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Alpha-1 antitrypsin deficiency (A1ATD)

Disease ID:1174
Name:Alpha-1 antitrypsin deficiency (A1ATD)
Associated with:1 target
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. Vertex Pharmaceuticals had a small molecule (VX-814) in development as a protein expression 'corrector', that was proposed to boost levels of correctly folded A1AT protein. However, in October 2020, Vertex terminated development at phase 2 (NCT04167345) due to issues of liver toxicity.
Database Links
OMIM: 613490
Orphanet: ORPHA60


regulator of G-protein signaling 16


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