Hypertension, Essential |
|
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure |
OMIM:145500 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... |
OMIM:613255 |
Congenital Pulmonary Veins Atresia Or Stenosis |
|
Hypertension, Abnormal cardiac septum morphology |
ORPHA:3188 |
Trimethylaminuria |
|
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Hypertension, Anemia |
OMIM:602079 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... |
ORPHA:217607 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... |
OMIM:115210 |
Atrial Fibrillation, Familial, 6 |
|
Left ventricular hypertrophy, Atrial fibrillation, Elevated left ventricular end-diastolic diamet... |
OMIM:612201 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, R... |
ORPHA:563 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Ortho... |
OMIM:613838 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... |
OMIM:610476 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Left atrial enla... |
OMIM:611556 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea, Hepatomegaly, Left ventricular hypertrophy, Hyperalaninemia, Increased urine succinate lev... |
OMIM:619048 |
Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular hypertrophy, Right ventricular failure, Syncope, Exertional dy... |
OMIM:265400 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... |
ORPHA:206546 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... |
OMIM:615248 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... |
OMIM:540000 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Hypertension |
OMIM:608320 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Respiratory paralysis, Splenomegaly, Tachycardia, Increased urinary porphobilinogen... |
OMIM:121300 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... |
OMIM:608758 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Airway obstruction, Anomalous pulmonary venous return, Atrial arrhyt... |
ORPHA:99105 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Tendon rupture, R... |
ORPHA:85451 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Thrombocytopenia, Proteinuria, Elevated hepatic transaminase |
OMIM:189800 |
Loeffler Endocarditis |
|
Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of the chordae ... |
ORPHA:75566 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... |
ORPHA:353 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Palpitations, Syncope, Heart murmur, Abnormal cardiovascul... |
ORPHA:422 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... |
ORPHA:2041 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... |
OMIM:613874 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Heart murmur, ... |
ORPHA:860 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Dilated cardiomyop... |
OMIM:604765 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... |
OMIM:614676 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Right ventricular hypertrophy, Right ventricular failure, Abno... |
ORPHA:70589 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular hypertrophy, Right ventricular failure, Cough, ... |
OMIM:178600 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... |
OMIM:613873 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations, Elevated pulmonary artery p... |
ORPHA:275766 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Respiratory insufficiency, Elevated circulating creatine kinase con... |
OMIM:255100 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... |
OMIM:619897 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased cir... |
OMIM:601494 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kin... |
OMIM:617713 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Hyper... |
OMIM:601894 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Left ventricular hypertrophy, Renal dysplasia, Abnorma... |
OMIM:616733 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... |
ORPHA:99095 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... |
OMIM:614022 |
Classic Multiminicore Myopathy |
|
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... |
ORPHA:324604 |
Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Lobular glomerulopathy, Nephropathy, Renal insufficiency, Proteinuria, Glomer... |
OMIM:137950 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Abn... |
ORPHA:57777 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy |
OMIM:613876 |
Fabry Disease |
|
Angina pectoris, Airway obstruction, Anemia, Left ventricular hypertrophy, Arrhythmia, Myocardial... |
OMIM:301500 |
Myofibrillar Myopathy 10 |
|
Flexion contracture of finger, Left ventricular hypertrophy, EMG: myopathic abnormalities, Elevat... |
OMIM:619040 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Leukocytosis, Absent ankle pulse, Myocardial infarction, Abnormalit... |
ORPHA:90064 |
Heparin-Induced Thrombocytopenia |
|
Increased serum serotonin, Pulmonary embolism, Autoimmune thrombocytopenia, Cerebral ischemia, My... |
ORPHA:3325 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Hypertension, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:605711 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Left ventricular hypertrophy, Respiratory insufficiency, Bradycardia |
OMIM:614654 |
Pituitary Adenoma 1, Multiple Types |
|
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... |
OMIM:102200 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Respiratory insufficiency, Arrhythmia, Thrombocytopenia, Ventricular se... |
OMIM:617021 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension, Nephropathy, Proteinuria |
ORPHA:2820 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
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 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... |
ORPHA:1345 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Nephrolithiasis, Hypokalemia, Decreased circulating renin level, Left ventricular hypertrophy, Ve... |
OMIM:615474 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Right ventricular hypertrophy, Left ventricular hypertrophy, Paro... |
ORPHA:444013 |
Nail-Patella-Like Renal Disease |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Hypertension, Pulmonary arterial hypertension, Right ventricular hypertrophy |
OMIM:613623 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, I... |
