Question: How many people are affected by Hirschsprung disease ?
Answer: Hirschsprung disease occurs in approximately 1 in 5,000 newborns.
Source: GHR

Question: What are the genetic changes related to Hirschsprung disease ?
Answer: Isolated Hirschsprung disease can result from mutations in one of several genes, including the RET, EDNRB, and EDN3 genes. However, the genetics of this condition appear complex and are not completely understood. While a mutation in a single gene sometimes causes the condition, mutations in multiple genes may be required in some cases. The genetic cause of the condition is unknown in approximately half of affected individuals. Mutations in the RET gene are the most common known genetic cause of Hirschsprung disease. The RET gene provides instructions for producing a protein that is involved in signaling within cells. This protein appears to be essential for the normal development of several kinds of nerve cells, including nerves in the intestine. Mutations in the RET gene that cause Hirschsprung disease result in a nonfunctional version of the RET protein that cannot transmit signals within cells. Without RET protein signaling, enteric nerves do not develop properly. Absence of these nerves leads to the intestinal problems characteristic of Hirschsprung disease. The EDNRB gene provides instructions for making a protein called endothelin receptor type B. When this protein interacts with other proteins called endothelins, it transmits information from outside the cell to inside the cell, signaling for many important cellular processes. The EDN3 gene provides instructions for a protein called endothelin 3, one of the endothelins that interacts with endothelin receptor type B. Together, endothelin 3 and endothelin receptor type B play an important role in the normal formation of enteric nerves. Changes in either the EDNRB gene or the EDN3 gene disrupt the normal functioning of the endothelin receptor type B or the endothelin 3 protein, preventing them from transmitting signals important for the development of enteric nerves. As a result, these nerves do not form normally during embryonic development. A lack of enteric nerves prevents stool from being moved through the intestine, leading to severe constipation and intestinal blockage.
Source: GHR

Question: Is Hirschsprung disease inherited ?
Answer: Approximately 20 percent of cases of Hirschsprung disease occur in multiple members of the same family. The remainder of cases occur in people with no history of the disorder in their families. Hirschsprung disease appears to have a dominant pattern of inheritance, which means one copy of the altered gene in each cell may be sufficient to cause the disorder. The inheritance is considered to have incomplete penetrance because not everyone who inherits the altered gene from a parent develops Hirschsprung disease.
Source: GHR

Question: What are the treatments for Hirschsprung disease ?
Answer: These resources address the diagnosis or management of Hirschsprung disease: - Cedars-Sinai: Treating Hirschsprung's Disease (Colonic Aganglionosis) - Gene Review: Gene Review: Hirschsprung Disease Overview - Genetic Testing Registry: Hirschsprung disease 1 - Genetic Testing Registry: Hirschsprung disease 2 - Genetic Testing Registry: Hirschsprung disease 3 - Genetic Testing Registry: Hirschsprung disease 4 - North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition: Hirschsprung's Disease - Seattle Children's: Hirschsprung's Disease: Symptoms and Diagnosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR