Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Elevated circulating alanine aminotransferase concentration, Microvesicular... |
OMIM:610198 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Conge... |
OMIM:613694 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... |
OMIM:181350 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... |
OMIM:611705 |
Atrial Standstill 1 |
|
Endocardial fibroelastosis, Atrial standstill, Premature atrial contractions, Atrial cardiomyopat... |
OMIM:108770 |
Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Sudden cardiac death, Knee flexion contracture, Elbow flexion contracture, Achilles tendon contra... |
OMIM:310300 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... |
OMIM:618052 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,... |
ORPHA:99106 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea... |
OMIM:613697 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Atrioventricular dissociation, Atrioventricular ... |
OMIM:614954 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... |
OMIM:601494 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... |
OMIM:601493 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Cardiomyopathy, Type 1 muscle fiber predominance, Nemaline bodies, Waddling gait, Scapular wingin... |
OMIM:617336 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Muscular dystrophy, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Attrv30M Amyloidosis |
|
Weight loss, Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Desminopathy |
|
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... |
ORPHA:98909 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Weakness of long finger extensor muscles, Limb-girdle muscle weakness, Wrist drop, Gait disturban... |
ORPHA:98912 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, EMG: myo... |
OMIM:601419 |
Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Increased QRS voltage, Elbow flexion contracture, Left ventricular hype... |
OMIM:619040 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, T-wave al... |
OMIM:618782 |
Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Leth... |
ORPHA:1329 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
Nathalie Syndrome |
|
Skeletal muscle atrophy, Growth delay, Abnormal EKG |
OMIM:255990 |
Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... |
OMIM:300257 |
Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Generalized amyotrophy, Elevated hepatic transaminase, Pallor, Failure to thrive, Hypertrophic ca... |
OMIM:613561 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... |
OMIM:600858 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... |
OMIM:615373 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Decreased cervical ... |
ORPHA:98855 |
Timothy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Prolonged QT interval,... |
OMIM:601005 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Cirrhosis, Left ventricular diastolic dysfunction, Third hear... |
ORPHA:57777 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... |
ORPHA:542306 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... |
OMIM:615396 |
Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... |
ORPHA:439 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Small for gestational age, Pericardial effusion,... |
ORPHA:26793 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Elevated hepatic transamina... |
OMIM:212138 |
Neonatal Lupus Erythematosus |
|
Hepatic failure, Abnormality of the liver, Elevated hepatic transaminase, Dilated cardiomyopathy,... |
ORPHA:398124 |
Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio... |
ORPHA:98853 |
Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
Cardiomyopathy, Dilated, 2D |
|
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio... |
ORPHA:98863 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Ventricular septal defect, Short stature, Cardiac arrest, Congesti... |
ORPHA:49827 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Lower limb muscle weakness, Generalized amyotrophy, Abnormal EKG, Progressive gait ataxia, Lower ... |
ORPHA:1177 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Pallor, Myocardial infarction, Abnormality of venous physiology, Li... |
ORPHA:90064 |
Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... |
OMIM:113900 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Syncope, Large for gestational age, Diffuse pancreatic islet hyperplasia, Pallor, Hypertrophic ca... |
ORPHA:276556 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... |
ORPHA:75566 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Skeletal muscle atrophy, Ataxia, Ragged-red muscle fibers |
ORPHA:480 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Syncope, Large for gestational age, Diffuse pancreatic islet hyperplasia, Pallor, Hypertrophic ca... |
ORPHA:276575 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal EK... |
ORPHA:85451 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Right bundle branch block, Limb-girdle muscle weakness, Centrally nucleated... |
OMIM:255160 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Syncope, Large for gestational age, Diffuse pancreatic islet hyperplasia, Pallor, Hypertrophic ca... |
ORPHA:276580 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Corona... |
ORPHA:75565 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Coronary Arterial Fistula |
|
Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ... |
ORPHA:2041 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Ventricular ... |
ORPHA:860 |
Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Diaphragmatic eventration, Generalized amyotrophy, Elevated hep... |
ORPHA:66634 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval |
OMIM:220400 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... |
OMIM:611777 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
OMIM:616812 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic necrosis, Elevated hepatic transaminase,... |
ORPHA:71212 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Muscular dystrophy, Joint contracture, Generalized limb muscle atrophy, Prolonged QT interval, Hy... |
