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Disorders of porphyrin and bilirubin metabolism

DOIDEFOMESH PheWeb

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

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FinnGen phenotype data

321302 individuals

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Apply sex-specific rule None

321302

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Check conditions None

321302

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Filter registries

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

257

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Check pre-conditions, main-only, mode, ICD version

Look only at ICD versions H.D: 10 ; C.O.D: 10

203

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Check minimum number of events None

203

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Include endpoints

230

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E4_PORBILIR

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

Similar endpoints

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List of similar endpoints to Disorders of porphyrin and bilirubin metabolism based on the number of shared cases.

Venn diagram with an highlighted set fully inside another set Broader endpoints:

Venn diagram with a set fully inside an highlighted set Narrower endpoints:

Show all endpoint correlations

Summary Statistics

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Key figures

All Female Male
Number of individuals 221 93 128
Unadjusted prevalence (%) 0.07 0.05 0.09
Mean age at first event (years) 44.14 45.34 43.27

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

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Index endpoint: E4_PORBILIR – Disorders of porphyrin and bilirubin metabolism
GWS hits: 2

Survival analyses between endpoints

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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

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