Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... |
OMIM:232700 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:604091 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In... |
OMIM:619868 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Fish-Eye Disease |
|
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... |
OMIM:614480 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hypercholestero... |
OMIM:615703 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... |
ORPHA:75234 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Red... |
OMIM:612526 |
Glycine N-Methyltransferase Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia |
OMIM:606664 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... |
OMIM:306000 |
Lipase Deficiency, Combined |
|
Pancreatitis, Hypertriglyceridemia |
OMIM:246650 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Attention deficit hyperactivity disorder, Hypercholesterolemia |
OMIM:301033 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Hypertriglyceridemia |
ORPHA:436182 |
Hypertriglyceridemia 1 |
|
Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:145750 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Hypertriglyceridemia |
OMIM:608898 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Hypertriglyceridemia |
ORPHA:71529 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:614025 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... |
OMIM:619874 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc... |
OMIM:300635 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv... |
OMIM:613812 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... |
OMIM:605814 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
OMIM:616516 |
Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... |
OMIM:207750 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... |
OMIM:603471 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... |
OMIM:278000 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles... |
OMIM:607616 |
Hepatocellular Carcinoma |
|
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma |
OMIM:114550 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... |
OMIM:619662 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Hypertriglyceridemia |
OMIM:177000 |
Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... |
OMIM:214900 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J... |
OMIM:603552 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... |
ORPHA:209902 |
Hepatitis Delta |
|
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... |
ORPHA:402823 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Hepatitis |
OMIM:613783 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... |
OMIM:615558 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:140905 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia |
ORPHA:280356 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Attention deficit hyperactivity disorder, Increased C-peptide level, Hypercholesterolemia, Hypera... |
OMIM:620211 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
ORPHA:79303 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Hypertriglyceridemia |
OMIM:613877 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... |
ORPHA:247585 |
Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... |
OMIM:613027 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:620282 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... |
OMIM:608600 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
Galactosemia Iv |
|
Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia |
OMIM:618881 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Increased C-peptide level, Hepatic steatosis, Hypertriglyceridemia |
OMIM:615238 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Galactokinase Deficiency |
|
Small for gestational age, Failure to thrive, Hepatosplenomegaly, Abnormal circulating enzyme con... |
ORPHA:79237 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C... |
ORPHA:60 |
Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... |
OMIM:616000 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology |
ORPHA:2398 |
Cog4-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple... |
ORPHA:263501 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:214950 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Aggressive behavior, Overfriendliness, Hypertriglyceridemia |
OMIM:618010 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep... |
OMIM:619013 |
Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... |
ORPHA:905 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Portal hypertension, Splenomegaly, Biliary tract abnormality, Neonatal cholestati... |
ORPHA:1414 |
Hyperlipoproteinemia, Type Id |
|
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom... |
OMIM:615947 |
Macrophage Activation Syndrome |
|
Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ... |
ORPHA:158061 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... |
OMIM:620010 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Decreased HDL cholesterol conce... |
OMIM:618620 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... |
ORPHA:369 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:235555 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... |
OMIM:620454 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, In... |
ORPHA:247598 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Decreased HDL cholesterol concentration, Increased faci... |
OMIM:151660 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatic steatosis, Cirrhosis, Hyperactivity, Hypertriglyceridemia, Hepatomegaly |
ORPHA:363400 |
Smith-Magenis Syndrome |
|
Head-banging, Onychotillomania, Self-mutilation, Hypercholesterolemia, Hyperactivity, Hypertrigly... |
OMIM:182290 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Splenomegaly, Hepatitis |
ORPHA:444463 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia |
ORPHA:79085 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Hepatic steatosis, Adipose tissue loss, Cirrhosis, Hypercholesterolemia, Lipod... |
ORPHA:528 |
Galactose Mutarotase Deficiency |
|
Failure to thrive, Decreased liver function, Cholestasis, Abnormal circulating enzyme concentrati... |
ORPHA:570422 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevat... |
OMIM:232400 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis |
OMIM:614379 |
Immunodeficiency 114, Folate-Responsive |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:620603 |
Tangier Disease |
|
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... |
OMIM:205400 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... |
