Hepatocellular Carcinoma |
|
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma |
OMIM:114550 |
Cirrhosis, Familial |
|
Cirrhosis, Chronic active hepatitis, Hepatitis |
OMIM:118900 |
Budd-Chiari Syndrome |
|
Cirrhosis, Hepatocellular carcinoma |
OMIM:600880 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:614480 |
Proximal Myopathy With Focal Depletion Of Mitochondria |
|
Elevated circulating creatine kinase concentration |
OMIM:600706 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Elevated circulating creatine kinase concentration |
OMIM:616687 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Myopathy, Vacuolar, With Casq1 Aggregates |
|
Elevated circulating creatine kinase concentration |
OMIM:616231 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis |
OMIM:614379 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Failure to thrive, Cirrhosis, Cholestasis, Hepatic failure, Ele... |
OMIM:617156 |
Halothane Hepatitis |
|
Viral hepatitis, Obesity, Hepatitis, Jaundice |
OMIM:234350 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis |
OMIM:615395 |
Glycogen Storage Disease Xiii |
|
Elevated circulating creatine kinase concentration |
OMIM:612932 |
Myopathy, Distal, Tateyama Type |
|
Elevated circulating creatine kinase concentration |
OMIM:614321 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly |
OMIM:269600 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619658 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Ele... |
ORPHA:79301 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Hepatitis |
OMIM:613783 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Elevated circulating creatine kinase concentration |
OMIM:617232 |
Hemochromatosis Type 4 |
|
Congenital hepatic fibrosis, Hepatic steatosis, Cirrhosis |
ORPHA:139491 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase |
OMIM:613490 |
Porphyria Cutanea Tarda, Type I |
|
Eczema, Hepatic fibrosis |
OMIM:176090 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... |
OMIM:616000 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Elevated cir... |
OMIM:613812 |
Splenoportal Vascular Anomalies |
|
Cirrhosis, Anomalous splenoportal venous system, Hepatic fibrosis, Splenomegaly |
OMIM:271500 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Hepatic steatosis |
OMIM:615595 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... |
OMIM:246700 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased hepatic glycogen content, Truncal obesity, Large for gestational age |
ORPHA:293964 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss, Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating as... |
ORPHA:90003 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated circulating a... |
OMIM:214900 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis |
ORPHA:209919 |
Porphyria Cutanea Tarda |
|
Cirrhosis, Hepatocellular carcinoma |
OMIM:176100 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8 |
|
Elevated circulating creatine kinase concentration |
OMIM:618135 |
Cholestasis, Progressive Familial Intrahepatic, 4 |
|
Hepatocellular carcinoma, Cirrhosis, Hepatic failure, Intrahepatic cholestasis, Portal hypertension |
OMIM:615878 |
Cyanosis And Hepatic Disease |
|
Hepatitis |
OMIM:219400 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Cirrhosis, Hepatic fibrosis, Cholestasis |
OMIM:609313 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Cirrhosis, Elevated hepatic transaminase |
OMIM:613313 |
Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Benign Recurrent Intrahepatic Cholestasis |
|
Acholic stools, Hepatocellular carcinoma, Weight loss, Pancreatitis, Cholelithiasis, Cholestatic ... |
ORPHA:65682 |
Fadd-Related Immunodeficiency |
|
Decreased liver function, Hepatic fibrosis |
ORPHA:306550 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Hypoalbuminemia |
ORPHA:88643 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Cholestasis, Hepatic failure, Prolonged neo... |
OMIM:231100 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Failure to t... |
ORPHA:369 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... |
OMIM:617394 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Elevated hepat... |
OMIM:301045 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly |
OMIM:616719 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:600351 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Splenomegaly, Hepatic failure, Elevated hepatic ... |
OMIM:616278 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... |
OMIM:602347 |
Gallbladder Disease 1 |
|
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Elevated cir... |
OMIM:600803 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice |
ORPHA:60 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Elevated circulating alanine aminotransferase concentration, Hepatic bridging fibrosis, Portal in... |
OMIM:613759 |
Immunodeficiency 56 |
|
Cholangitis, Bronchiectasis, Failure to thrive, Recurrent otitis media, Cirrhosis, Recurrent pneu... |
OMIM:615207 |
Wilson Disease |
|
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Arthritis, Acute hepatitis, Splenomegaly... |
