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Diseases

Genetic and Rare Diseases Information Center (GARD)

Shwachman-Diamond syndrome


Other Names for this Disease
  • SDS
  • Pancreatic insufficiency and bone marrow dysfunction
  • Shwachman-Bodian syndrome
  • Lipomatosis of pancreas, congenital
  • Congenital lipomatosis of pancreas
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

Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. About 90% of cases of Shwachman-Diamond syndrome are caused by mutations in the SBDS gene. In cases where no SBDS mutation is found, the cause of this disorder is unknown. This condition is inherited in an autosomal recessive manner.[1] Treatment may include enzyme and vitamin supplementation, blood and/or platelet transfusion, administration of granulocyte-colony stimulating factor (G-CSF), and/or hematopoietic stem cell transplantation.[1367]

Last updated: 6/23/2015

References

  1. Shwachman-Diamond syndrome. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=shwachmandiamondsyndrome.
  2. Myers K. Shwachman-Diamond Syndrome. GeneReviews. September 11, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1756/. Accessed 6/23/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Shwachman-Diamond syndrome. This website is maintained by the National Library of Medicine.
  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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 Shwachman-Diamond syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • SDS
  • Pancreatic insufficiency and bone marrow dysfunction
  • Shwachman-Bodian syndrome
  • Lipomatosis of pancreas, congenital
  • Congenital lipomatosis of pancreas
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.