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)
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. |
168 |
4. Check minimum number of eventsNone |
168 |
5. Include endpointsNone |
168 |
6. Filter based on genotype QC (FinnGen only) |
168 |
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
Similar endpoints
↥List of similar endpoints to
Vitamin A deficiency
based on the number of shared cases.
Similar with more cases:
- Vitamin deficiency
- Vitamin deficiency, wide
- Other nutritional deficiencies
- Endocrine, nutritional and metabolic diseases
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
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 | 168 | 111 | 57 |
| Unadjusted period prevalence (%) | 0.03 | 0.04 | 0.03 |
| Median age at first event (years) | 52.04 | 43.46 | 68.75 |
-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
- 150
- Matched controls
- 1498
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E50.9
ICD-10 Finland
Vitamin A deficiency, unspecified
+∞
88.5
76
*
E50.0
ICD-10 Finland
Vitamin A deficiency with conjunctival xerosis
+∞
32.5
30
*
E05.0
ICD-10 Finland
Thyrotoxicosis with diffuse goitre
22.6
19.5
28
15
D50.9
ICD-10 Finland
Iron deficiency anaemia, unspecified
9.7
18.4
39
52
H03BB01
ATC
carbimazole; oral
12.3
16.9
31
31
E05.9
ICD-10 Finland
Thyrotoxicosis, unspecified
16.7
14.6
23
16
H03AA01
ATC
levothyroxine sodium; systemic
3.7
11.2
61
235
D50.0
ICD-10 Finland
Iron deficiency anaemia secondary to blood loss (chronic)
11.9
11.2
20
19
D64.9
ICD-10 Finland
Anaemia, unspecified
5.0
10.6
36
89
H06.2*E05.9
ICD-10 Finland
Dysthyroid exophthalmos
117.8
10.6
11
*
A10AB05
ATC
insulin aspart; parenteral (insulins and analog. for injection, fast-acting)
7.1
10.2
25
41
E66.8
ICD-10 Finland
Other obesity
58.9
9.8
11
*
E11.7
ICD-10 Finland
Type 2 diabetes mellitus, with multiple complications
7.6
9.6
22
33
E66.01
ICD-10 Finland
Obesity due to excess calories
23.5
9.5
13
6
E50.7
ICD-10 Finland
Other ocular manifestations of vitamin A deficiency
+∞
9.5
9
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
3.1
8.5
58
256
I50.9
ICD-10 Finland
Heart failure, unspecified
3.6
8.3
41
143
A10AC01
ATC
insulin (human); parenteral (insulins and analog. for injection, intermediate-acting)
5.3
8.0
24
52
E89.01
ICD-10 Finland
Postsurgical hypothyroidism
47.5
7.8
9
*
E03.9
ICD-10 Finland
Hypothyroidism, unspecified
4.1
7.6
30
86
T89
ICPC
Diabetes insulin dependent
9.5
7.2
14
16
E66.00
ICD-10 Finland
Metabolic syndrome
14.7
7.0
11
8
103
Kela drug reimbursment
Diabetes, insulin-treated
2.9
6.9
49
217
E89.00
ICD-10 Finland
Postirradiation hypothyroidism
42.0
6.8
8
*
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
2.6
6.7
64
335
A10AE04
ATC
insulin glargine; parenteral
4.4
6.5
23
59
26000
ICD-8 Finland
Vitamin A deficiency, Night blindness
+∞
6.3
6
*
E10.9
ICD-10 Finland
Type 1 diabetes mellitus, Without complications
6.9
6.0
14
22
104
Kela drug reimbursment
Thyroid insufficiency
4.2
6.0
22
59
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]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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