Table 1

Genes associated with intestinal aganglionosis

Gene	Product	Species	Transmission	Frequency in Hirschsprung patients	Ref1-150
RET	Co-receptor for GDNF	Mo, Hu	AD	20–25% (40–70% in long segment)	Chakravarti⁵
GDNF	Ligand for RET	Mo, Hu	AD	Unknown, but probably rare	Hofstraet al ⁶
GFRα1	Co-receptor for GDNF	Mo	AR (mouse)	Not significant in humans	Angrist et al,⁷ Myers et al ⁸
NTN	Ligand for RET	Hu	AD?	Single family reported	Doray et al ⁹
EDNRB	Receptor for ET3	Mo, Ra,Hu	AD or AR	5–10%	Angrist et al ⁷
EDN3	Ligand for ETB	Mo, Hu	AD or AR	5–10%	Angristet al ⁷
ECE-1	ET3 converting enzyme	Mo, Hu	AR	Rare	Hofstraet al 10
Sox10	Transcription factor	Mo, Hu	AD	<5% (limited data available)	Pingault et al 11

↵1-150 See main reference list.