ORPHA:567548 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology |
ORPHA:3032 |
Galactosemia Iii |
|
Failure to thrive, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, Jaundice, H... |
OMIM:230350 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Immunodeficiency 104 |
|
Pneumonia, Eczematoid dermatitis, Failure to thrive secondary to recurrent infections, Chronic mu... |
OMIM:608971 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol conc... |
OMIM:604367 |
Lcat Deficiency |
|
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... |
ORPHA:650 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, He... |
ORPHA:412 |
Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis, Hypertriglyceridemia |
ORPHA:435651 |
Hepatic Veno-Occlusive Disease |
|
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Incr... |
ORPHA:890 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... |
ORPHA:79301 |
Wolman Disease |
|
Reduced lysosomal acid lipase activity, Failure to thrive, Acute hepatic failure, Splenomegaly, H... |
OMIM:620151 |
Congenital Isolated Acth Deficiency |
|
Prolonged neonatal jaundice, Decreased circulating cortisol level, Hyponatremia, Hepatitis |
ORPHA:199296 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Porphyria Cutanea Tarda |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... |
ORPHA:101330 |
Trichohepatoenteric Syndrome 2 |
|
Decreased circulating iron concentration, Failure to thrive, Cirrhosis, Chronic hepatitis, Hepato... |
OMIM:614602 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevated circulating ... |
OMIM:615381 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Inte... |
OMIM:611182 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir... |
ORPHA:2137 |
Primary Biliary Cholangitis |
|
Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ... |
ORPHA:186 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f... |
ORPHA:158057 |
Familial Chylomicronemia Syndrome |
|
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea... |
ORPHA:444490 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:264580 |
Immunodeficiency 56 |
|
Hepatic failure, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusi... |
OMIM:615207 |
Autosomal Agammaglobulinemia |
|
Cellulitis, Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Arthritis, Si... |
ORPHA:33110 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice |
ORPHA:172 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age |
ORPHA:2432 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
OMIM:613404 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive |
ORPHA:67046 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... |
OMIM:618549 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, ... |
OMIM:238970 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
Obesity Due To Congenital Leptin Deficiency |
|
Polyphagia, Hypertriglyceridemia |
ORPHA:66628 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level |
OMIM:609016 |
Systemic Primary Carnitine Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration |
ORPHA:158 |
X-Linked Agammaglobulinemia |
|
Cellulitis, Recurrent pneumonia, Hepatitis, Failure to thrive, Osteomyelitis, Hypocalcemia, Skin ... |
ORPHA:47 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hypertriglyc... |
ORPHA:435660 |
Graft Versus Host Disease |
|
Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t... |
ORPHA:39812 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Polyphagia, Hypertriglyceridemia |
ORPHA:179494 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:603278 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal circulating e... |
ORPHA:79240 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Weight loss, Splenomegaly |
ORPHA:79238 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash,... |
OMIM:612714 |
Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir... |
OMIM:210500 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615158 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Inguinal hernia, Steatorr... |
ORPHA:440713 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Abnormality of iron homeostasis |
ORPHA:848 |
Fetal Cytomegalovirus Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J... |
ORPHA:294 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Hepatic steatosis, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat... |
OMIM:208085 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... |
OMIM:602347 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Enamel hypoplasia, Hepatitis |
ORPHA:363523 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplastic spleen, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Hyperlipidemia |
ORPHA:2089 |
Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... |
OMIM:300972 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha... |
ORPHA:64753 |
Fanconi-Bickel Syndrome |
|
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abnormal hepatic ... |
ORPHA:2088 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... |
OMIM:613313 |
Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Contr... |
ORPHA:2457 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice |
OMIM:614876 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... |
ORPHA:86816 |
Bile Acid Conjugation Defect 1 |
|
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... |
OMIM:619232 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Elevated circulating alkaline phosphat... |
OMIM:601847 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Splenomegaly, Hyperuricemia, Cirrhosis, Pancreatitis, Hypertriglyceridemia, He... |
ORPHA:79083 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... |
ORPHA:540 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly |
OMIM:610539 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, H... |
ORPHA:169160 |
Adult-Onset Still Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co... |
ORPHA:829 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Hepatic steatosis, Pancreatitis, Hypertriglyceridemia, Hepatomegaly |
ORPHA:2348 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Decreased plasm... |
OMIM:619048 |
Sandhoff Disease |
|
Hepatomegaly, Splenomegaly, Failure to thrive |
ORPHA:796 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Morgagni-Stewart-Morel Syndrome |
|
Obesity, Hyperuricemia, Hypercholesterolemia, Osteoarthritis, Acne |
ORPHA:77296 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly |
ORPHA:79477 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Acth Deficiency, Isolated |
|
Cholestasis, Decreased circulating cortisol level, Jaundice |
OMIM:201400 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... |
