Interstitial lung disease due to SP-C deficiency
Synonyms: Interstitial lung disease due to surfactant protein C deficiency
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.
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 http://www.orphadata.org. Data version April 2024
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Interstitial lung disease due to SP-C 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
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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