Vitamin A deficiency

E4_VIT_A_DEF

ascorbic acid deficiency: A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into scurvy in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)

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Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

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

Registry filters:

  • Hospital discharge: ICD-10 E50
  • Hospital discharge: ICD-9 264
  • Hospital discharge: ICD-8 260
  • Cause of death: ICD-10 E50
  • Cause of death: ICD-9 264
  • Cause of death: ICD-8 260

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

184

4. Check minimum number of events

None

184

5. Include endpoints

None

184

6. Filter based on genotype QC (FinnGen only)

164

Control definitions (FinnGen only)

Control exclude
E4_NUTRIDEF

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E50-E64
Name in latin
Deficientia vitamini A

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 1746 1131 591
Only index persons 1302 892 410
Unadjusted period prevalence (%)
Whole population 0.03 0.03 0.02
Only index persons 0.03 0.03 0.02
Median age at first event (years)
Whole population 65.53 63.81 68.82
Only index persons 58.80 56.29 64.25

-FinnGen-

Key figures

All Female Male
Number of individuals 164 108 56
Unadjusted period prevalence (%) 0.03 0.04 0.03
Median age at first event (years) 52.26 43.60 68.97

-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
170
Matched controls
1700
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E50.9
ICD-10 Finland
Vitamin A deficiency, unspecified
+∞
98.9
85
*
E50.0
ICD-10 Finland
Vitamin A deficiency with conjunctival xerosis
+∞
36.8
34
*
D50.9
ICD-10 Finland
Iron deficiency anaemia, unspecified
8.6
30.2
45
68
H03BB01
ATC
carbimazole; oral
11.5
28.9
33
35
E05.0
ICD-10 Finland
Thyrotoxicosis with diffuse goitre
15.6
18.3
30
23
D64.9
ICD-10 Finland
Anaemia, unspecified
5.2
17.7
43
103
H03AA01
ATC
levothyroxine sodium; systemic
3.9
15.7
66
239
E05.9
ICD-10 Finland
Thyrotoxicosis, unspecified
13.7
14.6
25
21
E50.7
ICD-10 Finland
Other ocular manifestations of vitamin A deficiency
+∞
13.7
13
*
D50.0
ICD-10 Finland
Iron deficiency anaemia secondary to blood loss (chronic)
11.4
13.0
24
24
E03.9
ICD-10 Finland
Hypothyroidism, unspecified
3.9
11.9
41
127
E11.7
ICD-10 Finland
Type 2 diabetes mellitus, with multiple complications
5.6
11.4
23
46
E66.8
ICD-10 Finland
Other obesity
46.6
11.1
13
*
A10AB05
ATC
insulin aspart; parenteral
4.6
11.0
29
73
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
3.0
10.6
69
315
H06.2*E05.9
ICD-10 Finland
Dysthyroid exophthalmos
116.9
10.5
11
*
I50.9
ICD-10 Finland
Heart failure, unspecified
3.1
8.9
46
182
E66.00
ICD-10 Finland
Metabolic syndrome
12.6
8.2
14
12
E66.01
ICD-10 Finland
Obesity due to excess calories
7.2
8.2
19
29
UJF32
NOMESCO Finland
Coloscopy
2.6
7.6
57
274
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
2.8
7.4
45
194
A10AC01
ATC
insulin (human); parenteral
3.5
7.4
27
86
26000
ICD-8 Finland
Vitamin A deficiency, Night blindness
+∞
7.3
7
*
E89.00
ICD-10 Finland
Postirradiation hypothyroidism
31.5
7.2
9
*
104
Kela drug reimbursment
Thyroid insufficiency
3.6
6.9
24
74
SPAT1262
SPAT
Handing over of treatment supplies
2.9
6.8
36
143
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
2.3
6.5
74
425
Z71.3
ICD-10 Finland
Dietary counselling and surveillance
6.4
6.5
16
27
RD210, ,
NOMESCO Finland
18.9
6.3
9
5
E66.9
ICD-10 Finland
Obesity, unspecified
18.9
6.3
9
5
A10AE04
ATC
insulin glargine; parenteral
3.3
6.3
26
89
E50.1
ICD-10 Finland
Vitamin A deficiency with Bitot spot and conjunctival xerosis
+∞
6.3
6
*
R50.9
ICD-10 Finland
Fever, unspecified
2.7
6.2
37
157

