Surfactant metabolism dysfunction, pulmonary, 2

Common Name(s)

Surfactant metabolism dysfunction, pulmonary, 2

Surfactant protein C (SPC) deficiency is a rare autosomal dominant disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course. The pathophysiology of the disorder is postulated to involve intracellular accumulation of a structurally defective SPC protein ({11:Thomas et al., 2002}). For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 ({265120}).
 

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Condition Specific Organizations

Following organizations serve the condition "Surfactant metabolism dysfunction, pulmonary, 2" for support, advocacy or research.

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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