title: The genetics of Hirschsprung disease.
abstract: Understanding the genetics of Hirschsprung disease will naturally expand our understanding of other neurocristopathies, the enteric nervous system, and autonomic system biology. As other disorders of gastrointestinal motility are investigated, genetics may resolve certain clinical questions. For example, isolated hypoganglionosis without aganglionosis has been reported as a primary cause of intestinal pseudo-obstruction. Is such hypoganglionosis merely a forme-fruste of Hirschsprung disease, or a result from an entirely different pathogenetic mechanism? Can irritable bowel syndrome or severe constipation be related to specific mutations, polymorphisms, or haplotypes? How might an understanding of derangements of the ENS be translated to understanding derangements of the CNS? Clearly, we should anticipate improved prognostication, counseling, and hopefully, therapies with future genetic insights.
authors.affiliation: Children's Hospital of Philadelphia, 34th & Civic Center Boulevard, Philadelphia, PA 19104, USA.
authors.forename: Douglas R
authors.initials: DR
authors.lastname: Stewart
authors.forename: Daniel
authors.initials: D
authors.lastname: von Allmen
mesh_terms: D020022:Genetic Predisposition to Disease / Q000235:genetics; D006627:Hirschsprung Disease / Q000145:classification / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics / Q000502:physiology; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics / Q000502:physiology; D044023:Receptor, Endothelin B / Q000235:genetics / Q000502:physiology; D015398:Signal Transduction / Q000235:genetics / Q000502:physiology
chemical_list: D011518:Proto-Oncogene Proteins; D044023:Receptor, Endothelin B; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases