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Alpha-1-antitrypsin deficiency

Synonym(s) Deficiency in Alpa-1-proteinase inhibitor
Prevalence 1-5 / 10 000
Inheritance Autosomal recessive
Age of onset All ages
  • E88.0
  • C0221757
  • C531610
  • D019896
  • 10001806


Disease definition

Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.

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Detailed information

Summary information
Emergency guidelines
Review article
Guidance for genetic testing
Article for general public
Clinical genetics review
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