Hypertension, Essential |
|
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure |
OMIM:145500 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... |
OMIM:612201 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Muscle Filaminopathy |
|
Extremely elevated creatine kinase, Scapular winging, Left ventricular diastolic dysfunction, Fat... |
ORPHA:171445 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... |
OMIM:613838 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... |
ORPHA:563 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... |
OMIM:610476 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Hyperalaninemia, Increased urine succinate level, Apnea, E... |
OMIM:619048 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular failure, Exertional dyspnea, Syncope, Pulmonary arterial hyper... |
OMIM:265400 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi... |
OMIM:540000 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension, Increased urinary porphobilinoge... |
OMIM:121300 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... |
OMIM:613876 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Elevated circulating creatine kinase concentration, Congestive heart failure, Quadriceps muscle w... |
ORPHA:206546 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... |
OMIM:608758 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Hypertension, Proteinuria, Thrombocytopenia |
OMIM:189800 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... |
OMIM:612098 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... |
OMIM:604765 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
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 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... |
OMIM:620056 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Abnormal macrophage morphology, Elevated circula... |
ORPHA:353 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... |
ORPHA:75566 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... |
ORPHA:422 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Maternal diabetes, Cardiomegaly, Tachypnea, Dextrotransposition of the great arter... |
ORPHA:860 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... |
ORPHA:275766 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal left ventricula... |
ORPHA:2041 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
Complete Atrioventricular Septal Defect |
|
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... |
ORPHA:1329 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp... |
OMIM:613873 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... |
ORPHA:99095 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent... |
ORPHA:324604 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Elevated circulating creatinine concentration, Hyperte... |
OMIM:616733 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Diabetes mellitus, Hypercholesterolemia, Myocardial infarction |
OMIM:608320 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Respira... |
OMIM:255100 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Myofibrillar Myopathy 10 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont... |
OMIM:619040 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... |
ORPHA:57777 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent... |
ORPHA:90064 |
Heparin-Induced Thrombocytopenia |
|
Myocardial infarction, Autoimmune thrombocytopenia, Pulmonary embolism, Cerebral ischemia, Increa... |
ORPHA:3325 |
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 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... |
OMIM:617021 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension, Nephropathy, Proteinuria |
ORPHA:2820 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Fabry Disease |
|
Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Proteinur... |
OMIM:301500 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Centrally nucleated ske... |
ORPHA:86812 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Decreased muscle glycogen content, Ventricular tachycardia, Upper limb mus... |
ORPHA:263297 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... |
ORPHA:1345 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:54370 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Type II... |
ORPHA:225 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:613944 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Thrombocytopenia |
OMIM:166990 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... |
OMIM:615474 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... |
OMIM:616818 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Respir... |
ORPHA:308552 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... |
ORPHA:3287 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc... |
OMIM:610947 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Hepatomegaly, Elevated hepatic transaminase, Cardiomegaly, Hyperprolinemia, Pulm... |
OMIM:619064 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Cardiomegaly, Hypothyroidism, Ventri... |
OMIM:601005 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Br... |
OMIM:616299 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta... |
OMIM:603965 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Hypertension, Transient ischemic attack |
OMIM:616779 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega... |
ORPHA:2414 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
Preeclampsia |
|
Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El... |
ORPHA:275555 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Respiratory insufficiency, Bradycardia, Left ventricular hypertrophy, Hyperalaninemia, Decreased ... |
OMIM:614654 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Lacticaciduria, Hyperproli... |
OMIM:619003 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo... |
OMIM:265450 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, Myopathy, 3-Methylglutaconic aci... |
OMIM:212350 |
Congenital Myopathy 8 |
|
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea... |
OMIM:618654 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Hypertension, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Variegate Porphyria |
|
Increased urinary porphobilinogen, Tachycardia, Elevated urinary delta-aminolevulinic acid, Porph... |
OMIM:176200 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
Overlap Myositis |
|
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Abnormal circulating lipi... |
ORPHA:206572 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Hyperinsulinemia, Decreased circulating free fatty acid level, Syncope... |
ORPHA:276575 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Splenic rupture, Left ventricular hypertrophy, Micropenis, Internal hemorrhage, Righ... |
ORPHA:335 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Congestive heart failure, Camptodactyly, Pulmonary arterial hypertension, T... |
OMIM:619751 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Leukocytosi... |
ORPHA:90065 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Hyperalaninemia, Congestive heart failure, Pulmonary arterial hypertension |
OMIM:616045 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Respirator... |
OMIM:613156 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dyspnea, Achilles te... |
OMIM:615418 |
Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... |
OMIM:615770 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Hemolytic anemia, Thrombocytosis, Elevated circulating aspartate aminotransferase c... |
OMIM:614034 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic aciduria, Card... |
OMIM:212138 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Elevated circulating cre... |
ORPHA:268 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrh... |
ORPHA:449285 |
Focal Segmental Glomerulosclerosis 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi... |
OMIM:613237 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal... |
ORPHA:320 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Hyperinsulinemia, Syncope, Type I diabetes mellitus... |
ORPHA:276580 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentrati... |
OMIM:618886 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Thrombo... |
OMIM:613845 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis |
OMIM:607832 |
Relapsing Fever |
|
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-react... |
ORPHA:91547 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Hy... |
ORPHA:276556 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:615184 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... |
OMIM:614473 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir... |
OMIM:616974 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Left ventricular hypertrophy, Left atrial... |
OMIM:300280 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Thrombocytopenia, Hy... |
OMIM:230800 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardio... |
ORPHA:555874 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Elevated circulating creatine ... |
OMIM:253700 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:161950 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Decreased serum insulin-like growth fac... |
OMIM:614921 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... |
ORPHA:369929 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Skeletal muscle atrophy, Tachycardia, Elevated circulating creatine kinase concentrat... |
ORPHA:368 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Hypertension, Nephrotic syndrome, Type I diabetes mellitus, Abnormal mitral valve mo... |
ORPHA:1192 |
Liddle Syndrome |
