| Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
| Type 1 Diabetes Mellitus 2 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:125852 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
| Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
| Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Increased circulating ACTH level |
OMIM:202355 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Mental Retardation, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
| Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
| Paragangliomas 3 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Episodic paro... |
OMIM:605373 |
| Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
| Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Paragangliomas 1 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Palpita... |
OMIM:168000 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
| Wolfram-Like Syndrome, Autosomal Dominant |
|
Anxiety, Depression, Diabetes mellitus |
OMIM:614296 |
| Trimethylaminuria |
|
Hypertension, Depression, Tachycardia |
OMIM:602079 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
| His Bundle Tachycardia |
|
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia |
ORPHA:3283 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c |
OMIM:610582 |
| Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia |
OMIM:107970 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:610476 |
| Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
| Hyperthyroidism, Familial Gestational |
|
Hyperthyroidism, Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Tac... |
OMIM:603373 |
| Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
| Coproporphyria, Hereditary |
|
Anxiety, Hypertension, Depression, Tachycardia |
OMIM:121300 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602087 |
| Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Maternal diabetes, Reduced ejection fraction, Supraventricular tachycardia,... |
ORPHA:45452 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602086 |
| Insulinomatosis And Diabetes Mellitus |
|
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:147630 |
| Brugada Syndrome 1 |
|
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... |
OMIM:601144 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Syncope, Ventricular tachycardia |
ORPHA:3286 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... |
OMIM:610193 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
| Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Ventricular tachycardia, Syncope, Cardiac arrest |
OMIM:614916 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... |
OMIM:607450 |
| Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia |
OMIM:609909 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death |
OMIM:612124 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... |
OMIM:614954 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Focal pancreatic islet hyperplasia, Excessive insulin respo... |
ORPHA:276575 |
| Atrial Fibrillation, Familial, 1 |
|
Tachycardia, Atrial fibrillation |
OMIM:608583 |
| Atrial Fibrillation, Familial, 3 |
|
Tachycardia, Atrial fibrillation |
OMIM:607554 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Maternal diabetes, Excessive insulin response to glucagon t... |
ORPHA:276580 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus |
OMIM:618858 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
| Atrial Standstill 1 |
|
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... |
OMIM:108770 |
| Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... |
ORPHA:1344 |
| Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
| Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block |
OMIM:192605 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... |
ORPHA:99105 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... |
OMIM:618920 |
| Stiff-Person Syndrome |
|
Hypertension, Agoraphobia, Tachycardia, Diabetes mellitus, Anxiety, Depression |
OMIM:184850 |
| Acquired Methemoglobinemia |
|
Syncope, Palpitations, Tachycardia, Anxiety, Arrhythmia |
ORPHA:464453 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Syncope, Maternal diabetes, Excessive insulin response to glucagon test, Maturity-onset diabetes ... |
ORPHA:324575 |
| Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
| Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... |
OMIM:600884 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Tachycardia, Hyperinsulinemia |
ORPHA:276608 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Excessive insulin response to glucagon test, Palpitations, ... |
ORPHA:276556 |
| Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... |
OMIM:115000 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
| Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
| Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
| Acute Peripheral Arterial Occlusion |
|
Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormality of venous ph... |
ORPHA:90064 |
| Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
| Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension |
OMIM:236800 |
| Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
| Early-Onset Schizophrenia |
|
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... |
ORPHA:96369 |
| Long Qt Syndrome 1 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... |
OMIM:192500 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... |
OMIM:613838 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Hypertension, Abnormal T-wave, Re... |
ORPHA:563 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:220400 |
| Paragangliomas 4 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Paraganglioma... |
OMIM:115310 |
| Long Qt Syndrome 2 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613688 |
| Long Qt Syndrome 6 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613693 |
| Long Qt Syndrome 5 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613695 |
| Long Qt Syndrome 3 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:603830 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Palpitations, Hyperthyroidism, Tachycardia, Goiter |
OMIM:613239 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation |
OMIM:611878 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Hyperthyroidism, Tachycardia, Goiter |
OMIM:188580 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular arrhythmia |
OMIM:601493 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... |
OMIM:612158 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
| Short Qt Syndrome 3 |
|
Palpitations, Shortened QT interval, Tachycardia |
OMIM:609622 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Anxiety, Emotional lability, Depression, Tachycardia |
ORPHA:79264 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Bundle branch block |
OMIM:615616 |
| Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy |
OMIM:613873 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... |
OMIM:212138 |
| Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:612347 |
| Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Restrictive cardiomyopathy, Congestive heart failure, Ventricular arrhythmia |
OMIM:613424 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
OMIM:610006 |
| Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
| Myotonic Dystrophy 2 |
|
Elevated circulating follicle stimulating hormone level, Palpitations, Tachycardia, Hypogonadism,... |
OMIM:602668 |
| Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
| Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia |
OMIM:615916 |
| Familial Dilated Cardiomyopathy |
|
Reduced ejection fraction, Atrial fibrillation, Mitral regurgitation, Palpitations, Ventricular a... |
ORPHA:217607 |
| Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
| Long Qt Syndrome 12 |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
| Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Hypothermia |
OMIM:245400 |
| Menkes Disease |
|
Hypothermia |
OMIM:309400 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... |
OMIM:600858 |
| Idiopathic Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:95717 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Coronary Arterial Fistula |
|
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... |
ORPHA:2041 |
| 16P12.1P12.3 Triplication Syndrome |
|
Skin-picking, Tachycardia, Anxiety, Decreased response to growth hormone stimulation test, Nail-b... |
ORPHA:485405 |
| Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... |
OMIM:610475 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... |
OMIM:610489 |
| Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
| Porphyria, Acute Intermittent |
|
Anxiety, Hypertension, Depression, Tachycardia |
OMIM:176000 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... |
ORPHA:263297 |
| Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Atrial flutter, Paroxysmal atrial tachycardia, Tricuspid regurgit... |
OMIM:614022 |
| Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... |
ORPHA:1501 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Atrial fibrillation, Mitral regurgitation, Ventric... |
OMIM:604169 |
| Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Irritability, Tachycardia |
OMIM:229700 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Pheochromocyto... |
OMIM:171420 |
| Meningococcal Meningitis |
|
Hypothermia, Irritability, Fever |
ORPHA:33475 |
| Naxos Disease |
|
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... |
ORPHA:34217 |
| Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
| Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation |
ORPHA:104 |
| Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
| Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Prolonged QT interval, Ventricular arrhythmia, Irritability, Anxie... |
ORPHA:36913 |
| Hyperthyroidism, Nonautoimmune |
|
Hyperthyroidism, Tachycardia, Thyroid hyperplasia, Goiter |
OMIM:609152 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Large for gestational age |
ORPHA:226313 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation |
