Mitchell-Riley Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Intrauterine growth retardat... |
OMIM:615710 |
Mody |
|
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... |
ORPHA:552 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Severe short stature, Hypoglycemia, Decreased serum insulin-like growth factor 1, Reduced circula... |
OMIM:262400 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Pancreatic Agenesis 1 |
|
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insuffic... |
OMIM:260370 |
Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Intrauterine growth retardation, Extrahepatic biliary du... |
OMIM:601346 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas... |
ORPHA:438274 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Decreased circulating lipoprotein lipase concentrat... |
ORPHA:556955 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating horm... |
OMIM:610199 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Elevated gamma-glutamyltransferase level, Type I diabetes mellitus, Exocrine pancreatic insuffici... |
OMIM:618500 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue, Severe i... |
OMIM:609069 |
Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... |
OMIM:619290 |
Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... |
OMIM:613027 |
Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... |
OMIM:210500 |
Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis |
ORPHA:446 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormal liver parenchyma morphology, Abnormality of the pancreas, ... |
ORPHA:3032 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating hepatic transaminase concentration, Abnormality of alkaline phosphatase leve... |
OMIM:137920 |
Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Hepatic failure, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Intrauteri... |
OMIM:231100 |
Cholangiocarcinoma |
|
Biliary tract neoplasm, Jaundice, Acholic stools |
ORPHA:70567 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Glycosuria, Hyperglycemia, I... |
ORPHA:99885 |
Non-Acquired Isolated Growth Hormone Deficiency |
|
Growth delay, Premature skin wrinkling, Delayed puberty, Prolonged neonatal jaundice, Neonatal hy... |
ORPHA:631 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... |
OMIM:620010 |
Crigler-Najjar Syndrome Type 1 |
|
Prolonged neonatal jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:79234 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Increased hepatic glycogen ... |
ORPHA:293964 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Mild postnatal growth retardation, Hyperechogenic pancreas, Ab... |
ORPHA:456312 |
Mirizzi Syndrome |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Elevated circulating alk... |
ORPHA:521219 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Elevated gamma-glutamyltransferase level, Portal fibrosis, Elevated circulating aspartate aminotr... |
OMIM:619868 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu... |
OMIM:618549 |
Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Pancreatic calcification, Recurrent pancre... |
ORPHA:676 |
Galactosemia Iv |
|
Hepatomegaly, Prolonged neonatal jaundice |
OMIM:618881 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pancreatic hypoplasia, Glycosuria, Hyperglycemia, Intrauterine growth retardation, Absent gallbla... |
OMIM:600001 |
17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Cryptorchi... |
ORPHA:261265 |
Isolated Biliary Atresia |
|
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... |
ORPHA:30391 |
Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia |
OMIM:245550 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas... |
ORPHA:90003 |
Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... |
ORPHA:65682 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... |
ORPHA:79301 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... |
ORPHA:139507 |
Tropical Pancreatitis |
|
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... |
ORPHA:103918 |
Crigler-Najjar Syndrome, Type Ii |
|
Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa... |
OMIM:606785 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration |
OMIM:614876 |
Caroli Syndrome |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
ORPHA:480520 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia,... |
ORPHA:2255 |
Lambert Syndrome |
|
Cholestasis, Jaundice, Intrahepatic biliary atresia, Intrauterine growth retardation |
ORPHA:1296 |
Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Short stature |
ORPHA:172 |
Meckel Syndrome, Type 6 |
|
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Renal cyst, Bile duct proliferation, Cystic ... |
OMIM:612284 |
Acth Deficiency, Isolated |
|
Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena... |
OMIM:201400 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... |
OMIM:602782 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Growth delay, Splenomegaly |
ORPHA:79238 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Portal fibrosis, Portal infla... |
OMIM:602347 |
Perlman Syndrome |
|
Hepatomegaly, Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology |
ORPHA:2849 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia |
OMIM:609016 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619658 |
Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... |
OMIM:232700 |
Galactosemia Ii |
|
Prolonged neonatal jaundice |
OMIM:230200 |
Matthew-Wood Syndrome |
|
Annular pancreas, Intrauterine growth retardation, Cryptorchidism, Abnormal spleen morphology, Ap... |
ORPHA:2470 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Hepatosplenomegaly |
OMIM:312500 |
Hepatitis Delta |
|
Hepatic failure, Hepatitis, Bruising susceptibility, Elevated circulating aspartate aminotransfer... |
ORPHA:402823 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic... |
ORPHA:562639 |
Edinburgh Malformation Syndrome |
|
Jaundice |
OMIM:129850 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... |
OMIM:617394 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Postnatal growt... |
ORPHA:453533 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Cutaneous photosensitivity |
OMIM:300752 |
Dextrocardia |
|
Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia |
ORPHA:1666 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Abnormalit... |
ORPHA:93111 |
Crigler-Najjar Syndrome, Type I |
|
Jaundice, Elevated circulating hepatic transaminase concentration |
OMIM:218800 |
Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Hyperglycemia, Intrauterine growth retardation, Transient n... |
ORPHA:99886 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... |
ORPHA:79302 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... |
OMIM:613812 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly |
OMIM:224100 |
Neonatal Alloimmune Neutropenia |
|
Jaundice, Maternal diabetes |
ORPHA:464370 |
Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
Galactosemia Iii |
|
Hepatomegaly, Jaundice, Splenomegaly, Decreased beta-galactosidase activity |
OMIM:230350 |
Hyperbilirubinemia, Rotor Type |
|
Jaundice |
OMIM:237450 |
Shwachman-Diamond Syndrome |
|
Elevated circulating hepatic transaminase concentration, Growth delay, Pancreatic hypoplasia, Hyp... |
ORPHA:811 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly |
OMIM:206400 |
Cog7-Cdg |
|
Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Hepatosple... |
ORPHA:79333 |
Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Jaundice |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Jaundice |
OMIM:237900 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Intrauterine growth retardation, Hashimo... |
ORPHA:436252 |
Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... |
OMIM:214900 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615158 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... |
OMIM:619662 |
Hydroxykynureninuria |
|
Jaundice |
OMIM:236800 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Hyperglycemia... |
OMIM:608600 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia |
ORPHA:67046 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
Rotor Syndrome |
|
Jaundice, Abnormal circulating enzyme concentration or activity, Intermittent jaundice |
ORPHA:3111 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Distal Duplication 5Q |
|
Short stature, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism |
ORPHA:96097 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... |
ORPHA:79095 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Pancreatic hypoplasia, Postnatal growth retardation, Intrauterine growth retardat... |
ORPHA:83617 |
Multiple Endocrine Neoplasia Type 4 |
|
Erythema, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... |
ORPHA:276152 |
Congenital Rubella Syndrome |
|
Type I diabetes mellitus, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Jaundice, ... |
ORPHA:290 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hepatic fibrosis, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Decreased l... |
OMIM:617093 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con... |
OMIM:616278 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration |
ORPHA:890 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Type II diabetes mel... |
OMIM:616860 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Jaundice, Cutaneous photosensitivity, Splenomegaly |
OMIM:121300 |
Hypercholanemia, Familial, 2 |
|
Prolonged neonatal jaundice |
OMIM:619256 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulating free T3, Decr... |
OMIM:613038 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Gilbert Syndrome |
|
Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration |
OMIM:143500 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hyperten... |
OMIM:267010 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration... |
OMIM:605479 |
Crigler-Najjar Syndrome Type 2 |
|
Prolonged neonatal jaundice |
ORPHA:79235 |
Craniofacioskeletal Syndrome |
|
Short stature, Intrauterine growth retardation, Absent gallbladder, Cryptorchidism |
OMIM:300712 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
ORPHA:79303 |
Autosomal Erythropoietic Protoporphyria |
|
Erythema, Cholelithiasis, Decreased liver function, Cirrhosis, Cutaneous photosensitivity |
ORPHA:79278 |
Hyperbiliverdinemia |
|
Cholestasis, Cholelithiasis, Decreased liver function |
OMIM:614156 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... |
OMIM:211600 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice |
ORPHA:75234 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Growth delay, Elevated circulating hepatic transaminase concen... |
ORPHA:369 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Short stature, Jaundice, Hypothyroidism |
ORPHA:2349 |
Liver Disease, Severe Congenital |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:619991 |
Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... |
ORPHA:1414 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice, Cyanosis |
OMIM:613977 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Cholestasis, Postnatal growth r... |
OMIM:246200 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Polysplenia |
ORPHA:1335 |
Classic Galactosemia |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Abnormal ... |
ORPHA:79239 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Jaundice, Intrauterine growth retardation, Elevated circulating hepatic transaminas... |
ORPHA:858 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
O'Donnell-Luria-Rodan Syndrome |
|
Prolonged neonatal jaundice, Cryptorchidism |
OMIM:618512 |
Alg6-Cdg |
|
Puberty and gonadal disorders, Abnormality of the liver, Abnormal circulating enzyme concentratio... |
ORPHA:79320 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:237800 |
Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom... |
OMIM:607361 |
Infantile Liver Failure Syndrome 2 |
|
Acute hepatic failure, Jaundice, Elevated circulating hepatic transaminase concentration, Hypogly... |
OMIM:616483 |
Thyroid Hemiagenesis |
|
Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ... |
ORPHA:95719 |
Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Abnormal... |
ORPHA:400 |
Nephronophthisis 13 |
|
Pancreatic cysts, Intrahepatic bile duct dilatation, Growth delay, Hepatic cysts |
OMIM:614377 |
Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc... |
ORPHA:1333 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Intrauterine growth retardation, Splenome... |
OMIM:266200 |
Crigler-Najjar Syndrome |
|
Jaundice, Abnormality of the liver |
ORPHA:205 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom... |
OMIM:619902 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... |
ORPHA:79084 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Elevated circ... |
OMIM:147480 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Decreased liver function, Hypogonadism, Hepatosplenomegaly, Abnormality of the li... |
ORPHA:231222 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short stature, Type II diabetes mellitus, Biliary tract abnormality |
ORPHA:3191 |
Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Decreased ... |
ORPHA:199296 |
Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic transaminase concentra... |
ORPHA:1667 |
Trisomy 10P |
|
Intrauterine growth retardation, Absent gallbladder, Multiple renal cysts, Growth delay |
ORPHA:171929 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... |
OMIM:607626 |
Protoporphyria, Erythropoietic, 1 |
|
Erythema, Cholelithiasis, Hepatic failure |
OMIM:177000 |
Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... |
OMIM:147630 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isomerase level, Splenomegaly, Cho... |
OMIM:613470 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Intrauterine growth retardation, Diabetes me... |
OMIM:613370 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
Bile Acid Conjugation Defect 1 |
|
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... |
OMIM:619232 |
Cholestasis, Intrahepatic, Of Pregnancy 3 |
|
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice |
OMIM:614972 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... |
ORPHA:276580 |
Glycogen Storage Disease Ixb |
|
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Short stature, Hepatomegaly, Redu... |
OMIM:261750 |
8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism |
ORPHA:96092 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Cir... |
OMIM:617049 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Splenomegaly, Elevated circulating alkaline phosphatase concentration, ... |
OMIM:601847 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Cyst of the ductus choledochus, Dermatographic urticaria |
OMIM:619480 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... |
OMIM:167800 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Cholelithiasis |
ORPHA:309108 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:612714 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Splenomegaly, Hepatomegaly, Jaundice, Short stature |
OMIM:615631 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Short stature, Absent gallbladder, Cryptorchidism |
ORPHA:163979 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... |
OMIM:618329 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:59303 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hepatic fibrosis, Renal cyst, Bile duct proliferation, Pancreatic fibrosis, Short stature, Jaundi... |
OMIM:208500 |
Steinfeld Syndrome |
|
Absent gallbladder |
OMIM:184705 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatome... |
OMIM:232400 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Cholestasis, Hyperi... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Cholestasis, Hyperi... |
ORPHA:71526 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated circulating hepatic transaminase concentration, Abnormal pineal melatonin secretion, Cho... |
ORPHA:69665 |
Meckel Syndrome, Type 2 |
|
Renal cyst, Intrauterine growth retardation, Bile duct proliferation |
OMIM:603194 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:603552 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... |
ORPHA:276575 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, Elevated circulati... |
OMIM:251880 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... |
OMIM:618528 |
Combined Oxidative Phosphorylation Deficiency 59 |
|
Cholelithiasis, Ketotic hypoglycemia |
OMIM:620646 |
Retinitis Pigmentosa 89 |
|
Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis |
OMIM:618955 |
Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... |
ORPHA:53035 |
Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Abnormal peritoneum morphology, Hypo... |
ORPHA:2126 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Intrauterine growth ... |
OMIM:619048 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
OMIM:613404 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Neonatal death |
OMIM:617925 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Splenomegaly, Hypogonadotropic hypogonadism, Hepatomegaly |
ORPHA:848 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Growth delay, Increased circulating prolactin concentration, Decreased circulating T4 concentrati... |
ORPHA:99832 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Severe postnatal growth retardation, Hyp... |
OMIM:262700 |
Trisomy 8P |
|
Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Cryptorchidism |
ORPHA:264450 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Intermittent jaundice |
OMIM:179700 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
Glutamate-Cysteine Ligase Deficiency |
|
Jaundice, Hepatosplenomegaly |
ORPHA:33574 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Thyroid adenoma, Erythema, Pituitary adenoma, Increased circulating cortisol... |
ORPHA:913 |
Meckel Syndrome, Type 4 |
|
Renal cyst, Intrauterine growth retardation, Bile duct proliferation |
OMIM:611134 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased circulating T4 concentration, Abnormality of thyroid physiology, Reduced radioactive io... |
ORPHA:95715 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Splenomegaly, Cholecystitis, Reduced erythrocyte hexokinase activity, Jaundice |
OMIM:235700 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Type I diabetes mellitus, Female hypogonadism, Male hypogonadism, Adrenal insuffi... |
OMIM:240300 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Reduced muscle 6-phosp... |
OMIM:232800 |
Thyroid Hypoplasia |
|
Growth delay, Hypothyroidism, Short stature, Jaundice, Thyroid hypoplasia |
ORPHA:95720 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... |