ORPHA:905 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Cirrhosis, Portal hypertension, Hepatic failure |
OMIM:210050 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Spleno... |
OMIM:616828 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... |
OMIM:210500 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Cirrhosis, Elevated circ... |
OMIM:601847 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... |
OMIM:619662 |
Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Congenital hepatic fibrosis |
ORPHA:446 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Retinitis Pigmentosa 89 |
|
Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis, Hepatic fibrosis |
OMIM:618955 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Ele... |
OMIM:603471 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Failure to thrive, Splenomegaly, Cirrhosis, H... |
OMIM:607765 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Hepatic steatosis, Elevated circulating alkaline phosphatase concentrat... |
OMIM:616829 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice |
ORPHA:75234 |
Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis |
OMIM:616217 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:79302 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Elevated gamma-glutamyltransferase level, Increased hepatic echogenicity, Hepatic f... |
OMIM:278000 |
Autosomal Erythropoietic Protoporphyria |
|
Cirrhosis, Eczema, Decreased liver function, Cholelithiasis |
ORPHA:79278 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive,... |
OMIM:256810 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hepatic fai... |
OMIM:214950 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Failure to thrive, Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase |
OMIM:617093 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Cirrhosis, Hepatic failure |
OMIM:602579 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Failure to thrive, Elevated gamma-glutamyltransferase level, Eleva... |
OMIM:619484 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Hepatomegaly, Osteoarthritis, Hepatic steatosis |
OMIM:606069 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Small for gestational age, Failure to thrive, Hepatitis, Cirrhosis, Colitis |
OMIM:614602 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Elevated circulating alkaline phosphata... |
OMIM:613489 |
Senior-Loken Syndrome 9 |
|
Obesity, Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis |
OMIM:616629 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Hepatic steatosis |
OMIM:617872 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis |
OMIM:601466 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Cirrhosis, Myeloid leukemia, Leukemia |
OMIM:614743 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Failure to thrive, Intrahepatic cholestasis, Cirrhosis |
OMIM:605814 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Multiple lipomas, Splenomegaly, Cirrhosi... |
ORPHA:1414 |
Gracile Syndrome |
|
Cirrhosis, Hepatic steatosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Craniosynostosis, Hypophosphatemia, Increased bone mineral density, Hypophosphatemic ric... |
OMIM:241520 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Small for gestational age, Cholelithiasis, Splenomegaly, Biliary ... |
ORPHA:567983 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hepatic steatosis, Abdominal obesity |
OMIM:615980 |
Cirrhosis, Familial |
|
Micronodular cirrhosis, Jaundice |
OMIM:215600 |
Combined Oxidative Phosphorylation Deficiency 26 |
|
Failure to thrive, Cirrhosis |
OMIM:616539 |
Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis, Elevated hepatic transaminase |
OMIM:619111 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hepatic steatosis |
OMIM:615238 |
Interstitial Lung Disease 2 |
|
Cirrhosis, Alveolar cell carcinoma |
OMIM:178500 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Hepatic necrosis, Hepatic fibrosis |
ORPHA:33402 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Hepatomegaly, Arthritis, Splenomegaly |
OMIM:602390 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin |
ORPHA:86816 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatosplenomegaly, Hepatic fibrosis |
ORPHA:466794 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Peritonitis, Weight loss, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecyst... |
ORPHA:131 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasi... |
OMIM:211600 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Hepatic steatosis, Choleste... |
ORPHA:209902 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas |
ORPHA:3032 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... |
OMIM:613027 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Hepatitis, Splenomegaly |
ORPHA:444463 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis |
OMIM:232400 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Ulcerative colitis, Hepatocellular carcinoma, Fulminant hepa... |
ORPHA:2137 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Morbid Obesity And Spermatogenic Failure |
|
Obesity, Hepatic steatosis |
OMIM:615703 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Splenomegaly, R... |
