This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Disorders of urea cycle metabolism
E4_UREACYCLE
No definition available.
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. |
24 |
4. Check minimum number of eventsNone |
24 |
5. Include endpointsNone |
24 |
6. Filter based on genotype QC (FinnGen only) |
24 |
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
E72
Name in latin
Perturbationes cycli urealis
Similar endpoints
↥List of similar endpoints to
Disorders of urea cycle metabolism
based on the number of shared cases.
Similar with more cases:
- Other disorders of amino-acid metabolism
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any operation in hilmo
- 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 | 302 | 123 | 178 |
| Only index persons | 237 | 102 | 135 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.00 | 0.00 | 0.00 |
| Only index persons | 0.00 | 0.00 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 43.32 | 44.19 | 42.61 |
| Only index persons | 46.36 | 45.17 | 47.26 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 24 | 13 | 11 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 46.37 | 33.92 | 61.08 |
-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
No data
-FinnGen-
Cumulative Incidence Function
Not a core endpoint, no data to show.
Mortality – FinRegistry
↥Association
Association between endpoint E4_UREACYCLE and mortality.
Females
No dataMales
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_UREACYCLE | 9.479 [3.56, 25.26] | < 0.001 |
| Birth year | 0.994 [0.98, 1.0] | 0.24 |
During the follow-up period (1.1.1998 — 31.12.2019), 53 out of 138 males with E4_UREACYCLE died.
Mortality risk
Mortality risk for people of age
years, who have E4_UREACYCLE.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | 2.198% |
| 5 | No data | 12.302% |
| 10 | No data | 29.894% |
| 15 | No data | 51.368% |
| 20 | No data | 71.397% |
Relationships between endpoints
↥Index endpoint: E4_UREACYCLE – Disorders of urea cycle metabolism
GWS hits: -
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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