OMIM:615351 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Small for gestational age, Hypertrophic cardiomyopathy, Ataxia, Left ventricular noncompaction |
OMIM:615917 |
Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... |
OMIM:611819 |
Cyclic Vomiting Syndrome |
|
Ataxia, Pallor, Growth delay, Lethargy, Cardiomyopathy |
OMIM:500007 |
Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
ORPHA:392 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr... |
ORPHA:216694 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Truncal ataxia, Failure to thrive, Growth delay, Atrioventricular block, Joint contracture of the... |
OMIM:614407 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
Muscular Dystrophy, Duchenne Type |
|
Knee flexion contracture, Flexion contracture, Tip-toe gait, Abnormal EKG, Calf muscle hypertroph... |
OMIM:310200 |
Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Short stature, Ventricu... |
ORPHA:37553 |
Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... |
OMIM:613980 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Right ventricular dilatation, Left ... |
OMIM:615616 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Weight loss, Abnormal EKG, Congestive heart... |
ORPHA:330001 |
Long Qt Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Wolff-Parkins... |
ORPHA:137675 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... |
ORPHA:563 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Short stature, Abnormal mitochondria in muscle tissue, Truncal ataxia, Dilat... |
OMIM:252011 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Right bundle branch block, Decreased muscle mass, T-wave inversion, Vent... |
ORPHA:263297 |
Long Qt Syndrome 14 |
|
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... |
OMIM:616247 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depression, Congesti... |
ORPHA:90065 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Patent ductus arteriosus, Decreased body weight, Abnormal cardiac septum morphology, Bundle branc... |
ORPHA:589821 |
Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Intracranial hemorrhage, Hypertension, Epistaxis, Prolonged QT inte... |
ORPHA:251274 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Large for... |
ORPHA:45452 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Cardiomegaly, Tip-toe gait, Reduced left ventricular ejection fraction... |
ORPHA:268 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Failure to thrive, Hypertrophic cardiomyopathy, Intrauterine growth ret... |
OMIM:615440 |
Long Qt Syndrome 6 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... |
OMIM:613693 |
Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss |
|
Failure to thrive, Muscular ventricular septal defect, Inability to walk |
OMIM:620071 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... |
OMIM:612422 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Short stature, Ataxia, Arrhythmia, Ragged-red muscle fibers,... |
OMIM:530000 |
Atrial Fibrillation, Familial, 3 |
|
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... |
OMIM:607554 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular outflow tract obstruction, Elevated circulating alanine aminotransferase concent... |
ORPHA:308552 |
Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... |
ORPHA:99103 |
Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Skeletal myopathy, Weight loss, Left ventricular hypertrophy, Noncompac... |
ORPHA:3208 |
Long Qt Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... |
OMIM:192500 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Left ventricula... |
OMIM:615474 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation |
OMIM:615378 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Limb-girdle muscular dystrophy, Inability to walk, Calf muscle hypertr... |
ORPHA:206559 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Type 1 muscle fi... |
OMIM:613507 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia |
ORPHA:1479 |
Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Cardiomyopathy, Gait imbalance, Weakness of facial musculature, Loss of ambulation, Skeletal musc... |
ORPHA:329336 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... |
OMIM:609040 |
Rett Syndrome |
|
Abnormal T-wave, Gait ataxia, Gait apraxia, Short stature, Truncal ataxia, Cachexia, Skeletal mus... |
OMIM:312750 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Increased variability in muscle fiber diameter, Splenomegaly, Flexion contracture, Centrally nucl... |
OMIM:613327 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... |
OMIM:615441 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Brugada Syndrome 9 |
|
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation |
OMIM:616399 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Inability to walk, Truncal atax... |
OMIM:620066 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect, Left-to-right shunt, Camptoda... |
ORPHA:363444 |
Al Amyloidosis |
|
Abnormality of the liver, Weight loss, Abnormal EKG, Reduced left ventricular ejection fraction, ... |
ORPHA:85443 |
Gitelman Syndrome |
|
Abnormal T-wave, Rhabdomyolysis, Pericardial effusion, Prominent U wave, Raynaud phenomenon, Low-... |
ORPHA:358 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Gait ataxia, Torsade de pointes, Rhabdomyolysis, Cardiac arrest, Gait disturbance, Elevated hepat... |
OMIM:616878 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Prolonged QTc interval, Petechiae, Pericardial effusion |
ORPHA:231111 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
Congenital Aortic Valve Stenosis |
|
Sudden cardiac death, Abnormal T-wave, Aortic valve atresia, Increased QRS voltage, Endocarditis,... |
ORPHA:3093 |
Rheumatic Fever |
|
Endocarditis, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal mitral valve morphol... |
ORPHA:3099 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal left ventricle morphology, Congestive heart failure, Arrhythmia, Abnorm... |
ORPHA:1055 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Ventricular septal defect, Hypertension... |