OMIM:300635 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Elevated circulating creatine kinase concentration, Flexion contracture |
OMIM:300717 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Elevated hepatic iron concentration, Splenomegaly, Cirrhosis, Hepatosplenomegaly, E... |
OMIM:616860 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Decreased liver function, Abnormal enzyme/coen... |
ORPHA:79319 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Osteoporosis, Hypophosphatemia, Hypomagnesemia, Hypocalcemia |
ORPHA:398063 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Hemochromatosis, Type 3 |
|
Cirrhosis, Arthritis, Elevated hepatic transaminase |
OMIM:604250 |
Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Small for gestational age, Failure to thrive, Bile duct proliferati... |
ORPHA:30391 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Macrovesicular hepatic steatosis, Acute hepatic f... |
OMIM:613070 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Elevated circulating creatine kinase concentration |
OMIM:606768 |
Caroli Disease |
|
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Weight loss, Cholelithiasis, Spl... |
ORPHA:53035 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cirrhosis |
OMIM:613987 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Cholecystitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstr... |
ORPHA:69663 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Osteopenia |
OMIM:610539 |
Glycogen Storage Disease Iv |
|
Failure to thrive, Cirrhosis, Hepatosplenomegaly, Hepatic failure, Portal hypertension |
OMIM:232500 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... |
OMIM:267700 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis |
OMIM:613877 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis |
ORPHA:436182 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Failure to thrive, Depletion of mitochondrial DNA in liver... |
OMIM:251880 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Failure to thrive, Decreased liver function, Hepatic steatosis, Cholestasis, Ele... |
OMIM:614300 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Failure to thrive, Erythroderma, Cirrhosis, Conjunctivitis |
OMIM:242150 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Hypoalbuminemia |
OMIM:614441 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... |
ORPHA:247585 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:610717 |
Galactosemia I |
|
Failure to thrive, Hepatomegaly, Decreased liver function, Cirrhosis |
OMIM:230400 |
Nephronophthisis 16 |
|
Hepatic fibrosis, Cholestasis |
OMIM:615382 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Meckel Syndrome, Type 3 |
|
Bile duct proliferation, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis |
OMIM:607361 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Elev... |
OMIM:617049 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age |
ORPHA:2432 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Failure to thrive, Hepatic steatosis, Elevated circulating alanine aminotransferase... |
OMIM:619048 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Flexion contracture |
OMIM:617072 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... |
OMIM:619481 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia, Flexion contracture |
OMIM:608093 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic failure, Obesity |
OMIM:615630 |
Transaldolase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Small for gestational age, Failure to thrive, Micronodular cirrho... |
OMIM:606003 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... |
ORPHA:64753 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis, Obesity |
ORPHA:2377 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Elevated circulating creatine kinase concentration |
OMIM:160570 |
Transaldolase Deficiency |
|
Cirrhosis, Hepatosplenomegaly |
ORPHA:101028 |
Hemochromatosis Type 2 |
|
Congenital hepatic fibrosis, Abnormality of endocrine pancreas physiology, Elevated hepatic trans... |
ORPHA:79230 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Adrenomyodystrophy |
|
Hepatic steatosis, Pituitary corticotropic cell adenoma |
OMIM:300270 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... |
OMIM:618641 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis |
ORPHA:79084 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Tubulointerstitial nephritis, Failure to thrive, Elevated gamma-glutamyltransferase... |
OMIM:614582 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Osteoporosis, Gout, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610947 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Giant cell hepatitis, Cholelithiasis, Jaundice |
OMIM:214980 |
Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Failure to thrive, Hepatic steatosis, Acute hepatic failure, Elevated hepatic trans... |
OMIM:615438 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Cog4-Cdg |
|
Failure to thrive in infancy, Fatal liver failure in infancy, Cirrhosis, Hepatosplenomegaly, Elev... |
ORPHA:263501 |
Galactosemia |
|