OMIM:619658 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:237800 |
Laron Syndrome |
|
Osteoarthritis, Hypercholesterolemia, Truncal obesity |
ORPHA:633 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatomega... |
OMIM:194380 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased circulating f... |
OMIM:603553 |
Griscelli Syndrome |
|
Hepatitis, Abnormal circulating lipid concentration, Ascites, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:381 |
Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... |
ORPHA:139402 |
Werner Syndrome |
|
Elevated circulating aspartate aminotransferase concentration, Elevated hemoglobin A1c, Elevated ... |
OMIM:277700 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoconjunctiv... |
OMIM:269200 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Transient hyperlipidemia, Hepatic failure, Elevated circulating hepatic transaminas... |
ORPHA:156 |
Smith-Magenis Syndrome |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Hypercholesterolemia, Hypertri... |
ORPHA:819 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula... |
ORPHA:98907 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:275761 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatitis, Failure to thrive, Splenomegaly, Sclerosing cholangitis, Enteroviral encephalitis, Cir... |
OMIM:308230 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... |
ORPHA:562639 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Skin ra... |
OMIM:617591 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... |
OMIM:610717 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul... |
OMIM:614727 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... |
ORPHA:64743 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hep... |
ORPHA:79086 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin |
ORPHA:2924 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Failure to thrive, Elevated circulating creatinine concentration, Hepatic steato... |
OMIM:617872 |
Wolman Disease |
|
Hepatic failure, Ascites, Splenomegaly, Cachexia, Hepatomegaly, Steatorrhea |
ORPHA:75233 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... |
OMIM:618528 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles... |
OMIM:243300 |
Galactosemia I |
|
Increased level of galactitol in red blood cells, Failure to thrive, Decreased liver function, El... |
OMIM:230400 |
Mitochondrial Myopathy, Infantile, Transient |
|
Decreased circulating carnitine concentration, Failure to thrive, Elevated circulating creatine k... |
OMIM:500009 |
Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec... |
OMIM:614921 |
Reni Syndrome |
|
Hypoalbuminemia, Hypertriglyceridemia |
OMIM:617575 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Recurrent otitis media, Obesity, Hypercholesterolemia, Truncal obesity, Small for gestational age |
ORPHA:96184 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... |
OMIM:617394 |
Mhc Class Ii Deficiency 1 |
|
Chronic mucocutaneous candidiasis, Failure to thrive, Biliary tract abnormality, Infectious encep... |
OMIM:209920 |
Isolated Biliary Atresia |
|
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... |
ORPHA:30391 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly |
OMIM:613978 |
Cog7-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatosplenomegaly, E... |
ORPHA:79333 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... |
OMIM:617068 |
Somatostatinoma |
|
Intrahepatic cholestasis, Increased circulating cortisol level, Neoplasm of the pancreas, Intermi... |
ORPHA:97283 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hepatitis, Acute hepatic failure, Failure to thrive in infancy, Hepatosplenomegaly, Hypersplenism... |
ORPHA:228426 |
Melioidosis |
|
Cellulitis, Pneumonia, Hepatitis, Foot osteomyelitis, Cutaneous abscess, Parotitis, Abnormality o... |
ORPHA:31202 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Splenomegaly |
OMIM:606445 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic steatosis, Elevate... |
OMIM:613327 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... |
ORPHA:79095 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexion contract... |
OMIM:248370 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:86893 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
Cryoglobulinemic Vasculitis |
|
Abnormality of the liver, Splenomegaly, Keratoconjunctivitis sicca, Arthritis, Hepatomegaly, Vira... |
ORPHA:91138 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
OMIM:605911 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
ORPHA:98855 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Hyperammonemia, Failure to thrive |
ORPHA:28 |
Seckel Syndrome 10 |
|
Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Elevated circul... |
OMIM:617253 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatitis, Failure to thrive in infancy, Hypersplenism, Portal hypertension, Splenomegaly, Hashim... |
OMIM:613385 |
Lysinuric Protein Intolerance |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Glomerul... |
ORPHA:470 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino... |
OMIM:614582 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration... |
OMIM:605479 |
Gaisböck Syndrome |
|
Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Incre... |
ORPHA:90041 |
Legionnaires Disease |
|
Cellulitis, Hepatitis, Splenomegaly, Infectious encephalitis, Hyponatremia, Pancreatitis, Myocard... |
ORPHA:549 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... |
OMIM:255120 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis, Lipoatrophy |
ORPHA:79084 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Immunodeficiency 48 |
|
Pneumonia, Eczematoid dermatitis, Failure to thrive, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Microtriplication 11Q24.1 |
|
Bruxism, Hyperlipidemia |
ORPHA:289522 |
Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro... |
OMIM:231100 |
Q Fever |
|
Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteomyelitis, Hep... |
ORPHA:781 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom... |
OMIM:266510 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodi... |
OMIM:211600 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly |
OMIM:616719 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Cardiomega... |
OMIM:619064 |
Neutral Lipid Storage Myopathy |
|
Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con... |
ORPHA:98908 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
ORPHA:98863 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hepatic failure, Fetal ascites, Hepatitis, Cholestasis, Hyperammonemia, Skin ras... |
