alpha 1-antitrypsin deficiency (DOID:13372)
Alliance: disease page
Synonyms: AAT deficiency
Alt IDs: OMIM:613490, ICD10CM:E88.01, ICD9CM:273.4, MESH:D019896, NCI:C84397, UMLS_CUI:C0221757
Definition: A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.