ORPHA:86812 |
Maternally-Inherited Diabetes And Deafness |
|
Type II diabetes mellitus, Abnormal circulating lipid concentration, Arrhythmia, Proteinuria, Ren... |
ORPHA:225 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Glomerular subendothelial elec... |
ORPHA:54370 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... |
OMIM:613944 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Sudden cardiac death, Myocardial infarction, Hypertriglyceridemia, Diabetes melli... |
OMIM:610947 |
Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Abnormal pattern of respiration, V... |
ORPHA:3287 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Hypertension, Bicuspid aortic valve, Pulmonary arterial hypertension, Atrial septal defect |
OMIM:613355 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... |
OMIM:614954 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... |
OMIM:161900 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Thrombocytopenia |
OMIM:166990 |
Iga Nephropathy, Susceptibility To, 3 |
|
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertensio... |
OMIM:616818 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Shoulder girdle muscle weakness, Exertional dyspnea, EMG: myopathic abnorm... |
ORPHA:263297 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Paragangliomas 6 |
|
Hypertension, Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Hepatomegaly, Oligosaccha... |
ORPHA:308552 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Left ventricular hypertrophy, Intracranial hemorrhage, Hypercalciuria, Adrenal hyper... |
ORPHA:251274 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Hyperprolinemia, Elevated hepatic transaminase, Hyperalaninemia, Pulmonary arterial... |
OMIM:619064 |
Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... |
OMIM:603965 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... |
ORPHA:3093 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Hyperalaninemia, Pulmonary arterial hypertension, Congestive heart failure |
OMIM:616045 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Chronic pulmonary ... |
ORPHA:2414 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Hypertension, Transient ischemic attack, Lacunar stroke |
OMIM:616779 |
Lipoyltransferase 1 Deficiency |
|
Decreased liver function, Elevated hepatic transaminase, Increased total bilirubin, Pulmonary art... |
OMIM:616299 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc... |
ORPHA:276575 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Left ventricular hypertrophy, Mus... |
OMIM:613156 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
Preeclampsia |
|
Chronic kidney disease, Abnormality of the kidney, Elevated systolic blood pressure, Elevated hep... |
ORPHA:275555 |
Atrial Septal Defect, Ostium Primum Type |
|
Airway obstruction, Systolic heart murmur, Right bundle branch block, Abnormal respiratory system... |
ORPHA:99106 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Hyperprolinemia, Neonatal respiratory dis... |
OMIM:619003 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, ST segment depression, Leukocytosis, Left ventricular hypertrophy, Cerebral ... |
ORPHA:90065 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Proteinuria, Hypertension |
OMIM:105200 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Reduced vital capacity, Abnormal Z disc morphology, Internally nucleated sk... |
OMIM:618654 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Abnormally loud pulmonic component of the second heart sound, El... |
OMIM:265450 |
Variegate Porphyria |
|
Increased urinary porphobilinogen, Tachycardia, Elevated urinary delta-aminolevulinic acid, Porph... |
OMIM:176200 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Airway obstruction, Systolic heart... |
ORPHA:99103 |
Overlap Myositis |
|
Distal lower limb muscle weakness, Raynaud phenomenon, Abnormal circulating lipid concentration, ... |
ORPHA:206572 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Camptodactyly, Pulmonary arterial hypertension, Thrombocytopenia, Congestiv... |
OMIM:619751 |
Congenital Fibrinogen Deficiency |
|
Micropenis, Right ventricular hypertrophy, Left ventricular hypertrophy, Tachycardia, Internal he... |
ORPHA:335 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc... |
ORPHA:276580 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Respiratory arrest, Hyperammonemia, Elevated circulating creatine kinase concentrat... |
OMIM:600649 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Left ventricular hypertrophy, EMG: myopathic abnormalities, Elevated circulating creatine kinase ... |
OMIM:615418 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri... |
OMIM:615770 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Hypomagnesemia, Type 2 muscle fiber atrophy, Respiratory insufficiency, P... |
OMIM:613845 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Complete heart block with narrow ... |
ORPHA:1677 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Hypertension, A... |
OMIM:603278 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... |
ORPHA:268 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Diffuse... |
ORPHA:276556 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... |
OMIM:613237 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... |
OMIM:614034 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... |
OMIM:133100 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine ki... |
OMIM:212138 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension |
OMIM:607832 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Apnea, Cerebral hemorrhage, Leukocytosis, Respirato... |
OMIM:618886 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... |
ORPHA:437572 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Hypokalemia, Left ventricular hypertrophy, Abnormality o... |
ORPHA:320 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Snakebite Envenomation |
|
Muscle fiber necrosis, Respiratory paralysis, Intracranial hemorrhage, Tachycardia, Cardiogenic s... |
ORPHA:449285 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Jaundice, Neutrophilia, Leukocytosis, Abno... |
ORPHA:91547 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Nephrolithiasis, Hypokalemia, Intracranial hemorrhage, Ventricular septal defect, Adrenal hyperpl... |
