Disorders of plasma-protein metabolism, not elsewhere classified

obsolete_alpha-1-antitrypsin deficiency: ['A lung disease that is characterized as a genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. Alpha-1 antitrypsin works to protect the lungs from a naturally occuring destructive enzyme that is produced by the lungs in response to infections and toxins (such as cigarette smoke). Without enough A1AT, these enzymes slowly destroy the lung tissue causing emphysema. The symptoms include shortness of breath, wheezing, rhonchi, and rales.']

Endpoint definition

FinnGen phenotype data
diagram bullet diagram downward connector

Filter registries Inpat., Oupat., Death

Hospital Discharge: ICD-10 E88.0#
Hospital discharge: ICD-9 273[8-9]
Cause of death: ICD-10 E88.0#
Cause of death: ICD-9 273[8-9]

Check pre-conditions None

Include endpoints None

Check conditions None

Apply sex-specific rule None

diagram downward connector E4_PLASMAPROT

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E88
Name in latin Perturbationes metabolismi proteinorum plasmaticorum non alibi classificatae

Summary Statistics

Key figures

All Female Male
Number of individuals 99 58 41
Unadjusted prevalence (%) 0.04 0.04 0.04
Mean age at first event (years) 50.53 48.59 53.29

Mortality

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

Correlations

Index endpoint: E4_PLASMAPROT – Disorders of plasma-protein metabolism, not elsewhere classified
GWS hits: 7

Survival analyses between endpoints

Plot

before Disorders of plasma-protein metabolism, not elsewhere classified
after Disorders of plasma-protein metabolism, not elsewhere classified

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Drugs most likely to be purchased after Disorders of plasma-protein metabolism, not elsewhere classified