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
71
363
2.64
8.48
4.0
2.0
3.33
2.82
mg/l
1.01
66
319
39
153
3.01
7.61
2.8
2.7
2.09
1.67
%
1.56
34
137
30
115
2.95
6.04
2.4
2.8
75.43
64.86
e9/l
1.00
23
87
66
371
2.27
6.02
5.5
4.1
—
—
—
0
0
90
598
2.07
5.16
4.8
4.5
34.35
35.77
g/l
1.65
85
567
92
617
2.07
5.14
22.3
14.1
1.32
1.25
inr
0.52
77
521
15
43
3.73
4.73
2.1
2.1
15.20
5.01
iu/l
—
7
20
19
65
3.17
4.61
3.4
4.3
—
—
—
0
0
50
276
2.15
4.60
2.0
1.7
408.27
462.62
pmol/l
0.95
41
226
100
714
1.97
4.45
9.0
6.1
1.86
1.86
e9/l
0.02
93
637
44
234
2.19
4.42
2.0
1.7
1034.74
1169.77
nmol/l
0.42
36
178
24
98
2.69
4.28
8.6
4.6
0.80
0.64
%
—
10
28
25
106
2.59
4.14
9.3
4.6
2.05
0.47
%
1.15
11
34
98
707
1.91
4.11
9.0
6.1
0.04
0.04
e9/l
0.43
90
615
97
703
1.88
3.95
9.1
6.1
0.63
0.57
e9/l
1.15
88
611
78
533
1.86
3.78
10.4
4.0
51.74
141.17
ng/l
0.38
56
367
33
166
2.23
3.77
4.1
3.1
4.58
3.96
e9/l
0.66
28
147
23
99
2.53
3.69
10.0
4.8
0.11
0.07
%
—
9
27
15
51
3.13
3.68
2.8
4.5
—
—
—
0
0
69
463
1.83
3.48
7.3
6.1
—
—
—
0
0
98
731
1.80
3.47
9.3
6.6
0.20
0.18
e9/l
0.51
92
644
24
109
2.40
3.45
4.2
5.0
7.38
7.33
ph
1.03
19
75
23
104
2.40
3.34
10.4
5.2
0.75
0.33
%
—
8
27
91
672
1.76
3.27
10.3
6.4
1.22
1.21
mmol/l
0.39
74
572
102
780
1.77
3.23
10.8
9.9
4.76
4.08
e9/l
1.34
94
682
29
152
2.09
2.98
2.8
1.6
—
—
—
0
0
29
154
2.06
2.88
1.7
1.4
—
—
—
0
0
83
618
1.67
2.74
8.6
5.4
1.23
1.22
mmol/l
0.55
72
574
94
727
1.66
2.65
8.2
6.1
10.02
10.74
umol/l
0.38
88
699
30
169
1.94
2.53
1.7
1.5
—
—
—
0
0
21
104
2.16
2.49
1.9
3.4
66.15
77.44
ng/l
0.45
13
94
5
8
6.40
2.39
1.0
1.1
—
—
—
0
0
84
644
1.60
2.37
4.4
2.6
—
—
estimate
—
0
0
80
613
1.58
2.22
2.6
2.1
114.87
94.59
pmol/l
2.48
55
323
7
19
3.79
2.17
2.0
1.8
1.21
0.80
%
—
7
10
20
104
2.05
2.11
20.0
2.4
4.68
8.32
ug/l
0.51
14
91
12
51
2.46
2.00
1.7
1.4
—
2.67
—
0
8
5
11
4.65
1.95
1.0
1.3
—
—
—
0
0
58
426
1.55
1.88
2.1
1.7
16.29
21.92
nmol/l
2.55
52
356
9
35
2.66
1.83
1.4
1.1
—
—
—
0
0
60
449
1.52
1.77
4.9
3.1
—
—
—
0
0
6
18
3.42
1.76
2.2
1.8
26.67
31.78
pg
—
6
18
66
506
1.50
1.73
3.2
3.1
2.29
2.36
mmol/l
3.65
59
456
16
85
1.97
1.61
1.3
1.2
—
—
—
0
0
120
1046
1.50
1.60
9.1
4.4
15.52
