DISEASES

Disease-gene associations mined from literature

Human genes for alpha 1-antitrypsin deficiency

Alpha 1-antitrypsin deficiency [DOID:13372]

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.

Synonyms:  alpha 1-antitrypsin deficiency,  DOID:13372,  alpha 1antitrypsin deficiency,  AAT deficiency

Linkouts:  OMIM