Disorders of porphyrin and bilirubin metabolism

E4_PORBILIR

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

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Apply sex-specific rule None

429209

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Check conditions None

429209

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Check pre-conditions, main-only, mode, registry filters

Hospital Discharge: ICD-10 E80
Cause of death: ICD-10 E80

2 out of 7 registries used, show all original rules.

297

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Check minimum number of events None

297

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Remove individuals based on genotype QC

315

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E4_PORBILIR

Control definitions

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E70-E90
Name in latin Perturbationes metabolismi porphyrini et bilirubini

Summary Statistics

Key figures

All Female Male
Number of individuals 315 138 177
Unadjusted prevalence (%) 0.08 0.06 0.10
Mean age at first event (years) 43.86 42.50 44.93

Mortality

Follow-up Absolute risk HR [95% CI] p N
1998–2019 - - - -
15 years - - - -
5 years - - - -
1 year - - - -

Age distribution of first events

Year distribution of first events

Cumulative Incidence

Correlations

Index endpoint: E4_PORBILIR – Disorders of porphyrin and bilirubin metabolism
GWS hits: 1

Survival analyses between endpoints

Plot

before Disorders of porphyrin and bilirubin metabolism
after Disorders of porphyrin and bilirubin metabolism

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Drugs most likely to be purchased after Disorders of porphyrin and bilirubin metabolism

Endpoint not on priority list, no data to show.