14.70
pmol/l
2.60
111
943
44
314
1.54
1.60
2.0
1.8
1.02
1.48
mg/l
0.76
36
255
5
15
3.40
1.53
1.4
1.1
—
—
—
0
0
6
22
2.79
1.44
1.3
1.3
—
—
—
0
0
22
135
1.72
1.44
14.3
6.3
7.42
7.42
ph
0.02
15
83
58
448
1.45
1.43
4.5
2.2
—
—
—
0
0
10
46
2.25
1.43
1.3
1.4
—
—
—
0
0
45
331
1.49
1.42
2.0
2.9
361.08
329.95
umol/l
0.88
39
286
28
186
1.61
1.38
1.4
1.3
—
—
—
0
0
20
122
1.72
1.34
5.9
3.2
7.37
7.39
ph
0.56
12
84
14
76
1.92
1.34
18.5
6.8
25.69
24.64
mmol/l
0.30
14
76
6
24
2.55
1.31
4.5
3.0
5.27
4.61
e9/l
—
6
24
8
34
2.42
1.31
1.1
1.3
—
—
—
0
0
5
18
2.83
1.29
1.4
1.3
—
—
—
0
0
29
198
1.56
1.28
1.4
1.4
306.67
610.77
titre
—
6
52
19
116
1.72
1.28
5.3
2.5
8.22
10.32
g/l
2.12
19
106
42
311
1.47
1.27
8.7
4.3
—
—
—
0
0
30
207
1.55
1.26
2.2
2.2
100.68
135.22
ug/g
0.50
25
165
28
192
1.55
1.21
3.1
1.8
—
—
—
0
0
53
414
1.41
1.21
4.4
3.4
0.00
0.00
estimate
-0.00
14
118
6
26
2.35
1.19
1.7
1.3
8.22
5.97
pmol/l
—
6
26
5
20
2.54
1.16
1.0
1.0
—
—
—
0
0
12
67
1.85
1.07
2.6
2.3
—
—
—
0
0
52
413
1.37
1.07
4.8
3.3
54.43
56.30
mg/l
0.03
34
276
5
23
2.21
0.98
1.2
1.0
—
—
—
0
0
52
419
1.35
0.97
5.9
3.9
9.31
9.80
mg/mmol
0.05
34
270
43
340
1.35
0.90
2.1
1.4
1.91
2.54
g/l
1.21
28
201
8
44
1.86
0.87
1.3
1.2
—
—
—
0
0
54
445
1.31
0.86
4.3
3.6
7.39
7.40
ph
0.93
43
325
8
45
1.82
0.85
6.4
2.4
7.41
7.42
ph
—
8
45
47
381
1.32
0.84
1.5
1.2
0.48
1.48
u/ml
—
10
111
34
262
1.37
0.83
8.0
3.4
27.44
231.10
ng/l
1.14
26
200
8
48
1.70
0.80
1.3
1.2
—
—
—
0
0
6
33
1.85
0.80
4.7
3.1
61.17
60.02
%
—
6
33
20
141
1.47
0.79
1.3
1.2
—
—
—
0
0
5
24
2.12
0.75
1.0
1.3
—
—
—
0
0
5
26
1.95
0.71
1.0
1.2
—
—
—
0
0
7
44
1.62
0.66
1.0
1.1
—
—
—
0
0
22
165
1.38
0.64
1.4
1.5
—
—
—
0
0
8
49
1.66
0.63
7.5
3.7
36.94
36.98
°c
—
8
49
22
166
1.37
0.62
1.3
1.3
—
—
—
0
0
47
550
0.80
0.62
2.4
2.0
1.30
1.32
mmol/l
0.05
40
464
14
97
1.48
0.61
1.3
1.5
—
—
—
0
0
140
1331
1.29
0.59
31.9
15.1
25.38
23.70
mg/l
0.16
122
1093
67
593
1.21
0.56
1.9
2.1
—
—
—
0
0
65
575
1.21
0.55
6.7
3.9
0.00
0.01
estimate
0.50
15
135
132
1251
1.25
0.54
10.4
5.3
1.79
1.89
mu/l
0.46
124
1135
6
39
1.56
0.53
1.5
1.2
6.13
12.24
u/l
—
6
32
13
92
1.45
0.52
1.5
1.2
—
—
—
0
0
17
127
1.38
0.52
1.9
1.4
—
—
—
0
0
