Interstitial lung disease due to ABCA3 deficiency

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Interstitial lung disease due to ABCA3 deficiency

Synonyms: Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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Interstitial lung disease due to ABCA3 deficiency?

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Advocacy Organizations

Breathe Support Network

MISSION STATEMENT The Breathe Support Networks mission is to provide support and education for pulmonary fibrosis patients and their families, helping them to better #LIVEwithPF. This includes, but is not limited to: - education about pulmonary fibrosis - guiding patients and families on how to talk to their healthcare team - providing tips to live a healthier more productive life - providing information about other pulmonary fibrosis resources

Clinical Trials

For a list of clinical trials in this disease area, please click here.