ORPHA:369929 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Reduced left ventricular ejection fraction, Left ventricular noncompact... |
OMIM:616501 |
Sandestig-Stefanova Syndrome |
|
Perimembranous ventricular septal defect, Small for gestational age, Camptodactyly, Muscular vent... |
OMIM:618804 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Polymyositis |
|
Abnormal atrioventricular conduction, Weight loss, Abnormal mitral valve morphology, Abnormal mus... |
ORPHA:732 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
Friedreich Ataxia |
|
Gait ataxia, Abnormal EKG, Decreased pyruvate carboxylase activity, Limb ataxia, Congestive heart... |
OMIM:229300 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Decreased body weight, Pulmonic stenosis, Bicuspid aortic valve, Failure to thrive, Ventricular e... |
OMIM:616201 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Premature ventricular contraction, Bacterial endocarditis, Short stature, Heart block |
ORPHA:1964 |
American Trypanosomiasis |
|
Congestive heart failure, Pallor, Hepatomegaly, Arrhythmia, Myocarditis, Splenomegaly, Cardiomyop... |
ORPHA:3386 |
Beta-Thalassemia |
|
Hepatitis, Skin ulcer, Pallor, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Splenom... |
ORPHA:848 |
Idiopathic Pulmonary Hemosiderosis |
|
Heart murmur, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Pallor, Failure to thrive, Hepatom... |
ORPHA:99931 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Syncope, Large for gestational age, Pallor, Palpitations, Hepatomegaly... |
ORPHA:324575 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... |
OMIM:618654 |
Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... |
ORPHA:1686 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
Atrioventricular septal defect 3 |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Inlet ventricular septal defect, ... |
OMIM:600309 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect, Short stature |
OMIM:620062 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Knee flexion contracture, Forearm supination contracture, Scapuloperoneal myopathy, Right bundle ... |
OMIM:300695 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... |
OMIM:619167 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... |
ORPHA:371428 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Heart Block, Congenital |
|
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... |
OMIM:234700 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Muscle fiber splitting, Abnormal cardiac septum morphology, Abnormal left ventricular function, S... |
ORPHA:437572 |
Steinert Myotonic Dystrophy |
|
Inability to walk, Elevated hepatic transaminase, Facial diplegia, Distal amyotrophy, Falls, Prol... |
ORPHA:273 |
Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
Congenital Sialidosis Type 2 |
|
Telangiectasia, Petechiae, Abnormal EKG, Ataxia, Hepatosplenomegaly, Dysmetria, Abnormal heart mo... |
ORPHA:93400 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Failure to thrive, Tetralogy of Fallot,... |
OMIM:601127 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom... |
OMIM:616276 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Pallor, Pericarditis, Hepatomegaly, Splenomegaly |
ORPHA:163596 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Abnormal EKG, Elevated hepatic transaminase, Ataxia, EMG: myopathic abnormalities, Prolonged QT i... |
ORPHA:480864 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Lethargy, Gait disturbance, Pallor |
ORPHA:79283 |
Cln3 Disease |
|
Shuffling gait, T-wave inversion, Left ventricular hypertrophy, Ataxia, Loss of ambulation, Brady... |
ORPHA:228346 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Glycogen Storage Disease Ii |
|
Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Firm muscles, Macrogloss... |
OMIM:232300 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Arrhythmia, Decreased liver fu... |
OMIM:617021 |
Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Pancreatic islet-cell hyperplasia, Lethargy, Tachycardia, Increased body weight |
ORPHA:276608 |
Gitelman Syndrome |
|
Hypotension, Rhabdomyolysis, Ataxia, Failure to thrive, Prolonged QT interval, Ventricular tachyc... |
OMIM:263800 |
Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... |
OMIM:603830 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Small for gestational age, Bicuspid ao... |
OMIM:613355 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Myotonic Dystrophy 1 |
|
Facial diplegia, Atrial flutter, First degree atrioventricular block, Cholelithiasis, Atrial fibr... |
OMIM:160900 |
Microcephaly-Cardiomyopathy Syndrome |
|
Intrauterine growth retardation, Dilated cardiomyopathy, Short stature, Ventricular septal defect |
ORPHA:2515 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, Pericardial effusion, ST segment depression, Congestive heart fail... |
OMIM:261740 |
Fabry Disease |
|
Mucosal telangiectasiae, Short stature, Transient ischemic attack, Bundle branch block, Telangiec... |
ORPHA:324 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Thyrotoxic Periodic Paralysis |
|
Impaired myocardial contractility, Rhabdomyolysis, Weight loss, Lower limb muscle weakness, Abnor... |
ORPHA:79102 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Ventricular septal defect, Short stature, Torticollis, Atrial septal de... |
OMIM:249670 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Hypersplenism, Jaundice, Skin ulcer, Hepatocellular carcinoma, Hypop... |
ORPHA:231226 |
Dextrocardia |
|
Pancreatic hypoplasia, Abnormal EKG, T-wave inversion, Abnormality of abdominal situs, Situs inve... |
ORPHA:1666 |
Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Patent ductus arter... |
ORPHA:980 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... |
ORPHA:3092 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Myopathic Ehlers-Danlos Syndrome |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,... |
ORPHA:536516 |
Immunodeficiency 87 And Autoimmunity |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Elevated circulating alanine amin... |
OMIM:619573 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Small for gestational age, Left ventricular hypertrophy, Hypertension, Intra... |
OMIM:616733 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Muscular ventricular septal defect, Atrial septal defect |
OMIM:618354 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Postnatal growth retardation, Supraventricular arrhythmia, Syncope... |
ORPHA:75249 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul... |
OMIM:115195 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Jaundice, Skin ulcer, Ataxia, Pallor, Growth delay, Hepatomegaly, Cho... |
ORPHA:822 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short stature, Prominent U wave, Syncope, Prolonged QT interval, Palpitations, Scapular winging, ... |
OMIM:170390 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Short stature, Wolff-Parkinson-White syndrome, Hypertension, Ventricul... |
OMIM:614947 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Short stature, Limb hypertonia, Pericardial effusion, Atrial septal defect, Multiple muscular ven... |
OMIM:620070 |
Cog7-Cdg |
|
Small for gestational age, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Failure t... |
ORPHA:79333 |
Cardiac Valvular Dysplasia 1 |
|
Patent foramen ovale, Ventricular septal defect, Valvular pulmonary stenosis, Mitral stenosis, Mi... |
OMIM:212093 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Cirrhosis, Hypersplenism, Jaundice, Skin ulcer, Hepatocellular carcinoma, Hypop... |
ORPHA:231214 |
Atrial Standstill 2 |
|
Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr... |
OMIM:615745 |
Spontaneous Periodic Hypothermia |
|
Pallor, Gait disturbance, Ataxia, Arrhythmia |
ORPHA:29822 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Rhizomelic arm shortening, Disproportionate short stature, Atrioventricular block, Arrhythmia, My... |
ORPHA:93317 |
Sotos Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Muscular ventricular s... |
OMIM:117550 |
Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:618719 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Calcinosis |
ORPHA:94090 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Myxomatous mitral valve ... |
OMIM:614980 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular outflow tract obstruction, Flexion contracture, Inability to walk, Hypertrophic ... |
ORPHA:365 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Cocaine Intoxication |
|
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Rhabdomyolysis, Ventricular arrhy... |
ORPHA:90068 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia |
ORPHA:871 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Short stature, Gait disturbance, Failure to thrive, Prolonged QT interval, Broad-based gait |
OMIM:300352 |
Alg12-Cdg |
|
Patent ductus arteriosus, Patent foramen ovale, Camptodactyly, Elevated hepatic transaminase, Abn... |
ORPHA:79324 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia, Pallor |
ORPHA:71518 |
Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal T-wave, Hepatic failure, Rhabdomyolysis, Sinus tachycardia, Abnormal pulse ... |
ORPHA:466650 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Weight loss, Cardiac arrest, Jaundice, Elevated hepatic transaminase, Dilated cardio... |
ORPHA:20 |
Meier-Gorlin Syndrome 7 |
|
Decreased body weight, Ventricular septal defect, Short stature, Atrial septal defect, Heart bloc... |
OMIM:617063 |
Refsum Disease |
|
Ataxia, Heart block, Dry skin, Skeletal muscle atrophy, Splenomegaly, Cardiomyopathy |
ORPHA:773 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pulmonary arterial hypertension, Flexion contracture, Camptodactyly, Prolonged QT interval, Postn... |
OMIM:620029 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Autoimmune Hypoparathyroidism |
|
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval |
ORPHA:36913 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Weight loss, Cere... |
ORPHA:94080 |
Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... |
OMIM:614049 |
Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Ethylene Glycol Poisoning |
|
Hypotension, Renal tubular epithelial necrosis, Hypertension, Congestive heart failure, Ataxia, S... |
ORPHA:31826 |
Lyme Disease |
|
Atrioventricular block, Arrhythmia |
ORPHA:91546 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Atrial septal defect, Ataxia, Situs inversus totalis, A... |
OMIM:249270 |
17Q24.2 Microdeletion Syndrome |
|
Patent ductus arteriosus after birth at term, Prolonged QT interval, Truncal obesity, Failure to ... |
ORPHA:529962 |
Leopard Syndrome 1 |
|
Subvalvular aortic stenosis, Third degree atrioventricular block, Short stature, Bundle branch bl... |
OMIM:151100 |
Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
Evans Syndrome |
|
Petechiae, Jaundice, Syncope, Pallor, Epistaxis, Lethargy |
ORPHA:1959 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Large for gestational age, Pallor, Elevated circulating alkaline p... |
ORPHA:263455 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Hypoplastic left heart, Aortic valve st... |
OMIM:615779 |
Congenital Gerbode Defect |
|
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa... |
ORPHA:99095 |
Mucopolysaccharidosis Type 3 |
|
Flexion contracture, Reduced left ventricular ejection fraction, Abnormal mitral valve morphology... |
ORPHA:581 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:46532 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
Primary Lateral Sclerosis, Juvenile |
|
Loss of ambulation, Spasticity of facial muscles, Spastic gait, Pallor |
OMIM:606353 |
Noonan Syndrome 8 |
|
Patent ductus arteriosus, Palmoplantar cutis laxa, Ventricular septal defect, Short stature, Left... |
OMIM:615355 |
Feingold Syndrome Type 1 |
|
Patent ductus arteriosus, Short stature, Abnormal heart morphology, Multiple muscular ventricular... |
ORPHA:391641 |
Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Imperforate tricuspid valve, Patent ductus arteriosus, Right bundle branch ... |
ORPHA:1880 |
Atrophoderma Vermiculata |
|
Erythema, Heart block |
ORPHA:79100 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal... |
ORPHA:373 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Axial muscle atrophy, Limb-girdle muscle weakness, Right bundle branch block, Calf muscle hypertr... |
