Genes associated with
Hirschsprung’s disease
•Phox2b: Transcription factor expressed by the most primitive of the crest-derived cells that colonize the
gut.
•Sox10: Transcription factor:
required early in development.
•Ret, its co-receptors, and ligands:
Receptor tyrosine kinase
activated first by GDNF, and then NTN.
•EDN3 and EDNRB: collaborates with Ret and needed by non-crest-derived cells of colon
•SIF1: Encodes Smad protein,
involved in BMP signaling
