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Interstitial lung disease due to ABCA3 deficiency

Disease definition

Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.

ORPHA:440402

  • Synonym(s):
    • Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy, Childhood
  • ICD-10: J84.8
  • OMIM: 610921
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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