7
46
1.54
0.49
1.3
1.2
—
98.57
—
0
7
7
48
1.48
0.47
1.1
1.2
—
—
—
0
0
7
48
1.48
0.47
1.1
1.2
—
—
—
0
0
7
51
1.39
0.44
1.1
1.2
—
—
—
0
0
16
122
1.34
0.44
6.6
3.7
—
—
—
0
0
47
533
0.84
0.44
6.8
4.0
140.58
80.34
e6/l
0.31
37
365
67
605
1.18
0.44
5.9
3.5
6.41
6.25
ph
0.50
44
342
130
1241
1.20
0.42
8.2
5.9
43.13
39.13
mmol/mol
2.55
119
1161
5
32
1.58
0.42
1.0
1.2
—
—
—
0
0
8
59
1.37
0.41
1.3
1.2
—
—
—
0
0
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
5
34
1.48
0.40
5.0
5.2
—
—
—
0
0
5
35
1.44
0.39
7.6
3.4
1.60
1.33
mmol/l
—
5
35
13
98
1.35
0.38
1.0
2.4
—
—
—
0
0
28
236
1.22
0.38
1.6
1.7
—
—
—
0
0
9
69
1.32
0.38
2.8
1.8
—
—
—
0
0
9
70
1.30
0.37
1.7
1.9
—
0.00
estimate
—
0
25
43
379
1.18
0.37
1.6
1.5
—
—
—
0
0
6
41
1.48
0.36
2.2
2.0
—
—
—
0
0
15
188
0.78
0.35
3.9
3.1
0.81
0.94
ug/l
—
10
130
14
110
1.30
0.33
6.6
3.3
—
—
—
0
0
7
52
1.36
0.31
4.3
3.0
—
—
—
0
0
7
52
1.36
0.31
1.1
1.2
—
—
—
0
0
7
53
1.33
0.31
1.1
1.2
—
—
—
0
0
14
111
1.28
0.31
21.2
5.6
1.48
1.34
mmol/l
0.17
14
111
8
66
1.22
0.27
7.6
2.3
0.52
0.63
%
—
8
66
124
1281
0.88
0.26
5.9
5.0
6.18
5.84
mmol/l
1.16
112
1164
16
133
1.22
0.25
3.3
2.4
6.55
6.18
ph
—
10
88
9
77
1.18
0.25
4.1
3.5
1.02
1.02
ratio
—
9
72
119
1230
0.89
0.24
5.0
4.1
1.42
1.22
mmol/l
1.15
109
1118
14
115
1.24
0.24
3.6
2.5
0.49
0.17
e6/l
0.46
14
110
29
257
1.15
0.24
1.3
1.3
1.29
10.63
u/ml
—
8
103
128
1317
0.89
0.23
6.2
5.6
2.44
2.67
mmol/l
2.11
117
1214
5
39
1.29
0.23
1.0
1.2
1.30
1.64
g/l
—
5
39
134
1374
0.88
0.22
22.9
13.4
—
—
—
0
0
125
1286
0.89
0.22
5.8
4.9
1.42
1.52
mmol/l
1.46
112
1185
5
42
1.20
0.21
1.0
1.3
0.71
0.86
g/l
—
5
42
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
19
217
0.86
0.20
2.9
3.1
4.60
2.69
e6/l
—
8
113
6
52
1.16
0.19
1.2
1.2
—
—
—
0
0
64
607
1.09
0.17
22.4
10.9
0.00
0.00
e9/l
0.43
58
496
8
69
1.17
0.16
6.8
2.2
1.04
1.22
%
—
8
69
31
284
1.11
0.16
2.0
2.1
—
—
—
0
0
36
333
1.10
0.16
8.3
4.0
1.01
1.02
kg/l
0.31
24
216
46
433
1.09
0.14
7.0
4.0
0.00
0.00
estimate
-0.00
18
146
12
138
0.86
0.13
1.6
1.7
—
—
—
0
0
30
278
1.10
0.13
1.4
1.3
15.72
28.97
iu/ml
—
6
90
12
104
1.17
0.12
1.3
1.2
146.20
108.99
u/ml
—
5
48
12
104
1.17
0.12
24.7
6.4
—
—
—
0
