Orphanet: Interstitial lung disease due to SP C deficiency

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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.

ORPHA:440392

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: -

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Interstitial lung disease due to SP-C deficiency

ORPHA:440392

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

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