ORPHA:254361 |
Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Choreoathetosis, Ataxia, Pallor, Failure to thrive, Facial hypotonia, Cardiac co... |
ORPHA:2131 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect, Short stature |
OMIM:619227 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Short stature, Calcinosis |
ORPHA:94089 |
Fanconi Anemia, Complementation Group I |
|
Patent foramen ovale, Decreased body weight, Ventricular septal defect, Short stature, Atrial sep... |
OMIM:609053 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber... |
OMIM:619424 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Short stature, Atrial septal defect, Failure to thrive, Hypertrophic c... |
OMIM:615279 |
Dpagt1-Cdg |
|
Flexion contracture, Akinesia, Inability to walk, Camptodactyly, Intracranial hemorrhage, Ataxia,... |
ORPHA:86309 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Knee flexion contracture, Patent foramen ovale, Flexion contracture, Hip contracture, Ventricular... |
OMIM:210710 |
Roifman Syndrome |
|
Splenomegaly, Hip contracture, Ventricular septal defect, Short stature, Noncompaction cardiomyop... |
OMIM:616651 |
Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... |
OMIM:611875 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Right bundle branch block, Skeletal muscle hypertrophy |
OMIM:613158 |
Scimitar Syndrome |
|
Pulmonary arterial hypertension, Double outlet right ventricle, Mitral atresia, Patent ductus art... |
ORPHA:185 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Short stature, Mitral regurgitation, Aortic valve stenosis, Pulmonic s... |
ORPHA:3449 |
Short Qt Syndrome 1 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... |
OMIM:609620 |
Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... |
ORPHA:97292 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Increased variability in muscle fiber diameter |
OMIM:614096 |
Friedreich Ataxia 2 |
|
Concentric hypertrophic cardiomyopathy, Abnormal EKG, Decreased pyruvate carboxylase activity, Co... |
OMIM:601992 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Short stature, Bicuspid aortic valve, Elevated he... |
ORPHA:99413 |
Turner Syndrome |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Short stature, Bicuspid aortic valve, Elevated he... |
ORPHA:881 |
Mosaic Monosomy X |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Short stature, Bicuspid aortic valve, Elevated he... |
ORPHA:99228 |
Monosomy X |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Short stature, Bicuspid aortic valve, Elevated he... |
ORPHA:99226 |
Optic Atrophy 1 |
|
Ataxia, Pallor |
OMIM:165500 |
Cardiospondylocarpofacial Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Short stature, Atrial septal defect, Failure to ... |
OMIM:157800 |
Primary Myelofibrosis |
|
Petechiae, Cachexia, Purpura, Hepatosplenomegaly, Pallor, Ecchymosis, Hepatomegaly, Increased cir... |
ORPHA:824 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Short stature, Bicuspid aortic valve, Prolonged QT interval, Delayed puberty, Obesity, Tachycardi... |
ORPHA:1772 |
Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Short stature, Inability to walk, Truncal ataxia,... |
OMIM:617675 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Obesity, Short stature, Calcinosis |
ORPHA:79444 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Myopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... |
OMIM:620135 |
Ogden Syndrome |
|
Ventricular septal defect, Shuffling gait, Cutis laxa, Cardiogenic shock, Torticollis, Arrhythmia... |
ORPHA:276432 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Generalized limb muscle atrophy, Pallor, Failure to thrive, Delayed puberty, Growth delay, Scapul... |
OMIM:600462 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Transient ischem... |
ORPHA:99104 |
Diamond-Blackfan Anemia 6 |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolap... |
OMIM:612561 |
Idiopathic Hypereosinophilic Syndrome |
|
Pulmonary embolism, Pancreatitis, Transient ischemic attack, Supraventricular arrhythmia, Raynaud... |
ORPHA:3260 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Reduced carnitine O-palmitoyltransferase level, Hepatic failure, Renal tubular epithelial necrosi... |
ORPHA:228308 |
Von Hippel-Lindau Disease |
|
Pancreatic cysts, Neoplasm of the pancreas, Hypertension, Pallor, Myocardial infarction, Abnormal... |
ORPHA:892 |
Pseudohypoparathyroidism Type 1A |
|
Short stature, Calcinosis, Choreoathetosis, Hypertension, Prolonged QT interval, Obesity |
ORPHA:79443 |
Leptospirosis |
|
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Rhabdomyolysis, Hepatitis, Jaundice, Peric... |
ORPHA:509 |
Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Pulmonary arterial hypertension, Elevated circulating alanine aminotransfer... |
OMIM:614921 |
Aortic Arch Interruption |
|
Systolic heart murmur, Left ventricular outflow tract obstruction, Truncus arteriosus, Aortopulmo... |
ORPHA:2299 |
Autoimmune Hemolytic Anemia |
|
Pallor, Splenomegaly, Congestive heart failure, Arrhythmia |
ORPHA:98375 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave, Foot joint contracture, Infancy onset short-trunk short stature, Ventricular sep... |
ORPHA:444072 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Transaldolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Splenomegaly, Telangiectasia, Hepatic fibrosis, V... |
OMIM:606003 |
Short Qt Syndrome 7 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation |
OMIM:620231 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e... |
OMIM:618775 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Subvalvular aortic stenosis, Flexion contracture, Ischemic stroke, Elbow flexion contracture, Hep... |
OMIM:619503 |
Scorpion Envenomation |
|
Rhabdomyolysis, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST se... |
ORPHA:466677 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Patent ductus arteriosus, Palmoplantar erythema, Truncus arteriosus, Perimembranous ventricular s... |
OMIM:612474 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Muscular ventricular septal defect, Intrinsic hand muscle atrophy |