ORPHA:369929 |
Cardiomyopathy, Dilated, 2F |
|
Increased circulating brain natriuretic peptide concentration, Increased left ventricular end-dia... |
OMIM:619747 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc... |
ORPHA:324575 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... |
OMIM:612124 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... |
OMIM:161950 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ven... |
OMIM:609040 |
Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... |
OMIM:616249 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Splenomegaly, Tachycardia, Increased total bilirubin, Autoimmune hemolyti... |
ORPHA:90037 |
Erythrocytosis, Familial, 2 |
|
Elevated circulating erythropoietin concentration, Increased hematocrit, Cerebral hemorrhage, Hyp... |
OMIM:263400 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Glycogen accumulation in muscle fiber lysosomes, Dark urine, Recurrent myoglobinuria, Increased m... |
ORPHA:368 |
Gaucher Disease, Type I |
|
Aortic valve stenosis, Hepatomegaly, Splenomegaly, Mitral regurgitation, Thrombocytopenia, Pancyt... |
OMIM:230800 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
Liddle Syndrome |
|
Hypokalemia, Nephropathy, Arrhythmia, Cerebral ischemia, Renal insufficiency, Hypertension |
ORPHA:526 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Sudden cardiac death, Tachycardia, Elevated circulating creatine kinase concentrati... |
OMIM:614921 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmi... |
ORPHA:45452 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect, Tetralogy of Fallot |
OMIM:300887 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormal mitral valve morphology, Nephrotic syndrome, Nephropathy, Type I diabetes mellitus, Prot... |
ORPHA:1192 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Supraventricular arrhythmia, Right atrial enlargement, Anomalous pulmona... |
ORPHA:99104 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Renal insuffic... |
ORPHA:84090 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Flexion contracture, Micropenis, Tachycardia, Ventricular septal defect, Hy... |
OMIM:613870 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Dyspnea, Pulmonary arterial hypertension, Decreased DLCO, Cough |
OMIM:234810 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Atrial septal defect, Unilateral renal agenesis, Ventricular septal defect, Hypertension, Pulmona... |
OMIM:608406 |
Cardiomyopathy, Dilated, 1Ii |
|
Mitral regurgitation, Elevated circulating creatine kinase concentration, Increased left ventricu... |
OMIM:615184 |
Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Hyperalaninemia, Left ventricular hypertrophy, Decreased liver function, Elevated hepatic transam... |
OMIM:616974 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Hyperammonemia, Hyperalaninemia, Ventricula... |
OMIM:619051 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Abnormality of ... |
ORPHA:231222 |
Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Elevated circulating crea... |
ORPHA:439232 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Renal insufficiency, Hyperuricemia, Hypertension, Cardiomyopathy |
ORPHA:3222 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Hyperte... |
ORPHA:1457 |
Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... |
OMIM:108770 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased urine alpha-ketoglutarate concentration, Ketonuria, 3-hydroxydicarboxylic aciduria, Hep... |
OMIM:619355 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... |
OMIM:108900 |
Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
Lessel-Kubisch Syndrome |
|
Hypertension, Renal hypoplasia, Renal insufficiency, Hypogonadism |
OMIM:618681 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Tachycardia, Myoglobinuria, Hypotension, Rhab... |
OMIM:145600 |
Aortic Arch Interruption |
|
Respiratory distress, Blood pressure substantially higher in arms than legs, Systolic heart murmu... |
ORPHA:2299 |
Tangier Disease |
|
Facial diplegia, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Decreased HDL choleste... |
OMIM:205400 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephrogenic diabetes insipidus, Giant cell hepatitis, Hepatomegaly, Renal tubular acidosis, Amino... |
OMIM:613404 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Elevated ... |
ORPHA:567544 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, M... |
OMIM:614857 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Rhinorrhea, Bradycardia |
OMIM:167400 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Pheochromocytoma, Episodic hyp... |
OMIM:171420 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Pericarditis, Stage 5 chronic ... |
OMIM:619487 |
Atrioventricular Septal Defect 3 |
|
Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Mids... |
OMIM:600309 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Right ventricular hypertrophy, Interstitial pneumonitis, Chronic lung disease, Tachypnea, Spontan... |
ORPHA:217563 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrogenic diabetes insipidus, Giant cell hepatitis, Atrial septal defect, Renal tubular acidosi... |
OMIM:208085 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Cardiomyopathy, Right bundle branch block |
OMIM:192605 |
Pulmonary Arteriovenous Malformation |
|
Bacterial endocarditis, Telangiectasia, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Palpit... |
ORPHA:2038 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... |
ORPHA:66529 |
Attrv30M Amyloidosis |
|
Abnormal renal physiology, Arrhythmia, Nephropathy, Cardiomegaly, Cardiomyopathy, Atrioventricula... |
ORPHA:85447 |
Isolated Succinate-Coq Reductase Deficiency |
|
Abnormal left ventricular function, Left ventricular hypertrophy, Skeletal myopathy, Distal amyot... |
ORPHA:3208 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension |
OMIM:605635 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Splenomegaly, Tachycardia, Chronic lymphatic leukemia, Autoimmune hemolyt... |
ORPHA:90033 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... |
OMIM:614916 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Muscular ... |
