Alpha-1-antitrypsin deficiency (Q40158)
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Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterised by low serum levels of AAT, the main protease inhibitor (PI) in human serum.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C5A |
||
| English | Alpha-1-antitrypsin deficiency |
Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterised by low serum levels of AAT, the main protease inhibitor (PI) in human serum. |
