Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Hypertriglyceridemia 2 |
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Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Glycogen Storage Disease Vi |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Pancreatic Lipase Deficiency |
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Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Chylomicron Retention Disease |
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Failure to thrive, Diarrhea, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemi... |
OMIM:246700 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia |
OMIM:610539 |
Low Phospholipid-Associated Cholelithiasis |
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Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe... |
ORPHA:69663 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Hypobetalipoproteinemia, Familial, 1 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Hypercholesterolemia |
OMIM:619855 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Coronary Artery Disease, Autosomal Dominant, 1 |
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Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Morbid Obesity And Spermatogenic Failure |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... |
OMIM:615703 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
Chylomicron Retention Disease |
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Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Diarrhea, Vomiting, Steat... |
ORPHA:71 |
Glycogen Storage Disease Ixa1 |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
Congenital Disorder Of Glycosylation, Type Iip |
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Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Peroxisome Biogenesis Disorder 3B |
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Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H... |
OMIM:266510 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
Hypercholesterolemia, Familial, 4 |
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Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por... |
ORPHA:369 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Hypercholesterolemia, Failure to thrive |
OMIM:615863 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Chronic constipation, Hype... |
OMIM:620211 |
Congenital Disorder Of Glycosylation, Type Iio |
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Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Hyperlipidemia, Familial Combined, 3 |
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Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Cholesteryl Ester Storage Disease |
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Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Diarrhea, Jaundice, Cirrhosis, Hypercholesterol... |
ORPHA:75234 |
Glycogen Storage Disease Ixc |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp... |
OMIM:612526 |
Glycogen Storage Disease Iii |
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Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
Diarrhea 13 |
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Elevated hepatic transaminase, Secretory diarrhea, Recurrent hypoglycemia, Hypoalbuminemia, Vomit... |
OMIM:620357 |
Somatostatinoma |
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Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Diab... |
ORPHA:97283 |
Potocki-Lupski Syndrome |
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Small for gestational age, Oral-pharyngeal dysphagia, Gastroesophageal reflux, Hypocholesterolemi... |
OMIM:610883 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... |
ORPHA:2089 |
Squalene Synthase Deficiency |
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Failure to thrive in infancy, Increased circulating farnesol concentration, Decreased LDL cholest... |
OMIM:618156 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
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Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Acth Deficiency, Isolated |
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Cholestasis, Decreased circulating cortisol level, Fasting hypoglycemia, Jaundice |
OMIM:201400 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Galactokinase Deficiency |
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Hepatomegaly, Small for gestational age, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Incr... |
ORPHA:79237 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hepatomegaly, Hypocholesterolemia |
OMIM:618810 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Cholesteryl Ester Storage Disease |
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Acute hepatic failure, Decreased HDL cholesterol concentration, Vomiting, Hepatic fibrosis, Hepat... |
OMIM:278000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
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Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Hypoglycemia,... |
OMIM:615160 |
Hyperlipoproteinemia, Type I |
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Splenomegaly, Hyperlipidemia, Jaundice, Pancreatitis, Hepatosplenomegaly, Lactescent serum, Vomit... |
OMIM:238600 |
Hyperinsulinism Due To Insr Deficiency |
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Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Apolipoprotein C-Ii Deficiency |
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Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Gallbladder Disease 1 |
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Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Carnitine Palmitoyl Transferase 1A Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure |
ORPHA:156 |
Neonatal Hemochromatosis |
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Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... |
ORPHA:446 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Diarrhea, Decreased LDL... |
ORPHA:96180 |
Citrullinemia, Type Ii, Adult-Onset |
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Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Carnitine Palmitoyltransferase I Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Protoporphyria, Erythropoietic, 1 |
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Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
Hepatic Lipase Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Hemochromatosis, Neonatal |
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Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, Vom... |
OMIM:617872 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula... |
ORPHA:264580 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased circulating free fat... |
ORPHA:79644 |
Abetalipoproteinemia |
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Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Failure to ... |
ORPHA:14 |
Homozygous 11P15-P14 Deletion Syndrome |
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Hypoglycemia, Diarrhea, Hyperinsulinemia, Vomiting, Failure to thrive |
OMIM:606528 |
Congenital Disorder Of Glycosylation, Type Ia |
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Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Diarrhea, Hypoalbuminemia, Vomiti... |
OMIM:212065 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Hypercholesterolemia, Familial, 3 |
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Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Congenital Isolated Acth Deficiency |
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Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure... |
ORPHA:199296 |
Parenteral Nutrition-Associated Cholestasis |
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Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... |
ORPHA:567983 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Glucocorticoid Deficiency 2 |
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Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:607398 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
Budd-Chiari Syndrome |
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Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... |
ORPHA:131 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
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Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Glycogen Storage Disease Ixb |