OMIM:612956 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Snakebite Envenomation |
|
Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic shock, Myocardial... |
ORPHA:449285 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Anemia, Splenomegaly |
ORPHA:75563 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
| Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
| Permanent Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:226292 |
| Serotonin Syndrome |
|
Hypertension, Tachycardia, Irritability, Anxiety, Hypotension |
ORPHA:43116 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... |
OMIM:608751 |
| Brugada Syndrome 2 |
|
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
| Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction |
OMIM:604401 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... |
OMIM:616201 |
| Tako-Tsubo Cardiomyopathy |
|
Syncope, Hypertension, Prolonged QT interval, Decreased QRS voltage, Ventricular arrhythmia, Mitr... |
ORPHA:66529 |
| Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
| Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Obesity, Abnormality of temperature regulation, Hypothermia, Fever |
OMIM:618493 |
| Congenital Enterovirus Infection |
|
Hypothermia, Irritability, Fever |
ORPHA:292 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... |
ORPHA:37553 |
| Von Hippel-Lindau Disease |
|
Adrenal pheochromocytoma, Pancreatic endocrine tumor, Pancreatic islet cell adenoma, Myocarditis,... |
ORPHA:892 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... |
OMIM:613243 |
| Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis |
OMIM:141700 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hypothermia |
OMIM:251880 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal QRS complex, Maternal diabetes, Abnormality of blood circulation, Tachycardia, Congestiv... |
ORPHA:860 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Tachycardia, Hyperinsulinemia |
ORPHA:263455 |
| Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... |
ORPHA:1329 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... |
ORPHA:99103 |
| Familial Thyroid Dyshormonogenesis |
|
Hypothermia |
ORPHA:95716 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Diabetes mellitus |
OMIM:619278 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Ventricular... |
OMIM:600996 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:609040 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Cardiac arrest, Ventricular tachycardia, Ventricular fibrillation |
OMIM:300952 |
| Porphyria Variegata |
|
Anxiety, Hypertension, Tachycardia, Inappropriate antidiuretic hormone secretion |
ORPHA:79473 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Congestive heart failure, Cardiac arrest, Paroxysmal atrial tachycardia, Diabetes mellitus |
ORPHA:49827 |
| Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia |
ORPHA:90037 |
| Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
| Congenital Hypothyroidism |
|
Anxiety, Hypothermia |
ORPHA:442 |
| Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia |
ORPHA:848 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Syncope, Tachycardia |
OMIM:615821 |
| Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation |
ORPHA:90647 |
| Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular tachycardia, Cardiomyopathy, Irritability, Arrhythmia, Hypotension |
ORPHA:159 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Bradycardia, Atrial fibrillation |
OMIM:614302 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypothermia, Small for gestational age |
OMIM:618775 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia |
OMIM:613870 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Reduced ejection fraction, Tachycardia, Heart block, Arrhythmia, Hypotension, Capillary leak |
ORPHA:542323 |
| Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
| Tatton-Brown-Rahman Syndrome |
|
Neuroendocrine neoplasm, Mitral regurgitation, Aggressive behavior, Tricuspid regurgitation, Supr... |
ORPHA:404443 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Atrial fibrillation, Tachycardia, Bradycardia, Hyperinsulinemia |
OMIM:613327 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypothermia, Weight loss, Apathy, Fever |
ORPHA:20 |
| Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Obesity, Hypothermia, Small for gestational age, Overweight |
ORPHA:26793 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Ethylene Glycol Poisoning |
|
Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Tachycardia, Euphoria, Congestiv... |
ORPHA:31826 |
| Histiocytoid Cardiomyopathy |
|
Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventricular tachycardi... |
ORPHA:137675 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Hypertension, Emotional lability, Tachycardia |
OMIM:223900 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Bradycardia, Hypogonadism, Diabetes mellitus, Abnormality of the thyroid gland, D... |
OMIM:609286 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Carney Triad |
|
Adrenal overactivity, Adrenocortical adenoma, Hypertension, Tachycardia, Paraganglioma, Gastroint... |
