obsolete_alpha-1-antitrypsin deficiency: ['A lung disease that is characterized as a genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. Alpha-1 antitrypsin works to protect the lungs from a naturally occuring destructive enzyme that is produced by the lungs in response to infections and toxins (such as cigarette smoke). Without enough A1AT, these enzymes slowly destroy the lung tissue causing emphysema. The symptoms include shortness of breath, wheezing, rhonchi, and rales.']
Disorders of plasma-protein metabolism, not elsewhere classified
DOID EFO Endpoint Browser PheWeb
E4_PLASMAPROT
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. |
246 |
4. Check minimum number of eventsNone |
246 |
5. Include endpointsNone |
246 |
6. Filter based on genotype QC (FinnGen only) |
246 |
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
- Perturbationes metabolismi proteinorum plasmaticorum non alibi classificatae
Similar endpoints
↥List of similar endpoints to
Disorders of plasma-protein metabolism, not elsewhere classified
based on the number of shared cases.
Similar with more cases:
- Other metabolic disorders
- 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 | 1574 | 706 | 856 |
| Only index persons | 1269 | 601 | 668 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.02 | 0.02 |
| Only index persons | 0.02 | 0.02 | 0.03 |
| Median age at first event (years) | |||
| Whole population | 46.52 | 47.95 | 45.18 |
| Only index persons | 46.35 | 47.73 | 45.10 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 246 | 124 | 122 |
| Unadjusted period prevalence (%) | 0.05 | 0.04 | 0.05 |
| Median age at first event (years) | 53.84 | 53.44 | 54.25 |
-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
- 222
- Matched controls
- 2219
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E88.0
ICD-10 Finland
Disorders of plasma-protein metabolism, not elsewhere classified
+∞
318.2
221
*
J44.8
ICD-10 Finland
Other specified chronic obstructive pulmonary disease
16.1
46.4
80
75
203
Kela drug reimbursment
Chronic asthma and similar chronic obstructive pulmonary diseases
7.6
37.7
108
245
R03BB04
ATC
tiotropium bromide; inhalant
10.5
34.5
73
99
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
18.7
31.4
49
33
J45.9
ICD-10 Finland
Asthma, unspecified
6.1
27.4
88
215
R03AC02
ATC
salbutamol; inhalant
5.1
26.7
168
843
R03AK06
ATC
salmeterol and fluticasone; inhalant
7.0
26.7
74
148
GD1AA
NOMESCO Finland
Thorax X-ray examination
4.4
24.2
137
591
J45.1
ICD-10 Finland
Nonallergic asthma
8.2
23.5
56
88
GD1AD
NOMESCO Finland
Thorax CT examination
12.9
21.7
39
36
XG412
NOMESCO Finland
Flow-volume spirometry with bronchospasmolysis
10.8
20.4
40
44
Z94.2
ICD-10 Finland
Lung transplant status
+∞
20.1
19
*
R03DA04
ATC
theophylline; systemic, rectal
13.2
19.8
35
31
TGD04
NOMESCO Finland
Needle biopsy of the lungs in bronchoscopy
206.7
18.8
19
*
XG410
NOMESCO Finland
Flow-volume spirometry
11.7
18.7
35
35
H02AB06
ATC
prednisolone; systemic
3.6
18.5
138
692
J44.1
ICD-10 Finland
Chronic obstructive pulmonary disease with acute exacerbation, unspecified
20.3
18.3
27
15
127
Kela drug reimbursment
Transplant complication
23.3
17.7
25
12
J43.9
ICD-10 Finland
Emphysema, unspecified
21.5
17.3
25
13
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
