Cholangiocarcinoma, Susceptibility To |
|
Cholangiocarcinoma |
OMIM:615619 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Portal inflamm... |
OMIM:600803 |
Biliary Atresia, Extrahepatic |
|
Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Jaundice, Elevated hepatic tra... |
OMIM:210500 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... |
OMIM:616217 |
Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... |
OMIM:617394 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... |
OMIM:602347 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice... |
ORPHA:79302 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... |
OMIM:613812 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... |
OMIM:619662 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... |
OMIM:613027 |
Meckel Syndrome, Type 3 |
|
Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly |
OMIM:607361 |
Hyperbiliverdinemia |
|
Decreased liver function, Cholestasis, Cholelithiasis |
OMIM:614156 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
North American Indian Childhood Cirrhosis |
|
Portal hypertension, Prolonged neonatal jaundice, Biliary cirrhosis |
OMIM:604901 |
Disorder Of Bile Acid Synthesis |
|
Elevated hepatic transaminase, Abnormality of the liver, Cholestasis, Biliary tract abnormality |
ORPHA:79168 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Intrahepatic biliary atresia, Hepatic fibrosis, Hepatic failure, Sclerosing cholangitis, Jaundice... |
OMIM:607626 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... |
ORPHA:567983 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Jaundice, Elevated hepatic transaminase, Hyp... |
ORPHA:30391 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Jaundice, Cholelithiasis, Hepatomegaly, Intrahepatic cholestasis |
OMIM:605479 |
Congenital Respiratory-Biliary Fistula |
|
Abnormality of the liver |
ORPHA:2040 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cirrhosis, Jaundice, Hepatocellular carcinoma, Elevated hepatic transaminase, Ach... |
ORPHA:65682 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Polysplenia, Malforma... |
OMIM:208540 |
Low Phospholipid-Associated Cholelithiasis |
|
Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c... |
ORPHA:69663 |
Caroli Syndrome |
|
Cirrhosis, Hepatic failure, Periportal fibrosis, Liver abscess, Hypersplenism, Jaundice, Cholangi... |
ORPHA:480520 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cirrhosis, Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Elevated hepat... |
ORPHA:562639 |
Mirizzi Syndrome |
|
Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Cholelithiasis, Abnormality of t... |
ORPHA:521219 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Hepatic cysts, Cystic liver disease |
OMIM:612284 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation |
OMIM:611561 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Biliary cirrhosis, Hepatosplenomegaly, Bile duct proliferation, Cholestasis, Po... |
OMIM:267010 |
Autosomal Erythropoietic Protoporphyria |
|
Decreased liver function, Cirrhosis, Cholelithiasis |
ORPHA:79278 |
Joubert Syndrome 6 |
|
Hepatic fibrosis, Bile duct proliferation |
OMIM:610688 |
Dubin-Johnson Syndrome |
|
Jaundice, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly |
ORPHA:234 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Pigment gallstones, Cholelithiasis |
OMIM:613470 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis |
ORPHA:438274 |
Alpha-Thalassemia |
|
Splenomegaly, Hypersplenism, Jaundice, Cholelithiasis |
ORPHA:846 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation |
OMIM:603194 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... |
OMIM:211600 |
Protoporphyria, Erythropoietic, 1 |
|
Hepatic failure, Cholelithiasis |
OMIM:177000 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis |
OMIM:235700 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Cholelithiasis |
ORPHA:309108 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation |
OMIM:611134 |
Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:182900 |
Hardikar Syndrome |
|
Hepatic fibrosis, Cirrhosis, Hepatic failure, Prolonged neonatal jaundice, Hypersplenism, Jaundic... |
OMIM:301068 |
Autosomal Recessive Polycystic Kidney Disease |
|
Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Periportal fibrosis, Hypersplenism, Jaun... |
ORPHA:731 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Bile duct proliferation, Elevated hepatic transaminase, Macrovesicular ... |
OMIM:618329 |
Caroli Disease |
|
Hepatic fibrosis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration,... |
ORPHA:53035 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic cysts, Hepatic fibrosis, Jaundice, Polycystic liver disease, Bile duct proliferation, ... |
OMIM:208500 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatic steatosis, Bile duct proliferation, Cholestasis, Hepatomeg... |
OMIM:261515 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transaminase, Micro... |
OMIM:203700 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Macro... |
ORPHA:209902 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Jaundice, Cholecystitis, Hepatomegaly, Cholelithiasis |
OMIM:266200 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Annular pancreas, Hypoplasia of the gallbladder, Extrahepatic biliary duct... |
OMIM:601346 |
Glycogen Storage Disease Vii |
|
Jaundice, Cholelithiasis |
OMIM:232800 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Splenomegaly, Hepatitis, Jaundice, Hepatomegaly, Cholelithiasis |
OMIM:194380 |
Cranioectodermal Dysplasia 2 |
|
Biliary cirrhosis, Polysplenia, Elevated hepatic transaminase, Portal fibrosis, Cholangitis, Bile... |
OMIM:613610 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Cirrhosis, Abnormality of the liver, Jaundice, Hepatocellular carcinoma, Hepatosp... |
ORPHA:231222 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Bile duct proliferation, Cholestasis... |
OMIM:613658 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating alanine aminotransferase concentration, Increased hepatic echogenicity, Elev... |
OMIM:619525 |
Liver Disease, Severe Congenital |
|
Pancreatic hypoplasia, Hepatic failure, Biliary hyperplasia, Jaundice, Abnormal hepatic echogenic... |
OMIM:619991 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Hepatitis, Abnormality of the ductus choledochus, Peritoneal abscess, Hypoplasia of the thymus |
ORPHA:436252 |
Meckel Syndrome, Type 1 |
|
Asplenia, Malformation of the hepatic ductal plate, Bile duct proliferation, Accessory spleen, Cr... |
OMIM:249000 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Biliary hyperplasia, Hepatomegaly, Cryptorchidism, Cholelithiasis |
ORPHA:83617 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Biliary cirrhosis,... |
OMIM:619534 |
Primary Sclerosing Cholangitis |
|
Hepatic fibrosis, Cirrhosis, Hepatitis, Jaundice, Pancreatitis, Cholangiocarcinoma, Elevated hepa... |
ORPHA:171 |
Ppoma |
|
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... |
ORPHA:97278 |
Sickle Cell Disease |
|
Splenic infarction, Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly |
OMIM:603903 |
Metachromatic Leukodystrophy |
|
Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobilia |
ORPHA:512 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Cyst of the ductus choledochus |
OMIM:619480 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cyst of the ductus choledochus, Hypoplastic nipples |
ORPHA:480880 |