ORPHA:292 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
ORPHA:98853 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... |
ORPHA:37042 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Cholestasis, Decreased circulating cortisol level, Polyphagia, Hyperbilirubinemia |
OMIM:609734 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Ascites, Hepatomegaly, Weight loss |
ORPHA:2198 |
Immunodeficiency 42 |
|
Recurrent aphthous stomatitis, Splenomegaly, Recurrent cutaneous fungal infections, Hepatomegaly,... |
OMIM:616622 |
Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... |
OMIM:616860 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Reduced hepatic ph... |
OMIM:261750 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Portal hyperte... |
OMIM:610199 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati... |
ORPHA:77293 |
Methanol Poisoning |
|
Addictive alcohol use, Hyperlipidemia |
ORPHA:31825 |
Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia |
ORPHA:31150 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circulat... |
OMIM:618805 |
Dubin-Johnson Syndrome |
|
Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice, Conjugated hyperbili... |
ORPHA:234 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Sitosterolemia 1 |
|
Increased circulating lactate dehydrogenase concentration, Hyperapobetalipoproteinemia, Xanthelas... |
OMIM:210250 |
Pfapa Syndrome |
|
Splenomegaly, Infectious encephalitis, Weight loss, Arthritis, Hepatomegaly |
ORPHA:42642 |
Avian Influenza |
|
Hypoalbuminemia, Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, In... |
ORPHA:454836 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Sple... |
OMIM:613489 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... |
OMIM:619418 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated circulating branched chain amino acid concentration, Hepatic failure, Elevated circulati... |
ORPHA:2394 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Failure to thrive, Ulcerative colitis, Xanthe... |
ORPHA:79259 |
Budd-Chiari Syndrome |
|
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... |
ORPHA:131 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczematoid dermatitis, Hepatitis, Failure to thrive, Erythroderma, Glomerulonephritis, Arthritis |
OMIM:304790 |
Xp21 Deletion Syndrome |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:261476 |
Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Cellulitis, Pneumonia, Hepatitis, Fasciitis, Elevated circulating creatinine con... |
ORPHA:36234 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir... |
OMIM:619463 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hepatomegaly, S... |
OMIM:602579 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... |
ORPHA:415 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
OMIM:600649 |
Propionic Acidemia |
|
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hyperammonemia |
ORPHA:35 |
Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... |
ORPHA:53035 |
Mpi-Cdg |
|
Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Decreased liver function, Abnormal circulat... |
ORPHA:79319 |
Retinitis Pigmentosa 59 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive |
OMIM:613861 |
Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia |
OMIM:256300 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Failure to thrive, Enlarged kidney |
OMIM:615285 |
Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... |
OMIM:602390 |
Congenital Toxoplasmosis |
|
Elevated circulating hepatic transaminase concentration, Ascites, Failure to thrive in infancy, C... |
ORPHA:858 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... |
ORPHA:158048 |
Lichen Planopilaris |
|
Hepatitis |
ORPHA:525 |
Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Abnormality of the liver, Decreased circulating carnitine concentration, Mildly ele... |
ORPHA:254864 |
Late-Onset Isolated Acth Deficiency |
|
Hepatitis, Failure to thrive, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, ... |
ORPHA:199299 |
Infantile Liver Failure Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... |
OMIM:615438 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al... |
ORPHA:33402 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Osteoarthritis, Hepat... |
OMIM:606069 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Cholestasis, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Scarring alope... |
ORPHA:59303 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice |
OMIM:613977 |
Aspergillosis |
|
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Sinusitis, Bronchiectasis |
ORPHA:1163 |
Hyperbiliverdinemia |
|
Cholestasis, Elevated circulating biliverdin concentration, Cholelithiasis, Decreased liver function |
OMIM:614156 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Abnormal circu... |
ORPHA:42 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Polypha... |
OMIM:608594 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Flexion contracture, Splenomegaly |
ORPHA:77260 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:100024 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia |
OMIM:618183 |
Alpha-Heavy Chain Disease |
|
Ascites, Hepatomegaly, Splenomegaly, Hypocalcemia |
ORPHA:100025 |
Alstrom Syndrome |
|
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Decrease... |
OMIM:203800 |
Mast Cell Sarcoma |
|
Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:66661 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Abnormality of iron homeostasis, Failure to thrive in infancy, Hepatosplenomega... |
ORPHA:231226 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive |
OMIM:618234 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Abnormal circulating thyroglobu... |
ORPHA:90674 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failur... |
ORPHA:367 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Failure to thrive, Chronic mucocutaneous candidiasis, Skin rash, Sclerosing cholangitis, Decrease... |
ORPHA:572 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly |
OMIM:607685 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Bardet-Biedl Syndrome 20 |
|
Obesity, Elevated circulating hepatic transaminase concentration, Pancreatitis, Hypercholesterolemia |
OMIM:619471 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Polypha... |
OMIM:269700 |
Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Elevated circulating aspartate ... |
OMIM:212140 |
Mucopolysaccharidosis Type 7 |
|
Hepatitis, Umbilical hernia, Ascites, Splenomegaly, Inguinal hernia |
ORPHA:584 |
Amyloidosis, Hereditary Systemic 2 |
|
