Disease Description: Surfactant Metabolism Dysfunction is a condition characterized by insufficient pulmonary surfactant needed for appropriate respiration.
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Disease Symptom: Genetic disorders of the surfactant homeostasis genes can lead to multiple lung diseases in neonates, children and adults, including neonatal respiratory distress syndrome, interstitial pneumonia, pulmonary alveolar proteinosis and pulmonary fibrosis.
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Disease Description Source: Link
2020 |
Dillard,K.J.,Ochs,M.,Niskanen,J.E.,Arumilli,M.,Donner,J.,Kyöstilä,K.,Hytönen,M.K.,Anttila,M.,Lohi,H.: :
Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs. PLoS Genet 16:e1008651, 2020. Pubmed reference: 32150563 . DOI: 10.1371/journal.pgen.1008651 . |