Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... |
OMIM:232700 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... |
OMIM:608600 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... |
OMIM:612526 |
Lipase Deficiency, Combined |
|
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia |
OMIM:246650 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Obesity, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... |
ORPHA:71529 |
Plin1-Related Familial Partial Lipodystrophy |
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Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Loss ... |
ORPHA:280356 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... |
OMIM:613877 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Obesity, Increased LDL cholesterol concentration, Type II diabetes mellitus, ... |
OMIM:615703 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Failure to thrive in infancy, Hepatomegaly, Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... |
OMIM:614480 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... |
OMIM:610947 |
Akt2-Related Familial Partial Lipodystrophy |
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Insulin resistance, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, Hepatic st... |
ORPHA:79085 |
Lipe-Related Familial Partial Lipodystrophy |
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Insulin resistance, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus... |
ORPHA:435660 |
Obesity |
|
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio |
OMIM:601665 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... |
OMIM:151660 |
Lipodystrophy, Familial Partial, Type 5 |
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Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level, ... |
OMIM:615238 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... |
ORPHA:363400 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Cidec-Related Familial Partial Lipodystrophy |
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Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of gluteal subcutaneous adipose tiss... |
ORPHA:435651 |
Congenital Generalized Lipodystrophy |
|
Insulin resistance, Failure to thrive, Hypertrichosis, Hyperinsulinemia, Hepatic steatosis, Low a... |
ORPHA:528 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, L... |
OMIM:615381 |
Hypoalphalipoproteinemia, Primary, 1 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:604091 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Alopecia, Increased subcutaneous truncal adipose tissue, Increased circulatin... |
ORPHA:2457 |
Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... |
OMIM:306000 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... |
OMIM:616516 |
Pparg-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... |
ORPHA:79083 |
Fish-Eye Disease |
|
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
ORPHA:436182 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Insulin resistance, Hepatic steatosis, Splenomegaly, Generalized hirsutism, Lipodystr... |
ORPHA:2348 |
Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... |
OMIM:613027 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... |
OMIM:615980 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... |
OMIM:605814 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... |
ORPHA:75234 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera... |
OMIM:603471 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles... |
OMIM:607616 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Acute hepatic failure, Increased LDL cholesterol concentration, Hepato... |
OMIM:278000 |
Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... |
ORPHA:79086 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Obesity, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Temple Syndrome |
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Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal obesity, Hypertrigly... |
OMIM:616222 |
Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Elevated circulating ... |
ORPHA:2088 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:369 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Insulin resistance, Increased adipose tissue around the neck, Premature graying of hair, Increase... |
ORPHA:280365 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J... |
OMIM:603552 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Neonatal cholestati... |
ORPHA:1414 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Hypertriglyceridemia |
OMIM:608898 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepa... |
OMIM:300635 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration... |
ORPHA:209902 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H... |
OMIM:613327 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... |
ORPHA:79240 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:264580 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Panniculitis, Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:618398 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hy... |
OMIM:608594 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Lipodys... |
OMIM:617591 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa... |
ORPHA:247598 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Decreased body mass index, Elevated circulating hepatic transa... |
ORPHA:247585 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia... |
ORPHA:98855 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Type I... |
