No definition available.
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. |
110 |
4. Check minimum number of eventsNone |
110 |
5. Include endpoints |
115 |
6. Filter based on genotype QC (FinnGen only) |
115 |
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 acidorum aminoicorum aromaticorum
Similar endpoints
↥List of similar endpoints to
Disorders of aromatic amino-acid metabolism
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
- Any prescribed medicine buy
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1159 | 532 | 616 |
| Only index persons | 866 | 389 | 477 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.02 | 0.02 |
| Only index persons | 0.02 | 0.01 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 58.64 | 60.78 | 56.81 |
| Only index persons | 56.65 | 56.92 | 56.42 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 115 | 52 | 63 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.03 |
| Median age at first event (years) | 53.35 | 45.54 | 59.80 |
-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
- 108
- Matched controls
- 1079
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E70.2
ICD-10 Finland
Disorders of tyrosine metabolism
+∞
42.5
38
*
E70.3
ICD-10 Finland
Albinism
+∞
23.8
22
*
E70.0
ICD-10 Finland
Classical phenylketonuria
+∞
21.6
20
*
I70.2
ICD-10 Finland
Atherosclerosis of arteries of extremities
12.4
20.0
38
45
I70.9
ICD-10 Finland
Generalized and unspecified atherosclerosis
73.1
11.9
13
*
E70.8
ICD-10 Finland
Other disorders of aromatic amino-acid metabolism
+∞
11.7
11
*
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
8.8
10.7
23
32
E70.9
ICD-10 Finland
Disorder of aromatic amino-acid metabolism, unspecified
+∞
10.6
10
*
Z31.5
ICD-10 Finland
Genetic counselling
13.2
10.0
17
15
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
17.6
9.3
14
9
E11.9
ICD-10 Finland
Type 2 diabetes mellitus, without complications
4.5
9.2
37
113
PE1AT
NOMESCO Finland
Femoral artery PTA
54.5
8.8
10
*
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
18.2
8.8
13
8
103
Kela drug reimbursment
Diabetes, insulin-treated
3.9
8.7
41
145
WX408
NOMESCO Finland
General anesthesy, balanced
3.9
8.6
43
158
I25.9
ICD-10 Finland
Chronic ischaemic heart disease, unspecified
5.7
8.5
25
54
E70.1
ICD-10 Finland
Other hyperphenylalaninaemias
+∞
8.4
8
*
E11.7
ICD-10 Finland
Type 2 diabetes mellitus, with multiple complications
10.2
8.4
16
18
B01AC04
ATC
clopidogrel; oral
5.2
8.2
26
62
PD4BC
NOMESCO Finland
Extensive arterigography of lower extremity with X-ray
17.3
7.4
11
7
H55
ICD-10 Finland
Nystagmus and other irregular eye movements
+∞
7.4
7
*
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
+∞
7.4
7
*
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
6.7
7.3
18
31
PD4DE
NOMESCO Finland
Lower extremity artery ultrasound examination with Doppler method
21.8
7.3
10
5
N08.39*E11.2
ICD-10 Finland
Non-insulin-dependent diabetes mellitus - Diabetic nephropathy
21.8
7.3
10
5
A10AC01
ATC
insulin (human); parenteral (insulins and analog. for injection, intermediate-acting)
5.7
7.1
20
41
E11.5
ICD-10 Finland
Type 2 diabetes mellitus, with peripheral circulatory complications
15.1
7.1
11
8
L97
ICD-10 Finland
Ulcer of lower limb, not elsewhere classified
10.4
7.0
13
14
TPH04
NOMESCO Finland
Cathetrisation of vein
3.6
6.9
34
122
QDB10
NOMESCO Finland
Major dressing of wound of skin of lower limb
8.8
6.9
14
18
I25.1
ICD-10 Finland
Atherosclerotic heart disease
3.5
6.7
35
129
E11.00
ICD-10 Finland
Non-insulin dependent diabetes diabetic hypoglycaemic coma
11.1
6.7
12
12
PE1BT
NOMESCO Finland
Femoral artery extensive PTA
74.0
6.5
7
*
C03CA01
ATC
furosemide; systemic
3.1
6.5
43
190
A11CC03
ATC
alfacalcidol; systemic
12.1
6.5
11
10
A10AE04
ATC
insulin glargine; parenteral
5.6
6.4
18
37
N08.39*E10.2
ICD-10 Finland
Insulin-dependent diabetes mellitus - Diabetic nephropathy
28.5
6.3
8
*
X57
ICD-10 Finland
Unspecified privation
28.5
6.3
8
*
E78.00
ICD-10 Finland
Familial hypercholesterolaemia
+∞
6.3
6
*
PD4CG
NOMESCO Finland
Extensive MRI examination of abdominal aortta and vasculature of lower extremities with high intensity magnet
+∞
6.3
6
*
AN1
HP
Coronary angiography
5.7
6.2
17
34
XPX99
NOMESCO Finland
Other diagnostic examination of periferal vessel
5.7
6.2
17
34
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.8
6.1
53
275
Mortality – FinRegistry
↥Association
Association between endpoint E4_AROMAMINO and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_AROMAMINO | 2.581 [1.81, 3.67] | < 0.001 |
| Birth year | 0.995 [0.99, 1.0] | 0.231 |
During the follow-up period (1.1.1998 — 31.12.2019), 148 out of 395 females with E4_AROMAMINO died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_AROMAMINO | 2.889 [2.02, 4.13] | < 0.001 |
| Birth year | 0.987 [0.98, 1.0] | 0.006 |
During the follow-up period (1.1.1998 — 31.12.2019), 185 out of 477 males with E4_AROMAMINO died.
Mortality risk
Mortality risk for people of age
years, who have E4_AROMAMINO.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.266% | 0.666% |
| 5 | 1.487% | 3.418% |
| 10 | 3.9% | 8.606% |
| 15 | 7.321% | 15.494% |
| 20 | 12.257% | 25.231% |
Relationships between endpoints
↥Index endpoint: E4_AROMAMINO – Disorders of aromatic amino-acid metabolism
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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