Hirschsprung disease

Causes

Is there a predisposition or a cause for Hirschsprung disease?

Genes are the basic unit of heredity. Genes are made of DNA and are instructions to make proteins and molecules inside the cells that make up the body. Changes or mutations in genes associated with Hirschsprung's disease cause the condition, but not all people with a gene or mutation change will have Hirschsprung disease. The genes associated with causing isolated Hirschsprung's disease, Hirschsprung's disease that is not part of a larger syndrome, are RET, GDNF, NRTN, EDN3, EDNRB, ECE1, NRG1, NRG3, SEMA3C, and SEMA3D. Most often the gene changes or mutations are seen in the RET gene.

The genetics of Hirschsprung's disease likely are complicated. In some cases Hirschsprung disease may be caused by a single gene change or mutation, but in other cases it is believed that there are several genes working together to cause Hirschsprung's disease and no single gene change can be identified.

If you are concerned that you or your child may have a predisposition for Hisrschsprung disease speak with your physician about this risk, or ask to be referred to a genetic counselor to discuss genetic testing. You can locate a genetic counselor in your area by using the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

"Hirschsprung’s Disease" National Organization for Rare Disorders. 2005. https://rarediseases.org/rare-diseases/hirschsprungs-disease/#standard-therapies

"Hirschsprung Disease" Genetics Home Reference. Aug. 2012. Web. 14 Jun. 2016. https://ghr.nlm.nih.gov/condition/hirschsprung-disease#genes

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