RGDs registry under the 'Liver disorders'
| Disorder Name (Total=4) | Aliases | Sub-Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Alagille syndrome Autosomal dominant |
Biliary tract disorders |
JAG1 jagged canonical Notch ligand 1 NOTCH2 notch receptor 2 |
Reports Updated as of Sep 15, 2022 |
PubMed | |
| Primary biliary cholangitis |
•Familial primary biliary cirrhosis •Hanot syndrome •Primary biliary cirrhosis |
Biliary tract disorders |
TJP2 tight junction protein 2 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Primary sclerosing cholangitis |
•PSC |
Biliary tract disorders |
Snhg10 small nucleolar RNA host gene 10 SEMA4D semaphorin 4D GPR35 G protein-coupled receptor 35 STK4 serine/threonine kinase 4 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Progressive familial intrahepatic cholestasis type 2 Autosomal recessive |
•ABCB11 progressive familial intrahepatic cholestasis •BSEP (bile salt export pump) deficiency •BSEP deficiency •cholestasis, progressive familial intrahepatic 2 •cholestasis, progressive familial intrahepatic, type 2 •PFIC2 •PFIC2 - progressive familial intrahepatic cholestasis type 2 •progressive familial intrahepatic cholestasis caused by mutation in abcb11 •Cholestasis, progressive familial intrahepatic 2 •PFIC2 Progressive familial intrahepatic cholestasis type 2 •Progressive familial intrahepatic cholestasis 2 |
Biliary tract disorders |
ABCB11 ATP binding cassette subfamily B member 11 |
Reports Updated as of Jan 05, 2026 |
PubMed |