Alpha-1-antitrypsin deficiency

Orpha code: 60OMIM code: 613490

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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