OMIM:607765 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypoketotic ... |
ORPHA:276556 |
Idiopathic Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Decreased circulating T4 concentration, Elevated circulating thyroid... |
ORPHA:95717 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypogl... |
ORPHA:324575 |
Alveolar Echinococcosis |
|
Biliary cirrhosis, Decreased liver function, Abnormal mesentery morphology, Portal hypertension, ... |
ORPHA:284 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glycosuria, Hypoglycemia, Hepatic periportal necrosis, Renal cortical cysts, Hepatic steatosis, N... |
OMIM:231680 |
Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:95716 |
Vipoma |
|
Intrahepatic cholestasis, Erythema, Follicular thyroid carcinoma, Pituitary adenoma, Increased ci... |
ORPHA:97282 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Elevated gamma-glutamyltransferase level, Hepatic failure, Growth delay, Micronodular cirrhosis, ... |
OMIM:256810 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hypoplastic nipples, Delayed puberty, Abnormal circulating thyroid hormone concentration, Short s... |
ORPHA:480880 |
Ppoma |
|
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ... |
ORPHA:97278 |
Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts |
OMIM:616307 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:235555 |
Zttk Syndrome |
|
Short stature, Intrauterine growth retardation, Absent gallbladder, Growth delay |
OMIM:617140 |
Babesiosis |
|
Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly |
ORPHA:108 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Abnormal circulating aldosterone, Increased circulating renin level, Proportionat... |
ORPHA:171876 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adrenal insufficienc... |
OMIM:619386 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Exocrine pancreatic insufficiency, Postnatal growth retardation, Hepatic steato... |
OMIM:616263 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cholestas... |
OMIM:617156 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Reduced ... |
OMIM:614887 |
Meckel Syndrome, Type 5 |
|
Renal cyst, Bile duct proliferation |
OMIM:611561 |
Fetal Cytomegalovirus Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterine growth retardati... |
ORPHA:294 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Biliary atresia |
ORPHA:565899 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder |
ORPHA:3186 |
Campomelia, Cumming Type |
|
Polysplenia, Short stature, Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease |
OMIM:211890 |
Somatostatinoma |
|
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... |
ORPHA:97283 |
Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hepatomegaly... |
OMIM:306000 |
Pediatric-Onset Graves Disease |
|
Elevated circulating hepatic transaminase concentration, Graves disease, Goiter, Puberty and gona... |
ORPHA:525731 |
Diarrhea 13 |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recurrent hypoglycemia |
OMIM:620357 |
Familial Chylomicronemia Syndrome |
|
Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Jaundice, Acute pancreatitis, Diab... |
ORPHA:444490 |
Duodenal Atresia |
|
Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Glycogen Storage Disease Ib |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Reduced hepatic glucose-6-... |
OMIM:232220 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Increased serum serotonin, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic... |
ORPHA:100085 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating aspartate ami... |
OMIM:619481 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... |
ORPHA:226313 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Pr... |
OMIM:617872 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Cholecystitis, Splenom... |
OMIM:611881 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hepatic fibrosis, Periportal fibrosis, Elevated gamma-glutamyltransferase level, Cholestasis, Hep... |
ORPHA:731 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Hypopituitarism, Hepatosplenomegaly, Hypersplenism, Adrenal insufficiency, Sple... |
ORPHA:231226 |
Tetrasomy 9P |
|
Intrauterine growth retardation, Absent gallbladder, Cryptorchidism, Biliary atresia, Multiple re... |
ORPHA:3310 |
Hemochromatosis, Type 4 |
|
Glucose intolerance, Hepatic steatosis, Cirrhosis, Hepatomegaly, Diabetes mellitus, Impaired gluc... |
OMIM:606069 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Hepatomegaly, Jaundice |
OMIM:614872 |
Spherocytosis, Type 1 |
|
Jaundice, Cholelithiasis, Splenomegaly |
OMIM:182900 |
Familial Atrial Myxoma |
|
Cholestasis, Jaundice |
ORPHA:615 |
Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising susceptibility, Acut... |
ORPHA:905 |
Propionic Acidemia |
|
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hypoglycemia |
ORPHA:35 |
Autoimmune Hepatitis |
|
Spider hemangioma, Elevated circulating hepatic transaminase concentration, Viral hepatitis, Sple... |
ORPHA:2137 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Hepatocellular carcinoma |
ORPHA:60 |
Grfoma |
|
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ... |
ORPHA:97261 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Hypoglycemia, Abnormal circulating androgen level, Increase... |
ORPHA:90790 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Intrauterine growth retard... |
OMIM:618958 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Pancreatitis, Hypoglycemia |
OMIM:620137 |
Pancreatoblastoma |
|
Pancreatic calcification, Jaundice |
ORPHA:677 |
Budd-Chiari Syndrome |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi... |
ORPHA:131 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... |
ORPHA:64743 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating hepatic transaminase concentration, Decreased li... |
OMIM:246900 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf... |
OMIM:619418 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Nodular regenerative hyperplasia of liver, Hepatic fibrosis, Biliary cirrhosis, Hepatic failure, ... |
OMIM:620454 |
Aceruloplasminemia |
|
Abnormal circulating enzyme concentration or activity, Elevated hepatic iron concentration, Abnor... |