|
Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia |
ORPHA:526 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Tach... |
ORPHA:45452 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Maturity-onset diabetes of the young, Hyperinsuline... |
ORPHA:324575 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic sy... |
ORPHA:84090 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... |
OMIM:611705 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... |
ORPHA:90037 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Dyspnea, Pulmonary arterial hypertension, Decreased DLCO, Cough |
OMIM:234810 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Elevated hepatic iron concentration, Erythroid hyperplasia, Hypothy... |
ORPHA:231222 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hyperalaninemia, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, ... |
OMIM:619051 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract... |
OMIM:613870 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Elevated hepatic transaminase, Elevated circulating dodecanoylcar... |
OMIM:619355 |
Aapoaiv Amyloidosis |
|
Left bundle branch block, Sinus bradycardia, Chronic pulmonary obstruction, Elevated circulating ... |
ORPHA:439232 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase... |
OMIM:617713 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomer... |
OMIM:603278 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypertension, Cardiomyopathy, Hyperuricemia, Arrhythmia |
ORPHA:3222 |
Antithrombin Iii Deficiency |
|
Arterial occlusion, Pulmonary embolism |
OMIM:613118 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Skeletal muscle atrophy, Apnea, Respiratory insufficiency, Left ventricular hypertrophy, Hypertro... |
OMIM:618228 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Cln3 Disease |
|
Vacuolated lymphocytes, Increased circulating androgen concentration, T-wave inversion, Bradycard... |
ORPHA:228346 |
Lessel-Kubisch Syndrome |
|
Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia |
OMIM:618681 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hy... |
OMIM:145600 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Vesi... |
ORPHA:3208 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia, Rhinorrhea |
OMIM:167400 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... |
ORPHA:217563 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Pro... |
OMIM:613404 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Tachypnea, Met... |
OMIM:614857 |
Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... |
ORPHA:2299 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171420 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phy... |
ORPHA:85447 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria... |
OMIM:300887 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Hereditary Coproporphyria |
|
Hyponatremia, Proximal muscle weakness in upper limbs, Tachycardia, Dark urine, Abnormal circulat... |
ORPHA:79273 |
Pulmonary Arteriovenous Malformation |
|
Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Heart murmur, Telang... |
ORPHA:2038 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Micropenis, Hypothyroidism, Hepatomegaly, Hemolytic anemia, Portal hypertension,... |
OMIM:619487 |
Familial Cervical Artery Dissection |
|
Diabetes mellitus, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recurrent ce... |
ORPHA:36382 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia, Respiratory insufficiency |
ORPHA:2111 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... |
OMIM:605373 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Nephrogenic diabe... |
OMIM:208085 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... |
OMIM:115197 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hype... |
OMIM:616028 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Respirator... |
ORPHA:746 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... |
ORPHA:90033 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Porphyria Variegata |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Tachycardia... |
ORPHA:79473 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Diabetes mellitus, Hyperinsulinemia, Hepatomegaly |
ORPHA:79084 |
Potocki-Shaffer Syndrome |
|
Nephroblastoma, Hypertension, Delayed puberty, Micropenis, Hypothyroidism, Anemia |
ORPHA:52022 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Elevated circulating creatine kinase concentration, Tac... |
ORPHA:26793 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Calf muscle h... |
ORPHA:280356 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... |
OMIM:614096 |
Stiff-Person Syndrome |
|
Tachycardia, Diabetes mellitus, Anemia, Hypertension, Proximal limb muscle stiffness, Asymmetric ... |
OMIM:184850 |
Adenine Phosphoribosyltransferase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Recurrent urinary tract infections, Renal ... |
ORPHA:976 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Abnormal circulating enzyme conc... |
ORPHA:98915 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Glycogen Storage Disease Xv |
|
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... |
OMIM:613507 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Mitral ... |
OMIM:619167 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated creatine kinase after exercise, Sudden epis... |
ORPHA:159 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... |
OMIM:603903 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Hyperkalemia, Elevated... |
OMIM:602088 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Maternal diabetes, Neonatal asphyxia, Wheezing, Pneumothorax, Abnormal hear... |
ORPHA:70588 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Emphysema,... |
ORPHA:324 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... |
OMIM:168000 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Tachyp... |
ORPHA:71275 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir... |
OMIM:613095 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... |
ORPHA:615 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Thrombocytopenia |
ORPHA:401945 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Rhabdomyolysis, Hypokalemia, Palpitations, Goiter |
OMIM:188580 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Nonproductive cough, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Bron... |
ORPHA:980 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Heart block, Tachypnea, Elevated circulating creatini... |
ORPHA:542323 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, High-o... |
ORPHA:423 |
Eisenmenger Syndrome |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... |
ORPHA:97214 |
Interstitial Lung Disease 2 |
|
Dyspnea, Cough, Decreased DLCO, Pulmonary arterial hypertension, Exertional dyspnea |
OMIM:178500 |
Acquired Methemoglobinemia |
|
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemo... |
ORPHA:464453 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Ischemic stroke, Lymphopenia |
OMIM:182410 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Congestive heart failure, Dyspnea, Ragged-red muscle fibers, Dilated ca... |
ORPHA:1349 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... |
OMIM:619566 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Thrombocytopenia, Respiratory insufficiency, Hematuria, Hypertensi... |
ORPHA:69077 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Ventricular septal defect |
ORPHA:79094 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Abnormality of the kidney, Decreased serum iron, Flexion contracture, Abnormal... |
ORPHA:391372 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Tachypnea, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota... |
OMIM:267010 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Cardiac shunt, Elevated circulating C-reactive protein concentration, Rig... |
ORPHA:70591 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Hyperten... |
OMIM:615238 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Diabetes mellitus, Elevated circulating creatine kinase concentration, H... |
OMIM:615980 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:603373 |
Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Increased circulating insulin-like growth fact... |
ORPHA:99725 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Hypoxemia, Restr... |
OMIM:612387 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... |
ORPHA:70587 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Paroxysmal at... |
ORPHA:49827 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyp... |
ORPHA:94093 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Senior-Loken Syndrome |
|
Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612926 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Abnormal c... |
ORPHA:264675 |
Refsum Disease, Classic |
|
Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Congestive heart failure, Elevated ci... |
OMIM:266500 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Leber Hereditary Optic Neuropathy |
|
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotr... |
OMIM:212140 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612924 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Nephrocalcinosis, Elevated circulating alkaline phosphatase concent... |
OMIM:616833 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... |
OMIM:235200 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... |
OMIM:613243 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Renal insufficiency, Transient ischemic attack, Proteinuria, Dyspnea, Thrombocytope... |
OMIM:242900 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated urinary 3-hydroxyb... |