3.8
17.2
94
360
R03AK07
ATC
formoterol and budesonide; inhalant
4.2
16.9
74
234
R03AC12
ATC
salmeterol; inhalant
12.7
16.9
30
27
R03BA05
ATC
fluticasone; inhalant
4.2
16.8
75
241
J47
ICD-10 Finland
Bronchiectasis
25.5
16.8
23
10
J01MA12
ATC
levofloxacin; systemic
4.3
16.4
69
209
R06.0
ICD-10 Finland
Dyspnoea
3.9
16.1
78
269
J18.9
ICD-10 Finland
Pneumonia, unspecified
4.0
16.0
74
244
GDG10
NOMESCO Finland
Bilateral transplantation of lung
+∞
15.8
15
*
E88.9
ICD-10 Finland
Metabolic disorder, unspecified
+∞
15.8
15
*
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
6.3
15.8
44
84
R03DC03
ATC
montelukast; oral
4.2
15.8
69
216
R03BA02
ATC
budesonide; inhalant
4.2
15.7
68
211
UGC12
NOMESCO Finland
Flexible bronchoscopy
6.7
15.5
41
73
L04AA06
ATC
mycophenolic acid; systemic
16.7
15.3
24
16
R03AK08
ATC
formoterol and beclometasone; inhalant
10.0
15.0
30
34
J44.0
ICD-10 Finland
Chronic obstructive pulmonary disease with acute lower respiratory infection
10.0
15.0
30
34
R03BA01
ATC
beclometasone; inhalant
4.5
14.8
58
163
GD1ED
NOMESCO Finland
Extensive high resolution CT examination of lungs
12.6
14.7
26
23
GD1CD
NOMESCO Finland
Thorax extensive CT-examination
160.1
14.6
15
*
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
4.0
14.6
67
217
J45.0
ICD-10 Finland
Predominantly allergic asthma
5.6
14.2
43
91
R03BA08
ATC
ciclesonide; inhalant
5.5
14.1
44
96
J45.8
ICD-10 Finland
Mixed asthma
13.3
14.0
24
20
XG470
NOMESCO Finland
Measurement of diffusion capastity of the lungs
16.1
13.9
22
15
J43.1
ICD-10 Finland
Panlobular emphysema
+∞
13.7
13
*
J43.8
ICD-10 Finland
Other emphysema
+∞
13.7
13
*
K74.6
ICD-10 Finland
Other and unspecified cirrhosis of liver
22.9
13.6
19
9
L04AD01
ATC
ciclosporin; systemic
16.4
13.4
21
14
R03AC03
ATC
terbutaline; inhalant
4.2
12.8
52
150
J44.9
ICD-10 Finland
Chronic obstructive pulmonary disease, unspecified
9.3
12.7
26
31
E88.8
ICD-10 Finland
Other specified metabolic disorders
+∞
12.6
12
*
R03AL06
ATC
olodaterol and tiotropium bromide; inhalant
13.7
11.4
19
15
R03AK03
ATC
[D] fenoterol & other drugs for obstructive airway dis; inhalant
7.6
11.3
26
38
JJ2AT
NOMESCO Finland
Biopsy of liver with ultrasound guidance
14.9
11.2
18
13
FN1AC
NOMESCO Finland
Angiography of heart and/or coronary arteries
3.6
11.1
54
180
J46
ICD-10 Finland
Status asthmaticus
15.2
10.7
17
12
J01CR02
ATC
amoxicillin and beta-lactamase inhibitor; systemic
2.6
10.6
134
822
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
2.8
10.3
83
390
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
5.3
10.1
31
66
TGC00
NOMESCO Finland
Bronchial lavation
11.4
10.0
18
17
GD1BD
NOMESCO Finland
Thorax extensive CT-examination
5.9
9.8
27
51
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
5.0
9.6
31
70
G47.3
ICD-10 Finland
Sleep apnoea
2.9
9.4
65
276
J01AA02
ATC
doxycycline; systemic
2.8
9.3
181
1360
R03AC13
ATC
formoterol; inhalant
6.6
9.2
23
38
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.3
9.0
49
176
H02AB04
ATC
methylprednisolone; systemic
3.3
8.9
48
171
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.5
8.6
41
134
R01AD09
ATC
mometasone; nasal
2.3
8.4
111
664
GD1BT
NOMESCO Finland
Biopsy of lung with X-ray guidance
+∞
8.4
8
*
J96.1
ICD-10 Finland
Chronic respiratory failure
8.7
8.3
17
21
Z01.8
ICD-10 Finland
