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Alpha-1-antitrypsin deficiency

Disease 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.

ORPHA:60

Classification level: Disorder
  • Synonym(s):
    • Alpha-1-proteinase inhibitor deficiency
    • Alpha1-antitrypsin deficiency
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E88.0
  • ICD-11: 5C5A
  • OMIM: 613490
  • UMLS: C0221757
  • MeSH: D019896
  • GARD: 5784
  • MedDRA: 10001806

Detailed information

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Genetic Testing

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