alpha-1-antitrypsin deficiency
MeSH: D019896ORPHA: 60
Overview
genetic disorder that may result in lung disease or liver disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with alpha-1-antitrypsin deficiency, sourced from HPO and Orphanet clinical annotations.
EmphysemaBronchiectasisReduced circulating alpha-1-antitrypsin concentrationJaundiceHepatic fibrosisElevated circulating hepatic transaminase concentrationProlonged neonatal jaundiceNeonatal unconjugated hyperbilirubinemiaHepatitisBronchitisDecreased DLCOIntrahepatic inclusion bodiesCirrhosisCholestasisPortal hypertensionFailure to thrive in infancyAsthmaChronic pulmonary obstructionCytoplasmic antineutrophil antibody positivityHepatocellular carcinomaPanniculitis
Classification & Codes
MeSH Code
D019896Orphanet Code
ORPHA:60alpha-1-antitrypsin deficiency
| MeSH | D019896 |
| Orphanet | ORPHA:60 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO