Alpha-1 antitrypsin deficiency (A1ATD)

Disease ID:1174
Name:Alpha-1 antitrypsin deficiency (A1ATD)
Associated with:1 targets
0 immuno targets
0 immuno ligands
A1ATD is an autosomal recessive disorder, characterised by defective production of alpha 1-antitrypsin (protein product of the SERPINA1 gene). This leads to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. The form and severity of disease depends on whether the sufferer is homozygous or heterozygous for a deffective SERPINA1 allele.
Database Links
OMIM: 613490
Orphanet: ORPHA60



No ligand related data available for Alpha-1 antitrypsin deficiency (A1ATD)