Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... |
ORPHA:65682 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration |
OMIM:300752 |
Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology |
ORPHA:438274 |
Hyperbiliverdinemia |
|
Cholestasis, Cholelithiasis, Decreased liver function |
OMIM:614156 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Cholelithiasis, Splenomegaly |
OMIM:224100 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatic cysts, Hepatosplenomegaly, Eosinophilic liver infiltration, Failure to thrive |
OMIM:618999 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts, Decreased liver function |
OMIM:600666 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice |
OMIM:605479 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodi... |
OMIM:211600 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Cirrhosis, Decreased liver function |
ORPHA:79278 |
Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... |
OMIM:210500 |
Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr... |
ORPHA:400 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice |
OMIM:613470 |
Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... |
ORPHA:53035 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... |
OMIM:615415 |
Meckel Syndrome, Type 6 |
|
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Renal cyst, Bile duct proliferation, Cystic ... |
OMIM:612284 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure |
OMIM:177000 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:618061 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Hepatic cysts |
OMIM:613819 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
Nephronophthisis 13 |
|
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:614377 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormal liver parenchyma morphology, Abnormality of the pancreas, ... |
ORPHA:3032 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Multiple renal cysts, Polycystic liver disease, Abnormality of the pancreas |
ORPHA:2924 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:173900 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts |
OMIM:616307 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Renal cyst, Polycystic liver disease |
OMIM:174050 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Cholelithiasis |
ORPHA:309108 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis |
OMIM:235700 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated circulating hepatic transaminase concentration, Ascites, Hepatic cysts, Intermittent jau... |
ORPHA:100085 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Portal hypertension,... |
OMIM:263200 |
Spherocytosis, Type 1 |
|
Jaundice, Cholelithiasis, Splenomegaly |
OMIM:182900 |
Polysyndactyly With Cardiac Malformation |
|
Renal cyst, Hepatic cysts |
OMIM:263630 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Multiple renal cysts, Hepatomegaly, Jaundice, Polycystic kidney dysplasia |
OMIM:613095 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Cholelithiasis, Hepatitis |
ORPHA:848 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston... |
ORPHA:209902 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Jaundice |
OMIM:266200 |
Alveolar Echinococcosis |
|
Biliary cirrhosis, Decreased liver function, Abnormal mesentery morphology, Portal hypertension, ... |
ORPHA:284 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:194380 |
Mirizzi Syndrome |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, Gallbladde... |
ORPHA:521219 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Cholelithiasis, Weight loss |
ORPHA:171876 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... |
ORPHA:79095 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Abnormality of the liver, Splenomeg... |
ORPHA:231222 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... |
ORPHA:79301 |
Isolated Biliary Atresia |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... |
ORPHA:30391 |
Sialuria |
|
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Cholel... |
ORPHA:3166 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis |
OMIM:160900 |
Combined Oxidative Phosphorylation Deficiency 59 |
|
Cholelithiasis, Failure to thrive |
OMIM:620646 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure, Decreas... |
OMIM:614886 |
Primary Sclerosing Cholangitis |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepati... |
ORPHA:171 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease, Polysplenia |
OMIM:211890 |
Glycogen Storage Disease Vii |
|
Jaundice, Cholelithiasis |
OMIM:232800 |
Ppoma |
|
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Abnormal abdomen morphology, Increas... |
ORPHA:97278 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Hepatic cysts, Renal cyst, Pancreatic cysts, Polycystic li... |
ORPHA:730 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... |
OMIM:617394 |
Axial Osteomalacia |
|
Renal cyst, Polycystic liver disease |
OMIM:109130 |
Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice |
OMIM:603903 |
Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Hypersplenism, ... |
ORPHA:77259 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... |
OMIM:602347 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Small for gestational age |