ORPHA:42 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Dyspnea, Flexion contr... |
ORPHA:220393 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension |
OMIM:152900 |
Lipodystrophy, Familial Partial, Type 4 |
|
Skeletal muscle hypertrophy, Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
OMIM:613877 |
Denys-Drash Syndrome |
|
Proteinuria, Hypertension, Nephrotic syndrome, Nephropathy, Nephroblastoma |
ORPHA:220 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... |
ORPHA:330021 |
Limited Cutaneous Systemic Sclerosis |
|
Foot joint contracture, Telangiectasia of the skin, Pulmonary arterial hypertension, Joint contra... |
ORPHA:220402 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Decreas... |
ORPHA:1830 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Abnormal circulating fatty... |
ORPHA:263455 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:613239 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo... |
ORPHA:340 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke, Thrombocytopenia |
OMIM:615750 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatomegaly |
OMIM:608600 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
Tetanus |
|
Respiratory distress, Tachycardia, Elevated circulating creatine kinase concentration, Elevated u... |
ORPHA:3299 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Glutaric aciduria, Hypertension, Reduced peroxisomal glutaryl-CoA oxidase activi... |
OMIM:231690 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
ORPHA:276608 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu... |
OMIM:610205 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... |
OMIM:611489 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfa... |
OMIM:607015 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Polyarteritis Nodosa |
|
Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, R... |
ORPHA:767 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation |
OMIM:614651 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease... |
OMIM:166300 |
Cirrhosis, Familial |
|
Jaundice, Fulminant hepatitis, Increased level of L-fucose in urine, Hypertension, Increased leve... |
OMIM:215600 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Abnormal mucociliary clearance, Elevated circulating C-reactive protei... |
ORPHA:90051 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171300 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Nephropathy |
ORPHA:820 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Pleural effusion, Mitral regurgitation, Pulmonic stenosis, Atrial sept... |
OMIM:615355 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... |
ORPHA:90068 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Flexion c... |
ORPHA:365 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Splenomegaly... |
OMIM:269920 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... |
OMIM:232300 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Hypertension, Tubulointer... |
OMIM:615862 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal circulating enzyme concentration or activity, Tachycardia, Apnea, Episodic tachypnea, Ab... |
ORPHA:79264 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Abnormality of the... |
OMIM:103900 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Proteinuria, Pneumonia, Raynaud phenomenon, Nephr... |
ORPHA:247691 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory distress, Bicuspid aortic ... |
ORPHA:363705 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, EMG: myop... |
OMIM:601419 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... |
OMIM:602668 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension |
OMIM:201910 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephri... |
ORPHA:94080 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitation, Polycystic kidney... |
OMIM:173900 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... |
ORPHA:774 |
Scimitar Syndrome |
|
Respiratory distress, Heart block, Hypoplasia of the diaphragm, Cough, Atrial septal defect, Sing... |
ORPHA:185 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Flexion contracture, Leukopenia, Hypoalbuminemia, Atrial septal defect, Pat... |
ORPHA:505248 |
High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegaly, Chronic myelogen... |
ORPHA:71493 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Vacuolated lymphocytes, Hypona... |
ORPHA:275761 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Pericardial effusion, Splenomegaly, Abnormal myocardium ... |
ORPHA:77259 |
Hydroxykynureninuria |
|
Tachycardia, Breathing dysregulation, Abnormal circulating tryptophan concentration, Renal tubula... |
ORPHA:79155 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Puberty and gonadal disorders, ... |
ORPHA:525731 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Tachypnea, Double outlet right ventri... |
ORPHA:3426 |
Acute Intermittent Porphyria |
|
Hyponatremia, Abnormal circulating enzyme concentration or activity, Tachycardia, Proximal muscle... |
ORPHA:79276 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hypertension, Apnei... |
OMIM:619111 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Hypop... |
OMIM:618913 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Hyperalaninemia, Pulmonary arterial hypertension, Hyperglycinemia |
OMIM:619059 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency, Hypertension, Hypogonadism, Lim... |
ORPHA:97229 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Increased variability in muscle fiber diamete... |
OMIM:620265 |
Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy, Dyspnea |
OMIM:620145 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Hyperglycinuria, R... |
OMIM:605711 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati... |
OMIM:301080 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Tachycardia, Neutrophilia, Acute myeloid leukemia, Eosinophilia,... |
ORPHA:98849 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin... |
OMIM:613327 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
ORPHA:280679 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Increased urinary glycerol, Apnea, Dyspnea, Hyperventilation |
OMIM:229700 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Skeletal muscle atrophy, Hypospadias, Bradycardia, Pulmonary arterial hyper... |
OMIM:619272 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, I... |
ORPHA:347 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dil... |
OMIM:208000 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Crackles, Cardiomegaly, Diffuse alveolar hemorrhage, Dyspnea, H... |
ORPHA:99931 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... |
OMIM:618620 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hyperinsulinemia, Hypertension, Respiratory failure, Myopathy |
ORPHA:363400 |
Serotonin Syndrome |
|
Tachycardia, Rhabdomyolysis, Tachypnea, Hypertension, Hypotension, Hepatic failure, Acute kidney ... |
ORPHA:43116 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Elevated gamma-glutamyltransferase level, ... |
OMIM:619573 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... |
OMIM:171400 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Ragged-red muscle... |
ORPHA:254892 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ketonuria, Cardiac arrest, Acute rhabdomyolysis, Premature thelarc... |
OMIM:616878 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Myositis, Telangiectasia of the skin, Elevated circulating creatine kinase ... |
ORPHA:81 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Anemia, Hypertension, Pheochromocytoma,... |
ORPHA:139411 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating enzyme concentrati... |
ORPHA:348 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Myositis, Sinusitis, Elevated circulating creatine kinase concentration, Ta... |
ORPHA:36234 |
Braddock Syndrome |
|
Unilateral renal agenesis, Pulmonary arterial hypertension, Neonatal respiratory distress, Congen... |
ORPHA:52047 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Hypertriglyceridemia, Maternal di... |
ORPHA:79083 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Facial palsy... |
ORPHA:31826 |
Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Thickened aortic valve cusp, Nephrolithiasis, Dermatan sulfate excretion in... |
OMIM:619698 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy, Increased urine alpha-ketoglutarate concentration |
OMIM:614458 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Exertional dyspnea, Increased t... |
ORPHA:90036 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate ... |
OMIM:617253 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... |
ORPHA:231625 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Hyperlipid... |
OMIM:232240 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, S... |
ORPHA:75249 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... |
OMIM:203800 |
Tularemia |
|
Respiratory distress, Tachycardia, Pneumonia, Thrombocytopenia, Leukocytosis, Cough, Pleural effu... |
ORPHA:3392 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Hyperkalemia |
ORPHA:757 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia, Ventricular arrhythmia |
OMIM:141000 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Gaisböck Syndrome |
|
Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Splenomegaly, Dy... |
ORPHA:90041 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Cough, Glomerulopathy, ... |
ORPHA:183 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Hypergonadotropic hypogonadism, Lower limb muscle weakness |