ORPHA:139411 |
| Tetanus |
|
Hypertension, Bradycardia, Tachycardia |
ORPHA:3299 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Decreased serum insulin-like growth factor 1, Aborted sudden cardiac deat... |
OMIM:614921 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Irritability, Tachycardia |
ORPHA:348 |
| Alexander Disease |
|
Self-injurious behavior, Emotional lability, Hypothermia, Failure to thrive |
ORPHA:58 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypertrophic cardiomyopathy, Ventricular tachycardia, Torsade de pointes, Prolonged QTc interval,... |
OMIM:616878 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Emotional lability, Irritability, Temperature instability, Intermittent hypothermia |
OMIM:608643 |
| Pheochromocytoma |
|
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Pheochromocyto... |
OMIM:171300 |
| Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... |
OMIM:163800 |
| Ebstein Anomaly |
|
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Right bundle branch block, Sud... |
OMIM:224700 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Failure to thrive, Hypothermia |
OMIM:618329 |
| Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Pulmonic stenosis, Aplasia/Hypoplasia of the thymus, Heart murmur |
ORPHA:3426 |
| Cholera |
|
Hypovolemic shock, Irritability, Tachycardia, Hypotension |
ORPHA:173 |
| Tularemia |
|
Tachycardia |
ORPHA:3392 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
| Acute Intermittent Porphyria |
|
Anxiety, Hypertension, Depression, Tachycardia |
ORPHA:79276 |
| Neuroleptic Malignant Syndrome |
|
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Pulmonary embolism, Anxiety, Arrhyth... |
ORPHA:94093 |
| Orthostatic Hypotension 1 |
|
Intermittent hypothermia |
OMIM:223360 |
| Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia |
ORPHA:368 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
| Hereditary Coproporphyria |
|
Tachycardia |
ORPHA:79273 |
| Brugada Syndrome 5 |
|
Ventricular fibrillation, ST segment elevation, Bundle branch block |
OMIM:612838 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... |
ORPHA:75565 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Adrenal insufficiency, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abn... |
ORPHA:99827 |
| Beta-Thalassemia Intermedia |
|
Leukocytosis, Erythroid hyperplasia, Splenomegaly, Persistence of hemoglobin F, Hepatosplenomegal... |
ORPHA:231222 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... |
ORPHA:216694 |
| Cocaine Intoxication |
|
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... |
ORPHA:90068 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Hypothermia |
ORPHA:90674 |
| Graft Versus Host Disease |
|
Irritability, Tachycardia |
ORPHA:39812 |
| Congenital Fibrinogen Deficiency |
|
Internal hemorrhage, Tachycardia |
ORPHA:335 |
| Relapsing Fever |
|
Epistaxis, Tachycardia, Hypotension |
ORPHA:91547 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Failure to thrive, Aggressive behavior, Hypothermia |
ORPHA:17 |
| Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
| Genetic Transient Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:226316 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Failure to thrive, Hypothermia, Fever |
ORPHA:255210 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bradycardia, Tachycardia |
OMIM:614653 |
| Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis |
OMIM:617222 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypothermia, Self-injurious behavior, Aggressive behavior, Fever, Emotional lability, Obesity |
ORPHA:293987 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia |
ORPHA:90673 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
| Scorpion Envenomation |
|
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Cardiac conductio... |
ORPHA:466677 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hypothermia |
ORPHA:488632 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Ventricular arrhythmia |
OMIM:613426 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Failure to thrive, Hypothermia |
ORPHA:79282 |
| Ogden Syndrome |
|
Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, Torsade... |
OMIM:300855 |
| Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Syncope, Atrioventricular block, Left bundle branch block, Transient... |
OMIM:115197 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia |
ORPHA:230 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Temperature instability, Hypothermia |
ORPHA:99027 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia |
ORPHA:542306 |
| Glossopharyngeal Neuralgia |
|
Syncope, Bradycardia, Anxiety, Jaw claudication, Depression |
ORPHA:221098 |
| Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hypersplenism, Hepatosp... |
ORPHA:231226 |
| Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... |
ORPHA:231214 |
| Gitelman Syndrome |
|
Prolonged QT interval, Palpitations, Ventricular tachycardia, Increased circulating renin level, ... |