0
79
763
1.07
0.12
6.5
4.0
0.00
0.00
estimate
-0.00
17
150
41
432
0.93
0.11
4.9
6.6
—
—
—
0
0
127
1291
0.94
0.10
5.8
5.0
4.34
4.63
mmol/l
2.20
115
1200
78
758
1.05
0.09
6.6
4.0
67.00
10.09
estimate
0.39
20
161
37
389
0.94
0.09
5.5
3.1
—
—
estimate
—
0
0
7
64
1.10
0.08
2.0
2.0
—
—
—
0
0
6
70
0.85
0.08
1.2
1.1
—
—
—
0
0
77
752
1.04
0.07
6.6
4.0
0.00
0.00
estimate
-0.00
19
160
12
111
1.09
0.04
1.8
1.3
—
—
—
0
0
39
400
0.97
0.03
5.7
3.2
0.11
0.33
e6/l
1.81
30
285
52
511
1.03
0.02
3.5
3.1
—
—
—
0
0
16
153
1.05
0.01
1.4
1.5
—
—
—
0
0
47
466
1.01
0.00
5.6
3.3
16.89
47.07
e6/l
1.22
38
356
11
113
0.97
0.00
1.3
1.5
—
—
—
0
0
140
1403
0.99
0.00
16.7
11.6
24.19
24.43
u/l
0.09
134
1362
0
6
0.00
0.00
0.0
3.2
—
5.63
—
0
6
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.6
—
—
—
0
0
0
8
0.00
0.00
0.0
1.5
—
0.00
—
0
8
0
7
0.00
-0.00
0.0
1.0
—
1876.29
—
0
7
7
70
1.00
-0.00
6.7
2.8
22.13
24.41
mmol/l
—
7
70
8
88
0.90
-0.00
37.4
4.9
23.81
24.64
mmol/l
—
8
88
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
17
170
1.00
-0.00
1.6
2.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
2.1
—
0.89
—
0
9
0
7
0.00
-0.00
0.0
3.7
—
0.61
—
0
7
6
62
0.97
-0.00
1.3
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
51.0
—
104.20
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint E4_VIT_A_DEF and mortality.

Females

Parameter HR [95% CI] p-value
E4_VIT_A_DEF 2.193 [1.78, 2.7] < 0.001
Birth year 0.994 [0.99, 1.0] 0.182

During the follow-up period (1.1.1998 — 31.12.2019), 420 out of 942 females with E4_VIT_A_DEF died.

Males

Parameter HR [95% CI] p-value
E4_VIT_A_DEF 2.936 [2.06, 4.18] < 0.001
Birth year 0.986 [0.98, 1.0] 0.004

During the follow-up period (1.1.1998 — 31.12.2019), 282 out of 450 males with E4_VIT_A_DEF died.

Mortality risk

Mortality risk for people of age

years, who have E4_VIT_A_DEF.

N-year risk Females Males
1 0.208% 0.662%
5 1.253% 3.621%
10 2.98% 7.887%
15 5.729% 14.718%
20 10.213% 23.711%

Relationships between endpoints

Index endpoint: E4_VIT_A_DEF – Vitamin A deficiency

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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