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interstitial lung disease due to ABCA3 deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description 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.
Uniprot Description A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress.
Mondo Term and Equivalent IDs
MONDO:0012582:  interstitial lung disease due to ABCA3 deficiency
MESH:C567046: 
Orphanet:440402: 
UMLS:C1970456: