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alpha 1-antitrypsin deficiency

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


Explore Associated Targets
Mondo Description 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.
Uniprot Description A disorder whose most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0013282:  alpha 1-antitrypsin deficiency
COHD:192275: 
GARD:0005784: 
ICD10:E88.01: 
ICD9:273.4: 
MESH:D019896: 
NCIT:C84397: 
Orphanet:60: 
SCTID:30188007: 
UMLS:C0221757: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)