ORPHA:60
Alpha-1-antitrypsin deficiency
Also called Alpha-1-proteinase inhibitor deficiency, Alpha1-antitrypsin deficiency
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- All ages
- Estimated prevalence
- 1-5 / 10 000 (Ireland)
- Rarity class
- 1-5 / 10 000
ORPHA:60 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Emphysema
- Bronchiectasis
- Reduced circulating alpha-1-antitrypsin concentration
- Jaundice
- Hepatic fibrosis
- Elevated circulating hepatic transaminase concentration