Disorders of porphyrin and bilirubin metabolism
Description
Gilbert syndrome: An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.
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 | 82 | 28 | 54 |
| Unadjusted prevalence (%) | 0.06 | 0.04 | 0.09 |
| Mean age at first event (years) | 43.81 | 45.36 | 43.0 |
| Median number of events / individual | 1 | 1 | 1 |
Clinical metrics
| Sex | All | Female | Male |
| Recurrence within 6 months (%) | 25.61 | 25.0 | 25.93 |
| Case fatality at 5-years (%) | 2.44 | 0.0 | 3.7 |