Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Hypertension, Myocardial infarction |
OMIM:608320 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, In... |
OMIM:610947 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Incessant Infant Ventricular Tachycardia |
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Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Progressive Familial Heart Block, Type Ia |
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Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
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, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Cardiomyopathy, Dilated, 1U |
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Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Cardiomyopathy, Dilated, 1E |
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Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Hyperlipidemia, Familial Combined, 3 |
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Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... |
OMIM:144250 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Cardiomyopathy, Dilated, 1Bb |
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Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
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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Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Brugada Syndrome 1 |
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Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Ventricular Tachycardia, Familial |
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Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Hypercholesterolemia, Familial, 4 |
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Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Cardiomyopathy, Dilated, 1V |
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Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
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Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Brugada Syndrome 2 |
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Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
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Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
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Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia |
OMIM:306000 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Congenital Heart Defects, Multiple Types, 3 |
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Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Atrial Standstill |
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Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Cardiomyopathy, Familial Hypertrophic, 14 |
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Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Hepatic Lipase Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris |
OMIM:614025 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
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Right bundle branch block, Elevated circulating creatine kinase concentration |
OMIM:613158 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Maturity-Onset Diabetes Of The Young, Type 13 |
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Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Atrial Septal Defect, Sinus Venosus Type |
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Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
Cardiomyopathy, Familial Hypertrophic, 10 |
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Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
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Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Brugada Syndrome 8 |
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Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Distal Myopathy, Tateyama Type |
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Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations |
ORPHA:488650 |
Hypertriglyceridemia 1 |
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Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
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Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Right bundle branch block, Card... |
ORPHA:263297 |
Diabetes Mellitus, Transient Neonatal, 3 |
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Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... |
OMIM:616000 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Long Qt Syndrome 13 |
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Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ... |
ORPHA:45452 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... |
ORPHA:439232 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr... |
OMIM:181350 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... |
OMIM:115195 |
Long Qt Syndrome 10 |
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Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
Muscle Filaminopathy |
|
Extremely elevated creatine kinase, Left ventricular diastolic dysfunction, Right bundle branch b... |
ORPHA:171445 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Elevate... |
ORPHA:206559 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Hyperglycemia |
ORPHA:329249 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Diabetes mellitus, Hypertension, Hyperuricemia |
ORPHA:77296 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Peripartum Cardiomyopathy |
|
Tachycardia, Diabetes mellitus, Right ventricular failure, Cardiogenic shock, Congestive heart fa... |
ORPHA:563 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Right bundle branch block, Elevated circulating creatine kinase concentration |
OMIM:300695 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Dilated cardiomyopathy, Renovascular hypertension, Type II diabetes mellitu... |
ORPHA:401923 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc... |
OMIM:255160 |
Hemochromatosis, Type 4 |
|
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev... |
OMIM:606069 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
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Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Diabetes mellitus, Congestive heart failure, Insulin resistance, Hyperinsul... |
ORPHA:528 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
Galactokinase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hyper... |
ORPHA:79237 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Impaired glucose tolerance, Elevated circulating creatine kinase concentration, Left bundle branc... |
OMIM:610131 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia |
ORPHA:633 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... |
OMIM:602668 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Maturity-onset diabetes of the young |
OMIM:616222 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Diabetes mellitus... |
ORPHA:412 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
Hyperlipoproteinemia, Type V |
|
Decreased HDL cholesterol concentration, Diabetes mellitus, Increased VLDL cholesterol concentrat... |
OMIM:144650 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... |
OMIM:115197 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia |
OMIM:608600 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... |
OMIM:151660 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:96184 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula... |
ORPHA:567548 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest... |
ORPHA:439 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... |
ORPHA:466677 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Diabetes mellitus, Hypertension |
ORPHA:69663 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem... |
ORPHA:86816 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia |
OMIM:616730 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Diabetes mellitus, Myocardial infarction, Hypovolemia, Ele... |
ORPHA:90041 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Right bundle branch block, Elevated circulating creatine kinase concentration |
OMIM:616479 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, R... |
ORPHA:79240 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Right bundle branch block, Elevated circulating creatine kinase concentration |
ORPHA:254361 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:248370 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomyo... |
ORPHA:264580 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru... |
OMIM:619662 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Portal hypertension, Increased LDL... |
OMIM:278000 |
Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... |
ORPHA:1880 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Hypoglycemia, J... |
ORPHA:137675 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Juvenile Dermatomyositis |
|
Calcinosis, Bundle branch block, Gastrointestinal hemorrhage, Pericarditis, Angina pectoris, Elev... |
ORPHA:93672 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block |
ORPHA:589821 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia, Dilated cardiomyopathy |
OMIM:618348 |
Marbach-Rustad Progeroid Syndrome |
|
Right bundle branch block, Insulin resistance, Pulmonary insufficiency |
OMIM:619322 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v... |
ORPHA:70591 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu... |
ORPHA:2298 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hypertension, Increased circulating cortisol level, Hyperglycemia |
OMIM:615954 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation |
OMIM:619576 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hypoglycemia, Epistaxis, Hyperlipidemia, Hypoglycemic seizures, Xanthelasma... |
ORPHA:79259 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypertriglyceridemia, Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral reg... |
ORPHA:363618 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction, Elevated cir... |
ORPHA:268 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Brad... |
ORPHA:90674 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Impaired glucose tolerance, Insulin resistance, Hy... |
OMIM:606721 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Steinert Myotonic Dystrophy |
|
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... |
ORPHA:273 |
Eisenmenger Syndrome |
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Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Supraventricular ... |
ORPHA:97214 |
Lysosomal Acid Lipase Deficiency |
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Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Hypovolemia, Xanthelasma, Pulmonary arterial hy... |
ORPHA:275761 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Myocardial infarction, Arrhythmia, Pulmonic stenosis, Hypertrophic cardiomyo... |
ORPHA:500 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Tachycardia, Elevated circulating creatine kinase concentration, Epistaxis, ... |
ORPHA:99827 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Tricuspid regurgitation, Decreased circulating copper concentration |
OMIM:300972 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block |
OMIM:618590 |
Homozygous Familial Hypercholesterolemia |
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Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Heart murmur, Incre... |
ORPHA:391665 |
Congenitally Corrected Transposition Of The Great Arteries |
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Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Nestor-Guillermo Progeria Syndrome |
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Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S... |
OMIM:614008 |
Simpson-Golabi-Behmel Syndrome |
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Prolonged QT interval, Bundle branch block, Hypoglycemia, Cardiomyopathy |
ORPHA:373 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
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Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation, Pulmonic stenosis |
OMIM:617506 |
Leopard Syndrome 1 |
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Bundle branch block, Hypertrophic cardiomyopathy, Third degree atrioventricular block, Pulmonic s... |
OMIM:151100 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia |
ORPHA:534 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... |
OMIM:619534 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Right bundle branch block, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:617403 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Tricuspid regurgitation, Right bundle branch block |
OMIM:617402 |