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
Ontology
DOID 13268
GWAS catalog 0000665
MESH D011164

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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