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 |
429209 |
1. Apply sex-specific ruleNone |
429209 |
2. Check conditionsNone |
429209 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
16 |
4. Check minimum number of eventsNone |
16 |
5. Include endpointsNone |
16 |
6. Filter based on genotype QC (FinnGen only) |
16 |
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.
Broader endpoints:
- Disorders of glycoprotein metabolism
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Diseases of the musculoskeletal system and connective tissue
- Any reimbursement code in KELA
Narrower endpoints:
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 | 16 | 11 | 5 |
| Unadjusted period prevalence (%) | 0.00 | 0.00 | 0.00 |
| Median age at first event (years) | 55.37 | 53.59 | 59.30 |
-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
Not a core endpoint, no data to show.
Mortality – FinRegistry
↥Relationships between endpoints
↥Index endpoint: E4_LYSOPOSTTRANS – Defects in post-translational modification of lysosomal enzymes
GWS hits: -
Loading Relationships table