Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Sudden cardiac death, Impaired glucose tolerance, Myocardial... |
OMIM:610947 |
Coronary Artery Disease, Autosomal Dominant, 1 |
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Myocardial infarction, Hypertension, Hypercholesterolemia |
OMIM:608320 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Glycogen Storage Disease Vi |
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Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Morbid Obesity And Spermatogenic Failure |
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Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Hypertriglyceridemia 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Brugada Syndrome |
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Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Incessant Infant Ventricular Tachycardia |
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Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Progressive Familial Heart Block, Type Ia |
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Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... |
OMIM:113900 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Hypercholesterolemia |
OMIM:619855 |
Familial Progressive Cardiac Conduction Defect |
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Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure |
ORPHA:871 |
Cardiomyopathy, Dilated, 1E |
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Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
Cardiomyopathy, Dilated, 1U |
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Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... |
OMIM:613694 |
Growth Hormone Insensitivity Syndrome |
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Type II diabetes mellitus, Hypoglycemia, Hypercholesterolemia, Insulin resistance, Diabetes mellitus |
ORPHA:181393 |
Hyperlipidemia, Familial Combined, 3 |
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Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
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Bundle branch block, Arrhythmia |
ORPHA:1479 |
Progressive Familial Heart Block, Type Ib |
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Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
Brugada Syndrome 1 |
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Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
Ventricular Tachycardia, Familial |
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Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block |
OMIM:192605 |
Cardiomyopathy, Dilated, 1Bb |
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Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:612877 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
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Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
Brugada Syndrome 2 |
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Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... |
OMIM:611777 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
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Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Glycogen Storage Disease Xv |
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Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Hypercholesterolemia, Familial, 4 |
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Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
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Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1V |
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Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... |
OMIM:613697 |
Cardiomyopathy, Dilated, 2G |
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Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
Glycogen Storage Disease Ixa1 |
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Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Cardiomyopathy, Familial Hypertrophic, 6 |
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Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia, Insulin resistance, Diabetes mellitus |
OMIM:612526 |
Congenital Heart Defects, Multiple Types, 3 |
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Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... |
OMIM:614954 |
Bundle Branch Block, Familial Isolated Complete Right |
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Right bundle branch block |
OMIM:113950 |
Atrial Standstill |
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Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Hepatic Lipase Deficiency |
|
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Cardiomyopathy, Familial Hypertrophic, 11 |
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Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... |
OMIM:612098 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
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Elevated circulating creatine kinase concentration, Right bundle branch block |
OMIM:613158 |
Congenital Disorder Of Glycosylation, Type Iip |
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Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Cardiomyopathy, Familial Hypertrophic, 16 |
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Left bundle branch block, Sudden cardiac death, Palpitations, Syncope, Ventricular tachycardia, A... |
OMIM:613838 |
Familial Dilated Cardiomyopathy |
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Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... |
ORPHA:217607 |
Brugada Syndrome 5 |
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Bundle branch block, ST segment elevation, Ventricular fibrillation |
OMIM:612838 |
Hyperproinsulinemia |
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Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... |
OMIM:618858 |
Atrial Septal Defect, Sinus Venosus Type |
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Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... |
ORPHA:99105 |
Cardiomyopathy, Familial Hypertrophic, 14 |
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Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... |
OMIM:613251 |
Cardiomyopathy, Familial Hypertrophic, 13 |
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Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
Diabetes Mellitus, Transient Neonatal, 3 |
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Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Cardiomyopathy, Familial Hypertrophic, 10 |
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Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... |
OMIM:608758 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
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Hypercholesterolemia |
OMIM:301033 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
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Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
Distal Myopathy, Tateyama Type |
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Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia |
ORPHA:488650 |
Cardiomyopathy, Familial Hypertrophic, 26 |
