Disorders of plasma-protein metabolism, not elsewhere classified

Description

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.']

Data source
FinnGen phenocode E4_PLASMAPROT
Level in the ICD-hierarchy 4
First defined in version DF2
Ontology
DOID 13372
GWAS catalog 0002946

Key figures

Sex All Female Male
Number of individuals 45 20 25
Unadjusted prevalence (%) 0.03 0.03 0.04
Mean age at first event (years) 54.19 51.76 56.14
Median number of events / individual 3 2 3

Clinical metrics

Sex All Female Male
Recurrence within 6 months (%) 46.67 50.0 44.0
Case fatality at 5-years (%) 2.22 5.0 0.0

Associations