OMIM:263800 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent fever, Unexplained fevers, Hypothermia, Self-mutilation, Abnormal emotion/affect behavi... |
ORPHA:642 |
| Steinert Myotonic Dystrophy |
|
Dilated cardiomyopathy, Cardiac conduction abnormality, Diabetes mellitus, Anxiety, Impairment in... |
ORPHA:273 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Dilated cardiomyopathy, Reduced ejection fraction, Goiter, Ventricular arrhythmia, Palpitations, ... |
ORPHA:254892 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
| Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly |
|
Premature ventricular contraction |
OMIM:133750 |
| Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Shock, Tachycardia, Hypotension, Capillary leak |
ORPHA:36234 |
| Malignant Hyperthermia Of Anesthesia |
|
Premature ventricular contraction, Supraventricular tachycardia, High-output congestive heart fai... |
ORPHA:423 |
| Cirrhotic Cardiomyopathy |
|
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... |
ORPHA:57777 |
| Sepsis In Premature Infants |
|
Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
| Tsh-Secreting Pituitary Adenoma |
|
Goiter, Ventricular arrhythmia, Abnormality of the pituitary gland, Elevated circulating thyroid-... |
ORPHA:91347 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypertrophic cardiomyopathy, Mitral regurgitation, Pulmonary arterial hypertension, Tachycardia, ... |
ORPHA:505248 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Syncope, Tachycardia, Hypotension |
ORPHA:98849 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Hypertension, Intracranial hemorrhage, Palpitations, Subconjunctival hemorrhage, Epistaxis... |
ORPHA:340 |
| Absence Of The Pulmonary Artery |
|
Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Pulmonary arterial hyperte... |
ORPHA:980 |
| Marburg Hemorrhagic Fever |
|
Shock, Pericarditis, Subconjunctival hemorrhage, Aggressive behavior, Tachycardia, Bradycardia, H... |
ORPHA:99826 |
| Cardiac Diverticulum |
|
Premature ventricular contraction, Syncope, Tricuspid stenosis, Palpitations, Ventricular tachyca... |
ORPHA:1686 |
| Eisenmenger Syndrome |
|
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Ventricular arrhyth... |
ORPHA:97214 |
| Menkes Disease |
|
Hypothermia |
ORPHA:565 |
| Imerslund-Gräsbeck Syndrome |
|
Tachycardia |
ORPHA:35858 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hypertrophic cardiomyopathy, Ventricular arrhythmia, Abnormal atrioventricular conduction, Decrea... |
ORPHA:280365 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Hypertension, Tachycardia |
ORPHA:1764 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypothermia, Overweight |
ORPHA:226307 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia |
ORPHA:71273 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Premature ventricular contraction, Heart block |
ORPHA:1964 |
| Plague |
|
Tachycardia, Arrhythmia, Anxiety, Hematemesis, Depression, Hypotension |
ORPHA:707 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Paroxysmal supraventricular tachycardia, Pulmonic stenosis |
OMIM:617877 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Streak ovary, Tachycardia, Increased circulating gonadotropin level, Hypot... |
ORPHA:1772 |
| Rh Deficiency Syndrome |
|
Tachycardia |
ORPHA:71275 |
| Occipital Horn Syndrome |
|
Hypothermia |
ORPHA:198 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia |
OMIM:218700 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventricular ... |
ORPHA:98853 |
| Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventricular ... |
ORPHA:261 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Atrioventricular block, Sudden cardiac death, ... |
ORPHA:98855 |
| Mirizzi Syndrome |
|
Tachycardia |
ORPHA:521219 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventricular block, Sudden cardiac de... |
ORPHA:98863 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:141750 |
| Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... |
OMIM:260400 |
| Sarcoidosis |
|
Hypothermia, Weight loss, Fever |
ORPHA:797 |
| Thymoma |
|
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
| Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
| Neurotrophic Keratopathy |
|
Allodynia, Diabetes mellitus |
ORPHA:137596 |
| Degcags Syndrome |
|
Pulmonary arterial hypertension, Tachycardia, Pulmonic stenosis |
OMIM:619488 |
| Truncus Arteriosus |
|
Adrenocortical abnormality, Aortic regurgitation, Hypoplasia of the thymus, Tachycardia, Pulmonic... |
ORPHA:3384 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypothermia |
ORPHA:438213 |
| Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Bradycardia, Paroxysmal supraventricular tachycardia |
OMIM:601375 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia |
ORPHA:330015 |
| Legius Syndrome |
|
Paroxysmal atrial tachycardia, Pulmonic stenosis |
ORPHA:137605 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Right ventricular failure, Mitral regurgitation, Pulmonary arterial hypertension, Low-output cong... |
ORPHA:99125 |
| Orthostatic Intolerance |
|
|
OMIM:604715 |
