Other Names for this Disease
- Congenital lipomatosis of pancreas
- Lipomatosis of pancreas, congenital
- Pancreatic insufficiency and bone marrow dysfunction
- Shwachman-Bodian 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.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide 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.