OMIM:619737 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, Elevated circulating creati... |
OMIM:201475 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Rig... |
OMIM:614261 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia,... |
ORPHA:35858 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Central hypoventilation, Neoplasm of the adrenal gland, Hypertension... |
ORPHA:251992 |
Acute Interstitial Pneumonia |
|
Crackles, Elevated circulating C-reactive protein concentration, Pericardial effusion, Nonproduct... |
ORPHA:79126 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Recurrent sinusitis |
ORPHA:85202 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... |
OMIM:261740 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Decreased serum testosterone concentration, Hypogonadotropic... |
ORPHA:465508 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Renal Hypoplasia |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ... |
ORPHA:93101 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Er... |
ORPHA:447 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, R... |
OMIM:612541 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... |
ORPHA:90647 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, I... |
ORPHA:136 |
Melas |
|
Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Nephropathy, Hypothyroidism, Abnormal m... |
ORPHA:550 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... |
OMIM:123550 |
Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Tachypnea, Prominent U wave, ... |
ORPHA:466677 |
Porphyria, Acute Intermittent |
|
Tachycardia, Urinary incontinence, Dysuria, Hypertension, Urinary retention, Respiratory paralysi... |
OMIM:176000 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve... |
ORPHA:210122 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Functional abnormality of the bladder, T lymphocytopenia, Patent foramen ovale, Autoimmune thromb... |
ORPHA:391487 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hypertrophic cardiomyopathy, Bradycardia, Hyp... |
OMIM:614702 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Hemolytic anemia, Myocarditis,... |
ORPHA:809 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Apnea, Type 1 muscle fiber predominance, Right ve... |
OMIM:612949 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Leukocytosis, Bronchi... |
OMIM:620233 |
Extracranial Carotid Artery Aneurysm |
|
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Upper limb muscle weakness, Hypertension,... |
ORPHA:494424 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Neonatal respiratory distress, Proteinuria, Chronic kidney disease, Hyperkalemia, R... |
ORPHA:97362 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... |
ORPHA:90044 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Aspira... |
ORPHA:258 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
OMIM:300845 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Decreased liver function, Polycystic kidney dysplasia |
OMIM:600666 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu... |
OMIM:256550 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism |
ORPHA:181 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Proteinu... |
ORPHA:77261 |
Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte... |
OMIM:615343 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Respiratory distress, Ventricular s... |
ORPHA:209905 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Tachypnea, Abnormal blood ion concentr... |
ORPHA:173 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... |
OMIM:618061 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Elevated urinary cate... |
OMIM:115310 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... |
ORPHA:169186 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Muscular dystro... |
OMIM:613153 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Diastasis recti, Splenomegaly, Flexion contracture, Pulm... |
OMIM:608149 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h... |
ORPHA:330001 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Neonatal respiratory distress, Ventricular septal defect, Apnea, Flexion contracture... |
OMIM:614653 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Yellow Nail Syndrome |
|
Renal neoplasm, Sinusitis, Dyspnea, Nephropathy, Bronchiectasis, Rhinitis, Cough, Pulmonary arter... |
ORPHA:662 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia |
OMIM:221400 |
Liddle Syndrome 1 |
|
Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease... |
OMIM:177200 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Pulmonary Hypertension, Primary, 2 |
|
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni... |
OMIM:615342 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Proteinuria, Insulin-resistant... |
ORPHA:79086 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve... |
ORPHA:230851 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Ventricular septal defect, Congenital hypothyroidism, Atrial septal defect,... |
ORPHA:2519 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Decreased glomerular filtration rate, Ch... |
ORPHA:730 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Respiratory insufficiency, Hypoplastic left heart, Bradycardia, Hypert... |
OMIM:616276 |
Nestor-Guillermo Progeria Syndrome |
|
Left atrial enlargement, Decreased serum leptin, Dyspnea, Flexion contracture, Right bundle branc... |
OMIM:614008 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Decreased forced expiratory flow 25-75%, Camptodactyly of finger, Ankle flexion contracture, Cent... |
OMIM:617072 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Thickening of the tubular basement membrane, Portal hypertension, ... |
ORPHA:84081 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Int... |
ORPHA:90291 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Tachycardia, Dupuytren contracture, Myosi... |
ORPHA:39812 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Dysuria, Urinary incontinence, Abnormality of circulating catecholamine ... |
ORPHA:441 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Recurrent pneumonia |
OMIM:616069 |
Poems Syndrome |
|
Diabetes mellitus, Thrombocytosis, Polycythemia, Pericardial effusion, Abnormality of the endocri... |
ORPHA:2905 |
Gitelman Syndrome |
|
Prolonged QT interval, Polyuria, Renal magnesium wasting, Hypomagnesemia, Rhabdomyolysis, Ventric... |
OMIM:263800 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca... |
OMIM:618234 |
19P13.3 Microduplication Syndrome |
|
Precocious puberty, Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:447980 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Unilateral renal agenesis, Sec... |
ORPHA:2260 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
Stiff Skin Syndrome |
|
Nephrolithiasis, Hypertension, Abnormal circulating lipid concentration, Type II diabetes mellitus |
ORPHA:2833 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c... |
OMIM:265380 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T... |
ORPHA:228308 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Microcytic anemia, Congestive hear... |
ORPHA:90308 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Myocardial infarction, Myoca... |
ORPHA:892 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Incr... |
ORPHA:251004 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... |
ORPHA:231580 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... |
OMIM:604367 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614495 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Glomerulopathy, Hemolytic-uremic syndrome, Hy... |
ORPHA:2169 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation |
OMIM:619483 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:218030 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:609152 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr... |
ORPHA:276621 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Atrial septal defect, Hypertension, Tachypnea, Pulmonary arterial hypertension |
OMIM:613834 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Hematuria, Syncope, Renal artery stenosis, Mic... |
ORPHA:71273 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte... |
ORPHA:77296 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... |
OMIM:615954 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Methylma... |
ORPHA:79282 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy, Pancytopenia |
OMIM:618321 |
Birk-Landau-Perez Syndrome |
|
Neonatal respiratory distress, Stage 3 chronic kidney disease, Facial hypotonia, Renal insufficie... |
OMIM:617595 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98855 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Decreased glomer... |
OMIM:232200 |
Liddle Syndrome 2 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:618126 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo... |
ORPHA:99050 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Decreased response to growth hormone stimulation test, Abnormal heart morphology, Ab... |
ORPHA:485405 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertens... |
OMIM:219080 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... |
OMIM:614302 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Leukopenia... |
ORPHA:974 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure |
OMIM:178400 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
Nephroblastoma |
|
Hematuria, Hypertension, Nephroblastoma |
ORPHA:654 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98853 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Ventricular septal defect, Respiratory failure, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:616277 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Dec... |
