Other porphyria

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
diagram bullet diagram downward connector

Filter registries Inpat., Oupat., Death

Hospital Discharge: ICD-10 E80.2#
Hospital discharge: ICD-9 2771
Hospital discharge: ICD-8 2731
Hospital discharge: excluded ICD-9 2771B
Hospital discharge: excluded ICD-8 27310
Cause of death: ICD-10 E80.2#
Cause of death: ICD-9 2771
Cause of death: ICD-8 2731

Check pre-conditions None

Include endpoints None

Check conditions None

Apply sex-specific rule None

diagram downward connector E4_PORPHYNAS

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E80
Name in latin Alia porphyria

Summary Statistics

Key figures

All Female Male
Number of individuals 36 15 21
Unadjusted prevalence (%) 0.01 0.01 0.02
Mean age at first event (years) 43.92 39.45 47.11

Mortality

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

Correlations

Index endpoint: E4_PORPHYNAS – Other porphyria
GWS hits:

Survival analyses between endpoints

Plot

before Other porphyria
after Other porphyria

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