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Congenital pulmonary alveolar proteinosis

Other Names for this Disease
  • Congenital PAP
  • Pulmonary alveolar proteinosis, congenital
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Congenital pulmonary alveolar proteinosis is a rare form of respiratory failure that is present from birth.[1] In this condition, a type of protein builds up in the air sacs (alveoli) of the lungs, making breathing difficult.[1] Congenital pulmonary alveolar proteinosis is caused by mutations in the SFTPB, SFTPC, ABCA3, or CSF2RA gene, and it is typically inherited in an autosomal recessive pattern.[2]
Last updated: 11/17/2010


  1. Blaivas AJ. Pulmonary alveolar proteinosis. MedlinePlus. May 21, 2009; Accessed 11/17/2010.
  2. Kniffin, CL. Surfactant metabolism dysfunction, pulmonary 1. OMIM. April 24, 2007; Accessed 11/17/2010.
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  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
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  • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital pulmonary alveolar proteinosis. Click on the link to view a sample search on this topic.

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