Examples of registries for rare liver diseases
| Rare liver disease | Registry | Countries | Patients identified |
|---|---|---|---|
| Polycystic liver disease | PLD registry | 4 | 725 |
| ELTR | 27 | 58 | |
| Primary biliary cholangitis (PBC) | UK-PBC | 1 | 6,040 |
| Global PBC database | 13 | >6,000 | |
| French Observatory of Primary Biliary Cirrhosis | 1 | N/A | |
| Primary sclerosing cholangitis (PSC) | UK-PSC | 1 | Nearly 2,500 |
| IPSCSG | 22 | 992 | |
| French Observatory of Primary Sclerosing Cholangitis | 1 | 150 | |
| Autoimmune hepatitis | UK-AIH | 1 | 1,616 |
| ELTR | 27 | 827 | |
| Wilson disease | EuroWilson | 22 | 546 |
| Bulgarian National Registry of Patients with Wilson Disease | 1 | 162 | |
| GeNeMove: German database for Wilson disease | 1 | N/A | |
| Acute liver failure | ELTR | 27 | 4,903 |
| EMO-ALF STUDY | N/I | N/I | |
| Erythropoietic porphyrias | ELTR | 27 | 31 |
| European Porphyria Registry (EPR) | 11 | 335 | |
| Norwegian Porphyria Registry | 1 | 680 | |
| Caroli's disease | ELTR | 27 | 110 |
| HHT | ELTR | 27 | 40 |
| Hepatitis delta | Hepatitis Delta Registry and Research Network | 10 | Aim 1,000 |
| Autoimmune pancreatitis | IgG4-RD Registry | 1 | 500 |
| Vascular liver disease | VALDIG registry | 19 | N/I |
| REHEVASC: Spanish registry for hepatic vascular diseases | 1 | >450 | |
| Alpha-1-antitrypsin deficiency | Alpha 1 International Registry (AIR) | 27 | 5,000 |
| Portuguese registry for alpha-1 antitrypsin deficiency | 1 | 1,684 | |
| Biliary atresia | EBAR registry | 22 | 514 |
| French observatory of biliary atresia | 1 | 743 | |
| Romanian biliary atresia registry | 1 | N/I | |
| Haemochromatosis (rare forms including aceruloplasminaemia) | French registry of iron overload genetic rare diseases, non-related to the HFE gene | 1 | 1,085 |
| Cholangiocarcinoma | The European Network for the Study of Cholangiocarcinoma (ENS-CCA) | 15 | 1,820 |
| Hepatic angiosarcoma | The British Hepatic Angiosarcoma Register | 1 | 88 |
Does not include isolated regional general rare disease registries and cancer registries, eg the International Perihilar Cholangiocarcinoma International Registry; AIH = autoimmune hepatitis; EBAR = European Biliary Atresia Registry; ELTR = European Liver Transplant Registry; EMO-ALF = European study of the Epidemiology, Management and Outcome of Acute Liver Failure; IgG4-RD = immunoglobulin-G4-related disease; IPSCSG = International Primary Sclerosing Cholangitis Group; N/I = not identified; PBC = primary biliary cholangitis (formerly cirrhosis); PLD = polycystic liver disease; PSC = primary sclerosing cholangitis; REHEVASC = Registro de Enfermedades Hepáticas Vasculares; VALDIG = Vascular Liver Disease Group.