ORPHA:300751 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Abnormal heart valve physiology, Coombs-positive hemolytic anemia, Abnormality o... |
ORPHA:464343 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Respiratory insufficiency, Multicystic kidney dysplasia |
ORPHA:2111 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Hypocalcemia, Tricuspid regurgitation, Left ventricular hypertrophy, Mitral r... |
ORPHA:746 |
Potocki-Shaffer Syndrome |
|
Micropenis, Nephroblastoma, Hypothyroidism, Delayed puberty, Hypertension, Anemia |
ORPHA:52022 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly, Tachypnea |
OMIM:613320 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Splenomegaly, Patent ... |
OMIM:616028 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Hyperinsulinemia, Hepatomegaly, Diabetes mellitus |
ORPHA:79084 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Abnormal enzyme/coenzyme activity, Macroscopic ... |
ORPHA:976 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Calf muscle hypertrophy, Abnormal circulating hormone concentration, Insulin-re... |
ORPHA:280356 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Sleep apnea, Hand muscle weakness, Abnormal enzyme/coenzyme activity, Right... |
ORPHA:98915 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... |
ORPHA:95459 |
Paragangliomas 3 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... |
OMIM:605373 |
Sickle Cell Anemia |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Hematuria, Increased red cell sickling tendency, Hemoly... |
OMIM:603903 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Ventricular septal defect, Pneumonia, Increased circulating f... |
ORPHA:26793 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... |
ORPHA:1164 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hypertension, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Ventricular fibrillation, Syncope |
OMIM:603829 |
Hereditary Coproporphyria |
|
Dark urine, Proximal muscle weakness in lower limbs, Respiratory insufficiency, Tachycardia, Elev... |
ORPHA:79273 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia, Ta... |
ORPHA:71275 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Rig... |
OMIM:115197 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Myocardial infarction, Hypertension, Nephrocalcinosis, Congestive heart... |
OMIM:614473 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... |
ORPHA:615 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hyperammonemia, Elevated creatine... |
ORPHA:159 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Hyperthyroidism, Palpitations, Tachycardia, Rhabdomyolysis, Goiter |
OMIM:188580 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Hepatomegaly, Tricuspid regurgitation, Aspiration pneumonia, Left ventricular noncompa... |
OMIM:619167 |
Moyamoya Disease With Early-Onset Achalasia |
|
Hypertension, Thrombocytopenia, Raynaud phenomenon |
ORPHA:401945 |
Paragangliomas 1 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... |
OMIM:168000 |
Familial Cervical Artery Dissection |
|
Recurrent cerebral hemorrhage, Facial palsy, Subarachnoid hemorrhage, Cerebral ischemia, Hyperten... |
ORPHA:36382 |
Porphyria Variegata |
|
Chronic kidney disease, Inappropriate antidiuretic hormone secretion, Abnormal enzyme/coenzyme ac... |
ORPHA:79473 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Systolic heart murmur, Reduced left ventricular ejection frac... |
ORPHA:980 |
Fabry Disease |
|
Angina pectoris, Telangiectasia of the skin, Hematuria, Abnormal myocardium morphology, Proteinur... |
ORPHA:324 |
Eisenmenger Syndrome |
|
Angina pectoris, Supraventricular arrhythmia, Respiratory distress, Hepatomegaly, Elevated circul... |
ORPHA:97214 |
Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... |
ORPHA:423 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Decreased urine output, Hyperbilirubinemia, Tachycardia, Arrhythmia, Hypotension, Tachypnea, Elev... |
ORPHA:542323 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle hypertrophy, Proximal muscle weakness in lower li... |
OMIM:619566 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Elevated circulating C-reactive protein concentration, Reduced vital capacity, Right bundle branc... |
ORPHA:70591 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia, Aspiration pneumonia, Pulmonary insufficiency, Maternal diabetes... |
ORPHA:70588 |
Interstitial Lung Disease 2 |
|
Decreased DLCO, Cough, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension |
OMIM:178500 |
Polycythemia Vera |
|
Budd-Chiari syndrome, Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Leukocytosis, Cere... |
OMIM:263300 |
Meckel Syndrome, Type 7 |
|
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, M... |
OMIM:267010 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alph... |
OMIM:613095 |
Nephronophthisis 2 |
|
Nephronophthisis, Chronic tubulointerstitial nephritis, Absence of renal corticomedullary differe... |
OMIM:602088 |
Rhabdoid Tumor |
|
Renal neoplasm, Respiratory insufficiency, Hematuria, Internal hemorrhage, Hypercalcemia, Hyperte... |
ORPHA:69077 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Muscular dystrophy, Elevated circulatin... |
OMIM:615980 |
Pituitary Gigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... |
ORPHA:99725 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hematuria, Elevated circulating... |
OMIM:612925 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Atrial septal defect, Paroxysmal atrial tachycardia, Ventricular septal def... |
ORPHA:49827 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Flexion contracture, Abnormality of the kidney, Decreased serum iron, Hypothyroidism, Diabetes me... |
ORPHA:391372 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... |
OMIM:615238 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... |
OMIM:613690 |
Grange Syndrome |
|
Ventricular septal defect, Hypertension, Aortic regurgitation |
ORPHA:79094 |
Acquired Methemoglobinemia |
|
Respiratory distress, Methemoglobinemia, Palpitations, Tachycardia, Arrhythmia, Syncope, Hypoxemi... |
ORPHA:464453 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Lymphopenia, Cerebral hemorrhage, Hypertension, Facial palsy, Ischemic stroke |
OMIM:182410 |
Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect |
OMIM:614475 |
Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... |
OMIM:300257 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Vent... |
OMIM:615616 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hematuria, Elevated circulating... |
OMIM:612922 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Hypotension, Tachypnea, Respiratory failure, Pneumonia, Hypoxemia, Cardiac arrest, N... |
ORPHA:70587 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
Senior-Loken Syndrome |
|
Hypertension, Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease |
ORPHA:3156 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Mitral regurgitation, Aortic regurgitation, Pulmonary arterial hypertension |
OMIM:614651 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Ragged-red muscle fibers, Dilated cardiomyopathy, Dyspnea, Hypertension... |
ORPHA:1349 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia, Myopathy |
ORPHA:104 |
Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Hepatomegaly, Hypoxemia, Splenomegaly, Restrictive ventilatory defect, Emphysema,... |
OMIM:612387 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Proteinuria, Hyperuricemia, Tachycardia,... |
ORPHA:94093 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Tachycardia, Elevated carcinoembryonic antigen level, Acute infec... |
ORPHA:264675 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hematuria, Elevated circulating... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hematuria, Elevated circulating... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hematuria, Elevated circulating... |
OMIM:612926 |
Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... |
ORPHA:1686 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Reduced muscle carnitine level, Hyperammonemia, Endocardial fibroelastosis, Decreas... |
OMIM:212140 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension |
OMIM:152900 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria, Hypertension |
ORPHA:220 |
Stiff-Person Syndrome |
|
Asymmetric limb muscle stiffness, Tachycardia, Axial muscle stiffness, Proximal limb muscle stiff... |
OMIM:184850 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Testicular atrophy, Hepatomegaly, Splenomegaly, Hyp... |
OMIM:235200 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hypertension, Insulin-resistant diabetes mellitus, Skeletal muscle hypertrophy |
OMIM:613877 |
Limited Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Mucosal telangiectasiae, Joint contracture of the hand, Foot joint co... |
ORPHA:220402 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Abnormal... |
ORPHA:263455 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Nephrocalcinosis, Elevated circulating alkaline phosphatase concent... |
OMIM:616833 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Hypertension, Ischemic stroke, Raynaud phenomenon |
OMIM:615750 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Splenomegaly, Mitral regurgitation, Contracture of the distal interphalangeal joint... |
OMIM:607015 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Flexion contracture, Oliguria, Renal insufficiency, Hypertensive cris... |
ORPHA:220393 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Melena, Decreased glomerular filtration rate, Hematuria, Hyperkalemia, Elev... |
ORPHA:340 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... |
ORPHA:99094 |
Pulmonary Hypertension, Primary, 4 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... |
OMIM:615344 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Tachycardia, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concen... |
OMIM:255120 |
Schimke Immuno-Osseous Dysplasia |
|
Abnormal proportion of naive CD4 T cells, Proteinuria, Transient ischemic attack, Stage 5 chronic... |
ORPHA:1830 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Hypertension, Hepatomegaly, Insulin-resistant diabetes mellitus |
OMIM:608600 |
Naxos Disease |
|
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... |
OMIM:601214 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... |
ORPHA:34217 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase conc... |
ORPHA:42 |
Schimke Immunoosseous Dysplasia |
|
Nephrotic syndrome, Abnormal T cell morphology, Lymphopenia, Neutropenia, Anemia, Cerebral ischem... |
OMIM:242900 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
Cirrhosis, Familial |
|
Fulminant hepatitis, Increased level of L-fucose in urine, Increased level of propylene glycol in... |
OMIM:215600 |
Mercury Poisoning |
|
Respiratory distress, Hypokalemia, Interstitial pneumonitis, Tachycardia, Hypotension, Acute kidn... |
ORPHA:330021 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Respiratory distress, Subarachnoid hemorrhage, Hematuria, Myocardial... |
ORPHA:90068 |
Timothy Syndrome |
|
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Patent foramen oval... |
OMIM:601005 |
Tetanus |
|
Respiratory distress, Tachycardia, Elevated circulating creatine kinase concentration, Tachypnea,... |
ORPHA:3299 |
Alagille Syndrome 2 |
|
Renal tubular acidosis, Atrial septal defect, Pulmonic stenosis, Hematuria, Tetralogy of Fallot, ... |
OMIM:610205 |
Polyarteritis Nodosa |
|
Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Abnormality of the kid... |
ORPHA:767 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Premature ventricular contraction, Syncope |
OMIM:192445 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... |
OMIM:600858 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Congenital diaphragmatic hernia, Proteinuria, Renal insufficiency, Hyper... |
OMIM:166300 |
Noonan Syndrome 8 |
|
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral regurgitation, Vent... |
OMIM:615355 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Heart murmur, Transient ischemic attack, Respiratory failure,... |
ORPHA:365 |
Pheochromocytoma |
|
Renal artery stenosis, Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Pheochr... |
OMIM:171300 |
Refsum Disease, Classic |
|
Abnormal renal physiology, Arrhythmia, Limb muscle weakness, Elevated levels of phytanic acid, Ca... |
OMIM:266500 |
Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Total anomalous pulmonary venous return, Pulmonary arterial hypertension |