OMIM:613677 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Paroxysmal Hemicrania |
|
Hypertension, Rhinitis, Diabetes mellitus, Rhinorrhea |
ORPHA:157835 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... |
OMIM:301050 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Apnea, Elevated circulating creatine kinase concentration, Cardiomegaly, In... |
OMIM:608836 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple... |
OMIM:216360 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy, Nonketotic hyperglycinemia |
ORPHA:401866 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Tetrasomy 5P |
|
Respiratory distress, Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall musculat... |
ORPHA:3309 |
Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Chronic kidney disease, Hypertension, Delayed puberty, Anemia |
OMIM:208060 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Reduced leukocyte arylsulfatase B activity, Spl... |
OMIM:253200 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Accessory spleen, Acute respiratory distress syndrome, Severe B ly... |
OMIM:620005 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constricti... |
OMIM:253250 |
Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypertension, Nephrot... |
ORPHA:110 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614496 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Dilated cardiomyopathy, Flexion contracture, Micropenis, Bradycardia, Hypertrophic c... |
OMIM:618815 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98863 |
Postorgasmic Illness Syndrome |
|
Hypertension, Palpitations |
ORPHA:279947 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... |
OMIM:256700 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Renal cortical adenoma, Hyperte... |
ORPHA:231632 |
Geleophysic Dysplasia 2 |
|
Hepatomegaly, Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolapse, Mitral regurg... |
OMIM:614185 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Dyspnea, Hypoxemia,... |
ORPHA:199241 |
Caudal Regression Syndrome |
|
Ureteral duplication, Decreased muscle mass, Renal insufficiency, Renal agenesis, Maternal diabet... |
ORPHA:3027 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Isosexual precocio... |
ORPHA:90795 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Ventricular septal defect, Proteinuria, Unilateral renal age... |
ORPHA:411709 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Respiratory failure requiring assisted ventilation, Abnorm... |
ORPHA:576 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... |
OMIM:614492 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr... |
ORPHA:29072 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Respiratory insufficiency due to muscle weakness, Dyspnea, Hyperten... |
ORPHA:178478 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Patent foramen ovale, Hypertro... |
ORPHA:280633 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Alport Syndrome |
|
Mesangial hypercellularity, Cough, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 depositi... |
ORPHA:63 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:612336 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, S... |
OMIM:232220 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Recurrent pneumonia, Atrial septal defect, Pulmonary arte... |
OMIM:616449 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes insipidus, Asthma, Hypertensio... |
OMIM:209900 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ... |
OMIM:615067 |
Familial Cerebral Saccular Aneurysm |
|
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage |
ORPHA:231160 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary arterial hype... |
ORPHA:228116 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Anemia |
ORPHA:858 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... |
ORPHA:95717 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Minimal change glomerulonephritis, Dyspnea, Hyperlipidemia, Chronic kidney di... |
ORPHA:567546 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Hyperalaninemia, Hypertrophic cardiomyopathy, Respiratory insuffi... |
OMIM:618378 |
Juvenile Paget Disease |
|
Hypertension, Hyperuricemia |
ORPHA:2801 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... |
OMIM:618652 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Apnea, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618235 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Weakness of facial musculat... |
OMIM:254940 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... |
OMIM:615830 |
X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Hypomimic face |
ORPHA:93952 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Abnormal left ventricular function, Paroxysmal dyspnea, Exert... |
ORPHA:229 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Nonproductive cough, Leukopenia, Hypoalbumine... |
ORPHA:99826 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Congenital contracture, Dyspnea |
ORPHA:261279 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Pleural effusion, Mitral regur... |
OMIM:616564 |
Osteopetrosis With Renal Tubular Acidosis |
|
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Pancytopenia, Elevated circu... |
ORPHA:2785 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ... |
ORPHA:90793 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Orthostatic hypotension, Tachycardia, Renal insufficiency, Abnormal... |
ORPHA:1764 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Proteinuria, Dyspnea, Increased DLCO, Leukocy... |
ORPHA:90060 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Eleva... |
ORPHA:90038 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy... |
OMIM:615745 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Urinary incontinence, Congestive heart failure, Respiratory ... |
OMIM:616482 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Absence of renal corticomedullary differentiation, Secundum atrial septal defect, Renal hypoplasi... |
OMIM:619758 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Reduced beta-hexosaminidase activ... |
OMIM:268800 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Leukocytosis, Tachypnea, Hyperammonemia, Hypertension, Hyperuricemia, Hy... |
ORPHA:134 |
Ogden Syndrome |
|
Bicuspid aortic valve, Apnea, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Ven... |
OMIM:300855 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Cough, Abnormal... |
ORPHA:900 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Elevated circulating creatine kinase concentration, Vacuolated lymphocytes, Increased muscle lipi... |
ORPHA:565612 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Asthma, Chronic kidney disease, Imbalanced hemoglobin sy... |
ORPHA:330015 |
Vici Syndrome |
|
Lymphopenia, Elevated circulating creatine kinase concentration, Congestive heart failure, Dilate... |
OMIM:242840 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... |
ORPHA:49041 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hyperten... |
OMIM:615688 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu... |
ORPHA:363618 |
Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Cardiomegaly, Thrombocytopenia, Hepat... |
ORPHA:79330 |
3Q29 Microdeletion Syndrome |
|
Pulmonary arterial hypertension, Hypospadias, Horseshoe kidney, Subvalvular aortic stenosis |
ORPHA:65286 |
Nelson Syndrome |
|
Increased urinary cortisol level, Diabetes insipidus, Quadriceps muscle atrophy, Pituitary cortic... |
ORPHA:199244 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ... |
OMIM:619705 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Atrioventricular block, Mi... |
ORPHA:371428 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Autoimmune hypoparathyroidism, Dyspnea, Abnormal ... |
ORPHA:36913 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, 3-Methylglutaconic aciduria, Limb muscle ... |
OMIM:619259 |
Familial Atrial Fibrillation |
|
Atrial fibrillation, Myocardial infarction, Dyspnea, Syncope, Palpitations |
ORPHA:334 |
Congenital Left Ventricular Aneurysm |
|
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma... |
ORPHA:1055 |
Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abnormal... |
ORPHA:355 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Fingerpa... |
OMIM:600376 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... |
OMIM:100300 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Neonatal respiratory distress, ... |
OMIM:194080 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... |
OMIM:300952 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... |
ORPHA:402075 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Facial palsy, Camptodactyly of finger, Splenomegal... |
ORPHA:90340 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Giant platelets, Anemia, Camptodacty... |
OMIM:611209 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Pineal cy... |
OMIM:300967 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... |
OMIM:265120 |
Fg Syndrome Type 1 |
|
Progressive flexion contractures, Hypospadias, Mitral valve prolapse, Small pituitary gland, Atri... |
ORPHA:93932 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Hypertension, Enuresis, Hyperaldosteronism, Increased circulating r... |
OMIM:612780 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
Hsd10 Disease, Infantile Type |
|
Abnormal circulating enzyme concentration or activity, Cardiomegaly, Hyperammonemia, Hypertrophic... |
ORPHA:391428 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Decreased response to growth hormone stim... |