Hepatomegaly, Failure to thrive, Cirrhosis, Hepatic failure, Abnormal enzyme/coenzyme activity, E... |
ORPHA:352 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Joint hypermobility, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Fulminant hepatitis, Hepatic failure, Elevated hepatic transaminase, Hashimoto thyr... |
OMIM:618549 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... |
ORPHA:79303 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:3156 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... |
OMIM:616516 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Elevated gamma-glutamyltransferase level, Cirr... |
OMIM:615486 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Elevated circulating... |
OMIM:618805 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hepatic steatosis |
ORPHA:26792 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Failure to thrive, Hep... |
ORPHA:370 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
OMIM:240900 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interface hepatit... |
ORPHA:562639 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Hypermanganesemia With Dystonia 1 |
|
Cirrhosis, Hepatomegaly, Decreased liver function, Elevated hepatic transaminase |
OMIM:613280 |
Joubert Syndrome 9 |
|
Hepatic fibrosis |
OMIM:612285 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Increased body weight, Jaundice |
ORPHA:890 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cirrhosis, Hepatic steatosis, Hepatomegaly |
ORPHA:363400 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal erythrocyte enzyme level, Hepatic fibrosis, Portal fibrosis, Failure to th... |
ORPHA:264580 |
Nephronophthisis 15 |
|
Obesity, Hepatic failure |
OMIM:614845 |
Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... |
ORPHA:166119 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Immunodeficiency 61 |
|
Recurrent otitis media, Arthritis, Obesity, Recurrent sinusitis, Colon cancer |
OMIM:300310 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Obesity, Childhood-onset truncal obesity, Cholestasis |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Obesity, Childhood-onset truncal obesity, Cholestasis |
ORPHA:71526 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:208920 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Adams-Oliver Syndrome 6 |
|
Portal hypertension, Hepatic fibrosis |
OMIM:616589 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Stomatitis, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Chronic hepatiti... |
OMIM:308230 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia |
ORPHA:79320 |
Porphyria Cutanea Tarda |
|
Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Hepatic lobular... |
ORPHA:101330 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Macronodular cirrhosis |
OMIM:215250 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Chronic hepatitis, Hepatitis, Chronic mucocutaneous candidiasis, Cirrhosis, Thymoma, Ex... |
OMIM:269200 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Failure to thrive, Cirrhosis, Decreased liver function, Hepatosplenomegaly, Hepatic... |
ORPHA:367 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:256450 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Cirrhosis, Myeloid leukemia, Myelodysplasia |
OMIM:614742 |
Alg1-Cdg |
|
Limitation of joint mobility, Hypoalbuminemia |
ORPHA:79327 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis |
ORPHA:79087 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Cholestasis |
OMIM:609734 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splenomegaly, Abnormal liver... |
ORPHA:64743 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... |
OMIM:603553 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis |
OMIM:615415 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Osteoporosis, Steatorrhea |
OMIM:266510 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration |
OMIM:616834 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss, Cirrhosis, Macrovesicular hepatic steatosis, Elevated hepatic transaminase |
ORPHA:298 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Bronchiectasis, Failure to thrive, Verrucae, Chronic otitis media, Hepatitis, Arthriti... |
ORPHA:33110 |
Immunodeficiency 27A |
|
Salmonella osteomyelitis, Hypoalbuminemia |
OMIM:209950 |
Primary Biliary Cholangitis |
|
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Hepatitis,... |
ORPHA:186 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the lung, Weight loss, Abnormal liver parenchyma morphology, Medullary thyroid carcin... |
ORPHA:1332 |
Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Hepatic steatosis |
OMIM:604367 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... |
ORPHA:567548 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:601820 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:264470 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Elevated hepatic transaminase |
OMIM:235200 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... |
ORPHA:26793 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
Reynolds Syndrome |
|
Keratoconjunctivitis sicca, Hepatomegaly, Infectious encephalitis, Arthritis, Cirrhosis, Skin ras... |