OMIM:618569 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Cholelithiasis, Cirrhosis, Abnormality of the liver, Jaundice, S... |
ORPHA:231222 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... |
OMIM:615344 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Splenomegaly, Congestive heart failure, Pallor |
ORPHA:90037 |
Sepsis In Premature Infants |
|
Hypotension, Splenomegaly, Decreased body weight, Petechiae, Small for gestational age, Jaundice,... |
ORPHA:90051 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Short stature, Congestive heart failure, Atrial septal defect, Pallor,... |
OMIM:105650 |
Noonan Syndrome With Multiple Lentigines |
|
Atrioventricular canal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal mit... |
ORPHA:500 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss, Intracranial hemorrhage, Pallor, Hepatomegaly, Splenomegaly |
ORPHA:3226 |
African Trypanosomiasis |
|
Third degree atrioventricular block, Weight loss, Abnormal EKG, Akinesia, Jaundice, Choreoathetos... |
ORPHA:3385 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Jaundice, Congestive heart failure, Pallor, Tachycardia, Splenomegaly |
ORPHA:90033 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Small for gestational age, Pericardial... |
ORPHA:555874 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Limb hypertonia, Perimembranous ventricular septal defect |
OMIM:619170 |
Leber Congenital Amaurosis 14 |
|
Falls, Pallor |
OMIM:613341 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Juvenile Dermatomyositis |
|
Mucosal telangiectasiae, Weight loss, Calcinosis, Bundle branch block, Telangiectasia of the skin... |
ORPHA:93672 |
Acquired Idiopathic Sideroblastic Anemia |
|
Splenomegaly, Congestive heart failure, Hepatomegaly, Pallor |
ORPHA:75564 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... |
ORPHA:439232 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Weight loss, Cere... |
ORPHA:276621 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Pallor |
ORPHA:228312 |
Ebstein Anomaly |
|
Sudden cardiac death, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Atrial s... |
OMIM:224700 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Short stature, Jaundice, Pallor, Growth delay, Hepatomegaly, Splenomegaly |
OMIM:615631 |
Acute Myelomonocytic Leukemia |
|
Weight loss, Pallor |
ORPHA:517 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Ventricular arrhythmia, Supraventricular arrhythmia, Pancreatitis, Congestive heart failure, Prox... |
ORPHA:280365 |
Brugada Syndrome 7 |
|
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
Leishmaniasis |
|
Weight loss, Skin ulcer, Elevated hepatic transaminase, Pallor, Hepatomegaly, Splenomegaly |
ORPHA:507 |
Primary Hyperoxaluria |
|
Arterial occlusion, Intermittent claudication, Raynaud phenomenon, Elevated hepatic transaminase,... |
ORPHA:416 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Akinesia, Dilated cardiomyopathy, Skeletal muscle atrophy, Arthrogrypo... |
OMIM:607598 |
Recessive Mitochondrial Ataxia Syndrome |
|
Gait disturbance, Ataxia, Dysmetria, ST segment elevation, Limb dysmetria |
ORPHA:94125 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Hypertension, C... |
OMIM:614473 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Abnormality of the liver, Elevated hepatic transaminase, Failure to thrive, Arrhythmia, Left bund... |
OMIM:610131 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor, Hepatosplenomegaly, Failure to thrive, Lethargy |
OMIM:611590 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Hepatomegaly, Tricuspid regurgitation, ... |
ORPHA:99125 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Short... |
ORPHA:3426 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor |
ORPHA:75563 |
Wrinkly Skin Syndrome |
|
Palmoplantar cutis laxa, Short stature, Atrial septal dilatation, Hypoplasia of the musculature, ... |
OMIM:278250 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Pallor, Hep... |
ORPHA:348 |
Brugada Syndrome 4 |
|
Shortened QT interval, Atrial fibrillation, Syncope |
OMIM:611876 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Left ventricular nonco... |
OMIM:300967 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Splenomegaly, Elevated total serum tryptase, Weight loss, Syncope, Pallor, Hepatomeg... |
ORPHA:98849 |
Dermatitis, Atopic |
|
Facial erythema, Dry skin, Pallor |
OMIM:603165 |
Acromesomelic Dysplasia 4 |
|
Disproportionate short stature, Third degree atrioventricular block, Rhizomelia, Short stature |
OMIM:619636 |
Beta-Ketothiolase Deficiency |
|
Hypotension, Weight loss, Hypertension, Ataxia, Pallor, Hepatomegaly |
ORPHA:134 |
Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Patent foramen ovale, Patent ductus arteriosus, Right ventric... |
ORPHA:99094 |
Hemoglobin D Disease |
|
Splenomegaly, Pallor |
ORPHA:90039 |
Waldenström Macroglobulinemia |
|
Retinal hemorrhage, Purpura, Congestive heart failure, Ataxia, Pallor, Epistaxis, Gastrointestina... |
ORPHA:33226 |
Rare Circulatory System Disease |
|
Elbow flexion contracture, Intermittent claudication, Pallor |
ORPHA:98028 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma |
ORPHA:615 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Diastasis recti, Ventricular septal defect, Small for gestational age, Large for gestational age,... |
ORPHA:254534 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Weight loss, Pericardial effusion, Ventricular arrhythmia, Supraventricular arrhythm... |
ORPHA:91347 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Weight loss, Cere... |
ORPHA:29072 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... |
OMIM:619343 |
Eisenmenger Syndrome |
|
Atrioventricular canal defect, Aortopulmonary window, Ventricular arrhythmia, Supraventricular ar... |
ORPHA:97214 |
Criss-Cross Heart |
|
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Supravalvular aorti... |
ORPHA:1461 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Jaundice, Ataxia, Pallor, Hepatomegaly, Increased circulating lactate dehydrogenase concentration |
OMIM:613839 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Hyperoxaluria, Primary, Type I |
|
