SE-ATLAS

Erythrocyte galactose epimerase deficiency Nodular regenerative hyperplasia of the liver Infantile Refsum disease Cerebrotendinous xanthomatosis Autoimmune hepatitis Glycogen storage disease due to glucose-6-phosphatase deficiency Transient infantile hypertriglyceridemia and hepatosteatosis Hepatoportal sclerosis Zellweger syndrome Glycogen storage disease due to glycogen branching enzyme deficiency Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome Glycogen storage disease due to liver glycogen phosphorylase deficiency Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Hemochromatosis type 4 Reynolds syndrome Dubin-Johnson syndrome Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form Bile acid synthesis defect with cholestasis and malabsorption FTH1-related iron overload Low phospholipid-associated cholelithiasis Intrahepatic cholestasis of pregnancy Neonatal ichthyosis-sclerosing cholangitis syndrome Rotor syndrome Generalized galactose epimerase deficiency Isolated biliary atresia Caroli disease Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form Dietary iron overload disease Benign recurrent intrahepatic cholestasis type 1 Inflammatory pseudotumor of the liver Glycogen storage disease due to liver phosphorylase kinase deficiency HJV or HAMP-related hemochromatosis Benign recurrent intrahepatic cholestasis type 2 Congenital bile acid synthesis defect type 4 Crigler-Najjar syndrome type 2 Crigler-Najjar syndrome type 1 Transient familial neonatal hyperbilirubinemia Galactokinase deficiency Classic galactosemia Budd-Chiari syndrome Congenital respiratory-biliary fistula Galactose epimerase deficiency Rare hepatic disease Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Alagille syndrome due to 20p12 microdeletion Biliary atresia with splenic malformation syndrome Hereditary North American Indian childhood cirrhosis Familial intrahepatic cholestasis Bile acid CoA ligase deficiency and defective amidation Fulminant viral hepatitis Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Idiopathic copper-associated cirrhosis Hepatic veno-occlusive disease-immunodeficiency syndrome Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a NOTCH2 point mutation Primary sclerosing cholangitis Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Primitive portal vein thrombosis Progressive familial intrahepatic cholestasis Neonatal hemochromatosis Cystic fibrosis Acute fatty liver of pregnancy Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Fanconi-Bickel syndrome Neonatal adrenoleukodystrophy Mitochondrial DNA depletion syndrome, hepatocerebrorenal form Primary biliary cholangitis Cholestasis-lymphedema syndrome Rare vascular liver disease Alagille syndrome CADDS Rare metabolic liver disease Growth retardation-mild developmental delay-chronic hepatitis syndrome Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Rare parenchymal liver disease Syndrome d'insuffisance hépatique aiguë infantile-manifestations multisystémiques Déficit congénital de synthèse des acides biliaires type 1 Maladie rare des voies biliaires Syndrome de déficit en stéroïde déshydrogénase-anomalies dentaires Déficit congénital de synthèse des acides biliaires type 2 Déficit en alpha-1-antitrypsine Polykystose hépatique isolée Hépatoencéphalopathie par déficit combiné de la phosphorylation oxydative de type 1 Intolérance au fructose héréditaire Déficit congénital de synthèse des acides biliaires type 3 Cholestase intrahépatique familiale progressive type 3 Cholestase intrahépatique familiale progressive type 2 Nodule nécrotique solitaire du foie Tyrosinémie type 1 Cholestase intrahépatique familiale progressive type 1 Hypercholanémie familiale Syndrome de Crigler-Najjar Maladie veino-occlusive hépatique Hyperbiliverdinémie Hémochromatose associée à TFR2 Galactosémie Cholestase intrahépatique récurrente bénigne Hémochromatose héréditaire rare Cardiomyopathie cirrhotique Anomalie de la biogenèse du péroxysome Maladie des corps de polyglucosane de l'adulte Maladie de Wilson Hypertension pulmonaire rare Hypertension artérielle pulmonaire héréditaire Hypertension artérielle pulmonaire