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
↥
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. |
336 |
4. Check minimum number of eventsNone |
336 |
5. Include endpoints |
374 |
6. Filter based on genotype QC (FinnGen only) |
353 |
Control definitions (FinnGen only)
Control exclude
E4_METABOLIA
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E70-E90
Name in latin
Perturbationes metabolismi porphyrini et bilirubini
Similar endpoints
↥List of similar endpoints to
Disorders of porphyrin and bilirubin metabolism
based on the number of shared cases.
Similar with more cases:
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 3518 | 1459 | 2032 |
| Only index persons | 3166 | 1332 | 1834 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.05 | 0.04 | 0.06 |
| Only index persons | 0.06 | 0.05 | 0.07 |
| Median age at first event (years) | |||
| Whole population | 38.30 | 39.37 | 37.32 |
| Only index persons | 37.26 | 39.00 | 36.00 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 353 | 155 | 198 |
| Unadjusted period prevalence (%) | 0.08 | 0.06 | 0.10 |
| Median age at first event (years) | 43.62 | 41.50 | 45.28 |
-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_PORBILIR and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_PORBILIR | 1.937 [1.55, 2.43] | < 0.001 |
| Birth year | 0.994 [0.99, 1.0] | 0.166 |
During the follow-up period (1.1.1998 — 31.12.2019), 140 out of 1058 females with E4_PORBILIR died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_PORBILIR | 1.442 [1.18, 1.76] | < 0.001 |
| Birth year | 0.992 [0.98, 1.0] | 0.113 |
During the follow-up period (1.1.1998 — 31.12.2019), 232 out of 1474 males with E4_PORBILIR died.
Mortality risk
Mortality risk for people of age
years, who have E4_PORBILIR.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.134% | 0.283% |
| 5 | 1.176% | 1.95% |
| 10 | 2.932% | 4.595% |
| 15 | 5.514% | 8.699% |
| 20 | 9.052% | 14.938% |
Relationships between endpoints
↥Index endpoint: E4_PORBILIR – Disorders of porphyrin and bilirubin metabolism
GWS hits: 1
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
Loading data