Raynaud phenomenon, Intermittent claudication, Atrioventricular block, Arterial occlusion |
OMIM:259900 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor, Elevated hepatic transaminase, Short stature, Melena |
ORPHA:98870 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... |
OMIM:601144 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Left ventricular outflow tract obstruction, Ventricular septal def... |
OMIM:613854 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Patent foramen ovale, Diastasis recti, Pulmonary insufficiency, Hip con... |
ORPHA:576 |
Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Tachycardia, Weight loss, Pallor |
ORPHA:35858 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... |
OMIM:108950 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Pallor, Abnormal pulmonary valve morphology, Growth delay, Hepat... |
ORPHA:667 |
Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic hypotension, Syncope, Orthostatic syncope, Abnormal EKG |
ORPHA:230 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Intrauterine growth retardation, Atrial septal defect, Heart murmur |
ORPHA:2728 |
Blackfan-Diamond Anemia |
|
Abnormality of the thenar eminence, Ventricular septal defect, Short stature, Small for gestation... |
ORPHA:124 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Elevated hepatic transaminase, Heart blo... |
ORPHA:542323 |
Retinitis Pigmentosa 51 |
|
Obesity, Pallor |
OMIM:613464 |
Dravet Syndrome |
|
Progressive gait ataxia, Bradykinesia, Pallor |
ORPHA:33069 |
Cartilage-Hair Hypoplasia |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormality of the pancreas, Rhizomelia, Ab... |
ORPHA:175 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Nestor-Guillermo Progeria Syndrome |
|
Pulmonary arterial hypertension, Right bundle branch block, Flexion contracture, Short stature, S... |
OMIM:614008 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Degcags Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Patent ductus arteriosus, Ventricular sept... |
OMIM:619488 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:858 |
Right Atrial Isomerism |
|
Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr... |
OMIM:208530 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Reduced muscle carnitine level, Hypertrophic cardiomyopathy, Myopathy... |
OMIM:212140 |
Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Anemic pallor, Abnormal heart morphology, Short stature |
OMIM:600901 |
Congenital Alveolar Capillary Dysplasia |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Pulmonary valve atresia, Asplenia... |
ORPHA:210122 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:269920 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Intracranial hemorrhage, Hypertension, Epistaxis, Palpitations |
ORPHA:231625 |
Hamamy Syndrome |
|
Complete atrioventricular canal defect, Mitral regurgitation, Atrial septal defect, Prolonged QRS... |
OMIM:611174 |
Syndromic Diarrhea |
|
Patent ductus arteriosus, Splenomegaly, Hepatic fibrosis, Abnormality of the liver, Ventricular s... |
ORPHA:84064 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Left ventricular outflow tract obstruc... |
ORPHA:99050 |
Fanconi Anemia, Complementation Group A |
|
Small for gestational age, Anemic pallor, Abnormal heart morphology, Short stature |
OMIM:227650 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Jaundice, Pallor, Cholecystitis, Hepatomegaly, Cholelithiasis, Reduced red cell pyr... |
OMIM:266200 |
Hereditary Folate Malabsorption |
|
Failure to thrive, Skeletal muscle atrophy, Pallor |
ORPHA:90045 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Falls, Choreoathetosis, Ataxia, Pallor, Bradykinesia |
ORPHA:13 |
Fanconi Anemia, Complementation Group C |
|
Flexion contracture, Ventricular septal defect, Short stature, Small for gestational age, Anemic ... |
OMIM:227645 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect |
OMIM:618652 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Knee flexion contracture, Right bundle branch block, Decreased body weight, Short stature, Mitral... |
OMIM:617402 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Sheehan Syndrome |
|
Pallor, Palpitations, Orthostatic hypotension, Obesity, Bradycardia, Dry skin |
ORPHA:91355 |
Esophageal Atresia |
|
Ventricular septal defect, Small for gestational age, Pallor, Growth delay, Tetralogy of Fallot, ... |
ORPHA:1199 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor, Growth delay, Hepatomegaly, Elevated hepatic iron concentration, Splenomegaly |
OMIM:615234 |
Visceral Steatosis, Congenital |
|
Neonatal death, Jaundice, Hepatic steatosis, Myocardial steatosis, Lethargy |
OMIM:228100 |
Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252920 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Right bundle branch block, Cutis laxa, Hypoplastic right heart, Camptodactyly, Congestive heart f... |
OMIM:617403 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:619051 |
Mulibrey Nanism |
|
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis |
OMIM:253250 |
Homozygous Familial Hypercholesterolemia |
|
Sudden cardiac death, Abnormal tendon morphology, Tendon xanthomatosis, Heart murmur, Angina pect... |
ORPHA:391665 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor, Retinal hemorrhage, Palpitations |
ORPHA:86839 |
Aortic Valve Disease 1 |
|
Mitral atresia, Double outlet right ventricle, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Intrauterine growth retardat... |
ORPHA:2306 |
Fumarase Deficiency |
|
Failure to thrive, Hepatic failure, Cholestasis, Pallor |
OMIM:606812 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypertension, Pallor, Hypertensive crisis, Myocarditis, Pancreatitis |
ORPHA:544482 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Hepatomegaly, Abdominal sit... |
OMIM:306955 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Pericardial effusion, Abnormal left ventricular function, Subdural h... |
ORPHA:99827 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Pallor, Hepatosplenomegaly, Failure to thrive, Hepatomegaly |
ORPHA:331206 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Short stature, Small for gestational age, Abnormal heart morphology, An... |