OMIM:618620 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... |
OMIM:232400 |
Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Hypoglycemia, Increa... |
OMIM:231100 |
Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... |
OMIM:214900 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hyperinsulinemia, Elev... |
OMIM:269700 |
Tangier Disease |
|
Nail dystrophy, Hypertriglyceridemia, Splenomegaly, Elevated circulating apolipoprotein A-II conc... |
OMIM:205400 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia... |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia... |
ORPHA:98853 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... |
OMIM:615160 |
Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia... |
ORPHA:261 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:613101 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Hypertriglyceridemia |
OMIM:177000 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep... |
OMIM:619013 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglycer... |
OMIM:615812 |
Dysbetalipoproteinemia |
|
Acute pancreatitis, Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol c... |
ORPHA:412 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Failure to thrive, Increased circulating chylomicron concentration, Hepatospl... |
ORPHA:444490 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... |
OMIM:267700 |
Immunodeficiency 114, Folate-Responsive |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:620603 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... |
OMIM:615558 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f... |
ORPHA:158057 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... |
ORPHA:2089 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:620282 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Increased circulating chylomicron concentration, Hypertriglyceridemia, Splenom... |
OMIM:615947 |
Seckel Syndrome 10 |
|
Insulin resistance, Acute pancreatitis, Glycosuria, Elevated circulating aspartate aminotransfera... |
OMIM:617253 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Decrease... |
OMIM:608612 |
Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... |
OMIM:207750 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
Smith-Magenis Syndrome |
|
Increased body weight, Hypercholesterolemia, Hypertriglyceridemia, Synophrys |
OMIM:182290 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Failure to thrive, Hypoglycemia, Polysplenia, Failur... |
OMIM:619418 |
Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... |
ORPHA:158061 |
Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Decreased adipose tissue around ... |
OMIM:606721 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Cyanosis, Hepatic steatosis, Low p... |
OMIM:261680 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Alopecia, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexio... |
OMIM:248370 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia |
OMIM:615863 |
H Syndrome |
|
Alopecia, Hypertrichosis, Abnormal eyebrow morphology, Hepatosplenomegaly, Hernia, Lipodystrophy,... |
ORPHA:168569 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Incr... |
OMIM:603553 |
Obesity Due To Congenital Leptin Deficiency |
|
Obesity, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia |
ORPHA:66628 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Alopecia universalis, Premature graying of hair, Absent eyelashes, Abnormal intrahepatic bile duc... |
ORPHA:363618 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Obesity, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia |
ORPHA:179494 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperuricemia, Hyperlipidemia, Hypoglycemia |
ORPHA:364 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:140905 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... |
ORPHA:86816 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... |
ORPHA:540 |
Reni Syndrome |
|
Hypoalbuminemia, Hypoglycemia, Hypertriglyceridemia |
OMIM:617575 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... |
ORPHA:567548 |
Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Obesity, Hypercholesterolemia, Hypertriglyceridemia, Synophrys |
ORPHA:819 |
Werner Syndrome |
|
Elevated circulating aspartate aminotransferase concentration, Alopecia of scalp, Elevated circul... |
OMIM:277700 |
Alstrom Syndrome |
|
Alopecia, Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mel... |
OMIM:203800 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue |
ORPHA:199276 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnorm... |
ORPHA:98907 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:275761 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... |
OMIM:620454 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Premature graying of ... |
OMIM:256040 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Lcat Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... |
ORPHA:650 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... |
OMIM:610717 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase... |
OMIM:617049 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Failure to thrive, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hepatic steatosis, Hyperuricemia, I... |
ORPHA:79259 |
Lysinuric Protein Intolerance |
|
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Cirrhosis, Hepatome... |
ORPHA:470 |
Atypical Werner Syndrome |
|
Insulin-resistant diabetes mellitus, Premature graying of hair, Abnormal hair morphology, Sparse ... |