ORPHA:779 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia |
ORPHA:90362 |
Caroli Syndrome |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... |
ORPHA:480520 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Camptodactyly, Hypoalbuminemia |
OMIM:608104 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
ORPHA:369840 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:612526 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Failure to thrive, Cirrhosis, Hepatic steatosis, Proportionate tall stature |
ORPHA:528 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... |
ORPHA:171 |
Meckel Syndrome, Type 6 |
|
Bile duct proliferation, Cystic liver disease, Hepatic fibrosis |
OMIM:612284 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Flynn-Aird Syndrome |
|
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... |
OMIM:136300 |
Immunodeficiency 47 |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Failure to thrive, Splenomegaly, C... |
OMIM:300972 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:232700 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatocellular adenoma, Splenomegaly, C... |
ORPHA:79240 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Inflammation of the large intestine, Failure to thrive, Splenomegaly, Cirrhosis, El... |
OMIM:614576 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated circulating aspartate aminotransferase concentration, Failure to thrive in infancy, Inte... |
OMIM:611182 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Cholestasis |
OMIM:266920 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Carcinoma Of Esophagus |
|
Barrett esophagus, Obesity, Weight loss, Esophageal neoplasm |
ORPHA:70482 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Portal fibrosis, Hepatic fibrosis, Failure to thrive, Weight lo... |
OMIM:619377 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Hepatomegaly, Cholestasis, Macrovesicular hepatic steatosis |
OMIM:614924 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cholangitis, Failure to thrive in infancy, Hepatitis, Cirrhosis, Hepatosplenomegaly, Hypersplenis... |
ORPHA:228426 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Pancreatitis, Ele... |
OMIM:619386 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Juvenile rheumatoid arthritis, Hypertriglyceridemia... |
ORPHA:158061 |
Macrocephaly/Autism Syndrome |
|
Obesity, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Failure to thrive, Cholestatic liver disease, Elevated hepatic transaminase... |
OMIM:613404 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Erythroderma, Pneumonia, Failure to thrive secondary to recurrent infections, Chronic oral candid... |
ORPHA:169160 |
Adenocarcinoma Of The Esophagus |
|
Barrett esophagus, Obesity, Esophageal carcinoma |
ORPHA:99976 |
Coach Syndrome 1 |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Cirrhosis, Intrahepatic bile duct dilatation, Eleva... |
OMIM:216360 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones |
ORPHA:564003 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Recurrent cutaneous abscess formation, Failure to thrive, Chronic otitis media, Weight... |
ORPHA:47 |
Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
Carnitine Deficiency, Systemic Primary |
|
Decreased carnitine level in liver, Hepatomegaly, Failure to thrive, Hepatic steatosis, Elevated ... |
OMIM:212140 |
Peroxisome Biogenesis Disorder 1B |
|
Cirrhosis, Hepatomegaly, Hepatic fibrosis |
OMIM:601539 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... |
ORPHA:2790 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... |
ORPHA:566943 |
Beta-Thalassemia |
|
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly |
ORPHA:848 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Esophagitis, Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Hepatic failur... |
ORPHA:541423 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Bardet-Biedl Syndrome |
|
Obesity, Hepatic fibrosis |
ORPHA:110 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Steatorrhea, Hypoalbuminemia |
ORPHA:2070 |
Primary Lipodystrophy |
|
Cirrhosis, Hepatic steatosis, Pancreatitis, Splenomegaly |
ORPHA:90970 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Obesity, Abnormal enzyme/coenzyme activity |
ORPHA:171706 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Weight loss, Arthritis, Splenomegaly,... |
ORPHA:465508 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Adrenomyodystrophy |
|
Failure to thrive, Hepatic steatosis |
ORPHA:977 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Senior-Boichis Syndrome |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Congenital hepatic fibrosis, Cirrhosi... |
ORPHA:84081 |
Ddost-Cdg |
|
Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase |
ORPHA:300536 |
Myopathy Due To Malate-Aspartate Shuttle Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:254960 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... |
ORPHA:88618 |
Squalene Synthase Deficiency |
|
Hypocholesterolemia, Increased circulating farnesol concentration, Knee flexion contracture, Elev... |
OMIM:618156 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Cholelithiasis, Sple... |