OMIM:106700 |
Sepsis In Premature Infants |
|
Decreased liver function, Hepatomegaly, Elevated circulating C-reactive protein concentration, Le... |
ORPHA:90051 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Elevated... |
ORPHA:85450 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Congestive heart failure, Atrial septal defect, Aort... |
ORPHA:363705 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval |
OMIM:220400 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubin... |
OMIM:269920 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Renal salt wasting |
OMIM:201910 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage, Nephropathy |
ORPHA:820 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Subarachnoid hemorrhage, Limb muscle weakness, Cardiomegaly, Increased muscle glyco... |
OMIM:232300 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Airway obstruction, Heparan sulfate excretion in urine, Enlarged kidney, Th... |
ORPHA:505248 |
Polycythemia Vera |
|
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Hepatomegaly, Splenomegaly, Res... |
ORPHA:729 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Mitral regurgitation, Mitral valve prolapse, Polycystic kidney dysplasia, Renal insufficiency, Hy... |
OMIM:173900 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism |
OMIM:603373 |
Hereditary Hemorrhagic Telangiectasia |
|
Nephrolithiasis, Telangiectasia of the skin, Mucosal telangiectasiae, Cerebral hemorrhage, Hepati... |
ORPHA:774 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Cerebral ischemia, Syncope, Thrombocytosis, Transient... |
ORPHA:71493 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Macroglossia, Hypotension, Shortened PR interval, Biventricular hypertr... |
OMIM:261740 |
Riboflavin Transporter Deficiency |
|
Sleep apnea, Respiratory insufficiency, Limb muscle weakness, Hypogonadism, Hypertension, Facial ... |
ORPHA:97229 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... |
OMIM:601419 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating alkaline phosphatase concentration, Raynaud phenomenon, Hypertension, Weakne... |
ORPHA:247691 |
Hyperaldosteronism, Familial, Type I |
|
Decreased circulating renin level, Abnormality of the urinary system, Adrenal hyperplasia, Adreno... |
OMIM:103900 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Tachycardia, Hypotension, Abnormal circulating tryptophan concentration, ... |
ORPHA:79155 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Abnormal enzyme/coenzyme activity, Aspiration pneumonia, Tachycardia, ... |
ORPHA:79264 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Recurrent pneumonia |
OMIM:616069 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Sudden cardiac death, Polymorp... |
OMIM:115000 |
Methanol Poisoning |
|
Permanent atrial fibrillation, Type II diabetes mellitus, Hyperlipidemia, Cerebral hemorrhage, In... |
ORPHA:31825 |
Liddle Syndrome 3 |
|
Hypertension, Hypokalemia |
OMIM:618126 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Anemia of inadequate production, Pulmonary venous h... |
ORPHA:3202 |
Primary Lipodystrophy |
|
Angina pectoris, Type II diabetes mellitus, Hyperlipidemia, Splenomegaly, Skeletal muscle hypertr... |
ORPHA:90970 |
Lysosomal Acid Lipase Deficiency |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Jaundice, Abnormal urin... |
ORPHA:275761 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Neutrophilia, Abnormal mast cell morphology, Splenomegaly, Leukocytosis, Myeloproli... |
ORPHA:98849 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Premature ventricular contraction, Type 2 muscle fiber atrophy, Palpit... |
OMIM:602668 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoparathyroidism, Hypocalcemia, Hypoplastic left heart, Pulmonic... |
ORPHA:3426 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Decreased DLCO, Tubulointe... |
OMIM:618913 |
Pediatric-Onset Graves Disease |
|
Graves disease, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Sinus tachyca... |
ORPHA:525731 |
Acute Intermittent Porphyria |
|
Dark urine, Dysuria, Abnormal enzyme/coenzyme activity, Respiratory paralysis, Proximal muscle we... |
ORPHA:79276 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Splenomegaly, Leukopenia, Hematuria, Thrombocytopenia, Pancytopenia, Abnormal myoca... |
ORPHA:77259 |
Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... |
OMIM:611878 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Hyperalaninemia, Hyperglycinemia, Pulmonary arterial hypertension |
OMIM:619059 |
Frasier Syndrome |
|
Nephrotic syndrome, Streak ovary, Hypergonadotropic hypogonadism, Nephroblastoma, Focal segmental... |
ORPHA:347 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
Coach Syndrome 2 |
|
Hyperechogenic kidneys, Apneic episodes in infancy, Elevated hepatic transaminase, Elevated circu... |
OMIM:619111 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Serotonin Syndrome |
|
Hepatic failure, Tachycardia, Hypotension, Tachypnea, Rhabdomyolysis, Acute kidney injury, Hypert... |
ORPHA:43116 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hepatomegaly, Hemoperitoneum, Subdural hemorrhage, Hepatic failure, Hemothorax, Neutrophi... |
ORPHA:99827 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Hypospadias, Pulmonary arterial hypertension, Skeletal muscle atrophy, Brad... |
OMIM:619272 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Hypertriglyceridemia, Hypertension, Respiratory failure, Myopathy |
ORPHA:363400 |
Scimitar Syndrome |
|
Tricuspid atresia, Respiratory distress, Anomalous pulmonary venous return, Ventricular septal de... |
ORPHA:185 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Nephronophthisis, Anemia, Polyuria, Hyposthenuria, Tubulointerstitial fibr... |
OMIM:256100 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Episodic tachypnea, Abnormal enzyme/coenzyme activity, Tachyc... |
ORPHA:348 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Decreased response to growth hormone stimulation test, Hypergonadotropic hyp... |
ORPHA:280679 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect, Patent foramen ov... |
OMIM:614261 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Skeletal muscle hypertrophy, M... |
