Belgian Genetic Tests database
Alpha-1-antitrypsin deficiency
| Name: |
Alpha-1-antitrypsin deficiency
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| Description: |
A rare hereditary, metabolic disease characterized by serum levels of alpha-1-antitrypsin (AAT) that are well below the normal range. In the most severe form, the disease can clinically manifest with chronic liver disorders (cirrhosis, fibrosis), respiratory disorders (emphysema, bronchiectasis), and rarely panniculitis or vasculitis.
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| ORPHAcode: |
60
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| Synonyms: |
Alpha-1-proteinase inhibitor deficiency
Alpha1-antitrypsin deficiency
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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