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Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... |
OMIM:617047 |
Brugada Syndrome 8 |
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ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Hyperlipoproteinemia, Type Iv |
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Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration |
OMIM:144600 |
Hypertriglyceridemia 1 |
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Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration |
OMIM:145750 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... |
OMIM:616000 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
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Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block |
OMIM:615616 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Maternal diabetes, ... |
ORPHA:45452 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... |
OMIM:606176 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, ST segment depression, Cerebral ischemia, Syncope, Prolonged QTc interval, M... |
ORPHA:90065 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Temple Syndrome |
|
Maturity-onset diabetes of the young, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Aapoaiv Amyloidosis |
|
Sinus bradycardia, Left bundle branch block, Hyperlipidemia, Left ventricular outflow tract obstr... |
ORPHA:439232 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... |
OMIM:619868 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
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Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Right bundle branch b... |
ORPHA:206559 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Hypercholesterolemia |
ORPHA:254531 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Cardiomyopathy, Familial Hypertrophic, 2 |
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Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Right bundle branch block |
OMIM:115195 |
Peripartum Cardiomyopathy |
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Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... |
ORPHA:563 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Elevated transferrin saturatio... |
OMIM:606069 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Renovascular hypertension, Aortic regurgitation, Dilated cardiomyopath... |
ORPHA:401923 |
Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
Morgagni-Stewart-Morel Syndrome |
|
Hypertension, Hypercholesterolemia, Hyperuricemia, Diabetes mellitus |
ORPHA:77296 |
Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
Congenital Generalized Lipodystrophy |
|
Hyperinsulinemia, Increased C-peptide level, Hypertriglyceridemia, Diabetes mellitus, Insulin res... |
ORPHA:528 |
Lipodystrophy, Familial Partial, Type 3 |
|
Type II diabetes mellitus, Hyperinsulinemia, Decreased HDL cholesterol concentration, Maternal di... |
OMIM:604367 |
Type 1 Diabetes Mellitus |
|
Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy,... |
OMIM:255160 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... |
OMIM:616828 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Pulmonary Hypertension, Primary, 4 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... |
OMIM:615344 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
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Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... |
ORPHA:263297 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hypoglycemia, Hyper... |
ORPHA:79237 |
Ebstein Anomaly |
|
Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right bundle branch block, At... |
OMIM:224700 |
Laron Syndrome |
|
Hypoglycemia, Hypercholesterolemia |
ORPHA:633 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus,... |
ORPHA:2457 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Palpitations, Arrhythmia... |
ORPHA:75566 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Premature ventricular contraction, Palpitations, Tachycardia, Elevated... |
OMIM:602668 |
Dysbetalipoproteinemia |
|
Angina pectoris, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration... |
ORPHA:412 |
Hyperlipoproteinemia, Type V |
|
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Increased circ... |
OMIM:144650 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Hypertension, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Elevated circulating creatine kinase concentration, Right bundle branch block |
OMIM:616479 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... |
ORPHA:99103 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Left bundle branch block, Congestive heart failure, Sudden cardiac death, Syncope, Ventricular fi... |
OMIM:115197 |
Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Cardiomyopathy, Hyperglycemia |
OMIM:520000 |
Lipodystrophy, Familial Partial, Type 2 |
|
Type II diabetes mellitus, Hyperinsulinemia, Decreased HDL cholesterol concentration, Hypertrigly... |
OMIM:151660 |
Atrial Septal Defect, Ostium Primum Type |
|
Congestive heart failure, Abnormal P wave, Fixed splitting of the second heart sound, Tricuspid r... |
ORPHA:99106 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... |
ORPHA:75565 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... |
OMIM:262190 |
Naxos Disease |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... |
OMIM:601214 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Hypercholesterolemia |
ORPHA:96184 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Myocardial infarction, Hypertension, Hypercholesterolemia |
OMIM:615812 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Scorpion Envenomation |
|
Bundle branch block, Hypokalemia, Premature ventricular contraction, ST segment depression, Incre... |
ORPHA:466677 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Pulmonary embolism, Hypertriglyceridemia, Hypoalbuminem... |
ORPHA:567548 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... |
ORPHA:1329 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... |
ORPHA:552 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypertension, Hypercholesterolemia, Diabetes mellitus |
ORPHA:69663 |
Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:208920 |
Atrial Septal Defect, Coronary Sinus Type |
|
Supraventricular arrhythmia, Bundle branch block, Left-to-right shunt, Systolic heart murmur, Pre... |
ORPHA:99104 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Systolic heart murmur, Right ventricular failure, Right-to-left shunt, A... |
ORPHA:439 |
Congenital Analbuminemia |
|
Hyperlipidemia, Low pulse pressure, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, H... |
ORPHA:86816 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Elevated circulating creatine kinase concentration, Right bundle branch block |
ORPHA:254361 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... |
ORPHA:247598 |
Gaisböck Syndrome |
|
Angina pectoris, Hypovolemia, Hyperproteinemia, Increased circulating renin level, Myocardial inf... |
ORPHA:90041 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, H... |
ORPHA:79240 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Hyperlipidemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus... |
OMIM:248370 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia |
OMIM:618857 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Lysosomal Acid Lipase Deficiency |
|
Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:278000 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypoglycemia, Hypertriglyceridemia, Hyperchol... |
ORPHA:264580 |
Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Arrhythmia, Cerebral ischemia, Right bundle branch block, Atrial fibrillati... |
ORPHA:1880 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Tachycardia, Junctional ectopic tac... |
ORPHA:137675 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia, F... |
ORPHA:370 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Portal hypertension, Hypercholesterole... |
OMIM:619662 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... |
OMIM:238600 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Juvenile Dermatomyositis |
|
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Elevat... |
ORPHA:93672 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... |
ORPHA:64753 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Hypercholesterolemia |
OMIM:618348 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... |
ORPHA:2298 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hypertension, Hyperglycemia, Increased circulating cortisol level |
OMIM:615954 |
Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance, Pulmonary insufficiency, Right bundle branch block |
OMIM:619322 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Left anterior fascicular block, Abnormal left ventricular function, Elevated circulating creatine... |
ORPHA:437572 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Abnormal left ventricular function, Abnormal T-wave, Elevated circulating C-reacti... |
ORPHA:70591 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Mitral regurgitation, Tricuspid regurgitation, Right bundle branch block |
OMIM:619576 |
Sitosterolemia 1 |
|
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... |
OMIM:210250 |
Fabry Disease |
|
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Hyperlipidemia, Mucosal telangi... |
ORPHA:324 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Hypertriglyceridemia, Hyper... |
ORPHA:363618 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pulmonary venous hypertension, Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypoglycemic s... |
ORPHA:79259 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Reduced left ventricular ejection fraction, Abnormal EKG, Elevated circulating creatine kinase co... |
ORPHA:268 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Lipodystrophy, Familial Partial, Type 7 |
|
Glucose intolerance, Orthostatic hypotension, Impaired glucose tolerance, Hypertriglyceridemia, T... |
OMIM:606721 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Hypercholesterolemia, Brad... |
ORPHA:90674 |
Necrotizing Enterocolitis |
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Hypotension, Shock, Abnormal glucose homeostasis, Hyponatremia, Hyperglycemia, Bradycardia |
ORPHA:391673 |
Eisenmenger Syndrome |
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Angina pectoris, Supraventricular arrhythmia, Elevated circulating C-reactive protein concentrati... |
ORPHA:97214 |
Steinert Myotonic Dystrophy |
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Supraventricular tachycardia, Prolonged QRS complex, Hyperinsulinemia, Prolonged PR interval, Dil... |
ORPHA:273 |
Noonan Syndrome With Multiple Lentigines |
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Bundle branch block, Pulmonic stenosis, Arrhythmia, Myocardial infarction, Hypertrophic cardiomyo... |
ORPHA:500 |
Lysosomal Acid Lipase Deficiency |
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Steatorrhea, Hypovolemia, Hyperkalemia, Hypotension, Hypertriglyceridemia, Hyponatremia, Hypercho... |
ORPHA:275761 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Crimean-Congo Hemorrhagic Fever |
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Bundle branch block, Melena, Abnormal left ventricular function, Hemoperitoneum, Subdural hemorrh... |
ORPHA:99827 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Hyperbilirubinemia, Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fract... |
ORPHA:542323 |
Homozygous Familial Hypercholesterolemia |
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Angina pectoris, Abnormal left ventricular function, Hyperlipidemia, Increased LDL cholesterol co... |
ORPHA:391665 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hyperammonemia, Hypoketotic hyp... |
ORPHA:228308 |
Aortic Arch Interruption |
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Intermittent claudication, Blood pressure substantially higher in arms than legs, Tricuspid regur... |
ORPHA:2299 |
Lysinuric Protein Intolerance |
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Increased circulating ferritin concentration, Increased LDL cholesterol concentration, Steatorrhe... |
ORPHA:470 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
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Right bundle branch block |
OMIM:618590 |
Immunodeficiency 47 |
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Tricuspid regurgitation, Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Cutis Laxa, Autosomal Recessive, Type Iid |
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Hypertrophic cardiomyopathy, Right bundle branch block, Congestive heart failure |
OMIM:617403 |
Congenitally Corrected Transposition Of The Great Arteries |
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Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... |
ORPHA:216694 |
Simpson-Golabi-Behmel Syndrome |
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Hypoglycemia, Bundle branch block, Prolonged QT interval, Cardiomyopathy |
ORPHA:373 |
Leopard Syndrome 1 |
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Bundle branch block, Hypertrophic cardiomyopathy, Third degree atrioventricular block, Pulmonic s... |
OMIM:151100 |
Nestor-Guillermo Progeria Syndrome |
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Mitral regurgitation, Right bundle branch block, Hypertension, Sinus tachycardia, Pulmonary arter... |
OMIM:614008 |
Bardet-Biedl Syndrome 20 |
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Hypercholesterolemia |
OMIM:619471 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
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Pulmonic stenosis, Mitral regurgitation, Tricuspid regurgitation, Right bundle branch block |
OMIM:617506 |
Oculocerebrorenal Syndrome Of Lowe |
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Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolemia, Hyperaldosteronism |
ORPHA:534 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Increased circulating ferritin concentration, Tricuspid regurgitation, Hyperbilirubinemia, Left-t... |
OMIM:619534 |
Alagille Syndrome 1 |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Lowe Oculocerebrorenal Syndrome |
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Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Bicarbonatu... |
OMIM:309000 |
Cutis Laxa, Autosomal Recessive, Type Iic |
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Aortic regurgitation, Tricuspid regurgitation, Right bundle branch block |
OMIM:617402 |