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Alpha-1-antitrypsin deficiency

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.

ORPHA:60

  • Synonym(s):
    • Deficiency in Alpa-1-proteinase inhibitor
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E88.0
  • OMIM: 613490
  • UMLS: C0221757  C3501835
  • MeSH: C531610  D019896
  • GARD: 5784
  • MedDRA: 10001806

Additional information

Specialised Social Services

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