OMIM:613327 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Crackles, Heart murmur, Cough, Iron deficiency anemia, Restrict... |
ORPHA:99931 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Renal artery stenosis, Myocardial infarction, Dilated cardiomyopathy, N... |
OMIM:208000 |
Mucopolysaccharidosis, Type X |
|
Nephrolithiasis, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve cusp... |
OMIM:619698 |
Braddock Syndrome |
|
Neonatal respiratory distress, Unilateral renal agenesis, Pulmonary arterial hypertension, Congen... |
ORPHA:52047 |
Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Episodic respiratory distress, Hypocalcemia, Facial palsy, Tachycardia... |
ORPHA:31826 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial diplegia, Quadriceps muscle weakness, Reduced left ventricular ejection fraction, Limb mus... |
ORPHA:254892 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Tachycardia, Syncope |
OMIM:615821 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Apnea, Hepatomegaly, Tachycardia, Increased urinary glycerol, Hyperventilation, Dyspnea |
OMIM:229700 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
Antisynthetase Syndrome |
|
Telangiectasia of the skin, Respiratory insufficiency, Elevated circulating creatine kinase conce... |
ORPHA:81 |
Pseudoxanthoma Elasticum |
|
Mitral stenosis, Angina pectoris, Intermittent claudication, Restrictive cardiomyopathy, Weak pul... |
OMIM:264800 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Increased total bilirubin, Autoimmune hemolytic anemia, Exer... |
ORPHA:90036 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Atrioventricular canal defec... |
OMIM:619573 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Myocarditis, Elevated circulating creatinine concentration, Pneumonia, Incr... |
ORPHA:36234 |
Carney Triad |
|
Adrenocortical adenoma, Tachycardia, Arrhythmia, Paraganglioma, Pheochromocytoma, Adrenal overact... |
ORPHA:139411 |
Multiple Endocrine Neoplasia, Type Iia |
|
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Elevated ... |
OMIM:171400 |
Glycogen Storage Disease Ic |
|
Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Spider hemangioma, Hematuria,... |
OMIM:232240 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
Romano-Ward Syndrome |
|
Torsade de pointes, Hypokalemia, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, S... |
ORPHA:101016 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Left ventricular hypertrophy, Camptodactyly, Renal insufficiency, Hydronephrosis, An... |
OMIM:611209 |
Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Hepatomegal... |
ORPHA:137675 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Torsade de pointes, Ketonuria, Hyperammonemia, ... |
OMIM:616878 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, Maternal diabetes, Calf muscle pseudohyp... |
ORPHA:79083 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy |
OMIM:614458 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Testicular atrophy, Hepatomegaly, Decreased muscle ... |
ORPHA:465508 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Raynaud phenomenon, Mitral regurgitation, Leukopenia, Autoimmune thrombocytopenia, H... |
OMIM:301080 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... |
OMIM:618620 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia |
OMIM:300952 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Hypertensi... |
ORPHA:403 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Hypertensi... |
ORPHA:404 |
Duodenal Neuroendocrine Tumor |
|
Melena, Hepatic failure, Tricuspid stenosis, Intestinal carcinoid, Right ventricular failure, Pal... |
ORPHA:100076 |
Scorpion Envenomation |
|
Glycosuria, Elevated circulating aspartate aminotransferase concentration, Myocarditis, Bundle br... |
ORPHA:466677 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Tachycardia, Anisopoikilocytosis, Macrocytic anemia, Thrombocy... |
ORPHA:35858 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Urachus fistula, Cor triatriatum, Splenomegaly, Recurrent urinary tract infections,... |
OMIM:612541 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
Glutaric Aciduria Iii |
|
Glutaric aciduria, Hypertension, Goiter, Hyperthyroidism |
OMIM:231690 |
Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... |
OMIM:617222 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Abnormal T-wave, Decreased circulating renin level, Neoplasm of the adrenal gland, I... |
ORPHA:231625 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Hematuria, Myocarditis, Myocardial infarction, Proteinuria, Transient ischemic attack, Recurrent ... |
ORPHA:183 |
Keutel Syndrome |
|
Ventricular septal defect, Pulmonary arterial hypertension, Recurrent sinusitis |
ORPHA:85202 |
Alstrom Syndrome |
|
Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Hyperur... |
OMIM:203800 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617182 |
Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
Truncus Arteriosus |
|
Abnormal heart valve physiology, Adrenocortical abnormality, Atrial septal defect, Right ventricu... |
ORPHA:3384 |
Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Hepato... |
ORPHA:75249 |
Tularemia |
|
Respiratory distress, Leukocytosis, Tachycardia, Cough, Pleural effusion, Pneumonia, Anemia, Thro... |
ORPHA:3392 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypertension, Type I diabetes mellitus, Anterior hypopituitarism |
ORPHA:181 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Hypoxemia, Nonproductive cough, Crackles, ... |
ORPHA:79126 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... |
OMIM:616201 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Hyperkalemia |
ORPHA:757 |
Ganglioneuroma |
|
Neoplasm of the adrenal gland, Central hypoventilation, Abnormality of the adrenal glands, Gastro... |
ORPHA:251992 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemoglobinuria, Glycosuria, Myocardial infarction, Proteinuria, Reduced haptoglobin level, Pancyt... |
ORPHA:447 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Iron deficiency anemia, Ventricu... |
ORPHA:90647 |
Gaucher Disease Type 3 |
|
Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcification, Hematuria, Th... |
ORPHA:77261 |
Melas |
|
