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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Shwachman-Diamond syndrome


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


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What causes Shwachman-Diamond syndrome?

Mutations in the SBDS gene have been identified in about 90 percent of people with the characteristic features of Shwachman-Diamond syndrome. This gene provides instructions for making a protein whose function is unknown, although it is active in cells throughout the body. Researchers suspect that the SBDS protein may play a role in processing RNA (a molecule that is a chemical cousin of DNA). This protein may also be involved in building ribosomes, which are cellular structures that process the cell's genetic instructions to create proteins. It is unclear how SBDS mutations lead to the major signs and symptoms of Shwachman-Diamond syndrome.[1]

In cases where no SBDS mutation is found, the cause of this disorder is unknown.[1]

Last updated: 8/2/2012

References
  1. Shwachman-Diamond syndrome. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=shwachmandiamondsyndrome.