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.