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. (DO)
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction
is comprised of a complex set of reactions and/or regulatory events, possibly involving
additional chemicals and/or gene products.
ClinVar Annotator: match by term: AAT deficiency | ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency | ClinVar Annotator: match by term: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | ClinVar Annotator: match by term: PI NULL(PROCIDA) | ClinVar Annotator: match by term: PI Q0(BELLINGHAM) | ClinVar Annotator: match by term: PI Q0(GRANITE FALLS) | ClinVar Annotator: match by term: PI Q0(LUDWIGSHAFEN) | ClinVar Annotator: match by term: PI Q0(NEWPORT) | ClinVar Annotator: match by term: PI S(IIYAMA) | ClinVar Annotator: match by term: PI W(BETHESDA) | ClinVar Annotator: match by term: PI Z(BRISTOL) | ClinVar Annotator: match by term: SERPINA1-related condition