Disorders of porphyrin and bilirubin metabolism
Description
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.']
Data source
FinnGen phenocode | E4_PORBILIR |
Hospital Discharge registry | ICD-10: E80 |
Cause of Death registry | ICD-10: E80 |
Include | E4_HERERYPOR, E4_PORCUTTAR, E4_PORPHYNAS, E4_CATAPEROXDEF, E4_GILBERT, E4_CRIGLERNAJJAR, E4_PORBILIRNAS |
Level in the ICD-hierarchy | 3 |
First defined in version | DF2 |
Key figures
Sex | All | Female | Male |
Number of individuals | 112 | 42 | 70 |
Unadjusted prevalence (%) | 0.06 | 0.04 | 0.09 |
Mean age at first event (years) | 44.1 | 46.57 | 42.62 |
Case fatality at 5-years (%) | 3.57 | 0.0 | 5.71 |
Longitudinal metrics
Sex | All | Female | Male |
Median nb. of events per indiv. | 1 | 1 | 1 |
Recurrence at 6 months (%) | 24.11 | 21.43 | 25.71 |
Associations
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