ORPHA:231222 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Infectious encephalitis, Colitis, Failure to thrive, Chronic mucocutaneous candidias... |
OMIM:209920 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
Wilson Disease |
|
Hepatomegaly, Hepatocellular carcinoma, Cirrhosis, Hepatic failure, Osteoarthritis, Atypical or p... |
OMIM:277900 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... |
ORPHA:247598 |
Bardet-Biedl Syndrome 21 |
|
Elevated hepatic transaminase, Obesity, Overweight |
OMIM:617406 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Pustule, Inters... |
ORPHA:139402 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Truncal obesity |
OMIM:618160 |
Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3152 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Astrocytoma, Panniculitis, Lymphoma, Cirrhosis, Hepatic steatosis, Acute pancreatitis |
ORPHA:79086 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Fulminant hepatic failure, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA dehyd... |
OMIM:231530 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis |
ORPHA:79083 |
Adult-Onset Still Disease |
|
Myocarditis, Hepatomegaly, Pericarditis, Hepatitis, Arthritis, Splenomegaly, Skin rash, Elevated ... |
ORPHA:829 |
Dpm1-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Hepatosplenomegaly, Elevate... |
ORPHA:79322 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Macrovesicular hepatic steatosis, Hepatomegaly, Increased circulating lactate dehydrogenase conce... |
OMIM:600649 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Duchenne And Becker Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Joint stiffness, Reduced bone mineral density |
ORPHA:262 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly, Jaundice |
OMIM:194380 |
Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
Macrosomia Adiposa Congenita |
|
Obesity, Large for gestational age, Adrenocortical adenoma |
OMIM:248100 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Hepatic steatosis, Decreased liver function, Abnormal enzyme/coenzyme activity |
ORPHA:70472 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hepatocellular necrosis, Hepatic steatosis, Necrotizing enterocolitis, Periportal f... |
OMIM:201475 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Failure to thrive, Hepatomegaly, Decreased liver function, Acute hepatitis |
OMIM:238970 |
Melioidosis |
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Abnormality of the spleen, Splenic abscess, Pneumonia, Prostatitis, Hepatitis, Septic arthritis, ... |
ORPHA:31202 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
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Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
Johanson-Blizzard Syndrome |
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Hypoproteinemia |
ORPHA:2315 |
Dimethylglycine Dehydrogenase Deficiency |
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Elevated circulating creatine kinase concentration |
ORPHA:243343 |
Lichen Planopilaris |
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Neoplasm of the oral cavity, Hepatitis |
ORPHA:525 |
Dominant Beta-Thalassemia |
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Failure to thrive in infancy, Hepatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Cirrhosis... |
ORPHA:231226 |
Congenital Isolated Acth Deficiency |
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Prolonged neonatal jaundice, Hepatitis |
ORPHA:199296 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... |
OMIM:610199 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
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Giant cell hepatitis, Failure to thrive, Cholestatic liver disease, Elevated hepatic transaminase... |
OMIM:208085 |
Melorheostosis |
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Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... |
ORPHA:2485 |
Nephronophthisis 3 |
|
Hepatic fibrosis |
OMIM:604387 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive, Bile duct proliferation, Micro... |
OMIM:203700 |
Donohue Syndrome |
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Pancreatic islet-cell hyperplasia, Severe failure to thrive, Hepatic fibrosis, Cholestasis |
OMIM:246200 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Aicardi-Goutieres Syndrome 9 |
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Hepatomegaly, Pericarditis, Hepatic fibrosis, Failure to thrive, Weight loss, Hepatic steatosis, ... |
OMIM:619487 |
Citrullinemia, Classic |
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Failure to thrive, Hepatomegaly, Cirrhosis |
OMIM:215700 |
Chylomicron Retention Disease |
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Failure to thrive, Hepatic steatosis, Increased hepatocellular lipid droplets, Elevated hepatic t... |
ORPHA:71 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Ankylosis, Hydroxyprolinemia, Osteoporosis, Hyperuricemia, Increased bone mineral density, Recurr... |
OMIM:239000 |
Joubert Syndrome With Hepatic Defect |
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Hepatomegaly, Intrahepatic biliary atresia, Congenital hepatic fibrosis, Neoplasm of the liver, S... |
