Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:619874 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:294 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:605911 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:260370 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly |
OMIM:606445 |
Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly |
OMIM:613978 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:46532 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:615158 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly |
OMIM:609016 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:620010 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content |
OMIM:232700 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:237800 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly |
ORPHA:2398 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Mulibrey Nanism |
|
Hepatomegaly |
ORPHA:2576 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... |
OMIM:214900 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy... |
OMIM:615710 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration |
OMIM:614876 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Decreased liver function, Cholestasis |
ORPHA:570422 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice |
OMIM:613977 |
Congenital Respiratory-Biliary Fistula |
|
Abnormality of the liver |
ORPHA:2040 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:79238 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly |
ORPHA:2432 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis |
OMIM:613313 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites |
ORPHA:890 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly |
OMIM:616622 |
Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:230350 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure |
OMIM:618549 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Hepatomegaly |
OMIM:603902 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis |
ORPHA:172 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly |
OMIM:607685 |
Immunodeficiency 48 |
|
Splenomegaly, Hepatomegaly |
OMIM:269840 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure |
ORPHA:75234 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas |
ORPHA:2924 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Annular pancreas, Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas |
ORPHA:2470 |
Pancreatitis, Hereditary |
|
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency |
OMIM:167800 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Hepatomegaly |
OMIM:133180 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Ascites, Portal vein hypoplasia |
OMIM:619433 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Perlman Syndrome |
|
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism |
ORPHA:2849 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Cholestasis |
OMIM:105200 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepato... |
ORPHA:369 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati... |
OMIM:610199 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Acholic sto... |
ORPHA:1414 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Cirrhosi... |
OMIM:616860 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He... |
OMIM:235555 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Hepatomegaly |
OMIM:618852 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:79084 |
Dextrocardia |
|
Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia |
ORPHA:1666 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Mody |
|
Pancreatic hypoplasia, Hepatocellular adenoma, Exocrine pancreatic insufficiency |
ORPHA:552 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
Klatskin Tumor |
|
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis |
ORPHA:99978 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Ascites |
ORPHA:100025 |
Propionic Acidemia |
|
Hepatomegaly |
ORPHA:35 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly |
ORPHA:66661 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly |
OMIM:306000 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly |
OMIM:612526 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Hemochromatosis, Type 2A |
|
Splenomegaly, Hepatomegaly, Cirrhosis |
OMIM:602390 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia |
OMIM:211890 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Hepatic steatosis, Cirrhosis |
OMIM:606069 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly |
ORPHA:79292 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly |
OMIM:600649 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Retroperitoneal fibrosis, Sp... |
OMIM:602782 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Pan... |
OMIM:618805 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Shwachman-Diamond Syndrome |
|
Hepatomegaly, Short attention span, Decreased response to growth hormone stimulation test, Hypopi... |
ORPHA:811 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly |
OMIM:601979 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas physiology, Abnorm... |
ORPHA:93111 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Aceruloplasminemia |
|
Abnormal pancreas morphology, Hepatic fibrosis, Cognitive impairment, Cirrhosis, Memory impairmen... |
ORPHA:48818 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:615631 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Reduced pancreatic beta cells |
ORPHA:99885 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Splenomegaly, Hepatomegaly, Jaundice, Exocrine pancreatic insufficiency |
OMIM:612714 |
Harderoporphyria |
|
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly |
OMIM:618107 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellula... |
OMIM:235200 |
17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Pancreatic aplasia |
ORPHA:261265 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Biliary atresia, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbladder, Pancreatic hypoplasia... |
ORPHA:2255 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Short attention span, Biliary hyperplasia, Intrahepatic cholestasis, Jaundice, Port... |
OMIM:619991 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestasis, Abnorma... |
ORPHA:79303 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly |
OMIM:620296 |
Hereditary Chronic Pancreatitis |
|
Jaundice, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Biliary tract abnormality, Exocrine pancreatic insufficiency |
OMIM:137920 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Wolman Disease |
|
Splenomegaly, Hepatomegaly, Hepatic failure, Ascites |
ORPHA:75233 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:266200 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis |
OMIM:194380 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... |
OMIM:261680 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly |
ORPHA:163596 |
Beta-Thalassemia |
|
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis |
ORPHA:848 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hepatic steatosis |
OMIM:615238 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:201450 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... |
ORPHA:64744 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Hepatomegaly, Elevated hepatic iron concentration |
