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Diseases

Genetic and Rare Diseases Information Center (GARD)

Congenital pulmonary alveolar proteinosis


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

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.
  • A page For Individuals with PAP is available from the PAP Foundation. This page covers frequently asked questions about the condition. Please note: this organization appears to be inactive, so the page may not be kept up-to-date. 

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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
  • Pulmonary alveolar proteinosis, congenital
  • Congenital PAP
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.