Hirschsprung disease


What gene change causes 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. There are up to 12 different genes that are associated with isolated Hirschsprung disease, (Hirschsprung disease that is found on it's own and not part of a larger condition). These genes include RET, GDNF, NRTN, EDN3, EDNRB, ECE1, NRG1, NRG3, SEMA3C, and SEMA3D. Mutations in the RET gene are the most common cause of isolated Hirschsprung disease. RET gene mutations, or changes, cause Hirschsprung disease in a short part of the colon. In order to learn more about genetic testing for Hirschsprung disease speak with your child's physician about genetic testing or ask to be referred to a genetic counselor.



"RET" Genetics Home Reference. Aug. 2013. http://ghr.nlm.nih.gov/gene/RET

Wesson, David. "Congenital aganglionic megacolon (Hirschsprung disease)" UpToDate. May 2016. Web. 14 Jun. 2016. http://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease?source=search_result&search=Hirschsprung%E2%80%99s+Disease&selectedTitle=1~66

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