ORPHA:48818 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure, Short s... |
OMIM:614886 |
Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid... |
ORPHA:64744 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
Joubert Syndrome 6 |
|
Hepatic fibrosis, Bile duct proliferation |
OMIM:610688 |
Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Hepatic failure, Growth delay, Bruising susceptibility, Hepat... |
ORPHA:77259 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat... |
OMIM:208085 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrauterine growth retardation, Cryptorchidism, Hypoplasia of the thymus, Hepatomegaly, Jaundice... |
OMIM:214110 |
Endocardial Fibroelastosis |
|
Anterior hypopituitarism, Cryptorchidism, Hypoglycemia |
ORPHA:2022 |
Sialuria |
|
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Cholel... |
ORPHA:3166 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Intrauterine growth retardation |
OMIM:601410 |
Cirrhosis, Familial |
|
Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Jaundice, Fulminant hepatitis |
OMIM:215600 |
Klatskin Tumor |
|
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis |
ORPHA:99978 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Growth delay, Decreased liver function, Hypoglycemia, Elevated circulating aspartate aminotransfe... |
OMIM:608779 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Short stature, Jaundice, Growth delay, Decreased methionine synthase activity |
OMIM:250940 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:614741 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:194380 |
North American Indian Childhood Cirrhosis |
|
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension |
OMIM:604901 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Cyanosis, Eleva... |
OMIM:261680 |
Harderoporphyria |
|
Prolonged neonatal jaundice, Hepatomegaly, Cutaneous photosensitivity, Splenomegaly |
OMIM:618892 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Hypopituitarism, Hepatosplenomegaly, Hypersplenism, Adrenal insufficiency, Sple... |
ORPHA:231214 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Petechiae, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:79477 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Elevated gamma-glutamyltransferase level, Neuroendocrine neoplasm, Cholec... |
ORPHA:100086 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... |
OMIM:214950 |
Hemolytic Anemia, Congenital, X-Linked |
|
Jaundice |
OMIM:301015 |
Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:226316 |
Niemann-Pick Disease, Type A |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Hepatomegaly, Elevat... |
OMIM:257200 |
Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Prolonged neonatal jaundice,... |
OMIM:301068 |
Bangstad Syndrome |
|
Type I diabetes mellitus, Abnormality of the parathyroid gland, Increased circulating cortisol le... |
ORPHA:1227 |
Griscelli Syndrome |
|
Hepatitis, Premature graying of hair, Splenomegaly, Hepatomegaly, Jaundice, Short stature |
ORPHA:381 |
Hereditary Fructose Intolerance |
|
Reduced circulating aldolase concentration, Reactive hypoglycemia, Chronic hepatic failure, Hepat... |
ORPHA:469 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Growth delay, Hypoglycemia, Decreased response to growth hormone sti... |
ORPHA:226307 |
Glucagonoma |
|
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... |
ORPHA:97280 |
Liver Failure, Infantile, Transient |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microvesicular he... |
OMIM:613070 |
16P12.1P12.3 Triplication Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal intrahepatic bile duct morphology... |
ORPHA:485405 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
Hereditary Spherocytosis |
|
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Growth delay |
ORPHA:822 |
Allan-Herndon-Dudley Syndrome |
|
Prolonged neonatal jaundice, Abnormality of thyroid physiology, Short stature, Cryptorchidism |
ORPHA:59 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio... |
ORPHA:440713 |
Fanconi Anemia, Complementation Group Q |
|
Short stature, Growth delay, Biliary atresia |
OMIM:615272 |
Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... |
OMIM:608189 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Increased circulating lactate dehydrogenase concentration |
OMIM:613839 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Abnormal hepatic glycogen storage, Eleva... |
ORPHA:2088 |
Evans Syndrome |
|
Jaundice, Petechiae, Bruising susceptibility |
ORPHA:1959 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Decreas... |
OMIM:231530 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Glycosuria, Insulin-resistant ... |
ORPHA:2298 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Postnatal growth retardation, Splenomegaly, Prolonged neonatal jaundice, Jaundice |
ORPHA:288 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Prolonged neonatal jaundice, Short stature, Hypoglycemia |
OMIM:233600 |
Joubert Syndrome 18 |
|
Intrauterine growth retardation, Intrahepatic biliary atresia, Renal cyst |
OMIM:614815 |
Temple Syndrome |
|
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... |
ORPHA:254516 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Intrauterine growth retardation, Cholelithiasis |
OMIM:618775 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Abnormal circulating adrenocorticotropin concentration, Hypoglycemic seizures, Hypogonadism, Panh... |
OMIM:262600 |
Cimdag Syndrome |
|
Hepatomegaly, Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis |
OMIM:619273 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Hyperglycemia, Portal hypertension, Splenomegaly, Hyp... |
ORPHA:465508 |
Feingold Syndrome |
|
Short stature, Abnormality of the spleen, Annular pancreas |
ORPHA:1305 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:90673 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated gamma-glutamyltransferase level, Hepatic cysts, Elevated circulating alkaline phosphatas... |
OMIM:613095 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Elevated circulating hepatic transaminase concentration, Splenomegaly, Petechiae, Hepat... |
