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Genetic and Rare Diseases Information Center (GARD)

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Congenital pulmonary alveolar proteinosis


Other Names for this Disease

  • Congenital PAP
  • Pulmonary alveolar proteinosis, congenital
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Overview

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

References

  1. Blaivas AJ. Pulmonary alveolar proteinosis. MedlinePlus. May 21, 2009; http://www.nlm.nih.gov/medlineplus/ency/article/000114.htm. Accessed 11/17/2010.
  2. Kniffin, CL. Surfactant metabolism dysfunction, pulmonary 1. OMIM. April 24, 2007; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=265120. Accessed 11/17/2010.
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Basic Information

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • 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.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Congenital PAP
  • Pulmonary alveolar proteinosis, congenital
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.