Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia |
OMIM:306000 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Ethanolaminosis |
|
Death in infancy, Cardiomegaly |
OMIM:227150 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia |
OMIM:232700 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:144300 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia |
OMIM:610021 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... |
OMIM:608600 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:610947 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... |
ORPHA:293964 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Morbid Obesity And Spermatogenic Failure |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LD... |
OMIM:615703 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Intrauterine growth retardation, Small for gestational age, Failure to thrive,... |
ORPHA:99886 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Intrauterine growth retardation, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of... |
OMIM:613370 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... |
OMIM:605814 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia, Hypoc... |
OMIM:612526 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
ORPHA:75234 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Hirsutism, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant dia... |
OMIM:604367 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... |
OMIM:616828 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apo... |
OMIM:207750 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Severe failure to thrive, Intrauterine growth retardation, Transient neonatal diab... |
OMIM:601410 |
Ataxia With Vitamin E Deficiency |
|
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:277460 |
Analbuminemia |
|
Hypercholesterolemia, Elevated circulating transferrin concentration, Increased LDL cholesterol c... |
OMIM:616000 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia |
OMIM:262400 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Hypercholesterolemia, Familial, 2 |
|
Hypercholesterolemia, Xanthelasma, Increased LDL cholesterol concentration |
OMIM:144010 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia |
OMIM:617950 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Hirsutism, Insulin... |
OMIM:151660 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus, Flexion contracture |
OMIM:618856 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Increas... |
OMIM:238600 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... |
OMIM:608612 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, In... |
OMIM:248370 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Hypertrichosis, Small for gestational age, Short stature, Ins... |
OMIM:262190 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia, Coronary artery stenosis |
OMIM:615812 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia |
OMIM:616730 |
Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Decreased circulating cortisol ... |
OMIM:618838 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Abnormal heart morphology, Hypertriglyceridemia |
OMIM:182290 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Dilated cardiomyopathy, Bicuspid aortic valve |
ORPHA:401923 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Death in infancy, Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Death in childhood |
OMIM:619064 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Death in infancy, Increased LDL cholestero... |
OMIM:278000 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Hypercholesterolemia, Hepatosplenomegaly, Increased level of gal... |
ORPHA:79237 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Donohue Syndrome |
|
Fasting hypoglycemia, Intrauterine growth retardation, Hypertrichosis, Hyperglycemia, Adipose tis... |
OMIM:246200 |
Short Syndrome |
|
Intrauterine growth retardation, Small for gestational age, Birth length less than 3rd percentile... |
OMIM:269880 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Short stature, Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Postprandial ... |
ORPHA:2089 |
Congenital Generalized Lipodystrophy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Increased ... |
ORPHA:528 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbumin... |
ORPHA:567548 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hyperlipidemia, Hyperchol... |
ORPHA:247585 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:208920 |
Sitosterolemia 1 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration, Hyperapobetalipoproteinemia,... |
OMIM:210250 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... |
ORPHA:247598 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Intrauterine growth retardation, Small for gestational age, Hyperglycemia, Diabetes mellitus, Typ... |
OMIM:606176 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... |
ORPHA:412 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Abnormal heart morphology, Vent... |
ORPHA:370 |
Cog4-Cdg |
|
Hypercholesterolemia, Hepatosplenomegaly |
ORPHA:263501 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus, Small for gestational age |
OMIM:618858 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration |
ORPHA:209902 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Death in childhood |
OMIM:269920 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, In... |
OMIM:619662 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin |
ORPHA:86816 |
Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Failure to thrive, Hyperglycemia, Reduced subcutaneous adipose tissue, Diabetes mel... |
OMIM:609069 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia |
OMIM:619170 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentrat... |
ORPHA:64753 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Left ventricular hypertrophy |
ORPHA:90065 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... |
OMIM:600649 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Glycosuria, Small for gestational age, Type I diabetes mellitus |
OMIM:618857 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Hyperammonem... |
OMIM:212140 |
Greig Cephalopolysyndactyly Syndrome |
|
Hirsutism, Umbilical hernia, Hyperglycemia, Joint contracture of the hand, Inguinal hernia, Campt... |
OMIM:175700 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Elevated circulating creatine kinase concentration, Neonatal death, Cardiomyopa... |
OMIM:618839 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Death in infancy, Elevated circulating creatine kinase concentration... |
OMIM:618835 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Mody |
|
Intrauterine growth retardation, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulin... |
ORPHA:552 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale |
OMIM:601005 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Highly arched eyebrow, Hirsutism, Hypoglycemia, Low anterior hairline, Failure to thrive, Hypergl... |
OMIM:220111 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopathy, Splenomegaly, H... |
ORPHA:264580 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Mitral valve calcification, Ventricular hypertrophy, Hypercholesterolemia, Hypertriglyceridemia, ... |