Cholestasis, Hepatomegaly, Skin rash, Splenomegaly |
OMIM:105200 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Jaundice |
OMIM:235700 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... |
OMIM:251880 |
Cirrhosis, Familial |
|
Biliary cirrhosis, Micronodular cirrhosis, Ascites, Increased level of propylene glycol in blood,... |
OMIM:215600 |
Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Cachexia, Weight loss, Prostatiti... |
ORPHA:2552 |
Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Addictive alcohol use, Hypercholesterolemia |
ORPHA:90065 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Splenomegaly, Lipodystrophy, He... |
OMIM:608776 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Splenomegaly, Hepatic steatosis, Pancreatitis, Hypertrig... |
ORPHA:280365 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Ascites, Hepatomegaly, Portal vein hypoplasia, Hepatic artery hyperplasia |
OMIM:619433 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Unconjugated hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced haptoglobin... |
OMIM:266200 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... |
ORPHA:79302 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Failure to thrive, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Arthritis,... |
ORPHA:397596 |
Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, Hepatomegaly, Chronic oral candidiasis |
OMIM:300400 |
Prader-Willi Syndrome |
|
Self-injurious behavior, Hypertriglyceridemia, Polyphagia, Attention deficit hyperactivity disord... |
OMIM:176270 |
Alagille Syndrome 1 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Exocrine p... |
OMIM:118450 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Megalocornea-Intellectual Disability Syndrome |
|
Motor stereotypy, Hypercholesterolemia |
ORPHA:2479 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Erysipelas, Joint contracture, Elevated circulating creatine kinase concentration |
OMIM:615704 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Decreased beta-glucocerebrosidase level, Splenomegaly, Decreased body weight |
OMIM:231000 |
Wilson Disease |
|
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... |
OMIM:277900 |
Microcephaly, Amish Type |
|
Hepatomegaly, Flexion contracture, Failure to thrive |
OMIM:607196 |
B4Galt1-Cdg |
|
Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the skin, Ab... |
ORPHA:79332 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly |
OMIM:133180 |
Klatskin Tumor |
|
Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis |
ORPHA:99978 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... |
ORPHA:183675 |
Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Hepatitis, Cholestasis, Primary hypercortisolism, Hypophosp... |
ORPHA:562 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Hepatitis, Eczematoid dermatitis, Splenomegaly, Myositis, Elev... |
OMIM:620565 |
Harderoporphyria |
|
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Hepatome... |
OMIM:618892 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Recurrent otitis media, Splenomegaly, Lymphocytic interstitial pneumonia, Hepa... |
OMIM:618495 |
Neuhauser Syndrome |
|
Hypercholesterolemia, Dysphagia |
OMIM:249310 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly |
OMIM:603902 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... |
OMIM:619573 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Hepatic failure, Splenomegaly, Infectious encephalitis, Elevated circulating C-r... |
OMIM:308240 |
Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated... |
ORPHA:400 |
Hypermanganesemia With Dystonia 1 |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... |
OMIM:613280 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Hyperammonemia, Splenomegaly, Pancreatitis, Hepatomegaly |
ORPHA:79312 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased plasma free carnitin... |
ORPHA:157 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino... |
OMIM:615595 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Eczematoid dermatitis, Failure to thrive, Hypocalcemic tetany, Atypical or prolonged h... |
ORPHA:83471 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal dental enamel morphology, Cheilitis, Skin rash, Hepatitis |
ORPHA:1334 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Failure to thrive |
OMIM:615085 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... |
ORPHA:228305 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Splenomegaly |
OMIM:618852 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Increased circulating free fatty acid level, Elevated circulating hepatic transaminase... |
ORPHA:26793 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Rhinitis, Hernia, Splenomegaly |
ORPHA:93476 |
Glycogen Storage Disease Ia |
|
Elevated circulating hepatic transaminase concentration, Xanthelasma, Hyperlipidemia, Hyperuricem... |
OMIM:232200 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... |
OMIM:613070 |
Farber Lipogranulomatosis |
|
Failure to thrive, Splenomegaly, Decreased acid ceramidase activity, Arthritis, Hepatomegaly |
OMIM:228000 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Increased circulating ferritin conce... |
OMIM:615846 |
H Syndrome |
|
Hepatosplenomegaly, Hypertriglyceridemia |
ORPHA:168569 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Low plasma citrulline, Elevat... |
OMIM:261680 |
Immunodeficiency 32B |
|
Hypoalbuminemia, Pneumonia, Failure to thrive, Splenomegaly, Sinusitis, Hepatomegaly, Bronchiectasis |
OMIM:226990 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly, Panniculitis |
ORPHA:33577 |
Leishmaniasis |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Weight lo... |
ORPHA:507 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration |
ORPHA:79292 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia |
OMIM:266150 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia |
ORPHA:199276 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Skin rash, Splenomegaly, Elevated circulating C-reactive protein concentration, Arthritis, Hepato... |
ORPHA:85414 |
Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
OMIM:235200 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Cholelithiasis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Irid... |
OMIM:240300 |
19P13.12 Microdeletion Syndrome |
|
Self-injurious behavior, Hyperlipidemia, Hepatic steatosis, Hyperactivity |
ORPHA:254346 |
Glycerol Kinase Deficiency |
|
Hyperglycerolemia, Chronic pancreatitis, Hypertriglyceridemia |
OMIM:307030 |
Immunodeficiency 7 |
|
Failure to thrive, Recurrent otitis media, Splenomegaly, Hepatomegaly, Chronic oral candidiasis |
