This is a non-core endpoint: only basic statistics are computed.
Other porphyria
DOID EFO MESH Endpoint Browser
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
↥
FinnGen phenotype data
429209 individuals
Apply sex-specific rule None
429209
Check conditions None
429209
Check pre-conditions, main-only, mode, registry filters
Hospital Discharge: ICD-10
E80.2#
Hospital discharge: ICD-9
2771
Hospital discharge: ICD-8
2731
Hospital discharge: excluded ICD-9
2771B
Hospital discharge: excluded ICD-8
27310
Cause of death: ICD-10
E80.2#
Cause of death: ICD-9
2771
Cause of death: ICD-8
2731
2 out of 7 registries used, show all original rules.
52
Check minimum number of events None
52
Include endpoints None
52
Remove individuals based on genotype QC
48
E4_PORPHYNAS
Control definitions
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
Show upset plot detailing case counts by codes
Or the full data table
Similar endpoints
↥List of similar endpoints to
Other porphyria
based on the number of shared cases.
Broader endpoints:
- Disorders of porphyrin and bilirubin metabolism
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any event in hilmo or specialist outpatient
Narrower endpoints:
None
Summary Statistics
↥Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 48 | 20 | 28 |
| Unadjusted prevalence (%) | 0.01 | 0.01 | 0.02 |
| Mean age at first event (years) | 43.86 | 40.38 | 46.34 |
Mortality
Not a core endpoint, no data to show.
Age distribution of first events
Year distribution of first events
Cumulative Incidence
Not a core endpoint, no data to show.
Correlations
↥
Index endpoint: E4_PORPHYNAS – Other porphyria
GWS hits:
Survival analyses between endpoints
↥Not a core endpoint, no data to show.
Drugs most likely to be purchased after Other porphyria
↥Endpoint not on priority list, no data to show.