2
1.2
—
—
—
0
0
159
1561
1.16
0.21
29.6
19.1
30.0
30.3
pg
0.73
159
1536
40
367
1.12
0.20
3.5
3.2
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
2.8
—
—
—
0
0
26
232
1.14
0.20
2.7
3.3
2.5
2.4
mmol/l
0.04
20
206
159
1562
1.15
0.20
29.9
19.2
152.8
137.9
g/l
12.21
159
1536
159
1562
1.15
0.20
29.7
19.1
90.2
90.9
fl
0.54
159
1537
7
60
1.17
0.18
1.3
1.1
—
—
—
0
0
152
1496
1.10
0.14
21.9
15.2
81.1
79.7
umol/l
0.28
152
1496
9
109
0.82
0.13
1.4
1.5
—
—
—
0
0
14
157
0.88
0.11
1.4
1.6
—
—
—
0
0
14
127
1.11
0.08
1.8
1.5
—
—
—
0
0
9
83
1.09
0.07
1.0
1.2
—
—
—
0
0
12
132
0.90
0.07
1.8
1.4
—
—
—
0
0
10
91
1.10
0.04
1.0
1.2
—
—
—
0
0
28
270
1.04
0.03
3.1
3.7
1.0
1.0
kg/l
—
6
32
11
102
1.08
0.03
6.6
3.9
—
—
—
0
0
13
123
1.06
0.01
2.8
4.4
—
—
—
0
0
147
1463
1.03
0.01
17.8
12.1
—
—
—
0
0
11
109
1.01
0.00
1.2
1.3
—
—
—
0
0
25
252
0.99
0.00
2.0
1.7
939.6
1219.0
nmol/l
0.99
20
197
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
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
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
33.2
—
89.8
—
0
5
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
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
1.2
—
0
5
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
9
91
0.99
0.00
4.3
3.6
1.2
1.2
mmol/l
—
9
82
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
7
71
0.99
0.00
3.0
2.3
—
—
—
0
0
0
8
0.00
0.00
0.0
2.0
—
7.9
—
0
8
5
55
0.91
0.00
1.6
1.9
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
0.00
0.0
7.3
—
—
—
0
0
0
7
0.00
0.00
0.0
1.9
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
0.00
0.0
2.0
—
—
—
0
0
9
96
0.93
0.00
2.8
2.8
67.6
67.5
g/l
—
9
86

Mortality – FinRegistry

↥

Association

Association between endpoint D3_FAMIERYTHROCYTOCIS and mortality.

Females

Parameter HR [95% CI] p-value
D3_FAMIERYTHROCYTOCIS 2.131 [1.65, 2.76] < 0.001
Birth year 0.992 [0.98, 1.0] 0.091

During the follow-up period (1.1.1998 — 31.12.2019), 121 out of 403 females with D3_FAMIERYTHROCYTOCIS died.

Males

Parameter HR [95% CI] p-value
D3_FAMIERYTHROCYTOCIS 1.315 [1.05, 1.65] 0.018
Birth year 0.99 [0.98, 1.0] 0.029

During the follow-up period (1.1.1998 — 31.12.2019), 131 out of 643 males with D3_FAMIERYTHROCYTOCIS died.

Mortality risk

Mortality risk for people of age

years, who have D3_FAMIERYTHROCYTOCIS.

N-year risk Females Males
1 0.197% 0.228%
5 1.084% 1.671%
10 2.786% 4.14%
15 5.386% 7.803%
20 9.707% 13.227%

Relationships between endpoints

↥

Index endpoint: D3_FAMIERYTHROCYTOCIS – Familial erythrocytosis

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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