OMIM:615387 |
Lipodystrophy, Familial Partial, Type 7 |
|
Failure to thrive, Decreased adipose tissue around neck, Absence of subcutaneous fat, Reduced sub... |
OMIM:606721 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... |
OMIM:607626 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology, Weight loss |
ORPHA:1332 |
Myasthenia Gravis |
|
Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Hepatitis |
ORPHA:589 |
Interstitial Lung And Liver Disease |
|
Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Failure to thrive, C... |
OMIM:615486 |
Ebola Hemorrhagic Fever |
|
Maculopapular exanthema, Acute pancreatitis, Hepatitis |
ORPHA:319218 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen |
OMIM:235400 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Splenomegaly, Synovitis, ... |
ORPHA:77297 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Weight loss, Skin rash, Splenomegaly |
ORPHA:391 |
Metachromatic Leukodystrophy |
|
Gallbladder dysfunction, Cholecystitis |
OMIM:250100 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostatitis, Enteroviral he... |
OMIM:307200 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Splenomegaly, Hepatomegaly |
OMIM:615630 |
Citrullinemia, Classic |
|
Reduced tissue argininosuccinate synthetase activity, Failure to thrive, Hyperammonemia, Hyperglu... |
OMIM:215700 |
Chédiak-Higashi Syndrome |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased circ... |
ORPHA:167 |
Glycogen Storage Disease Ib |
|
Elevated circulating hepatic transaminase concentration, Xanthelasma, Hyperlipidemia, Splenomegal... |
OMIM:232220 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased plasma free carnitin... |
ORPHA:228308 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Generalized lipodystrophy, Splenomegaly, Myositis, Hepatomegaly, Flexion contracture, Panniculitis |
OMIM:619183 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Recurrent sinusitis, Hepato... |
OMIM:607594 |
Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... |
ORPHA:1667 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa... |
OMIM:201475 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated... |
ORPHA:53693 |
Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple... |
OMIM:606003 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Joint contracture of the hand, Foot joint contracture, Failure to thrive, Exocrine pancreatic ins... |
ORPHA:456312 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Septic arthritis, Failure to thrive, Osteomyelitis, Elevated circulating C-reactive protein conce... |
OMIM:619423 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Failure to thri... |
OMIM:227810 |
Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate... |
OMIM:616433 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Elevate... |
OMIM:614887 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Psoriasiform dermatitis, Interface hepatitis, Enterocolitis, Enamel hypoplasia, Omphalocele |
OMIM:243150 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... |
OMIM:201450 |
Heme Oxygenase 1 Deficiency |
|
Nephritis, Increased circulating lactate dehydrogenase concentration, Increased circulating ferri... |
OMIM:614034 |
Prolidase Deficiency |
|
Recurrent pneumonia, Failure to thrive, Eczematoid dermatitis, Elevated circulating aspartate ami... |
OMIM:170100 |
Rett Syndrome |
|
Bruxism, Hyperammonemia, Cholecystitis, Stereotypical hand wringing, Increased serum pyruvate, Mo... |
ORPHA:778 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Cholecystitis, Incre... |
ORPHA:69665 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Large for gestational age, Hypophosphate... |
ORPHA:263455 |
Caroli Syndrome |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
ORPHA:480520 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated gamma-glutamyltransferase level, Elevated circulating creatinine concentration, Hepatic ... |
OMIM:613095 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Increased serum zinc, Skin rash |
OMIM:601979 |
Aredyld Syndrome |
|
Abnormal dental enamel morphology, Splenomegaly, Cachexia, Hepatomegaly, Lipoatrophy |
ORPHA:1133 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:615631 |
Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly |
OMIM:607361 |
Spondyloenchondrodysplasia |
|
Pneumonia, Hepatitis, Skin rash, Arthritis, Juvenile rheumatoid arthritis |
ORPHA:1855 |
Zygomycosis |
|
Cellulitis, Nephritis, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Peritonitis, Enter... |
ORPHA:73263 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He... |
ORPHA:227990 |
Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
Felty Syndrome |
|
Cellulitis, Recurrent pneumonia, Episcleritis, Splenomegaly, Synovitis, Weight loss, Arthritis, S... |
ORPHA:47612 |
Ppoma |
|
Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Increased circulating cort... |
ORPHA:97278 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Elevated circulating hepatic transaminase concentration, Large for gestational age,... |
OMIM:616026 |
Desmoplastic Small Round Cell Tumor |
|
Ascites, Cachexia, Weight loss, Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pan... |
ORPHA:83469 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Failure to thr... |
OMIM:256810 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Pneumonia, Hepatitis, Pustular rash, Recurrent otitis media, Osteomyelitis, Sple... |
OMIM:619381 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypocholesterolemia |
OMIM:618810 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Hepatic failure, Increased circulating cortisol level, Weight loss, Hepatomegaly |
ORPHA:97287 |
Rift Valley Fever |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha... |
ORPHA:319251 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Splenomegaly, Punctate keratitis, Keratoconjunctivitis sicca, Elevated circula... |
OMIM:617388 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Portal hypertension, Splenomegaly, Cardiomegaly, Ch... |
ORPHA:465508 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He... |
ORPHA:227982 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Hypertriglyceridemia |
ORPHA:369837 |
Cystic Fibrosis |
|
Recurrent pneumonia, Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hep... |
OMIM:219700 |
Simple Cryoglobulinemia |
|
Nephritis, Weight loss, Membranoproliferative glomerulonephritis, Arthritis, Pericarditis, Viral ... |
ORPHA:91139 |
Postinfectious Vasculitis |
|
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin lev... |
ORPHA:48435 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Hepatitis, Hypersplenism, Recurrent aphthous stomatitis, Splenomegaly, Gastritis, Glomer... |
