This is a non-core endpoint: only basic statistics are computed.
Defects in post-translational modification of lysosomal enzymes
E4_LYSOPOSTTRANS
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. |
18 |
4. Check minimum number of eventsNone |
18 |
5. Include endpointsNone |
18 |
6. Filter based on genotype QC (FinnGen only) |
18 |
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
E77
Name in latin
Defectus modificationis enzymorum lysosomalium post translationem
Similar endpoints
↥List of similar endpoints to
Defects in post-translational modification of lysosomal enzymes
based on the number of shared cases.
Similar with more cases:
- Disorders of glycoprotein metabolism
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any reimbursement code in KELA
- Any operation in hilmo
Similar with less cases:
None
Case counts by codes
↥Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 97 | 47 | 49 |
| Only index persons | 82 | 41 | 41 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.00 | 0.00 | 0.00 |
| Only index persons | 0.00 | 0.00 | 0.00 |
| Median age at first event (years) | |||
| Whole population | 51.52 | 50.78 | 51.58 |
| Only index persons | 53.22 | 52.52 | 53.92 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 18 | 12 | 6 |
| Unadjusted period prevalence (%) | 0.00 | 0.00 | 0.00 |
| Median age at first event (years) | 55.01 | 53.51 | 57.99 |
-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_LYSOPOSTTRANS and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have E4_LYSOPOSTTRANS.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | No data |
| 5 | No data | No data |
| 10 | No data | No data |
| 15 | No data | No data |
| 20 | No data | No data |
Relationships between endpoints
↥Index endpoint: E4_LYSOPOSTTRANS – Defects in post-translational modification of lysosomal enzymes
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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