OMIM:225750 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Glucose intolerance, Splenomegaly, Hepatomegaly, ... |
OMIM:615630 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... |
OMIM:613658 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Intrauterine growth retardation, Absent gallbladder, Proportionate short stature |
ORPHA:500150 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia, Lipid accumulati... |
ORPHA:20 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... |
ORPHA:209902 |
X-Linked Sideroblastic Anemia |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Glucose intolerance |
ORPHA:75563 |
Thyroid Ectopia |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the thyroid gland,... |
ORPHA:95712 |
Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... |
ORPHA:95619 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Growth delay, Increased circulating... |
ORPHA:90674 |
Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Increased circulating lactate dehydrogenase concentration, Pancreatitis, Jaun... |
ORPHA:370348 |
Congenital Syphilis |
|
Hypoglycemia, Intrauterine growth retardation, Hepatosplenomegaly, Petechiae, Pancreatitis, Prolo... |
ORPHA:499009 |
Reynolds Syndrome |
|
Generalized abnormality of skin, Cirrhosis, Telangiectasia of the skin, Hepatomegaly, Jaundice, M... |
ORPHA:779 |
Alpha-Thalassemia |
|
Cholelithiasis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Jaundice |
ORPHA:846 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ... |
OMIM:615925 |
Developmental And Epileptic Encephalopathy 75 |
|
Prolonged neonatal jaundice, Decreased liver function |
OMIM:618437 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Bruising susc... |
ORPHA:540 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... |
OMIM:615954 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased... |
OMIM:613986 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypoketoti... |
ORPHA:263455 |
Ring Chromosome 13 Syndrome |
|
Growth delay, Hypoplasia of the gallbladder, Primary hypothyroidism |
ORPHA:96176 |
Pseudo-Torch Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Splenomegaly, ... |
OMIM:251290 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
Primary Biliary Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltransferase level, H... |
ORPHA:186 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Ovarian neoplasm |
ORPHA:157798 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:266150 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Prolonged neonatal jaundice, Splenomegaly, Reduced red cell pyruvate kinase level |
ORPHA:766 |
Hypertriglyceridemia 1 |
|
Hypopituitarism, Glucose intolerance |
OMIM:145750 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
OMIM:151660 |
Coach Syndrome 1 |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Multiple small medulla... |
OMIM:216360 |
Prolidase Deficiency |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Petechiae, Prolonged... |
OMIM:170100 |
Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... |
ORPHA:449432 |
Immunodeficiency 54 |
|
Postnatal growth retardation, Intrauterine growth retardation, Adrenal insufficiency, Splenomegal... |
OMIM:609981 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:603903 |
Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... |
OMIM:300972 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Postnatal growth retardation, Dec... |
OMIM:616113 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hypoketotic hypoglycemia, Cholestatic liver disease |
ORPHA:5 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Prolonged neonatal jaundice, Intrauterine growth retardation, Diabetes insipidus, Short stature |
ORPHA:423479 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Annular pancreas, Bruising susceptibility, Elevated circulating alkaline phosphatase ... |
OMIM:618162 |
Legionnaires Disease |
|
Jaundice, Pancreatitis, Hepatitis, Splenomegaly |
ORPHA:549 |
D-Bifunctional Protein Deficiency |
|
Elevated circulating hepatic transaminase concentration, Cholestasis, Primary adrenal insufficien... |
OMIM:261515 |
Estrogen Resistance |
|
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... |
OMIM:615363 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated gamma-glutamyltransferase level, Type I diabetes mellitus, Elevated circulating hepatic ... |
OMIM:619525 |
Zellweger Syndrome |
|
Hepatic failure, Multicystic kidney dysplasia, Primary adrenal insufficiency, Cryptorchidism, Hep... |
ORPHA:912 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Cholecystitis, Splenomegaly, Prolonged neonatal jaundice, Jaundice |
OMIM:615512 |
Seckel Syndrome 10 |
|
Severe short stature, Insulin resistance, Elevated circulating luteinizing hormone level, Glycosu... |
OMIM:617253 |
Peutz-Jeghers Syndrome |
|
Bile duct polyp, Ovarian cyst, Biliary tract abnormality, Precocious puberty with Sertoli cell tu... |
OMIM:175200 |
Trichohepatoenteric Syndrome 1 |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Renal cortical microcysts, Intrauterine growth re... |
OMIM:222470 |
Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi... |
OMIM:600955 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Cryptorchidism |
OMIM:608093 |
Peroxisome Biogenesis Disorder 6B |
|
Prolonged neonatal jaundice, Delayed menarche, Decreased liver function |
OMIM:614871 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Short stature, Decreased testicular size, Cholelithiasis, Cryptorchidism |
OMIM:300534 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency, Short stature |
OMIM:617941 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... |
OMIM:262190 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Hypoketotic hypoglycemia, Elevated circulating hepatic transaminase conce... |
ORPHA:26793 |
Galactokinase Deficiency |
|
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Abnormal circulating enzyme concentration or ... |
ORPHA:79237 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia |
ORPHA:2394 |
Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Splenomegaly, Hypoglycemia |
ORPHA:664 |
Atelosteogenesis Type I |
|
Neonatal short-trunk short stature, Rhizomelia, Multiple renal cysts, Abnormal pancreatic duct mo... |
ORPHA:1190 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,... |