Other specified special examinations
2.7
8.2
61
270
R05CB01
ATC
acetylcysteine; inhalant, oral
23.0
8.1
11
5
R91
ICD-10 Finland
Abnormal findings on diagnostic imaging of lung
3.7
8.0
35
106
TFB00
NOMESCO Finland
Cathetrisation of pulmonal artery
13.7
8.0
13
10
R03AL09
ATC
formoterol, glycopyrronium bromide and beclometasone; inhalant
10.0
7.9
15
16
FM1BE
NOMESCO Finland
Cardiac ultrasound examination through oesophagus
5.3
7.9
23
47
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
4.5
7.8
27
66
R03AL08
ATC
vilanterol, umeclidinium bromide and fluticasone furoate; inhalant
15.8
7.8
12
8
R03BB01
ATC
ipratropium bromide; inhalant
6.9
7.6
18
28
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
6.9
7.6
18
28
DM1AA
NOMESCO Finland
Paranasal sinuses X-ray examination without contrast
6.4
7.6
19
32
L04AD02
ATC
tacrolimus; systemic (calcineurin inhibitors)
14.0
7.5
12
9
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
5.0
7.5
23
50
H02AB07
ATC
prednisone; oral
3.1
7.4
42
155
XX4BW
NOMESCO Finland
NA
+∞
7.3
7
*
J43.2
ICD-10 Finland
Centrilobular emphysema
+∞
7.3
7
*
C03CA01
ATC
furosemide; systemic
2.6
7.2
56
252
J20.9
ICD-10 Finland
Acute bronchitis, unspecified
2.8
7.2
50
210
Z50.1
ICD-10 Finland
Other physical therapy
5.0
7.1
22
48
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
3.9
7.0
28
79
R02
ICPC
Shortness of breath/dyspnoea
3.2
6.9
36
126
XG474
NOMESCO Finland
Exhalation nntrogen oxide
6.3
6.8
17
29
SPAT1256
SPAT
Intramuscular and subcutaneous injection
2.1
6.6
99
611
R5140
NOMESCO Finland
Monitoring the use of the aid
3.1
6.5
36
129
C10AA03
ATC
pravastatin; oral
5.2
6.5
19
39
R96
ICPC
Asthma
3.6
6.5
28
85
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
7.4
6.3
14
20
JJ1LE
NOMESCO Finland
Ultrasound elastography of liver
18.7
6.3
9
5
A02BC02
ATC
pantoprazole; systemic
2.1
6.3
144
1048
A02BC01
ATC
omeprazole; systemic
2.3
6.3
65
335
2776A
ICD-9 Finland
Other and unspecified disorders of metabolism, Other deficiencies of circulating enzymes[DEFECTUS ALFA1-ANTITRYPSINI]
+∞
6.3
6
*
KA1MN
NOMESCO Finland
Glomerular filtration rate (GFR) Isotope mesurement
27.5
6.3
8
*
J01FA10
ATC
azithromycin; systemic
2.0
6.2
134
950
Z31.5
ICD-10 Finland
Genetic counselling
4.8
6.1
19
42
Mortality – FinRegistry
↥Association
Association between endpoint E4_PLASMAPROT and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_PLASMAPROT | 2.638 [1.89, 3.68] | < 0.001 |
| Birth year | 0.993 [0.98, 1.0] | 0.116 |
During the follow-up period (1.1.1998 — 31.12.2019), 87 out of 555 females with E4_PLASMAPROT died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_PLASMAPROT | 3.193 [2.5, 4.09] | < 0.001 |
| Birth year | 0.985 [0.98, 0.99] | 0.003 |
During the follow-up period (1.1.1998 — 31.12.2019), 153 out of 681 males with E4_PLASMAPROT died.
Mortality risk
Mortality risk for people of age
years, who have E4_PLASMAPROT.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.2% | 0.625% |
| 5 | 1.247% | 3.59% |
| 10 | 3.249% | 8.999% |
| 15 | 6.513% | 16.458% |
| 20 | 11.882% | 26.107% |
Relationships between endpoints
↥Index endpoint: E4_PLASMAPROT – Disorders of plasma-protein metabolism, not elsewhere classified
GWS hits: 8
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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