Selected genetic diseases in gastroenterology and hepatology
| Diseases | Gene | References |
|---|---|---|
| Cholestatic liver diseases | 21 | |
| Byler’s disease, Summerskill syndrome | FIC1 | |
| Progressive familial intrahepatic cholestasis-2 | ABCB11 | |
| Progressive familial intrahepatic cholestasis-3 | ABCB4 | |
| Dubin-Johnson syndrome | ABCB2 | |
| Hepatic storage diseases | ||
| Wilson disease | ATP7B | 22 |
| Haemochromatosis | HFE | 23 |
| Colon cancer | 24 | |
| Familial polyposis coli | APC | 25 |
| Hereditary non-polyposis colon cancer | MSH2, MLH1 | 26, 27 |
| Peutz-Jegher syndrome | STK11 | 28 |
| Idiopathic pancreatitis | ||
| Cystic fibrosis | CFTR | 2 |
| Hereditary pancreatitis | Trypsinogen, SPINK | 29, 30 |
| Crohn’s disease | NOD2 | 31, 32 |