OMIM:618775 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Failure to thrive, Cholecystitis, Splenomegaly, Prolonged neonatal jaundice, Jaun... |
OMIM:615512 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, Failure to thrive, Decreased testicular size, Cryptorchidism, Decreased body weight |
OMIM:300534 |
Alpha-Thalassemia |
|
Cholelithiasis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Jaundice |
ORPHA:846 |
Cimdag Syndrome |
|
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis |
OMIM:619273 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Hepatiti... |
OMIM:613812 |
Grfoma |
|
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Abnormal abdomen morphology, Increas... |
ORPHA:97261 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Hepatic cysts |
OMIM:617425 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Cholecystitis, Splenomegaly, Elevated circulating alanine aminotransferase concen... |
OMIM:611881 |
Hereditary Spherocytosis |
|
Hepatomegaly, Jaundice, Cholelithiasis, Splenomegaly |
ORPHA:822 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas... |
ORPHA:90003 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Asplenia, Cholelithiasis, Chronic active hepatitis |
OMIM:240300 |
Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice |
ORPHA:3202 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... |
ORPHA:64743 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... |
ORPHA:79302 |
Hereditary Elliptocytosis |
|
Prolonged neonatal jaundice, Jaundice, Cholelithiasis, Splenomegaly |
ORPHA:288 |
Martinez-Frias Syndrome |
|
Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal... |
OMIM:601346 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Absent gallbladder, Biliary atresi... |
OMIM:615710 |
Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Decreased liver function, Exocrine pancreatic insufficiency, Splenomegaly, Decrea... |
OMIM:618268 |
Medullary Thyroid Carcinoma |
|
Pheochromocytoma, Weight loss, Abnormal liver parenchyma morphology, Nodular goiter, Primary hype... |
ORPHA:1332 |
Alg9-Cdg |
|
Periportal fibrosis, Hepatic cysts, Hypoplastic nipples, Hypoplasia of the ovary, Hepatomegaly, E... |
ORPHA:79328 |
Orofaciodigital Syndrome I |
|
Hepatic fibrosis, Hepatic cysts, Ovarian cyst, Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:311200 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619662 |
Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Pigment gallstones, Abnormality of the spleen, Jaundice |
ORPHA:232 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... |
OMIM:603471 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Cranioectodermal Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, Hepatic cysts, Hepat... |
OMIM:218330 |
Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom... |
OMIM:607361 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cholelithiasis, Obesity, Hepatosplenomegaly, Cholecystitis, Hepatomegaly |
OMIM:301066 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis |
OMIM:213700 |
Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... |
OMIM:613027 |
Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Jaundice, Cholelithiasis, Splenomegaly |
OMIM:263700 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis |
ORPHA:464738 |
Tuberous Sclerosis Complex |
|
Pituitary adenoma, Pheochromocytoma, Hepatic cysts, Parathyroid hyperplasia, Renal cyst, Parathyr... |
ORPHA:805 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Severe failure to thrive, Cholelithiasis, Annular pancreas |
ORPHA:97297 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Pancreatic hypoplasia, Failure to thrive, Cryptorchidism, Biliary hyperplasia, He... |
ORPHA:83617 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... |
OMIM:607626 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Splenomegaly, Ca... |
ORPHA:2072 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hepatic fibrosis, Renal cyst, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic ... |
OMIM:208500 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Splenomegaly, Neoplasm ... |
ORPHA:77293 |
North American Indian Childhood Cirrhosis |
|
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension |
OMIM:604901 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
OMIM:208085 |
22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Failure to thrive, Obesity, Splenomegaly, Cryptorchidism, Hypoplasia of the thymu... |
ORPHA:567 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... |
ORPHA:79303 |
Gaucher Disease |
|
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Splenomegaly, Cirrhosis, Splenic ... |
ORPHA:355 |
Metachromatic Leukodystrophy |
|
Hemobilia, Neoplasm of the gallbladder, Abnormal gallbladder morphology |
ORPHA:512 |
Distal Duplication 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism |
ORPHA:96097 |
Cerebrotendinous Xanthomatosis |
|
Prolonged neonatal jaundice, Cholelithiasis |
ORPHA:909 |
Lathosterolosis |
|
Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase conce... |
OMIM:607330 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Small for gestational age, Pancreatic aplasia |
ORPHA:556955 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Ascites, Cholecystitis, Intermittent jaundice, Biliary tract obstruction,... |