ORPHA:1454 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
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Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:201450 |
Pierson Syndrome |
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Hypoproteinemia |
OMIM:609049 |
Bardet-Biedl Syndrome 10 |
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Obesity |
OMIM:615987 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Microvesicular hepatic steatosis, Failure to thrive in infancy, Hepatomegaly, Macronodular cirrho... |
OMIM:619418 |
Dimethylglycine Dehydrogenase Deficiency |
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Elevated circulating creatine kinase concentration, Elevated circulating N,N-dimethylglycine conc... |
OMIM:605850 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
Carnitine Palmitoyltransferase I Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:255120 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Pancreatic cysts, Hepatic cysts, Splenomegaly, Portal hypertension, Periportal fibr... |
OMIM:263200 |
Bardet-Biedl Syndrome 5 |
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Obesity |
OMIM:615983 |
Cryoglobulinemic Vasculitis |
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Keratoconjunctivitis sicca, Hepatomegaly, Arthritis, Splenomegaly, Abnormality of the liver, Vira... |
ORPHA:91138 |
Chronic Bilirubin Encephalopathy |
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Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Congenital Disorder Of Glycosylation, Type It |
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Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatitis, Recur... |
OMIM:614921 |
Syndromic X-Linked Intellectual Disability 7 |
|
Obesity |
ORPHA:85274 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hypocholesterolemia, Osteopenia, Flexion contracture, Hypoalbuminemia |
OMIM:212065 |
Bardet-Biedl Syndrome 6 |
|
Obesity |
OMIM:605231 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cachexia, Decreased liver function, Hepatic steatosis, Abnormal lactate dehydrogena... |
ORPHA:42 |
Mental Retardation, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Adams-Oliver Syndrome |
|
Failure to thrive, Congenital hepatic fibrosis, Portal hypertension, Cirrhosis |
ORPHA:974 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Abnormal enzyme/coenzyme activit... |
ORPHA:79095 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Obesity, Eczema |
ORPHA:3055 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Failure to thrive, Myositis, Fasciit... |
ORPHA:39812 |
Central Precocious Puberty |
|
Overgrowth, Hypothalamic hamartoma, Acne, Obesity, Increased body weight |
ORPHA:759 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Saccharopinuria |
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Hypercystinemia, Elevated plasma citrulline, Hyperammonemia, Abnormality of circulating enzyme le... |
ORPHA:3124 |
Hyperostosis Frontalis Interna |
|
Obesity, Elevated circulating alkaline phosphatase concentration |
OMIM:144800 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Immune Deficiency Disease |
|
Cholangitis, Fulminant hepatitis |
OMIM:242850 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Bardet-Biedl Syndrome 16 |
|
Obesity, Recurrent otitis media |
OMIM:615993 |
Tyrosinemia, Type I |
|
Hepatomegaly, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Pancreatic islet-cell hy... |
OMIM:276700 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity, Osteoarthritis |
ORPHA:2206 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Pancreatic fibrosis |
OMIM:616263 |
Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Hypocalcemia, Rec... |
ORPHA:53 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Reduced carnitine O-palmitoyltransferase level, Hepatic steatosis, Hepatic failure,... |
ORPHA:228305 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Beta-Thalassemia Major |
|
Hepatomegaly, Failure to thrive in infancy, Hepatic fibrosis, Hepatocellular carcinoma, Splenomeg... |
ORPHA:231214 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:618183 |
Pseudohypoparathyroidism Type 1B |
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Increased bone density with cystic changes, Hypocalcemic tetany, Hypocalcemic seizures, Diaphysea... |
ORPHA:94089 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity |
OMIM:264010 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Biliary tract obstruction, Splenomegaly, Cirrhosis, Hypersplenism, Osteoarthritis |
ORPHA:77259 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hepatic failure, Hepatic steatosis |
OMIM:261680 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Erythroderma, Failure to thrive, Hepatitis, Arthritis, Glomerulonephritis |
OMIM:304790 |
Intermediate Osteopetrosis |
|
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... |
ORPHA:210110 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Elevated circulating creatine kinase concentration, Decreased LDL cholesterol concentration, Hypo... |
ORPHA:96180 |
Dysplastic Cortical Hyperostosis |
|