ORPHA:79474 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Transient... |
ORPHA:156 |
Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Increased circulating cortisol level, Hyperaldosteronism, Dorsocervical fat pad, Glucos... |
ORPHA:189427 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Sparse eyebrow, Elevated circulating hepatic transaminase concentration, Generalized lipodystroph... |
OMIM:619127 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Cellulitis, Alopecia, Widened atrophic scar, Umbilical hernia, Inguinal hernia, Ventral hernia, H... |
ORPHA:536532 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... |
OMIM:255120 |
Prader-Willi Syndrome |
|
Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive in infancy, Obesity... |
OMIM:176270 |
Gaisböck Syndrome |
|
Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinem... |
ORPHA:90041 |
Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
Microtriplication 11Q24.1 |
|
Long eyelashes, Thick eyebrow, Hyperlipidemia, Obesity, Synophrys |
ORPHA:289522 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplastic spleen, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Hypopigmentation... |
ORPHA:79477 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia, White hair, Premature graying of hair |
ORPHA:79476 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hepatic failure, Abnormal circulating lipid concentration, Decreased HDL choleste... |
ORPHA:77293 |
Neutral Lipid Storage Myopathy |
|
Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con... |
ORPHA:98908 |
Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Hyperlipidemia... |
ORPHA:90154 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... |
OMIM:616026 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... |
OMIM:619573 |
Glycerol Kinase Deficiency |
|
Hypoglycemia, Chronic pancreatitis, Hypertriglyceridemia, Hyperglycerolemia, Small for gestationa... |
OMIM:307030 |
Glycogen Storage Disease Ia |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... |
OMIM:232200 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Nail dystrophy, Hypertriglyceridemia |
OMIM:610644 |
Chédiak-Higashi Syndrome |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased circ... |
ORPHA:167 |
Methanol Poisoning |
|
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus |
ORPHA:31825 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:603278 |
Alagille Syndrome 1 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol... |
OMIM:118450 |
19P13.12 Microdeletion Syndrome |
|
Obesity, Hyperlipidemia, Hepatic steatosis, Generalized hirsutism, Arthrogryposis multiplex conge... |
ORPHA:254346 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... |
OMIM:617156 |
Xp21 Deletion Syndrome |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:261476 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr... |
ORPHA:157 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... |
ORPHA:158048 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr... |
ORPHA:228308 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Hypotriglyceridemia, Elevated circulating hepatic tran... |
ORPHA:404454 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia |
OMIM:618183 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Obesity, Hypercalcemia, Hypertriglyceridemia |
ORPHA:369837 |
Glycogen Storage Disease Ib |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... |
OMIM:232220 |
Wiedemann-Rautenstrauch Syndrome |
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Sparse eyebrow, Alopecia, Failure to thrive, Alopecia of scalp, Absence of subcutaneous fat, Redu... |
OMIM:264090 |
Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Nail dystrophy, Hypertriglyceridemia |
ORPHA:31150 |
Bardet-Biedl Syndrome |
|
Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, De... |
ORPHA:110 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Alopecia, Breast aplasia, Abnormal eyebrow morphology, Hyperlipidemia, Absent... |
ORPHA:90153 |
Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age |
OMIM:256300 |
Wiedemann-Rautenstrauch Syndrome |
|
Increased subcutaneous truncal adipose tissue, Failure to thrive, Camptodactyly of finger, Slende... |
ORPHA:3455 |
Aromatase Deficiency |
|
Insulin resistance, Obesity, Type II diabetes mellitus, Eunuchoid habitus, Hyperlipidemia, Hepati... |
ORPHA:91 |
Glycogen Storage Disease Ic |
|
Hypoglycemia, Xanthelasma, Hyperlipidemia, Chronic pancreatitis, Hyperuricemia, Hepatoblastoma, H... |
OMIM:232240 |
Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Hyperlipidemia, Small for gestational age, Failure to thrive |
ORPHA:1830 |
Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus |
ORPHA:439232 |
Alström Syndrome |
|
Frontal balding, Hyperinsulinemia, Hepatosplenomegaly, Type II diabetes mellitus, Hepatic steatos... |
ORPHA:64 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Splenomegaly, Elevated circulating creatine kinase concentration, Pancreatitis, H... |
ORPHA:565612 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen |
OMIM:235400 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hyperglycemia, Obesity, Hyperlipidemia, ... |
ORPHA:293987 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Fine hair, Hyperlipidemia, Sparse hair, Diabetes mellitus |
OMIM:241080 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hyperlipidemia, Aplasia/Hypoplas... |
ORPHA:3464 |
Fabry Disease |
|
Hyperlipidemia, Abnormal circulating lipid concentration |
ORPHA:324 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis |
ORPHA:391665 |