Multiple endocrine neoplasia type 2B and Hirschsprung's disease.
Multiple endocrine neoplasia type 2B and Hirschsprung's disease are genetic disorders characterized by gross and/or microscopic pathology of the enteric nervous system and associated dysmotility. A specific missense mutation in the RET proto-oncogene is the etiology of multiple endocrine neoplasia type B, in contrast to very complex multigenetic defects that underlie Hirschsprung's disease, which include overt mutations and more subtle changes in the RET locus. In this review, the molecular genetics of the 2 conditions are discussed, and the clinical implications of existing data and future studies are summarized.
Kapur
Raj P
RP
Department of Pathology, Children's Hospital and Regional Medical Center and University of Washington, Seattle, 91805, USA. raj.kapur@seattlechildrens.org
D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006627:Hirschsprung Disease / Q000235:genetics* / Q000628:therapy; D006801:Humans; D018814:Multiple Endocrine Neoplasia Type 2b / Q000235:genetics* / Q000628:therapy; D009154:Mutation; D015513:Oncogene Proteins / Q000235:genetics; D010641:Phenotype; D011110:Polymorphism, Genetic; D011379:Prognosis; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics
C000715470:MAS1 protein, human; D015513:Oncogene Proteins; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human; D020794:Receptor Protein-Tyrosine Kinases