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 |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
222 |
4. Check minimum number of eventsNone |
222 |
5. Include endpointsNone |
222 |
6. Filter based on genotype QC (FinnGen only) |
215 |
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 | 215 | 112 | 103 |
| Unadjusted period prevalence (%) | 0.05 | 0.04 | 0.05 |
| Median age at first event (years) | 53.55 | 52.91 | 54.23 |
-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
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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