Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... |
OMIM:232700 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:615703 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... |
OMIM:306000 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:610717 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... |
OMIM:605814 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa... |
OMIM:607616 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... |
OMIM:603552 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemi... |
OMIM:278000 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis |
ORPHA:280356 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level |
OMIM:615238 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:300635 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia |
OMIM:608600 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:620282 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:613101 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia |
ORPHA:329249 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste... |
ORPHA:71 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:79085 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic... |
OMIM:619013 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Hyp... |
ORPHA:263501 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Portal fibrosis, Hepatic fibrosis, C... |
ORPHA:369 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... |
ORPHA:567548 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Cirrhosis, Hepatic ... |
OMIM:604367 |
Galactokinase Deficiency |
|
Hepatomegaly, Hepatosplenomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hyp... |
ORPHA:79237 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:232400 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Cirrhosis |
ORPHA:363400 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... |
ORPHA:158057 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating alanine a... |
OMIM:615381 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Cirrhosis, Hypercholesterolemia, Hepatic steatosis, Increased... |
ORPHA:528 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:264580 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce... |
ORPHA:435660 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Recurrent... |
ORPHA:444490 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:2088 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... |
ORPHA:540 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... |
OMIM:300972 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Cirrhosis, Hepatic steatosis, Pa... |
ORPHA:79083 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia |
OMIM:619313 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Hepatic steatosis, Elevated circulating... |
OMIM:615980 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul... |
OMIM:603553 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia |
ORPHA:2089 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Elevated hem... |
OMIM:277700 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Splenomegaly, Xanthel... |
OMIM:210250 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis |
OMIM:235700 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Cirrhosis, Abnormal circulating lipid con... |
ORPHA:79086 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm... |
ORPHA:98907 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... |
ORPHA:97283 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
OMIM:151660 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia |
ORPHA:66628 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice |
ORPHA:79477 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia |
ORPHA:179494 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hyperbilirubinemia, Cholelithia... |
OMIM:266200 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Transient hyperlipidemia |
ORPHA:156 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate... |
OMIM:617253 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Hyperproteinemia, Increased circulating renin level, Hyperuri... |
ORPHA:90041 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act... |
OMIM:203800 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:617591 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg... |
OMIM:619418 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:261 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypersplenism, Splen... |
ORPHA:77293 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,... |
ORPHA:470 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Immunodeficiency 97 With Autoinflammation |
|
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:619802 |
Tangier Disease |
|
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:613327 |
Metachromatic Leukodystrophy |
|
Gallbladder dysfunction, Cholecystitis |
OMIM:250100 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Abnormal... |
ORPHA:98908 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... |
ORPHA:158048 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Hypercholesterolemia, Pancreatitis |
OMIM:619471 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prol... |
ORPHA:90674 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatocellular adenoma, Xanthelasma, Hyperuri... |
ORPHA:79259 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepati... |
ORPHA:280365 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia, Hepatomegaly |
OMIM:248370 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduc... |
OMIM:118450 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia |
ORPHA:289522 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
OMIM:619573 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... |
OMIM:608594 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Elevate... |
OMIM:611881 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Cholecystitis, Increased se... |
ORPHA:69665 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis |
OMIM:307030 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circulating ferritin... |
ORPHA:167 |
Methanol Poisoning |
|
Hyperlipidemia |
ORPHA:31825 |
H Syndrome |
|
Hypertriglyceridemia, Hepatosplenomegaly |
ORPHA:168569 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepatoce... |
OMIM:232200 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, X... |
OMIM:232220 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Biliary t... |
ORPHA:100086 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:228308 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Macro... |
OMIM:619127 |
Triploidy |
|
Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas |
ORPHA:3376 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia |
ORPHA:199276 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619534 |
Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder |
ORPHA:2869 |
Rett Syndrome |
|
Increased serum pyruvate, Cholecystitis, Hyperammonemia |
ORPHA:778 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Incre... |
ORPHA:189427 |
19P13.12 Microdeletion Syndrome |
|
Hyperlipidemia, Hepatic steatosis |
ORPHA:254346 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepatocellular ca... |
OMIM:232240 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia, Recurrent pancreatitis |
OMIM:606721 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis |
ORPHA:391665 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... |
OMIM:256040 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Triosephosphate Isomerase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis |
OMIM:615512 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder |
ORPHA:349 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, P... |
ORPHA:565612 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia |
ORPHA:534 |
Genitopalatocardiac Syndrome |
|
Abnormal mesentery morphology, Abnormality of the gallbladder |
ORPHA:2075 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia |
ORPHA:90154 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Hypercholesterolemia, Cholelithiasis |
ORPHA:273 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia |
OMIM:608612 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Abnorma... |
ORPHA:781 |
Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure |
ORPHA:774 |
Vacterl/Vater Association |
|
Abnormality of the pancreas, Abnormality of the gallbladder |
ORPHA:887 |
Aromatase Deficiency |
|
Hyperlipidemia, Hepatic steatosis |
ORPHA:91 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia |
ORPHA:90153 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:79474 |
Metachromatic Leukodystrophy, Adult Form |
|
Cholecystitis, Neoplasm of the gallbladder |
ORPHA:309271 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Cholecystitis |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Cholecystitis |
ORPHA:309263 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly |
OMIM:301066 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia |
OMIM:264090 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Liver abscess, Cholangitis, Cholecystitis |
ORPHA:183675 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:3455 |
Listeriosis |
|
Liver abscess, Jaundice, Peritonitis, Hepatic granulomatosis, Cholecystitis, Splenic abscess |
ORPHA:533 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Abnormal mesente... |
ORPHA:449395 |
Smith-Lemli-Opitz Syndrome |
|
Abnormality of the gallbladder, Elevated circulating 7-dehydrocholesterol concentration |
ORPHA:818 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia |
OMIM:241080 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Splenomegal... |
ORPHA:99827 |
Kawasaki Disease |
|
Jaundice, Hepatitis, Cholecystitis |
ORPHA:2331 |
Wolf-Hirschhorn Syndrome |
|
Abnormality of the gallbladder, Abdominal situs inversus |
ORPHA:280 |
Alström Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Portal hypertension, Splenomeg... |
ORPHA:64 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia, Elevated hepatic transaminase |
ORPHA:293987 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia |
ORPHA:3464 |