SE-ATLAS

Déficit érythrocytaire en galactose épimérase Hyperplasie nodulaire régénérative du foie Maladie de Refsum infantile Xanthomatose cérébrotendineuse Hépatite auto-immune Glycogénose par déficit en glucose-6-phosphatase Hypertriglycéridémie transitoire et stéatose hépatique du nourrisson Veinopathie portale oblitérante Syndrome de Zellweger Glycogénose par déficit en enzyme branchante Syndrome de fibrose pulmonaire-hyperplasie hépatique-hypoplasie de la moelle osseuse Glycogénose par déficit en phosphorylase hépatique Insuffisance hépatique infantile aiguë par défaut de synthèse des protéines codées par l'ADNmt Hémochromatose type 4 Syndrome de Reynolds Syndrome de Dubin-Johnson Glycogénose par déficit en enzyme branchante, forme hépatique progressive Défaut de synthèse des acides biliaires avec cholestase et malabsorption Surcharge en fer liée à FTH1 Lithiase biliaire à faible niveau de phospholipides Cholestase intrahépatique gestationnelle Syndrome néonatal d'ichtyose-cholangite sclérosante Syndrome de Rotor Déficit généralisé en galactose épimérase Atrésie des voies biliaires isolée Maladie de Caroli Glycogénose par déficit en enzyme branchante, forme hépatique non progressive 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 Acute infantile liver failure-multisystemic involvement syndrome Congenital bile acid synthesis defect type 1 Rare biliary tract disease Steroid dehydrogenase deficiency-dental anomalies syndrome Congenital bile acid synthesis defect type 2 Alpha-1-antitrypsin deficiency Isolated polycystic liver disease Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Hereditary fructose intolerance Congenital bile acid synthesis defect type 3 Progressive familial intrahepatic cholestasis type 3 Progressive familial intrahepatic cholestasis type 2 Solitary necrotic nodule of the liver Tyrosinemia type 1 Progressive familial intrahepatic cholestasis type 1 Familial hypercholanemia Crigler-Najjar syndrome Hepatic veno-occlusive disease Hyperbiliverdinemia TFR2-related hemochromatosis Galactosemia Benign recurrent intrahepatic cholestasis Rare hereditary hemochromatosis Cirrhotic cardiomyopathy Peroxisome biogenesis disorder Adult polyglucosan body disease Wilson disease Rare pulmonary hypertension Heritable pulmonary arterial hypertension Pulmonary arterial hypertension