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Hepatomegaly, Hypoglycemia, Splenomegaly, Diarrhea, Hyperuricemia, Increased hepatic glycogen con... |
OMIM:261750 |
Fanconi-Bickel Syndrome |
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Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as... |
ORPHA:2088 |
Secondary Intestinal Lymphangiectasia |
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Intestinal obstruction, Reduced circulating transferrin concentration, Chronic diarrhea, Intestin... |
ORPHA:90363 |
Pyruvate Dehydrogenase E3 Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha... |
ORPHA:2394 |
Propionic Acidemia |
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Hepatomegaly, Constipation, Hyperammonemia, Hypoglycemia |
ORPHA:35 |
Hypercholesterolemia, Familial, 2 |
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Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Pancreatic Colipase Deficiency |
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Exocrine pancreatic insufficiency, Chronic diarrhea, Cholelithiasis, Steatorrhea |
ORPHA:309108 |
Tangier Disease |
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Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Laron Syndrome |
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Hypercholesterolemia, Hypoglycemia, Truncal obesity |
ORPHA:633 |
Proprotein Convertase 1/3 Deficiency |
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Decreased circulating cortisol level, Reactive hypoglycemia, Diarrhea, Obesity, Hypoinsulinemia |
OMIM:600955 |
Gaisböck Syndrome |
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Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Inc... |
ORPHA:90041 |
Dysbetalipoproteinemia |
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Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
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Hypoglycemia, Diarrhea, Hyperammonemia, Vomiting, Pancreatitis |
OMIM:620137 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Metachromatic Leukodystrophy |
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Gallbladder dysfunction, Cholecystitis |
OMIM:250100 |
Neutral Lipid Storage Myopathy |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pan... |
ORPHA:98908 |
Alg12-Cdg |
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Hyponatremia, Elevated hepatic transaminase, Recurrent hypoglycemia, Gastroesophageal reflux, Hyp... |
ORPHA:79324 |
Infantile Liver Failure Syndrome 2 |
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Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Vom... |
OMIM:616483 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
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Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive |
OMIM:614736 |
Combined Oxidative Phosphorylation Deficiency 40 |
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Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
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Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Mody |
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Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Glycogen Storage Disease Ia |
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Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuric... |
OMIM:232200 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hyperbilirubinemia, Cholelithia... |
OMIM:266200 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin... |
OMIM:251880 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis |
OMIM:235700 |
Gallbladder Neuroendocrine Tumor |
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Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... |
ORPHA:100086 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:617049 |
Kaufman Oculocerebrofacial Syndrome |
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Failure to thrive, Constipation, Hypocholesterolemia |
OMIM:244450 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,... |
OMIM:619418 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ... |
OMIM:261680 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Intestinal obstruction, Biliary tract neo... |
ORPHA:2869 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
Glucocorticoid Resistance, Generalized |
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Increased circulating cortisol level, Hypoglycemia |
OMIM:615962 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... |
ORPHA:86816 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp... |
OMIM:232220 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Dubowitz Syndrome |
|
Episodic vomiting, Chronic diarrhea, Gastroesophageal reflux, Hypocholesterolemia |
OMIM:223370 |
Intrahepatic Cholestasis Of Pregnancy |
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Elevated hepatic transaminase, Small for gestational age, Abnormality of the pancreas, Jaundice, ... |
ORPHA:69665 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Vomiting, Hyp... |
OMIM:615453 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... |
OMIM:617093 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Jaundice, Hyperkalemia, Vomitin... |
ORPHA:90790 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Hypoglycemia, Acute hepatic steatosis, Vomiting, Failure to thrive |
OMIM:210200 |
Smith-Lemli-Opitz Syndrome |
|
Hepatic steatosis, Hepatomegaly, Splenomegaly, Cholestatic liver disease, Gastroesophageal reflux... |
OMIM:270400 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Elevate... |
OMIM:611881 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Hepatoblastoma, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, In... |
OMIM:232240 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating aspart... |
OMIM:256810 |
Triploidy |
|
Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas |
ORPHA:3376 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Diarrhea, En... |
ORPHA:79259 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hyperglycerolemia, Chronic pancrea... |
OMIM:307030 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large... |
OMIM:616026 |
Fucosidosis |
|
Hepatomegaly, Failure to thrive, Abnormality of the gallbladder |
ORPHA:349 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Conjugated hype... |
OMIM:617156 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Gastrointestinal hemorrhage, Acute hepatic failure, Hepatomegaly, Elevated hepa... |
OMIM:276700 |
Rett Syndrome |
|
Increased serum pyruvate, Failure to thrive, Cholecystitis, Hyperammonemia |
ORPHA:778 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Obesity, Hepatosplenomegaly, Chronic constipation, Cholecystitis, Cho... |
OMIM:301066 |
Triosephosphate Isomerase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis, Failure to th... |
OMIM:615512 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Jaundice,... |
OMIM:229600 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Diarrhea, Insulinoma, Increased circu... |
OMIM:131100 |
Genitopalatocardiac Syndrome |
|
Abnormal mesentery morphology, Abnormality of the gallbladder |
ORPHA:2075 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Weight ... |
ORPHA:781 |
Hereditary Hemorrhagic Telangiectasia |
|
Gastrointestinal hemorrhage, Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepat... |
ORPHA:774 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Liver abscess, Diabetes mellitus, Cholangitis, Cholecystitis |
ORPHA:183675 |
Vacterl/Vater Association |
|
Abnormality of the pancreas, Abnormality of the gallbladder |
ORPHA:887 |
Metachromatic Leukodystrophy, Adult Form |
|
Cholecystitis, Bowel incontinence, Neoplasm of the gallbladder |
ORPHA:309271 |
Listeriosis |
|
Liver abscess, Diarrhea, Peritonitis, Jaundice, Hepatic granulomatosis, Vomiting, Cholecystitis, ... |
ORPHA:533 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Cholecystitis |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Cholecystitis |
ORPHA:309263 |
Smith-Lemli-Opitz Syndrome |
|
Abnormality of the gallbladder, Gastroesophageal reflux, Elevated circulating 7-dehydrocholestero... |
ORPHA:818 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Hematemesis... |
ORPHA:99827 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Abnormal mesente... |
ORPHA:449395 |
Kawasaki Disease |
|
Diarrhea, Hepatitis, Cholecystitis, Jaundice |
ORPHA:2331 |
Wolf-Hirschhorn Syndrome |
|
Failure to thrive, Abnormality of the gallbladder, Abdominal situs inversus |
ORPHA:280 |