se-atlas

Mapping of Health Care Providers
for People with Rare Diseases


In the following you will find the diseases that are treated in this facility:
Acute fatty liver of pregnancy Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Acute infantile liver failure-multisystemic involvement syndrome Adult polyglucosan body disease African iron overload Alagille syndrome Alagille syndrome due to 20p12 microdeletion Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a NOTCH2 point mutation Alpha-1-antitrypsin deficiency Autoimmune hepatitis Benign recurrent intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 1 Benign recurrent intrahepatic cholestasis type 2 Bile acid CoA ligase deficiency and defective amidation Bile acid synthesis defect with cholestasis and malabsorption Biliary atresia with splenic malformation syndrome Budd-Chiari syndrome CADDS Caroli disease Cerebrotendinous xanthomatosis Cholestasis-lymphedema syndrome Cirrhotic cardiomyopathy Classic galactosemia Congenital bile acid synthesis defect type 1 Congenital bile acid synthesis defect type 2 Congenital bile acid synthesis defect type 3 Congenital bile acid synthesis defect type 4 Congenital bronchobiliary fistula Crigler-Najjar syndrome Crigler-Najjar syndrome type 1 Crigler-Najjar syndrome type 2 Cystic fibrosis Dubin-Johnson syndrome Erythrocyte galactose epimerase deficiency FTH1-related iron overload Familial hypercholanemia Familial intrahepatic cholestasis Fulminant viral hepatitis Galactokinase deficiency Galactose epimerase deficiency Galactosemia Generalized galactose epimerase deficiency Glycogen storage disease due to GLUT2 deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Glycogen storage disease due to liver glycogen phosphorylase deficiency Glycogen storage disease due to liver phosphorylase kinase deficiency Growth retardation-mild developmental delay-chronic hepatitis syndrome Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 Hepatic veno-occlusive disease Hepatic veno-occlusive disease-immunodeficiency syndrome Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Hepatoportal sclerosis Hereditary North American Indian childhood cirrhosis Hereditary fructose intolerance Hyperbiliverdinemia Idiopathic copper-associated cirrhosis IgG4-related hepatopathy Infantile Refsum disease Intrahepatic cholestasis of pregnancy Isolated biliary atresia Isolated polycystic liver disease Low phospholipid associated cholelithiasis Mitochondrial DNA depletion syndrome, hepatocerebrorenal form Neonatal adrenoleukodystrophy Neonatal hemochromatosis Neonatal ichthyosis-sclerosing cholangitis syndrome Nodular regenerative hyperplasia of the liver Peroxisome biogenesis disorder Primary biliary cholangitis Primary sclerosing cholangitis Primitive portal vein thrombosis Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 3 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome Rare biliary tract disease Rare hepatic disease Rare hereditary hemochromatosis Rare metabolic liver disease Rare parenchymal liver disease Rare vascular liver disease Reynolds syndrome Rotor syndrome Solitary necrotic nodule of the liver Steroid dehydrogenase deficiency-dental anomalies syndrome Transient familial neonatal hyperbilirubinemia Transient infantile hypertriglyceridemia and hepatosteatosis Tyrosinemia type 1 Wilson disease Zellweger syndrome