Autoimmune Liver Diseases (AILD)

  • Autoimmune Hepatitis (AIH)

    Autoimmune Hepatitis (AIH) is a chronic liver disease characterised by increased serum transaminases and immunoglobulin G, circulating autoantibodies and infiltration of immune cells on liver histology. Its pathogenesis is largely unknown, but an autoimmune reaction directed against hepatocytes is assumed.…
  • Primary Biliary Cholangitis (PBC)

    Primary Biliary Cholangitis, formerly Primary Biliary Cirrhosis…
  • Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome

  • Sclerosing cholangitis

    • IgG4-related sclerosing cholangitis

    • Isolated neonatal sclerosing cholangitis

    • Primary sclerosing cholangitis (PSC)

      PSC is a chronic cholestatic hepatobiliary disease that has an incidence of approximately 1 case per 100,000 persons/year. Two-third of patients are male, and of middle-age. The pathogenesis is not well understood, although immunological mechanisms and the gut-liver axis seems…
    • Secondary sclerosing cholangitis

Metabolic, Biliary Atresia & Related Diseases

  • Alpha-1-antitrypsin deficiency (AATD)

    AATD is a common inherited genetic condition that increases the risk of lung and liver disease. The prevalence of the severe forms is approximately 1 in 2500 individuals. The disease results from a mutation leading to the production of a…
  • Biliary Atresia

    ERN RARE-LIVER covers the following subtypes: Isolated Biliary Atresia Biliary atresia with splenic malformation syndrome…
  • Genetic Cholestatic Disease

    Watch here a short educational video on Neonatal Cholestasis: Short educational video on MDR3 deficiency and cholestatic liver diseases:…
    • Alagille Syndrome

    • Congenital bile acid synthesis defect

    • Crigler-Najjar syndrome

    • Disorder of porphyrin and heme metabolism, Bilirubin metabolism disorder

    • Dubin-Johnson syndrome

    • Progressive familial intrahepatic cholestasis (PFIC)

    • Rotor syndrome

  • Wilson Disease

    Wilson disease (WD) is a rare autosomal recessive genetic disorder of hepatic copper metabolism. In WD the biliary copper excretion is impaired leading to is accumulation, primary in the liver, and then, when the liver’s capacity for copper storage is…

Structural Liver Disease

  • Biliary Malformations

    • Caroli Disease

    • Choledochal Cyst

  • Polycystic Liver Disease (PLD)/ Congenital Fibrosis

    Polycystic liver disease (PLD) is characterized by the formation of fluid-filled cysts throughout the liver. It can occur as an isolated form in autosomal dominant polycystic liver disease (ADPLD), which was formerly abbreviated as polycystic liver disease (PCLD). It can…
  • Rare liver tumours

    • Fibrolamellar hepatocarcinoma

    • Hepatic epitheloid hemangioendothelioma & Angiosarcoma

    • Hepatobiliary tumors with stem cell features & mixed types (CCA/HCC)

    • Hepatoblastoma

    • Intrahepatic Cholangiocarcinoma

    • Pediatric hepatocellular carcinoma

    • Primary hepatic neuroendocrine tumors (NET)

    • Squamous cell carcinoma of liver and intrahepatic biliary tract

    • Undifferentiated carcinoma of liver and intrahepatic biliary tract

  • Vascular Liver Disease

    Vascular liver diseases are disorders of the hepatic vasculature that lead to obstruction of blood vessels in and near the liver. Watch here our educational video on how to manage vascular liver diseases: Short educational video on Porto-sinusoidal vascular disease…
    • Budd-Chiari-Syndrome

      Vascular liver diseases (VLD) are rare diseases characterized by a primary involvement of the hepatic veins (Budd-Chiari syndrome: BCS, ORPHA 131), the portal system (Portal vein thrombosis: PVT, ORPHA 854) with respective prevalence for BCS and PVT in Europe of…
    • Early-onset familial non-cirrhotic portal hypertension

    • Nodular regenerative hyperplasia of the liver

    • Porto-sinusoidal vascular disease (PSVD)

    • Sinusoidal obstruction syndrome (SOS) / Hepatic veno-occlusive disease

Pregnancy in liver disease

Liver disease in pregnancy

  • General information

    This theme will focus on data acquisition and development of guidelines for management of rare gestational liver diseases (acute fatty liver of pregnancy; HELLP syndrome; severe, early-onset intrahepatic cholestasis of pregnancy) and pregnancy in women with rare liver diseases (cirrhosis…

Rare causes of acute liver failure

  • Acute Liver Failure

    Watch here a short educational video on Acute Liver Failure (ALF):…


Clinical practice guidelines

Please click here to view clinical practice guidelines for the diseases covered by ERN RARE-LIVER.