ORPHA:363618 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hypercholesterole... |
ORPHA:79240 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Left ... |
ORPHA:85451 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly |
OMIM:618052 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Death in infancy, Elevated circulating creatine kinase... |
OMIM:201475 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Abnormality of body weight, Hirsutism, Type II diabetes mellitus, Insulin r... |
ORPHA:2298 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... |
ORPHA:860 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly, Hyperalaninemia, Hyperammonemia |
OMIM:619051 |
Familial Atrial Myxoma |
|
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma |
ORPHA:615 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Increased circulating cortisol level, Abdominal obesity, Increased body weight |
OMIM:615954 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... |
ORPHA:3092 |
Isolated Sedoheptulokinase Deficiency |
|
Severe postnatal growth retardation, Short stature, Arthrogryposis multiplex congenita, Steatorrh... |
ORPHA:440713 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Hemochromatosis, Type 1 |
|
Increased serum iron, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly, Increased circula... |
OMIM:235200 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... |
OMIM:115197 |
Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:618652 |
Mulibrey Nanism |
|
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
Lysinuric Protein Intolerance |
|
Abnormal circulating serine concentration, Hepatomegaly, Decreased HDL cholesterol concentration,... |
ORPHA:470 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Decreased plasma free carnitine, Hyperlipidemia, Elevated circulating creatine kina... |
ORPHA:228308 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Rabson-Mendenhall Syndrome |
|
Fasting hypoglycemia, Hypertrichosis, Hirsutism, Low anterior hairline, Short stature, Intrauteri... |
ORPHA:769 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Atrial septal defect |
OMIM:619471 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy, Elevated levels of phytanic acid |
OMIM:266500 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... |
ORPHA:42 |
Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion |
OMIM:239850 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... |
ORPHA:2041 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Death in infancy, Cardiomegaly |
OMIM:618886 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Obesity, Truncal obesity |
OMIM:615986 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Immunodeficiency 47 |
|
Hepatomegaly, Death in infancy, Splenomegaly, Hypercholesterolemia, Decreased circulating copper ... |
OMIM:300972 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Growth delay, Failure to thrive, Impaired glucose tolerance, Glycosuria, Hy... |
ORPHA:2088 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly |
OMIM:256550 |
Aorta Coarctation |
|
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... |
ORPHA:1457 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Neonatal death |
OMIM:276822 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Increased circulating galectin-3 level, Cardiomegaly, Abno... |
ORPHA:57777 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly |
OMIM:252920 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hyponatremia, Hypercholesterolemia, Xanthelasma, Hepatosplenomegaly, Steatorrhea, H... |
ORPHA:275761 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Pericardial eff... |
ORPHA:26793 |
Gaisböck Syndrome |
|
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Increased circulatin... |
ORPHA:90041 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Intrauterine growth retardation, Failure to thrive, Contractures of the joints of the lower limbs... |
ORPHA:99885 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hyperammonemia |
ORPHA:391428 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve pro... |
ORPHA:324410 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
Leprechaunism |
|
Severe intrauterine growth retardation, Fasting hypoglycemia, Hypertrichosis, Insulin resistance,... |
ORPHA:508 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Decreased plasma free carnitine, Elevated circulating long ... |
OMIM:608836 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Xanthelasma, Hypertriglyceride... |
ORPHA:79259 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal circulating acetylcarnitine concent... |
ORPHA:71212 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Abnormality of iron homeostasis, Cardiomegaly, Elevated transferrin saturation, Car... |
ORPHA:465508 |
Alagille Syndrome 1 |
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Ventricular septal defect, Hypercholesterolemia, Atrial septal defect, Tetralogy of Fallot, Hyper... |
OMIM:118450 |
Isolated Right Ventricular Hypoplasia |
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Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... |
ORPHA:439 |
Craniofaciofrontodigital Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Cardiomegaly, Atrial sept... |
ORPHA:363705 |
Abetalipoproteinemia |
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Hepatomegaly, Decreased HDL cholesterol concentration, Hypocholesterolemia, Cardiomegaly, Abnorma... |
ORPHA:14 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Atypical Werner Syndrome |
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Abnormal hair morphology, Short stature, Insulin-resistant diabetes mellitus, White forelock, Fas... |
ORPHA:79474 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Cardiomegaly |
OMIM:613320 |
Heterotaxy, Visceral, 1, X-Linked |
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Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... |
OMIM:306955 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Dextrocardia, Hypoalbuminemia, Primum atrial septal defect, Ventricular septal defect, Hepatomega... |
OMIM:619534 |
Idiopathic Pulmonary Hemosiderosis |
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Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
Meacham Syndrome |
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Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Death in infancy, Neonatal death,... |
OMIM:608978 |
Gaucher Disease, Perinatal Lethal |
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Hepatomegaly, Neonatal death, Cardiomegaly, Splenomegaly, Hepatosplenomegaly |
OMIM:608013 |
Necrotizing Enterocolitis |
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Hyperglycemia, Abnormal glucose homeostasis, Small for gestational age |
ORPHA:391673 |
Leigh Syndrome With Nephrotic Syndrome |
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Cardiomegaly, Hypoalbuminemia |
ORPHA:255249 |
Sandhoff Disease |
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Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Death in childhood |
OMIM:268800 |
Beck-Fahrner Syndrome |
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Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Lethal Congenital Contracture Syndrome 10 |