ORPHA:3261 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... |
ORPHA:100085 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice |
OMIM:613470 |
Reynolds Syndrome |
|
Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Hyperbil... |
OMIM:613471 |
Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Infl... |
ORPHA:3260 |
Relapsing Polychondritis |
|
Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Episcleritis, Chondriti... |
ORPHA:728 |
Mcleod Syndrome |
|
Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati... |
OMIM:300842 |
Fucosidosis |
|
Failure to thrive, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly, Lipoatrophy |
ORPHA:349 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased circulating cortisol level, Hyperaldosteronism, Hyperlipidemia, Hepatic steatosis, Para... |
ORPHA:189427 |
Acute Disseminated Encephalomyelitis |
|
Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis |
ORPHA:83597 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Splenomegaly, Reduced haptoglobin level, Eleva... |
OMIM:611881 |
Gaucher Disease |
|
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Increased circulating ferritin co... |
ORPHA:355 |
Periodic Fever, Familial, Autosomal Dominant |
|
Erysipelas, Hepatic amyloidosis, Skin rash, Myositis, Oligoarthritis, Hepatomegaly, Conjunctiviti... |
OMIM:142680 |
Gaucher Disease Type 1 |
|
Splenic infarction, Elevated circulating CCL18 level, Cholelithiasis, Hepatic failure, Increased ... |
ORPHA:77259 |
Argininemia |
|
Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Hyperargininemia, Hyperacti... |
OMIM:207800 |
Glycogen Storage Disease Ic |
|
Xanthelasma, Chronic pancreatitis, Hyperlipidemia, Hyperuricemia, Hepatoblastoma, Hepatomegaly, H... |
OMIM:232240 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Splenomegaly, Elevated hepatic iron concentration, ... |
OMIM:615234 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Splenomegaly, Prol... |
OMIM:224120 |
Agammaglobulinemia, X-Linked |
|
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec... |
OMIM:300755 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Elevated gamma-glutamyltransferase level, Cholestasis, Hyperbilirubinemia, Congenital hepatic fib... |
OMIM:619534 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hypertriglyceridemia, Hepatomegaly, Elev... |
OMIM:619127 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hepatitis, Psoriasiform dermatitis, Hashimoto thyroiditis, Omphalocele, Abnor... |
ORPHA:436252 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Splenomegaly, Elevated circulating creatine kinase concentration, Pancreatitis, H... |
ORPHA:565612 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... |
OMIM:615895 |
Argininosuccinic Aciduria |
|
Hepatic fibrosis, Failure to thrive, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:207900 |
Senior-Boichis Syndrome |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... |
ORPHA:84081 |
Vipoma |
|
Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Subc... |
ORPHA:97282 |
Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Ab... |
ORPHA:231222 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Jaundice |
OMIM:185000 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Skin rash, Pustule, Elevated circulati... |
OMIM:612852 |
Reynolds Syndrome |
|
Ascites, Skin rash, Infectious encephalitis, Cirrhosis, Keratoconjunctivitis sicca, Arthritis, He... |
ORPHA:779 |
Kawasaki Disease |
|
Hypoalbuminemia, Hepatitis, Conjunctivitis, Cholecystitis, Skin rash, Arthritis, Myocarditis, Ele... |
ORPHA:2331 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Cholecystitis, Intermittent jaundice, Biliary tract obstruction, Anorexia... |
ORPHA:100086 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Calcinosis |
ORPHA:90154 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Chronic mucocutaneous can... |
ORPHA:391487 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Interstitial pneumonitis, Splenomegaly |
OMIM:620296 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... |
OMIM:615415 |
Abetalipoproteinemia |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... |
ORPHA:14 |
Leptospirosis |
|
Uveitis, Hepatitis, Skin rash, Elevated serum transaminases during infections, Optic neuritis, He... |
ORPHA:509 |
Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Decreased methylmalonyl-CoA mutase activity, Elevated circulating propionylcar... |
OMIM:251110 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Splenomegaly, Pericarditis |
ORPHA:163596 |
Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Ascites, Cardiomegaly, Left ventri... |
ORPHA:57777 |
Acute Liver Failure |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa... |
ORPHA:90062 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:616689 |
Glucagonoma |
|
Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Subc... |
ORPHA:97280 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:614924 |
Joubert Syndrome 8 |
|
Prolonged neonatal jaundice, Hepatomegaly, Obesity |
OMIM:612291 |
Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Bronchiectasis, Failure to thrive, Eczematoid dermatitis, Abnormality of co... |
ORPHA:79128 |
Occipital Horn Syndrome |
|
Atypical scarring of skin, Keloids, Hepatitis, Cholestasis, Esophagitis, Inguinal hernia, Hiatus ... |
ORPHA:198 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia |
OMIM:608612 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancre... |
OMIM:616263 |
Grfoma |
|
Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Increased circulating cort... |
ORPHA:97261 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Eczematoid dermatitis, Psoriasiform dermatitis, Splenomegaly, Crohn's disease... |
OMIM:616100 |
Shwachman-Diamond Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Exocrine pancreatic i... |
OMIM:260400 |
Shwachman-Diamond Syndrome 2 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Stea... |
OMIM:617941 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
Tyrosinemia, Type I |
|
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Hepatic failure, Elevat... |
OMIM:276700 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Increased circ... |
OMIM:309000 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia |
ORPHA:90153 |
Aromatase Deficiency |
|
Hyperlipidemia, Hepatic steatosis |
ORPHA:91 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... |
ORPHA:309854 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom... |
OMIM:233710 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Decreased HDL cholesterol concentration,... |