OMIM:227646 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Small for gestational age, Elevated hepatic transaminase, Pallor, Failure to thr... |
OMIM:557000 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypertension associated with pheochromocytoma, Neoplasm of the liver, Pallor, Hypertensive crisis... |
ORPHA:653 |
Pearson Syndrome |
|
Hepatic failure, Abnormality of the liver, Small for gestational age, Exocrine pancreatic insuffi... |
ORPHA:699 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Refsum Disease, Classic |
|
Cardiomegaly, Limb muscle weakness, Cardiomyopathy |
OMIM:266500 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor |
OMIM:246450 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Myopathy, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Cantu Syndrome |
|
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve |
OMIM:239850 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Shortened QT interval, Pancreatitis, Weight loss |
ORPHA:143 |
Truncus Arteriosus |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre... |
ORPHA:3384 |
Prolactinoma |
|
Hypotension, Delayed puberty, Pallor |
ORPHA:2965 |
Hemochromatosis, Type 1 |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy |
OMIM:235200 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Inability to walk, Pallor |
ORPHA:439218 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Patent foramen ovale, Biliary atresia, Patent ductus arteriosus, Ventricul... |
ORPHA:2255 |
Pituitary Apoplexy |
|
Hypotension, Hypertension, Pallor |
ORPHA:95613 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Patent foramen ovale, Pancreatic hypoplasia, Biliary atresia, Patent ductus a... |
OMIM:600001 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:56425 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Atrioventricular canal defect, Right atrial isomerism, Double outlet ... |
OMIM:270100 |
Non-Functioning Pituitary Adenoma |
|
Hypotension, Pallor |
ORPHA:91349 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... |
OMIM:231005 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Contractures of the large joints, Abnormal atrioventricular valve morphology, Mitra... |
ORPHA:324410 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Cutis laxa, Congestive heart failure, Aortic regurgitation, Redundant ... |
OMIM:123700 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Pallor, Hepatosplenomegaly, Growth delay, Elevated hepatic iron co... |
ORPHA:300298 |
Aorta Coarctation |
|
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... |
ORPHA:1457 |
Irida Syndrome |
|
Pallor, Intrahepatic cholestasis |
ORPHA:209981 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Exercise-induced rhabdomyolysis, Cardiomegaly, Hepatomegaly |
OMIM:201475 |
Adenohypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95512 |
Multiple Endocrine Neoplasia Type 1 |
|
Weight loss, Neoplasm of the pancreas, Hypertension, Insulinoma, Hematemesis, Lethargy, Shortened... |
ORPHA:652 |
Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Panhypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95513 |
Incontinentia Pigmenti |
|
Erythema, Retinal hemorrhage, Short stature, Pallor |
OMIM:308300 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Shortened QT interval, Pancreatitis |
ORPHA:99880 |
Senior-Loken Syndrome 8 |
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Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation, Pallor |
OMIM:616307 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Splenomegaly, Hepatitis, Jaundice, Pallor, Hepatomegaly, Cholelithiasis |
OMIM:194380 |
Heterotaxy, Visceral, 12, Autosomal |
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Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Congenitally corre... |
OMIM:619702 |
Woodhouse-Sakati Syndrome |
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Abnormal T-wave, Choreoathetosis, Scaling skin, Delayed puberty, Growth delay |
ORPHA:3464 |
Cardiac-Urogenital Syndrome |
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Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... |
OMIM:618280 |
Beck-Fahrner Syndrome |
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Cardiomegaly, Facial hypotonia, Ventricular septal defect |
OMIM:618798 |
Lethal Congenital Contracture Syndrome 10 |
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Increased variability in muscle fiber diameter, Ventricular septal defect, Torticollis, Macroglos... |
OMIM:617022 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Hypertrophic cardiomyopathy, Cardiomegaly, Flexion contracture, Ventricular septal defect |
OMIM:616897 |
Letterer-Siwe Disease |
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Pallor, Jaundice, Hepatosplenomegaly |
OMIM:246400 |
Hsd10 Disease, Infantile Type |
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Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Cardiomegaly |
OMIM:613320 |
Familial Aortic Dissection |
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Cardiomegaly |
ORPHA:229 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
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Anemic pallor, Hematochezia, Growth delay |
ORPHA:329971 |
Fucosidosis |
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Cardiomegaly, Decreased muscle mass, Hepatomegaly |
ORPHA:349 |
Myelofibrosis |
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Purpura, Splenomegaly, Pallor |
OMIM:254450 |
Sandhoff Disease |
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Macroglossia, Hepatosplenomegaly, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Pseudo-Torch Syndrome 3 |
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Cardiomegaly |
OMIM:618886 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomegaly, Limb muscle weakness, Cardiomyopathy |
OMIM:619259 |
Craniofaciofrontodigital Syndrome |
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Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Macroglossia, Atrial sept... |
ORPHA:363705 |
Symptomatic Form Of Hemochromatosis Type 1 |
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