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 |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
61 |
4. Check minimum number of eventsNone |
61 |
5. Include endpointsNone |
61 |
6. Filter based on genotype QC (FinnGen only) |
61 |
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
- E80
- Name in latin
- Alia porphyria
Similar endpoints
↥List of similar endpoints to
Other porphyria
based on the number of shared cases.
Similar with more cases:
- Disorders of porphyrin and bilirubin metabolism
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- 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 | 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 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 61 | 27 | 34 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 43.74 | 37.13 | 49.00 |
-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
No data
CodeWAS (R11)
↥CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.
This is a new tool, please reach out using the contact form for feedback and improvement ideas.
First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.
Matched cohort
- Matched cases
- 56
- Matched controls
- 561
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E80.2
ICD-10 Finland
Other porphyria
+∞
55.9
44
*
E80.0
ICD-10 Finland
Hereditary erythropoietic porphyria
+∞
10.8
10
*
E80.1
ICD-10 Finland
Porphyria cutanea tarda
+∞
9.6
9
*
27311
ICD-8 Finland
Other and unspecified congenital disorders of metabolism, Porphyria acuta intermittens
+∞
8.5
8
*
A11CC03
ATC
alfacalcidol; systemic
30.5
6.4
8
*
Mortality – FinRegistry
↥Association
Association between endpoint E4_PORPHYNAS and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have E4_PORPHYNAS.| 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_PORPHYNAS – Other porphyria
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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