OMIM:615234 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:613070 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Hepatomegaly, Jaundice, Prolonged neonatal jaundice |
OMIM:185000 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis |
OMIM:613280 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Pancreatic hypoplasia |
ORPHA:83617 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Pancreatic aplasia |
ORPHA:556955 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality o... |
ORPHA:231222 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis |
ORPHA:79085 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia |
OMIM:600001 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:616689 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas morphology, En... |
ORPHA:449432 |
Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:614377 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas |
ORPHA:1305 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
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Absent gallbladder, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:618500 |
Senior-Loken Syndrome 8 |
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Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Interstitial Lung And Liver Disease |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Immunodeficiency 47 |
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Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... |
OMIM:300972 |
Acrocephalopolydactylous Dysplasia |
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Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia |
OMIM:200995 |
Shwachman-Diamond Syndrome 2 |
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Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617941 |
Argininemia |
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Hepatomegaly, Micronodular cirrhosis, Portal fibrosis, Cholestasis |
OMIM:207800 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... |
OMIM:208500 |
Bone Marrow Failure Syndrome 3 |
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Pancreatic steatosis, Cryptorchidism, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617052 |
Sickle Cell Disease |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis |
OMIM:603903 |
Glycogen Storage Disease Ib |
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Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hepatocellular carcinoma, Pancreatitis |
OMIM:232220 |
Primary Sclerosing Cholangitis |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Portal hy... |
ORPHA:171 |
Peroxisome Biogenesis Disorder 1B |
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Hepatomegaly, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Meckel Syndrome, Type 7 |
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Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... |
OMIM:267010 |
Congenital Alveolar Capillary Dysplasia |
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Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Atelosteogenesis Type I |
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Abnormal pancreatic duct morphology |
ORPHA:1190 |
Bohring-Opitz Syndrome |
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Supernumerary nipple, Hyperechogenic pancreas |
OMIM:605039 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
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Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf... |
OMIM:616263 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Pancreatic fibrosis |
OMIM:615503 |
Hyperlipoproteinemia, Type Id |
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Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Nephronophthisis-Like Nephropathy 1 |
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Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
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Annular pancreas |
OMIM:618162 |
Pearson Marrow-Pancreas Syndrome |
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Hepatomegaly, Pancreatic fibrosis, Macronodular cirrhosis, Exocrine pancreatic insufficiency |
OMIM:557000 |
Meckel Syndrome |
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Accessory spleen, Pancreatic fibrosis, Asplenia, Cryptorchidism, Congenital hepatic fibrosis, Pan... |
ORPHA:564 |
Fanconi Anemia, Complementation Group D2 |
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Cryptorchidism, Annular pancreas, Attention deficit hyperactivity disorder |
OMIM:227646 |
Pearson Syndrome |
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Hypoparathyroidism, Hepatomegaly, Pancreatic fibrosis, Decreased response to growth hormone stimu... |
ORPHA:699 |
Von Hippel-Lindau Syndrome |
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Neoplasm of the pancreas, Pheochromocytoma, Hepatic hemangioma, Pancreatic cysts |
OMIM:193300 |
Autosomal Recessive Polycystic Kidney Disease |
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Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... |
ORPHA:731 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Cryptorchidism, Annular pancreas, Attention deficit hyperactivity disorder |
OMIM:616975 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
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Annular pancreas |
ORPHA:488642 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Pancreatic fibrosis, Hepatic fibrosis |
OMIM:263520 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Cryptorchidism, Splenomegaly, Abnormal pancreas morphology, Pseudohypoparathyroidis... |
ORPHA:116 |
Jacobsen Syndrome |
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Cryptorchidism, Annular pancreas |
OMIM:147791 |
Jacobsen Syndrome |
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Cryptorchidism, Annular pancreas, Attention deficit hyperactivity disorder |
ORPHA:2308 |
Rothmund-Thomson Syndrome, Type 2 |
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Cryptorchidism, Annular pancreas |
OMIM:268400 |
Bohring-Opitz Syndrome |
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Cholelithiasis, Annular pancreas |
ORPHA:97297 |
Trisomy 8P |
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Cryptorchidism, Annular pancreas, Aplasia/Hypoplasia of the gallbladder |
ORPHA:264450 |
Feingold Syndrome 1 |
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Asplenia, Annular pancreas, Polysplenia, Accessory spleen |
OMIM:164280 |
Distal Deletion 12Q |
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Unilateral cryptorchidism, Annular pancreas, Biliary atresia, Pituitary adenoma |
ORPHA:96149 |
Beckwith-Wiedemann Syndrome |
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Hepatoblastoma, Hepatomegaly, Pancreatic hyperplasia, Cryptorchidism |
OMIM:130650 |
Fryns Syndrome |
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Cryptorchidism, Ectopic pancreatic tissue, Polysplenia |
OMIM:229850 |
Yellow Fever |
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Acute pancreatitis, Pancreatic hyperplasia, Jaundice |
ORPHA:99829 |
Schinzel-Giedion Syndrome |
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Hepatoblastoma, Annular pancreas, Streak ovary |
ORPHA:798 |
1P36 Deletion Syndrome |
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Abnormality of the spleen, Cryptorchidism, Abnormality of the liver, Annular pancreas, Hepatic st... |
ORPHA:1606 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Asplenia, Annular pancreas |
OMIM:265380 |