ORPHA:1855 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Abnormality of the thyroid gland, Ragged-red muscle fibers, Limb muscle weakne... |
OMIM:609286 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Aplasia of the thymus, Facial palsy, Hypothyroidism, Congenital hypothyroidism, Unconjugated hype... |
OMIM:620186 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Pituitary adenoma, Increased circulating ACTH level, Nephrolithiasis, Hy... |
OMIM:219090 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hyponatremia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoac... |
OMIM:617913 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Aortic valve ... |
ORPHA:56 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Renal hypoplasia/aplasia, Ab... |
ORPHA:52 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Anteri... |
ORPHA:466791 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Prim... |
OMIM:619534 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hypospadias, Penoscrotal transposition, Small thenar eminence, Pulmonic stenosis, Camptodactyly, ... |
OMIM:619148 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Respiratory distress, Hyperphosphaturia, Transient ischemic attack, Elev... |
ORPHA:51608 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia, Hypercapnia |
OMIM:601887 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... |
OMIM:618280 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Diabetes mellitus, Intrahepatic cholestasis, Hypertension, Elevate... |
ORPHA:69663 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Respiratory insufficiency, Hyperammonemia, Hypertension, 3-Methylglutaconic aciduria... |
OMIM:614052 |
Livedoid Vasculopathy |
|
Pancytopenia, Diabetes mellitus, Telangiectasia of the skin, Leukocytosis, Hyperhomocystinemia, H... |
ORPHA:542643 |
Tempi Syndrome |
|
Transudative pleural effusion, Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage... |
ORPHA:284227 |
Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ... |
ORPHA:221 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hepatomegaly, Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-... |
OMIM:226300 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... |
OMIM:614947 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Accessory spleen, Adrenal hypoplasia, Morgagni diaphragmatic... |
OMIM:613177 |
Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension |
OMIM:259420 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve |
OMIM:617168 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension, Renal cor... |
OMIM:613159 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Hypertriglyce... |
ORPHA:567548 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Limb hy... |
OMIM:619170 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Dark urine, Tachycardia, Jaundice, Elevated circulating alkaline p... |
ORPHA:521219 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Apnea, Leukocytosis, Abnormal heart morphology, Bradycardia, Hypotension, Ne... |
ORPHA:391673 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant di... |
OMIM:151660 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, High-out... |
OMIM:187300 |
15Q Overgrowth Syndrome |
|
Tricuspid regurgitation, Contracture of the proximal interphalangeal joint of the 2nd finger, Ure... |
ORPHA:314585 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Atria... |
ORPHA:464738 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Renal hypoplasia, Renal cyst, Microph... |
OMIM:618454 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ventricular septal defect, Renal cyst |
OMIM:614424 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Flexion contracture, Stridor, Camptodactyly, Pulmonary arterial hypertension |
OMIM:620029 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Recurrent pneumon... |
OMIM:613610 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Hypospadias, Double outlet right ventricle, Micropenis, Neutropenia, V... |
ORPHA:163956 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Hypothyroidism, Tubulointerstitial fibrosis, Hepatomegaly, Delayed puberty, Ane... |
ORPHA:79259 |
Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Apnea, Bradycardia |
OMIM:208155 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,... |
OMIM:619127 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Diabetes mellitus, Hyperthyroidism, Mitral valve prolapse, Hypertension, Hypothyroidism |
ORPHA:449291 |
Poliomyelitis |
|
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Hypoplasia of the mu... |
ORPHA:2912 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Mitral stenosis, Delayed mena... |
ORPHA:740 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Hurler Syndrome |
|
Hepatomegaly, Angina pectoris, Abnormal heart valve morphology, Camptodactyly of finger, Splenome... |
ORPHA:93473 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Hemolytic anemia, Pancytopenia, Pneumonia, Hematemesis, Pericardial effusion, Splen... |
OMIM:615846 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Respiratory f... |
ORPHA:158687 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorr... |
OMIM:617397 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Dyspnea, Tachypnea, Stage 5 chronic kidney disease, Hematuri... |
OMIM:243910 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Foot joint contracture, Protein... |
ORPHA:90321 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Glandular hypospadias,... |
OMIM:620306 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Diaphragmat... |
OMIM:619488 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, A... |
ORPHA:280365 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Diabetes mellitus, Anuria, Pneumonia, Myocarditis, Dyspnea, Leuko... |
ORPHA:544482 |
Hardikar Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Hepatomegal... |
OMIM:301068 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Apnea, Shoulder flexion contracture, Elevated circulati... |
ORPHA:800 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Progressive flexion contractures, Hypertension, Transient hyperphenylalaninemia, Hyp... |
ORPHA:98808 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension, Hypothyroidism |
OMIM:617763 |
Monosomy 18P |
|
Hypertension, Hypothyroidism |
ORPHA:1598 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... |
OMIM:617877 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Long penis, Adrenogenita... |
OMIM:202010 |
Autosomal Recessive Polycystic Kidney Disease |
|
Elevated gamma-glutamyltransferase level, Hyponatremia, Hypoventilation, Portal hypertension, Oli... |
ORPHA:731 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
Lymphatic Malformation 13 |
|
Mitral regurgitation, Atrial septal defect, Pulmonary arterial hypertension, Patent foramen ovale... |
OMIM:620244 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Chronic rhi... |
ORPHA:667 |
Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Nephrocalcinosis, Leukopenia, Tubul... |
ORPHA:797 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con... |
OMIM:618775 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Apnea, Airway obstruction, Premature ventricular contraction, Stridor,... |
OMIM:602535 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Dyspnea, Tendon xanthomatosis, Hype... |
ORPHA:391665 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Elevated hepatic transaminase, Facial palsy, Elevated circulating creatine kinase concentration, ... |
OMIM:610131 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypospadias, Co... |
ORPHA:444077 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Congenital ... |
ORPHA:226313 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Pericardial effusion, Splenomegaly, Dyspnea, Bronchiectasis, Hypercal... |
OMIM:181000 |
Werner Syndrome |
|
Skeletal muscle atrophy, Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Conge... |
ORPHA:902 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pulmonary embolism, Int... |
ORPHA:394 |
Gitelman Syndrome |
|
Respiratory distress, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Iron ... |
ORPHA:358 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Anemia,... |
OMIM:618838 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Ventricular hypertrophy, Congenital diaphragmatic hernia, Flexion contractu... |
OMIM:208050 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Camptodactyly of finger, Eosinophilia, Congestive heart failure, Reti... |
ORPHA:464 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Flexion contracture, Micropenis, Hypertroph... |
OMIM:616897 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Anuria, Megacystis, Pyelonephritis, Bidirecti... |
OMIM:619351 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Renal cyst, Atrial septal defect, Hepatomegaly, Neonatal respira... |
OMIM:312870 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congesti... |
ORPHA:3342 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Viral hepatitis, Abnormal circulating protein concentration, Membranoprolife... |
ORPHA:48435 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary vanillylmandel... |
ORPHA:653 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal circulating enzyme concentration or activity, Abnormal heart valve morphology, Abnormal ... |
ORPHA:217085 |
Abetalipoproteinemia |
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Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Decreased HDL cholesterol concentra... |
ORPHA:14 |
Sick Sinus Syndrome 4 |
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Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Hallermann-Streiff Syndrome |
