alpha 1-antitrypsin deficiency
Findings
No curated finding names alpha 1-antitrypsin deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.
Definition from the Mondo Disease Ontology (MONDO:0013282), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Early young adult onset
HPO, annotations 2026-09-02
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BronchiectasisHPOHP:0002110
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- CirrhosisHPOHP:0001394
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- CoughHPOHP:0012735
- 1 of 1 reported patient
- Decreased circulating alpha-1-antitrypsin concentrationHPOHP:0032025
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Gastric varixHPOHP:0030169
- 1 of 1 reported patient
- HemoptysisHPOHP:0002105
- 1 of 1 reported patient
Show the remaining 17
- Hepatic fibrosisHPOHP:0001395
- Frequent (30% to 79% of cases)
- HepatitisHPOHP:0012115
- Frequent (30% to 79% of cases)
- Intrahepatic inclusion bodiesHPOHP:6000976
- Frequent (30% to 79% of cases)
- JaundiceHPOHP:0000952
- Frequent (30% to 79% of cases)
- Neonatal unconjugated hyperbilirubinemiaHPOHP:0008176
- Frequent (30% to 79% of cases)
- Prolonged neonatal jaundiceHPOHP:0006579
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SERPINA1HGNC:8941
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Genomics England PanelApp · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: alpha 1-antitrypsin deficiency
- Also called
- A-1ATDA1ADAAT deficiencyAlpha-1 Antitrypsin Deficiencydeficiency in Alpa-1-proteinase inhibitoremphysema due to AAT deficiencyemphysema-cirrhosis, due to AAT deficiencyhemorrhagic diathesis due to antithrombin pittsburgh