ORPHA:100086 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver par... |
ORPHA:456312 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hyperten... |
OMIM:267010 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor... |
ORPHA:774 |
Porphyria Cutanea Tarda |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... |
ORPHA:101330 |
Digeorge Syndrome |
|
Cholelithiasis, Parathyroid hypoplasia, Obesity, Splenomegaly, Hepatic steatosis, Ovarian cyst, P... |
OMIM:188400 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Decreased response to gr... |
ORPHA:273 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage, Biliary atresia |
OMIM:615272 |
8P Inverted Duplication/Deletion Syndrome |
|
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism |
ORPHA:96092 |
Meckel Syndrome |
|
Accessory spleen, Multicystic kidney dysplasia, Cryptorchidism, Congenital hepatic fibrosis, Panc... |
ORPHA:564 |
Caroli Syndrome |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
ORPHA:480520 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Meckel Syndrome, Type 5 |
|
Renal cyst, Bile duct proliferation |
OMIM:611561 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
ORPHA:562639 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Pancreatic hypoplasia, Failure to thrive, Exocrine pancreatic insuff... |
ORPHA:2255 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Exocrine pancreatic insufficiency, Absent gallbladder, Elevated circulating alanine aminotransfer... |
OMIM:618500 |
Williams Syndrome |
|
Cholelithiasis, Failure to thrive in infancy, Obesity, Cryptorchidism, Polycystic ovaries, Cardio... |
ORPHA:904 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Polysplenia |
ORPHA:1335 |
Alkaptonuria |
|
Black pigment gallstones |
ORPHA:56 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability, Abnormal abdomen morphology |
OMIM:181750 |
Joubert Syndrome 6 |
|
Hepatic fibrosis, Bile duct proliferation |
OMIM:610688 |
Meckel Syndrome, Type 2 |
|
Renal cyst, Bile duct proliferation |
OMIM:603194 |
Trisomy 10P |
|
Multiple renal cysts, Absent gallbladder, Small for gestational age |
ORPHA:171929 |
Trisomy 8P |
|
Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Cryptorchidism |
ORPHA:264450 |
Steinfeld Syndrome |
|
Absent gallbladder |
OMIM:184705 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct... |
OMIM:618329 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism |
OMIM:300712 |
Diaphanospondylodysostosis |
|
Enlarged kidney, Cystic renal dysplasia, Abnormal liver lobulation |
OMIM:608022 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hepatosplenomegaly, Hypersplenism, P... |
ORPHA:731 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pancreatic hypoplasia, Absent gallbladder, Failure to thrive, Biliary atresia |
OMIM:600001 |
Meckel Syndrome, Type 4 |
|
Renal cyst, Bile duct proliferation |
OMIM:611134 |
Hardikar Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:301068 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism |
ORPHA:163979 |
D-Bifunctional Protein Deficiency |
|
Fetal ascites, Elevated circulating hepatic transaminase concentration, Failure to thrive, Choles... |
OMIM:261515 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder |
OMIM:617925 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Micr... |
OMIM:203700 |
Zttk Syndrome |
|
Absent gallbladder, Failure to thrive |
OMIM:617140 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder |
ORPHA:3186 |
Mosaic Trisomy 9 |
|
Asplenia, Multiple renal cysts, Cryptorchidism, Abnormal liver lobulation |
ORPHA:99776 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct... |
OMIM:613658 |
Tetrasomy 9P |
|
Absent gallbladder, Cryptorchidism, Biliary atresia, Multiple renal cysts, Jaundice |
ORPHA:3310 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Decreased body weight, Cardiomegaly,... |
OMIM:620371 |
Metachromatic Leukodystrophy, Adult Form |
|
Neoplasm of the gallbladder, Cholecystitis |
ORPHA:309271 |
Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder |
ORPHA:96176 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Absent gallbladder |
ORPHA:500150 |
Liver Disease, Severe Congenital |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:619991 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Increased hepatic ech... |
OMIM:619525 |
Familial Adenomatous Polyposis |
|
Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Biliary tract obstruction, Hepatoblastoma, ... |
ORPHA:733 |
Cranioectodermal Dysplasia 2 |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Poly... |
OMIM:613610 |
Peters-Plus Syndrome |
|
Bilobate gallbladder, Cryptorchidism, Biliary tract abnormality, Decreased body weight |
OMIM:261540 |
Sarcoidosis |
|
Hepatic failure, Decreased liver function, Parotitis, Portal hypertension, Enlargement of parotid... |
ORPHA:797 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatic fibrosis, Biliary cirrhosis, Failure to thrive, Cholestasis, Elevated circulating asparta... |
OMIM:619534 |
Meckel Syndrome, Type 1 |
|
Malformation of the hepatic ductal plate, Accessory spleen, Splenomegaly, Cryptorchidism, Aspleni... |
OMIM:249000 |
Pmm2-Cdg |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Inc... |
ORPHA:79318 |