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Recurrent pneumonia, Telangiectasia, Hypertension, Tracheomalacia, Pulmonary arterial hypertension |
OMIM:234100 |
Lujo Hemorrhagic Fever |
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Shock, Elevated hepatic transaminase, Respiratory distress, Renal insufficiency, Crackles, Elevat... |
ORPHA:319213 |
Xfe Progeroid Syndrome |
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Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Hypertension, Hypoalbuminemia |
OMIM:610965 |
Brugada Syndrome 6 |
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ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Developmental And Epileptic Encephalopathy 101 |
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Third degree atrioventricular block, Apnea, Limb joint contracture, Bradycardia |
OMIM:619814 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Hepatomegaly, Diaphragmatic eventration, Neonatal respiratory distress, Ventricular septal defect... |
OMIM:620025 |
Primary Progressive Freezing Gait |
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Hypertension, Urinary incontinence |
ORPHA:75567 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Prolonged QT interval, Tachycardia, Streak ovary, Bicuspid aortic valve, Hypospadias, Abnormality... |
ORPHA:1772 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Abnormal circulating enzyme concentration or activity, Abnormal heart valve morphology, Abnormal ... |
ORPHA:217093 |
Lipodystrophy, Familial Partial, Type 7 |
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Orthostatic hypotension, Hypertriglyceridemia, Spontaneous pneumothorax, Hypercholesterolemia, Po... |
OMIM:606721 |
Generalized Glucocorticoid Resistance Syndrome |
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Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Tatton-Brown-Rahman Syndrome |
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Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Tangier Disease |
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Hypertriglyceridemia, Thrombocytopenia, Hepatosplenomegaly, Facial diplegia, Hypocholesterolemia,... |
ORPHA:31150 |
Proximal Spinal Muscular Atrophy |
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Skeletal muscle atrophy, Neonatal respiratory distress, Multiple joint contractures, Hypoventilat... |
ORPHA:70 |
Galloway-Mowat Syndrome 3 |
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Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic... |
OMIM:617729 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Splenomegaly, Aortic ... |
ORPHA:2072 |
Carey-Fineman-Ziter Syndrome |
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Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Glandular hypospad... |
ORPHA:1358 |
Tuberous Sclerosis Complex |
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Respiratory distress, Renal insufficiency, Abnormality of the kidney, Pancreatic endocrine tumor,... |
ORPHA:805 |
Lymphoid Interstitial Pneumonia |
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Hepatomegaly, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Bronchiectasis, Hypoxemia, Restric... |
ORPHA:79128 |
Familial Multiple Nevi Flammei |
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Intracranial hemorrhage, Arrhythmia, Pulmonary embolism |
ORPHA:624 |
Spastic Paraplegia Type 2 |
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Spastic/hyperactive bladder, Pulmonary embolism |
ORPHA:99015 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Ketonuria, Bicuspid aortic valve, Mitral atresia, Hypospadias, Tachypnea, Aortic valve atresia, H... |
OMIM:220111 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Goiter, Elevated circulat... |
ORPHA:90673 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... |
OMIM:245600 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
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Cardiomegaly |
OMIM:613576 |
Von Hippel-Lindau Syndrome |
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Hypertension, Renal cell carcinoma, Pheochromocytoma, Multiple renal cysts, Paraganglioma, Polycy... |
OMIM:193300 |
Stuve-Wiedemann Syndrome 1 |
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Apnea, Elbow flexion contracture, Respiratory insufficiency, Contracture of the proximal interpha... |
OMIM:601559 |
Atrial Tachyarrhythmia With Short Pr Interval |
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Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Hypospadias, Cardiomegaly, Renovascular hypertension, Hypertension, Ca... |
ORPHA:3472 |
Systemic Lupus Erythematosus |
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Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertensi... |
ORPHA:536 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Cardiomyopathy, Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardi... |
OMIM:105210 |
17Q11 Microdeletion Syndrome |
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Telangiectasia of the skin, Rhabdomyosarcoma, Precocious puberty, Renovascular hypertension, Abno... |
ORPHA:97685 |
Wagro Syndrome |
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Hypertension, Nephroblastoma, Proteinuria |
OMIM:612469 |
Pseudohypoparathyroidism Type 1A |
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Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:79443 |
Alpha-N-Acetylgalactosaminidase Deficiency |
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Recurrent pneumonia, Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Tricuspi... |
OMIM:143095 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
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Pulmonary embolism |
ORPHA:745 |
Tetrasomy 9P |
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Renal dysplasia, Pericarditis, Myositis, Recurrent urinary tract infections, Dextrocardia, Raynau... |
ORPHA:3310 |
Thyrotoxic Periodic Paralysis |
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Decreased urinary potassium, Thyrotoxicosis with diffuse goiter, Impaired myocardial contractilit... |
ORPHA:79102 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Fragile X-Associated Tremor/Ataxia Syndrome |
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Pollakisuria, Hypertension, Hypotension, Urinary bladder sphincter dysfunction, Hypothyroidism |
ORPHA:93256 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
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Hypertension, Scapular winging, Mitral valve prolapse |
OMIM:616914 |
Myhre Syndrome |
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Abnormal penis morphology, Hypospadias, Precocious puberty, Epispadias, Skeletal muscle hypertrop... |
ORPHA:2588 |
Alexander Disease |
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Diabetes mellitus, Facial palsy, Sudden cardiac death, Precocious puberty, Respiratory insufficie... |
ORPHA:58 |
Steinert Myotonic Dystrophy |
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Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ... |
ORPHA:273 |
Encephalocraniocutaneous Lipomatosis |
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Pulmonary arterial hypertension, Aortic valve stenosis, Tricuspid valve prolapse |
ORPHA:2396 |
Multiple Endocrine Neoplasia Type 1 |
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Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Idiopathic Hypereosinophilic Syndrome |
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Respiratory distress, Skeletal muscle atrophy, Pulmonary embolism, Intracranial hemorrhage, Cough... |
ORPHA:3260 |
Xq21 Microdeletion Syndrome |
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Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Melnick-Needles Syndrome |
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Ureteral stenosis, Mitral valve prolapse, Tricuspid valve prolapse, Pulmonary arterial hypertensi... |
OMIM:309350 |
Blau Syndrome |
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Pericarditis, Camptodactyly of finger, Tendonitis, Hypertension, Flexion contracture of toe |
OMIM:186580 |
Alström Syndrome |
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Respiratory distress, Decreased response to growth hormone stimulation test, Urinary incontinence... |
ORPHA:64 |
Hunter-Macdonald Syndrome |
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Aortic regurgitation, Bicuspid aortic valve, Hypospadias, Mitral valve prolapse, Hypertension, Mi... |
OMIM:611962 |
Trichorhinophalangeal Syndrome, Type Ii |
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Scapular winging, Bicuspid aortic valve, Myocardial infarction, Partial anomalous pulmonary venou... |
OMIM:150230 |
Fontaine Progeroid Syndrome |
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Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Hypoplasia of the abdominal... |
OMIM:612289 |
Viss Syndrome |
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Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement, Patent foramen ovale,... |
OMIM:619472 |
Brugada Syndrome 5 |
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ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Cardiomegaly, Adrenocortical carcinoma,... |
OMIM:130650 |
Cushing Disease |
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Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Bradycardia, Partial development of the p... |
OMIM:608800 |
Erythrocytosis, Familial, 8 |
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Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Yellow Fever |
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Shock, Renal insufficiency, Neutrophilia, Anuria, Elevated circulating aspartate aminotransferase... |
