Alpha-1-antitrypsin deficiency

Orpha code: 60OMIM code: 613490

Definition

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.

Disease data
Classification

Disease

Synonyms
Alpha-1-proteinase inhibitor deficiency
Niedobór inhibitora Alfa-1-proteinazy
Alpha1-antitrypsin deficiency
ORPHA code
60
OMIM code
613490
ICD10 code
E88.0
ICD11 code
5C5A

No additional description.

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