Disease Specific information

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 …
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 …
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 …
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: 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, …
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 …
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 …
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) …
Congenital portosystemic shunts
For more information visit IRCPSS. …
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
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 in liver disease

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Metabolic, Biliary Atresia & Related Diseases
Acute Liver Failure
Watch here a short educational video on Acute Liver Failure (ALF):  …
Transplantation

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Tips

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Clinical practice guidelines

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