Glycogen Storage Disease Vi |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... |
OMIM:232700 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... |
OMIM:612526 |
Coronary Artery Disease, Autosomal Dominant, 1 |
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Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
Morbid Obesity And Spermatogenic Failure |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... |
OMIM:615703 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... |
OMIM:620211 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Congenital Disorder Of Glycosylation, Type Iio |
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Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Hypertriglyceridemia 2 |
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Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Congenital Disorder Of Glycosylation, Type Iip |
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Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Glycogen Storage Disease Ixa1 |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
Sitosterolemia 2 |
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Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Hypercholesterolemia |
OMIM:619855 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
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Hypercholesterolemia, Attention deficit hyperactivity disorder |
OMIM:301033 |
Analbuminemia |
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Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
Lipodystrophy, Familial Partial, Type 2 |
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Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:151660 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Congenital Generalized Lipodystrophy |
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Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Adipose tissue loss, Insuli... |
ORPHA:528 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia |
OMIM:610539 |
Cholesteryl Ester Storage Disease |
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Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
Galactokinase Deficiency |
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Hepatomegaly, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Hepatosplenomegaly, Incr... |
ORPHA:79237 |
Lipodystrophy, Familial Partial, Type 1 |
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Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Mandibuloacral Dysplasia |
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Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... |
ORPHA:324575 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
Chylomicron Retention Disease |
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Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
Distal Myopathy, Tateyama Type |
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Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Hypercholesterolemia, Familial, 4 |
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Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Citrullinemia Type Ii |
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Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... |
ORPHA:247585 |
Hyperinsulinism Due To Insr Deficiency |
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Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Low Phospholipid-Associated Cholelithiasis |
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Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe... |
ORPHA:69663 |
Cholesteryl Ester Storage Disease |
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Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos... |
OMIM:278000 |
Temple Syndrome |
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Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... |
OMIM:616222 |
Hyperlipidemia, Familial Combined, 3 |
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Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Obesity |
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Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
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Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young |
ORPHA:254531 |
Potocki-Lupski Syndrome |
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Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Hypocholesterolemia, Failure... |
OMIM:610883 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
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Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Neonatal Hemochromatosis |
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Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Increase... |
ORPHA:446 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... |
OMIM:248370 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyphagia, Hypogly... |
ORPHA:276580 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Smith-Magenis Syndrome |
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Hyperactivity, Hypertriglyceridemia, Self hugging, Increased body weight, Head-banging, Onychotil... |
OMIM:182290 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu... |
ORPHA:276575 |
Congenital Analbuminemia |
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Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula... |
ORPHA:264580 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased ... |
ORPHA:276556 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... |
ORPHA:363400 |
Peroxisome Biogenesis Disorder 3B |
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Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H... |
OMIM:266510 |
Laron Syndrome |
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Hypercholesterolemia, Hypoglycemia, Truncal obesity |
ORPHA:633 |
Obesity Due To Sim1 Deficiency |
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Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... |
ORPHA:369873 |
Hypobetalipoproteinemia, Familial, 1 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
Apolipoprotein C-Ii Deficiency |
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Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Lipe-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Cog4-Cdg |
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Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa... |
ORPHA:263501 |
Diarrhea 13 |
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Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... |
OMIM:620357 |
Glycogen Storage Disease Iii |
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Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por... |
ORPHA:369 |
Dysbetalipoproteinemia |
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Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Decreased HDL cholesterol concentration, ... |
ORPHA:412 |
Morgagni-Stewart-Morel Syndrome |
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Hypercholesterolemia, Diabetes mellitus, Hyperuricemia, Obesity |
ORPHA:77296 |
Squalene Synthase Deficiency |
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Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... |
OMIM:618156 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Pancreatic Lipase Deficiency |
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Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
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Hepatomegaly, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
Hemochromatosis, Type 4 |
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Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Hemochromatosis, Neonatal |
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Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
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Hyperalaninemia, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase conc... |
OMIM:619048 |
Lipodystrophy, Familial Partial, Type 5 |
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Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Incr... |
OMIM:615238 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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Small for gestational age, Maturity-onset diabetes of the young, Obesity, Truncal obesity, Hyperc... |
ORPHA:96184 |
Combined Oxidative Phosphorylation Deficiency 52 |
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Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619386 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ... |
ORPHA:71 |
Ataxia-Oculomotor Apraxia 4 |
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Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Akt2-Related Familial Partial Lipodystrophy |
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Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes... |
ORPHA:79085 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
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Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
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Elevated hepatic transaminase, Increased serum pyruvate, Hypoglycemia, Small for gestational age,... |
OMIM:615160 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration... |
OMIM:261680 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, Inc... |
OMIM:617872 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... |
ORPHA:96180 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content |
OMIM:261750 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal subcutaneous fat tissue distribution, Flexi... |
OMIM:212065 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
ORPHA:42 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypocholesterolemia |
OMIM:618810 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... |
ORPHA:567548 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Hypercholesterolemia, Hyperglycemia, Addictive alcohol use |
ORPHA:90065 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Obesity, Self-injurious behavior, Attention d... |
ORPHA:819 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha... |
ORPHA:2394 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu... |
OMIM:300972 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia, Abnormal ad... |
ORPHA:79324 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Umbilical hernia, Attention deficit hyperactivity disorder, Prolonged neonatal... |
ORPHA:90674 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Failure to ... |
ORPHA:14 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... |
ORPHA:6 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:617049 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Inc... |
ORPHA:90041 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Hyperalaninemia |
OMIM:266150 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,... |
ORPHA:470 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... |
OMIM:251880 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure |
ORPHA:156 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hepatocellul... |
ORPHA:79259 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol concentration, Xanthel... |
OMIM:210250 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, Abnormal repetitive mannerisms |
ORPHA:2479 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
Neuhauser Syndrome |
|
Hypercholesterolemia, Dysphagia |
OMIM:249310 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large... |
OMIM:616026 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Cyanosis, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy |
ORPHA:363618 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... |
OMIM:617093 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:212138 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Chylous ascites, Hypoalbuminemia, Cirrhosis, Hypoc... |
ORPHA:90363 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia |
OMIM:616483 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ... |
ORPHA:2126 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Elevated maternal serum al... |
OMIM:309000 |
Dubowitz Syndrome |
|
Hyperactivity, Inguinal hernia, Hypocholesterolemia |
OMIM:223370 |
Tangier Disease |
|
Left ventricular hypertrophy, Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, Elevated circulatin... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, Elevated circulatin... |
OMIM:618839 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, Conjugated hype... |
OMIM:617156 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Splenomegaly, Cholestatic liver disease, Hypoal... |
OMIM:270400 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Hypocholesterolemia |
OMIM:244450 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Hypercholesterolemia, Pancreatitis, Obesity |
OMIM:619471 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuric... |
OMIM:232200 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphology, Atypical scarrin... |
ORPHA:534 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Limb joint contracture, Small for... |
ORPHA:404454 |
Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Porta... |
OMIM:207800 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,... |
OMIM:118450 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemi... |
OMIM:276700 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp... |
OMIM:232220 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoalbuminemia, Intrahepatic bile duct dilatati... |
OMIM:619534 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Diabetes mellitus, Oral-pharyngeal dysphagia, Aggressive behavior,... |
ORPHA:273 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Hypophosphat... |
OMIM:229600 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hep... |
OMIM:232240 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis |
ORPHA:391665 |
Histidinemia |
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Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |