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Interstitial lung disease due to SP-C deficiency

Disease definition

A rare genetic interstitial lung disease characterized by diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea, cough, wheezing, and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. Infiltrates and air leaks are frequent complications.


Classification level: Disorder
  • Synonym(s):
    • Interstitial lung disease due to surfactant protein C deficiency
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Infancy, Childhood, Adolescent, Adult
  • ICD-10: J84.8
  • OMIM: 610913
  • UMLS: C1970470
  • MeSH: C567048
  • GARD: -
  • MedDRA: -

Detailed information


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