Type I diabetes mellitus, Proteinuria, Proximal tubulopathy, Hypoparathyroidism, Concentric hyper... |
ORPHA:550 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Anemia, Impaired renal uric acid cle... |
OMIM:174000 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Splenomegaly, Leukopenia, Nephropathy, Myositis, Myocarditis, Hemolytic anemia, Dys... |
ORPHA:809 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Tachycardia, Lower limb muscle weakness |
OMIM:619737 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aorti... |
ORPHA:210122 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hypokalemia, Hyperthyroidism, Tachycardia, Goiter |
OMIM:613239 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari... |
OMIM:256550 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Arrhythmia, Bradycardia, Atrial fibrillation, Proximal amyotrophy |
OMIM:614302 |
Seckel Syndrome 10 |
|
Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Glycosuria, Elevated cir... |
OMIM:617253 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Central apnea, Pulmonary arterial hypertension, Sleep apnea, Congestive heart failure |
OMIM:616482 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Upper limb muscle weakness, Vasculitis, Cerebral ischemia, Total anomalo... |
ORPHA:494424 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Hypertension, Retic... |
ORPHA:90044 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Abnormality of the endocrine system, Renal artery stenosis, Lymphopenia, Neutropenia in presence ... |
ORPHA:391487 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscle fiber atrophy, Flexion contracture, Absent muscle fiber merosin, Macroglossia, Muscular dy... |
ORPHA:258 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Ventricular arrhythmia, Hyperkalemia |
OMIM:141000 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension, Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney d... |
OMIM:618061 |
Scleroderma |
|
Chronic kidney disease, Transient ischemic attack, Intestinal bleeding, Flexion contracture, Rayn... |
ORPHA:801 |
Pulmonary Hypertension, Primary, 3 |
|
Dyspnea, Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary... |
OMIM:615343 |
Alport Syndrome 2, Autosomal Recessive |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... |
OMIM:203780 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Polycystic kidney dysplasia, Decreased liver function |
OMIM:600666 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pneumonia, Cardiomegaly, Abnorm... |
ORPHA:95430 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Apnea, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ve... |
OMIM:612949 |
Cholera |
|
Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Hypovolemic shock, Aspiration pneumoni... |
ORPHA:173 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... |
OMIM:123550 |
Porphyria, Acute Intermittent |
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Dysuria, Respiratory paralysis, Tachycardia, Elevated urinary delta-aminolevulinic acid, Urinary ... |
OMIM:176000 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Flexion contracture of finger, Hepatomegaly, Hypergonadotropic hypogonadism, Ventricular septal d... |
OMIM:602782 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Left ventricular hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentrat... |
OMIM:613153 |
Simple Cryoglobulinemia |
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Abnormal heart morphology, Nephrotic syndrome, Mesangial hypercellularity, Nephritis, Viral hepat... |
ORPHA:91139 |
Kagami-Ogata Syndrome |
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Diastasis recti, Atrial septal defect, Hepatomegaly, Flexion contracture, Splenomegaly, Pulmonic ... |
OMIM:608149 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
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Tachycardia, Hypoproteinemia |
OMIM:221400 |
Autosomal Recessive Centronuclear Myopathy |
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Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, R... |
ORPHA:169186 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Respiratory distress, Atrial septal defect, Micropenis, Congenital hypothyroidism, Ventricular se... |
ORPHA:2519 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Hepatomegaly, Respiratory arrest, Hyperammonemia, Sudden cardiac death, Elevated circulating crea... |
OMIM:201475 |
Wild Type Attr Amyloidosis |
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Nephrotic syndrome, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Orthos... |
ORPHA:330001 |
Acquired Generalized Lipodystrophy |
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Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Calf muscle pseudohyper... |
ORPHA:79086 |
Pulmonary Hypertension, Primary, 2 |
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Pulmonary arterial hypertension, Abnormally loud pulmonic component of the second heart sound, In... |
OMIM:615342 |
Yellow Nail Syndrome |
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Sinusitis, Rhinitis, Renal neoplasm, Nephropathy, Cough, Bronchiectasis, Dyspnea, Pulmonary arter... |
ORPHA:662 |
Jervell And Lange-Nielsen Syndrome 2 |
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Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... |
OMIM:612347 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
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Cerebral hemorrhage, Intracranial hemorrhage, Stress urinary incontinence, Cerebral ischemia, Lac... |
ORPHA:136 |
Ochoa Syndrome |
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Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Hy... |
ORPHA:2704 |
Atrial Fibrillation, Familial, 18 |
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Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Enlarged kidney, T... |
OMIM:263200 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
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Bradycardia |
OMIM:619521 |
Brain-Lung-Thyroid Syndrome |
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Hypoparathyroidism, Abnormal cardiac septum morphology, Respiratory distress, Abnormality of the ... |
ORPHA:209905 |
Cardiogenic Shock |
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