OMIM:256040 |
Omenn Syndrome |
|
Pneumonia, Failure to thrive, Splenomegaly, Erythroderma, Hepatomegaly, Hypoproteinemia |
OMIM:603554 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Exoc... |
OMIM:557000 |
Primary Sjögren Syndrome |
|
Arteritis, Biliary cirrhosis, Parotitis, Chronic hepatitis, Lymphocytic interstitial pneumonia, M... |
ORPHA:289390 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom... |
OMIM:233690 |
Oculocerebrorenal Syndrome Of Lowe |
|
Atypical scarring of skin, Periodontitis, Failure to thrive, Umbilical hernia, Hyperaldosteronism... |
ORPHA:534 |
Tafro Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Ascites, Hepatosplenomegaly, Splenomeg... |
ORPHA:457077 |
Immunodeficiency 92 |
|
Pneumonia, Osteomyelitis, Esophagitis, Sclerosing cholangitis, Hepatomegaly, Cholangitis |
OMIM:619652 |
Schimke Immuno-Osseous Dysplasia |
|
Hyperlipidemia, Pancreatitis |
ORPHA:1830 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Hepatic failure, Portal hypertension, Cholecystitis, S... |
OMIM:620367 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Increased circulating lactate dehydrogenase concentration, Failure to thrive, Abnormal circulatin... |
ORPHA:308552 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Atopic dermatitis, Failure to thrive,... |
OMIM:620376 |
Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Cirrhosi... |
OMIM:301068 |
Biotinidase Deficiency |
|
Hyperammonemia, Skin rash, Splenomegaly, Seborrheic dermatitis, Decreased circulating biotinidase... |
OMIM:253260 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome... |
OMIM:263200 |
Chronic Granulomatous Disease |
|
Eczematoid dermatitis, Splenomegaly, Otitis media, Inflammatory abnormality of the eye, Sinusitis... |
ORPHA:379 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hyperbilirubinemia, Gout, Splenomegaly, Hepatomegaly, Jaundice, Maculopapular exa... |
ORPHA:822 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Hyperbilirubinemia... |
OMIM:613673 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperoxaluria |
OMIM:601539 |
Hyperparathyroidism, Neonatal Severe |
|
Failure to thrive, Splenomegaly, Hypophosphatemia, Calcinosis, Hepatomegaly, Hypercalcemia |
OMIM:239200 |
Bardet-Biedl Syndrome |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Hyp... |
ORPHA:110 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Elevated circulating hepatic transaminase concentration, Polydipsia, Hyp... |
ORPHA:293987 |
Fructose Intolerance, Hereditary |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hyperbilirubinemia, H... |
OMIM:229600 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis |
ORPHA:391665 |
Diaphanospondylodysostosis |
|
Inguinal hernia, Enlarged kidney, Abnormal liver lobulation |
OMIM:608022 |
Granulomatous Disease, Chronic, X-Linked |
|
Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Ascite... |
OMIM:306400 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Reduced circulating aldolase concentration, Hyperuricemia, Chronic hepatic failu... |
ORPHA:469 |
Myelofibrosis |
|
Hepatomegaly, Splenomegaly |
OMIM:254450 |
Triploidy |
|
Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas |
ORPHA:3376 |
Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... |
ORPHA:1304 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Omphalocele, Hepatomegaly, Enlarged ... |
OMIM:200995 |
Atypical Werner Syndrome |
|
Hepatic steatosis, Hypertriglyceridemia |
ORPHA:79474 |
Alström Syndrome |
|
Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic steatosis, Cirrhosis, Glome... |
ORPHA:64 |
Liver Disease, Severe Congenital |
|
Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepa... |
OMIM:619991 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice |
OMIM:603903 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Abnormality of the gallbladder |
ORPHA:2869 |
Wiedemann-Rautenstrauch Syndrome |
|
Dysphagia, Hypertriglyceridemia |
OMIM:264090 |
Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Joint contracture of the hand, Atypical scarring of skin, Conjunctivitis, Elevate... |
OMIM:263700 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hypercholesterolemia |
ORPHA:273 |
Lujo Hemorrhagic Fever |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
ORPHA:319213 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia |
OMIM:241080 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Cholecystitis, Splenomegaly, Prolonged neonatal jaundice, Jaundice |
OMIM:615512 |
Fabry Disease |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Anorexia |
ORPHA:324 |
Genitopalatocardiac Syndrome |
|
Abnormal mesentery morphology, Abnormality of the gallbladder |
ORPHA:2075 |
Sarcoidosis |
|
Hepatic failure, Bronchiectasis, Decreased liver function, Parotitis, Portal hypertension, Scarri... |
ORPHA:797 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Aggressive behavior, Hepatomegaly, Motor stere... |
OMIM:301066 |
Wiedemann-Rautenstrauch Syndrome |
|
Hepatic steatosis, Hypertriglyceridemia |
ORPHA:3455 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia |
ORPHA:3464 |
Mosaic Trisomy 9 |
|
Asplenia, Camptodactyly of finger, Abnormal liver lobulation |
ORPHA:99776 |
Vacterl/Vater Association |
|
Abnormality of the gallbladder, Abnormality of the pancreas |
ORPHA:887 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Splenic cyst, Decreased body weight, Cardiomegaly, Pancreatitis, S... |
OMIM:620371 |
Igg4-Related Kidney Disease |
|
Decreased retinol-binding protein level, Decreased liver function, Abnormal mesentery morphology,... |
ORPHA:449395 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Cholecystitis |
ORPHA:309256 |
Metachromatic Leukodystrophy, Adult Form |
|
Neoplasm of the gallbladder, Cholecystitis |
ORPHA:309271 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Cholecystitis |
ORPHA:309263 |
Smith-Lemli-Opitz Syndrome |
|
Self-injurious behavior, Abnormality of the gallbladder, Attention deficit hyperactivity disorder... |
ORPHA:818 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatic failure, Cholecystitis, Splenomegaly, Elevated circulating creatine kinase concentration,... |
ORPHA:99827 |
Listeriosis |
|
Cholecystitis, Peritonitis, Hepatic granulomatosis, Splenic abscess, Jaundice, Liver abscess |
ORPHA:533 |
Wolf-Hirschhorn Syndrome |
|
Abnormality of the gallbladder, Abdominal situs inversus |
ORPHA:280 |
Pmm2-Cdg |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:79318 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor... |
ORPHA:774 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Elevated circulating pristanic acid concentration |
OMIM:613724 |