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Ventricular septal defect, Cardiomegaly, Overriding aorta |
OMIM:617022 |
Glycogen Storage Disease Ii |
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Elevated circulating creatine kinase concentration, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ca... |
ORPHA:308552 |
Complete Atrioventricular Septal Defect |
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Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... |
ORPHA:1329 |
Homozygous Familial Hypercholesterolemia |
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Hypercholesterolemia, Myocardial steatosis, Increased LDL cholesterol concentration, Hyperlipidemia |
ORPHA:391665 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Death in infancy, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hyperaldoste... |
ORPHA:534 |
Familial Aortic Dissection |
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Cardiomegaly |
ORPHA:229 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy |
OMIM:261740 |
Congenital Disorder Of Glycosylation, Type It |
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Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Elevated circulating creatine ki... |
OMIM:614921 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Right ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase concentration |
ORPHA:268 |
Hypokalemic Periodic Paralysis |
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Postprandial hyperglycemia |
ORPHA:681 |
Mogs-Cdg |
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Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Atrial septal defect |
ORPHA:79330 |
Beta-Ketothiolase Deficiency |
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Hyperglycemia, Weight loss, Hypoglycemia |
ORPHA:134 |
Mucolipidosis Ii Alpha/Beta |
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Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly, Increased serum beta-hexos... |
OMIM:252500 |
Craniofaciofrontodigital Syndrome |
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Abnormal heart morphology, Cardiomegaly |
OMIM:114620 |
Fucosidosis |
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Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Hypertrichotic Osteochondrodysplasia, Cantu Type |
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Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Sickle Cell Anemia |
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Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:603903 |
Fucosidosis |
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Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:230000 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Intrauterine growth retardation, Failure to thrive, Congenital diaphragmatic hernia, Hyperglycemi... |
OMIM:600001 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... |
OMIM:245600 |
Naxos Disease |
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Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... |
OMIM:601214 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Hepatomegaly, Ventricular septal defect, Mitral valve prolapse, Cardiomegaly, Pulmonic stenosis, ... |
OMIM:602782 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
Lowe Oculocerebrorenal Syndrome |
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Hypercholesterolemia, Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fe... |
OMIM:309000 |
Steinert Myotonic Dystrophy |
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Hypercholesterolemia, Dilated cardiomyopathy |
ORPHA:273 |
Mitchell-Riley Syndrome |
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Hyperglycemia, Intrauterine growth retardation |
OMIM:615710 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegaly, Splenomegaly, Death in adole... |
OMIM:256040 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Greenberg Dysplasia |
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Hepatomegaly, Neonatal death, Cardiomegaly, Stillbirth, Hepatosplenomegaly |
OMIM:215140 |
Lethal Acantholytic Erosive Disorder |
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Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Cardiomegaly |
ORPHA:2463 |
Truncus Arteriosus |
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Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... |
ORPHA:3384 |
Pyruvate Carboxylase Deficiency |
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Failure to thrive, Hypoglycemia, Growth delay, Hyperglycemia |
ORPHA:3008 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Cardiomegaly |
OMIM:618278 |
Absence Of The Pulmonary Artery |
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Truncus arteriosus, Abnormal heart morphology, Cardiomegaly, Atrial septal defect, Tetralogy of F... |
ORPHA:980 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Right atrial... |
ORPHA:1677 |
Mucopolysaccharidosis Type 3 |
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Hepatomegaly, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Cardiomegaly, S... |
ORPHA:581 |
Congenital Tracheomalacia |
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Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Atrial sept... |
ORPHA:95430 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... |
OMIM:300967 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ca... |
ORPHA:365 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Highly arched eyebrow, Short stature, Hyperglycemia, Long eyelashes, Curly hair, Thick hair, Thic... |
ORPHA:444077 |
Dend Syndrome |
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Hyperglycemia |
ORPHA:79134 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Congenital Total Pulmonary Venous Return Anomaly |
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Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... |
ORPHA:99125 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
Tropical Endomyocardial Fibrosis |
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Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Coronary a... |
ORPHA:75565 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Short stature, Hyperlipidemia, Hyperglycemia, Obesity, Delayed puberty |
ORPHA:293987 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Pancreatic hyperplasia, Enlarged kidney |
OMIM:130650 |
Williams Syndrome |
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Hypertrophic cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Abnormal endocardi... |
ORPHA:904 |
Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly |
ORPHA:51 |
Beckwith-Wiedemann Syndrome |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly, Enlarged kidney, Elevated ... |
ORPHA:116 |
Thyrotoxic Periodic Paralysis |
|
Obesity, Weight loss, Postprandial hyperglycemia |
ORPHA:79102 |
Scorpion Envenomation |
|
Hyperglycemia, Glycosuria |
ORPHA:466677 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Aortic valve calcification... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
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Myocardial calcification, Pericardial effusion, Ventricular hypertrophy, Cardiomegaly, Hypophosph... |
ORPHA:51608 |