OMIM:201910 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... |
OMIM:603471 |
Distal Deletion 12Q |
|
Annular pancreas, Pituitary adenoma, Maturity-onset diabetes of the young, Biliary atresia, Short... |
ORPHA:96149 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Prolonged neonatal jaundice |
OMIM:618828 |
Mhc Class Ii Deficiency 1 |
|
Cholangitis, Viral hepatitis, Biliary tract abnormality |
OMIM:209920 |
Maple Syrup Urine Disease, Type Ia |
|
Pancreatitis, Hypoglycemia, Reduced branched-chain alpha-keto acid dehydrogenase activity in cult... |
OMIM:248600 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Splenomegaly, Intermit... |
ORPHA:3202 |
Bohring-Opitz Syndrome |
|
Short stature, Intrauterine growth retardation, Cholelithiasis, Annular pancreas |
ORPHA:97297 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Increased circulating lactate dehydrogenase concentration, Mild postnatal growth retardation, Spl... |
OMIM:224120 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia |
ORPHA:156 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Short stature, Pancreatic fibrosis |
OMIM:615503 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabet... |
OMIM:557000 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... |
OMIM:203700 |
Lathosterolosis |
|
Hepatic fibrosis, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated ci... |
OMIM:607330 |
Hemochromatosis, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Glucose intolerance, Splenomegaly, Telan... |
OMIM:235200 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati... |
OMIM:614866 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Growth delay, Elevated circulating hepatic transaminase concen... |
ORPHA:264580 |
Pearson Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Growth delay, Glycosuri... |
ORPHA:699 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Prolonged neonatal jaundice |
OMIM:618868 |
Metachromatic Leukodystrophy |
|
Abnormal circulating enzyme concentration or activity, Hemobilia, Neoplasm of the gallbladder, Ab... |
ORPHA:512 |
Overhydrated Hereditary Stomatocytosis |
|
Prolonged neonatal jaundice, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:185000 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Prolonged neona... |
OMIM:619377 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Elevated gamma-glutamyltransferase level, Growth delay, Splenomegaly, Hepatomegaly, Jaundice, Sho... |
OMIM:608885 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Portal hypertension,... |
OMIM:263200 |
Hyperlipoproteinemia, Type I |
|
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly |
OMIM:238600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Cholelithiasis, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Hepatomegaly |
OMIM:301066 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Reduced tissue medium-chai... |
OMIM:201450 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Hypoglycemia, Cryptorchidism, Hypothyroidism, Delayed puberty, Adren... |
ORPHA:95496 |
Spherocytosis, Type 5 |
|
Jaundice, Splenomegaly |
OMIM:612690 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:616689 |
Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts, Hepatomegaly, Prematurely a... |
ORPHA:1318 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Elevated circu... |
OMIM:616026 |
Glycogen Storage Disease Ia |
|
Elevated circulating hepatic transaminase concentration, Growth delay, Hypoglycemia, Delayed pube... |
OMIM:232200 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, G... |
OMIM:227810 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Cystic renal dysplasia |
OMIM:200995 |
Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Reduced erythrocyte uroporphyrinogen III cosynthase activity, Splenomegaly, Cutan... |
OMIM:263700 |
Propionic Acidemia |
|
Hypoglycemia, Propionyl-CoA carboxylase deficiency, Pancreatitis, Hepatomegaly, Short stature |
OMIM:606054 |
Relapsing Fever |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Increased circulating lactate ... |
ORPHA:91547 |
Sotos Syndrome |
|
Prolonged neonatal jaundice, Neonatal hypoglycemia, Cryptorchidism, Glucose intolerance |
OMIM:117550 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Jaundice, Hypoglycemia |
OMIM:615751 |
Alagille Syndrome |
|
Cholestasis, Intrauterine growth retardation, Cryptorchidism, Reduced number of intrahepatic bile... |
ORPHA:52 |
Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Premature skin wrinkling, Hyperglycemia,... |
OMIM:269880 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Fasting hyperinsulinemia, Acute hepatic ... |
ORPHA:71212 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... |
ORPHA:79240 |
Spherocytosis, Type 4 |
|
Jaundice, Splenomegaly |
OMIM:612653 |
Cranioectodermal Dysplasia 2 |
|
Rhizomelia, Portal fibrosis, Biliary cirrhosis, Elevated circulating hepatic transaminase concent... |
OMIM:613610 |
Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Pigment gallstones, Increased circulating lactate dehydrogena... |
ORPHA:232 |
Reynolds Syndrome |
|
Biliary cirrhosis, Elevated circulating hepatic transaminase concentration, Palmar telangiectasia... |
OMIM:613471 |
Fructose Intolerance, Hereditary |
|
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Hepatic steato... |
OMIM:229600 |
Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Decreased liver function, Exocrine pancreatic insufficiency, Splenomegaly, Elevat... |
OMIM:618268 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Portal hypertension,... |
ORPHA:79124 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... |
ORPHA:2089 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Jaundice, Splenomegaly |
ORPHA:90033 |
Bardet-Biedl Syndrome 1 |
|
Insulin resistance, Hepatic fibrosis, Abnormality of the ovary, Decreased testicular size, Hypogo... |
OMIM:209900 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
Joubert Syndrome 8 |
|
Prolonged neonatal jaundice, Hepatomegaly |
OMIM:612291 |
Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Growth delay, ... |
OMIM:614921 |
3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Neonatal hypoglycemia, Growth delay, Neonatal death |
OMIM:617248 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intrauterine growth retardation, Growth delay, Reduced number of intrahepatic bile ducts |
ORPHA:79284 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
OMIM:605911 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Jaundice, Cirrhosis |
ORPHA:57777 |
Niemann-Pick Disease, Type C2 |
|
Splenomegaly, Hepatomegaly, Low cholesterol esterification rate, Prolonged neonatal jaundice, Jau... |
OMIM:607625 |
Niemann-Pick Disease, Type C1 |
|
Splenomegaly, Fatal liver failure in infancy, Prolonged neonatal jaundice, Low cholesterol esteri... |
OMIM:257220 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... |
ORPHA:769 |
Spherocytosis, Type 2 |
|
Jaundice, Splenomegaly |
OMIM:616649 |
Codas Syndrome |
|
Short stature, Extrahepatic biliary duct atresia |
ORPHA:1458 |
Lassa Fever |
|
Jaundice |
ORPHA:99824 |
Elliptocytosis 1 |
|
Jaundice, Splenomegaly |
OMIM:611804 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Erythema, Elevated gamma-glutamyltransferase level, Parotitis, Cholestasis, Ele... |
OMIM:620376 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis |
OMIM:213700 |
Bone Marrow Failure Syndrome 3 |
|
Exocrine pancreatic insufficiency, Intrauterine growth retardation, Cryptorchidism, Hyperechogeni... |
OMIM:617052 |
Wilson Disease |
|
Hepatic failure, Portal fibrosis, Glycosuria, Acute hepatic failure, Elevated circulating asparta... |
OMIM:277900 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormality of t... |
ORPHA:309854 |
Senior-Boichis Syndrome |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... |
ORPHA:84081 |
Rh-Null, Regulator Type |
|
Jaundice |
OMIM:268150 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Hypogonadism, Cryptorchidism, Jaundice, ... |
OMIM:614231 |
Rh Deficiency Syndrome |
|
Jaundice, Hepatosplenomegaly, Increased circulating lactate dehydrogenase concentration, Intraute... |
ORPHA:71275 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH le... |
OMIM:614736 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Postnatal growth retardation, Hyperglycemia, Hyperinsulinemi... |
OMIM:248370 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam... |
OMIM:212138 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Short stature, Jaundice, Hepatosplenomegaly, Postnatal growth retardation |
ORPHA:168577 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... |
ORPHA:247598 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Prolonged neonatal jaundice, Jaundice, Splenomegaly |
OMIM:300908 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly |
OMIM:246400 |
Bohring-Opitz Syndrome |
|
Supernumerary nipple, Intrauterine growth retardation, Mesomelic/rhizomelic limb shortening, Hype... |
OMIM:605039 |
Graft Versus Host Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Elevated circulating... |
ORPHA:39812 |
Familial Adenomatous Polyposis |
|
Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Biliary t... |
ORPHA:733 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Splenomegaly, Neoplasm ... |
ORPHA:77293 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Jaundice |
ORPHA:276 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Cryptorchidism |
OMIM:175700 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Splenomegaly, Hepato... |
OMIM:603553 |
Overhydrated Hereditary Stomatocytosis |
|
Increased circulating lactate dehydrogenase concentration, Splenomegaly, Intermittent jaundice |
ORPHA:3203 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Microvesi... |
OMIM:611126 |
Sepsis In Premature Infants |
|
Decreased liver function, Splenomegaly, Petechiae, Cyanosis, Hepatomegaly, Jaundice, Purpura |
ORPHA:90051 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:267700 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Intrauterine growth retardation, Diabetes mellitus, Hyperglycemia |
OMIM:606176 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... |
OMIM:124000 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Pancreatitis, Hypoglycemia |
OMIM:251000 |
Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Adrenocortical cytomegaly, Renal cortical cysts, Cryptorchidism, Adrenoco... |
OMIM:130650 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Reduced tissue fructose-1,6-bisphosphatase activity, Hypoglycemia |
OMIM:229700 |
Joubert Syndrome With Hepatic Defect |
|
Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Portal hyp... |
ORPHA:1454 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Short statur... |
OMIM:618160 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp... |
OMIM:615453 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Intrauterine growth retardation, Hypergonadotropic hypogonadism |
OMIM:619737 |
Alstrom Syndrome |
|
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Dec... |
OMIM:203800 |
Multiple Endocrine Neoplasia, Type I |
|
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... |
OMIM:131100 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated gamma-glutamyltransferase level, Hepatic failure, Cholestasis, Elevated circulating aspa... |
OMIM:619573 |
Alagille Syndrome 1 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Multiple small medullar... |
OMIM:118450 |
Estrogen Resistance Syndrome |
|
Elevated tissue non-specific alkaline phosphatase, Absence of secondary sex characteristics, Brea... |
ORPHA:785 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre... |
ORPHA:275761 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Short stature, Intrauterine growth retardation, Annular pancreas |
ORPHA:488642 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Jaundice, Intrauterine growth retardation, Growth delay, Hypoglycemia |
ORPHA:79282 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Prolonged neonatal jaundice, Jaundice |
OMIM:274150 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Type I diabetes mellitus, Hepatitis... |
ORPHA:227982 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cryptorchidism, Prolonged neonatal jaundice, Adrenal hypoplasia, Hepatomegaly, Intrahepatic bilia... |
OMIM:214100 |
Cholestasis, Progressive Familial Intrahepatic, 4 |
|
Intrahepatic cholestasis, Hepatic failure, Portal hypertension, Cirrhosis, Hepatocellular carcinoma |
OMIM:615878 |
Neurofibroma |
|