ORPHA:99829 |
Heterotaxy, Visceral, 1, X-Linked |
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Respiratory distress, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial s... |
OMIM:306955 |
Scalp-Ear-Nipple Syndrome |
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Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Liver Disease, Severe Congenital |
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Cardiomegaly, Abnormal left ventricular function, Leukopenia, Aminoaciduria, Lymphocytosis, Hypoc... |
OMIM:619991 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
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Pulmonary embolism |
ORPHA:743 |
Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia, A... |
ORPHA:40366 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
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Hypoxemia, Pulmonary arterial hypertension, Micropenis, Hypospadias |
ORPHA:2282 |
Mucopolysaccharidosis Type 2 |
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Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... |
ORPHA:580 |
Plague |
|
Respiratory distress, Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Endocarditis, Acute i... |
ORPHA:707 |
Aneurysm-Osteoarthritis Syndrome |
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Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Abnormal heart morphology, Mi... |
ORPHA:284984 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Retinal hemorrhage, Stage 5 ch... |
OMIM:609049 |
Ctcf-Related Neurodevelopmental Disorder |
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Phimosis, Mitral regurgitation, Joint contracture of the 5th finger, Prolonged neonatal jaundice,... |
ORPHA:363611 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Increased iduronate sulfatase level, Diastasis recti, Increas... |
OMIM:252500 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... |
ORPHA:739 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:256040 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Congestive heart failure, Renal h... |
OMIM:181270 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:611783 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
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Respiratory distress, Hypertension |
ORPHA:1555 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:617907 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Mitral valve calcification, Calcium nephrolithiasis, Right ventricular failure, Inc... |
ORPHA:60025 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Ab... |
ORPHA:2463 |
Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating ... |
ORPHA:91355 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Neonatal hyperbilirubinemia, Pituitary hypothyroidis... |
ORPHA:90674 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Subara... |
ORPHA:139417 |
Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Pulmonary embolism, Jaundice, Hyperlipidemia, Hepatosple... |
ORPHA:444490 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Fasting hyperinsulinemia, Renal neoplasm, Abnormal circulating leptin co... |
ORPHA:79474 |
Distal Deletion 12Q |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Ectopic kidney, Pituitary adenoma, Elbow... |
ORPHA:96149 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... |
ORPHA:963 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r... |
ORPHA:96334 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Hepatomegaly, Renal hypopl... |
ORPHA:191 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Hepatosplenomegal... |
OMIM:266920 |
Cockayne Syndrome A |
|
Hip contracture, Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Micropenis, Hypert... |
OMIM:216400 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosp... |
OMIM:608013 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... |
ORPHA:2929 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Diabetes mellitus, Cardiome... |
ORPHA:51 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphr... |
OMIM:309801 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... |
ORPHA:314769 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Mucopolysacchariduria, Hypothyroidism |
ORPHA:349 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Apnea, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contractur... |
ORPHA:97297 |
Cog1-Cdg |
|
Pulmonary arterial hypertension, Atrial septal dilatation, Hepatosplenomegaly |
ORPHA:263508 |
Congenital Disorder Of Glycosylation, Type Im |
|
Aspiration, Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level |
OMIM:610768 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:613355 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hypertension, Hypospadias |
OMIM:123790 |
Apert Syndrome |
|
Hypertension, Respiratory insufficiency |
ORPHA:87 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... |
ORPHA:99889 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M... |
ORPHA:904 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Generalized muscle hypertrophy, Respiratory insu... |
OMIM:139210 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, V... |
OMIM:194050 |
Keutel Syndrome |
|
Sinusitis, Ventricular septal defect, Hypertension, Pulmonic stenosis, Emphysema, Chronic sinusit... |
OMIM:245150 |
Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Pne... |
OMIM:613795 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Flexion contracture... |
ORPHA:581 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Vesicoureter... |
ORPHA:116 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... |
OMIM:218700 |
Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Micropenis, Hypertension, Arrhythmia |
OMIM:133540 |
Smith-Lemli-Opitz Syndrome |
|
Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Atrial septal defect, Micropenis, Penoscrotal h... |
OMIM:270400 |
Familial Osteodysplasia, Anderson Type |
|
Hypertension, Hyperuricemia |
ORPHA:2769 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myositis, Glomerulopathy, Renal ... |
ORPHA:117 |
Neurofibromatosis, Type I |
|
Rhabdomyosarcoma, Hypertension, Pheochromocytoma, Renal artery stenosis, Parathyroid adenoma |
OMIM:162200 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly |
OMIM:618798 |
Orofaciodigital Syndrome I |
|
Hypertension, Proteinuria, Polycystic kidney dysplasia, Abnormal heart morphology |
OMIM:311200 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Vesicoureteral reflux, Hydr... |
OMIM:616580 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Ureteropelvic junction obstruction, Hypertension, Atrial septal defect, Vesicovaginal fistula, Ne... |
OMIM:300896 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Hypoplasia ... |
OMIM:617022 |
49,Xxxxy Syndrome |
|
Hypoplasia of penis, Pulmonary embolism, Renal hypoplasia/aplasia, Asthma, Hypogonadism, Type II ... |
ORPHA:96264 |
48,Xxxy Syndrome |
|
Hypoplasia of penis, Pulmonary embolism, Asthma, Hypogonadism, Type II diabetes mellitus, Renal d... |
ORPHA:96263 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hy... |
ORPHA:2750 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... |
OMIM:201750 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se... |
OMIM:210710 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Hypocalcemia, Vesicoureteral reflux, Atrial septal defect, Hypothyroidi... |
ORPHA:567 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Urethral stricture, Abnormal blood ion concentration, Renal cyst, Aplasia/H... |
ORPHA:79404 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Elevated hepatic transaminase, Bicuspid aortic valve, Myocardial infarctio... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Elevated hepatic transaminase, Bicuspid aortic valve, Myocardial infarctio... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Elevated hepatic transaminase, Bicuspid aortic valve, Myocardial infarctio... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Elevated hepatic transaminase, Bicuspid aortic valve, Myocardial infarctio... |
ORPHA:881 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Low alkaline phosphatase, Macroglossia, ... |
OMIM:618143 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Vacuolated lymphocytes, Glycopepti... |
OMIM:230000 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy |
ORPHA:294023 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ... |
ORPHA:1359 |
Legius Syndrome |
|
Acute monocytic leukemia, Paroxysmal atrial tachycardia, Nephrolithiasis, Mitral valve prolapse, ... |
ORPHA:137605 |
Neurofibromatosis Type 1 |
|
Abnormality of the upper urinary tract, Abnormality of the endocrine system, Precocious puberty, ... |
ORPHA:636 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Jaundice, Hypopnea, Respiratory failure, 3-Methylglutaric aciduria, 3-Methylglutaconic aci... |
OMIM:617248 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Heart murmur, Cardiomyopathy, Aspiration pneumonia, Pulmo... |
OMIM:216340 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, P... |
OMIM:182250 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal respiratory distress, Neonatal insulin-dependent diabetes mellitus, Ventri... |
ORPHA:96191 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agen... |
OMIM:308205 |
Vascular Ehlers-Danlos Syndrome |
|
Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morphology, Hypospadi... |
ORPHA:286 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Pulmonary embolism |
ORPHA:3205 |
Proteus Syndrome |
|
Decreased muscle mass, Thymus hyperplasia, Sudden cardiac death, Pulmonary embolism, Enlarged pol... |
ORPHA:744 |