Other Names for this Disease
- Congenital lipomatosis of pancreas
- Lipomatosis of pancreas, congenital
- Pancreatic insufficiency and bone marrow dysfunction
- Shwachman syndrome
Your QuestionIf one child has Shwachman-Diamond syndrome, will the second child have it as well if the parents are the same?
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Questions on this page
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.
In cases where no SBDS mutation is found, the cause of this disorder is unknown.
The mode or type of inheritance of Shwachman-Diamond syndrome in individuals without an identified SBDS mutation is unknown.
The following online resources can help you find a genetics professional in your community:
- GeneTests offers a searchable directory of U.S. and international genetics and prenatal diagnosis clinics.
- The National Society of Genetic Counselors provides a database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty.
- The University of Kansas Medical Center provides a list of links to genetic centers and clinics, associations, and university genetics departments.
- The American College of Medical Genetics has a Genetics Clinics Database for individuals who wish to locate a U.S. genetics center.
- The American Society of Human Genetics is a professional organization of researchers and clinical geneticists. The ASHG maintains a database of its members, some of whom live outside of the United States. Visit the ASHG site if you are interested in obtaining a list of the geneticists in your country, though some may be researchers only and may not offer medical care.
- Shwachman-Diamond syndrome. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=shwachmandiamondsyndrome.
- Rommens JM, Durie PR. Shwachman-Diamond Syndrome. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/books/NBK1756/. Accessed 8/2/2012.