This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
E4_PORPHYNAS
obsolete_porphyria: ['A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.']
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. |
52 |
4. Check minimum number of eventsNone |
52 |
5. Include endpointsNone |
52 |
6. Filter based on genotype QC (FinnGen only) |
48 |
Control definitions (FinnGen only)
Extra metadata
List of similar endpoints to
Other porphyria
based on the number of shared cases.
Broader endpoints:
Narrower endpoints:
None
All | Female | Male | |
---|---|---|---|
Number of individuals | |||
Whole population | 538 | 301 | 234 |
Only index persons | 443 | 260 | 183 |
Unadjusted period prevalence (%) | |||
Whole population | 0.01 | 0.01 | 0.01 |
Only index persons | 0.01 | 0.01 | 0.01 |
Median age at first event (years) | |||
Whole population | 39.54 | 37.46 | 42.05 |
Only index persons | 37.68 | 37.08 | 38.53 |
All | Female | Male | |
---|---|---|---|
Number of individuals | 48 | 20 | 28 |
Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.02 |
Median age at first event (years) | 45.02 | 39.67 | 48.83 |
Not a core endpoint, no data to show.
Index endpoint: E4_PORPHYNAS – Other porphyria
GWS hits: -
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