| Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hyperthyroxinemia, Familial Dysalbuminemic |
|
Abnormal thyroid-stimulating hormone level, Increased circulating free T4 concentration, Euthyroi... |
OMIM:615999 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Trimethylaminuria |
|
Tachycardia, Depression, Hypertension |
OMIM:602079 |
| Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:603373 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death |
OMIM:107970 |
| Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... |
ORPHA:45453 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... |
ORPHA:3286 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... |
OMIM:610476 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... |
ORPHA:276575 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... |
OMIM:614916 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... |
ORPHA:276580 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Cardiomyopathy, Dilated, 2I |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... |
OMIM:620462 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... |
OMIM:619897 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... |
ORPHA:45452 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Excessive insulin response to ... |
ORPHA:276556 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... |
ORPHA:324575 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... |
OMIM:612124 |
| Cardiomyopathy, Dilated, 1G |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... |
OMIM:604145 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Tachycardia, ... |
ORPHA:276608 |
| Brugada Syndrome 1 |
|
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... |
OMIM:601144 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... |
OMIM:611528 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter |
OMIM:615770 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... |
OMIM:603830 |
| Long Qt Syndrome 13 |
|
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... |
OMIM:613485 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Palpitatio... |
OMIM:605373 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... |
OMIM:616249 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis |
OMIM:618858 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... |
OMIM:613838 |
| Coproporphyria, Hereditary |
|
Tachycardia, Depression, Hypertension |
OMIM:121300 |
| Atrial Standstill |
|
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... |
ORPHA:1344 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... |
OMIM:614954 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Increased circulating T4 concentration, Increased circulating free T4 concentration, Hype... |
OMIM:613239 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
| Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure |
OMIM:609909 |
| Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy |
OMIM:192605 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... |
OMIM:615441 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti... |
OMIM:168000 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ... |
OMIM:616329 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... |
OMIM:607450 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes |
OMIM:610582 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... |
OMIM:618920 |
| Atrial Standstill 1 |
|
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... |
OMIM:108770 |
| Wolff-Parkinson-White Syndrome |
|
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... |
OMIM:194200 |
| Long Qt Syndrome 2 |
|
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... |
OMIM:613688 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... |
ORPHA:99105 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:613251 |
| Cardiomyopathy, Dilated, 2F |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:619747 |
| Hyperthyroidism, Nonautoimmune |
|
Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 concentratio... |
OMIM:609152 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
| Long Qt Syndrome 6 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... |
OMIM:613693 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Dysphagia, Cardiomyopathy |
OMIM:255100 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c |
OMIM:606176 |
| Premature Ovarian Failure 17 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... |
OMIM:619146 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... |
OMIM:600884 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... |
OMIM:115000 |
| Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval |
OMIM:220400 |
| Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
| Optic Atrophy 16 |
|
Paroxysmal tachycardia |
OMIM:620629 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri... |
OMIM:601493 |
| Acute Peripheral Arterial Occlusion |
|
Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous physiology, Ab... |
ORPHA:90064 |
| Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
| Long Qt Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... |
OMIM:192500 |
| Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... |
OMIM:609040 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... |
ORPHA:563 |
| Thyroid Hormone Resistance, Selective Pituitary |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... |
OMIM:145650 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Depression, Diabetes mellitus |
OMIM:184850 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
| Riboflavin Deficiency |
|
Hypothermia |
OMIM:615026 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... |
OMIM:612347 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations, Hyperthyroidism, Goiter |
OMIM:188580 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Tachycardia, Syncope |
OMIM:192445 |
| Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... |
ORPHA:300751 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Left Ventricular Noncompaction 1 |
|
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg... |
OMIM:604169 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Supraventricular tac... |
OMIM:612158 |
| Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Atrioventricular block, Cardiomyopathy, Irritability, Premature ventricular contract... |
OMIM:212138 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
OMIM:610006 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Emotional lability, Dysphagia, Tachycardia, Motor stereotypy |
ORPHA:79264 |
| Snakebite Envenomation |
|
Epistaxis, Hypotension, Neuromuscular dysphagia, Cardiogenic shock, Pseudobulbar paralysis, Hypop... |
ORPHA:449285 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Congestive heart failure, Irritability, Aggressive behavior, Hype... |
ORPHA:3077 |
| Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
| Glycogen Storage Disease Xv |
|
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... |
OMIM:613507 |
| Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... |
ORPHA:101016 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... |
OMIM:163800 |
| Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Increased left vent... |
OMIM:613424 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... |
OMIM:613873 |
| Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
| Brugada Syndrome 3 |
|
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... |
OMIM:611875 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... |
ORPHA:263297 |
| Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia, Failure to thrive |
OMIM:245400 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
| Idiopathic Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:95717 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia |
OMIM:617182 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... |
OMIM:616201 |
| Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... |
OMIM:615916 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Congestive heart failure, Paroxysmal atrial tachycardia, Anorexia, Cardiac arrest, Diabetes mellitus |
ORPHA:49827 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... |
ORPHA:2041 |
| Long Qt Syndrome 14 |
|
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... |
OMIM:616247 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Irritability |
OMIM:229700 |
| Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Hypertension, Agitation |
OMIM:613870 |
| Meningococcal Meningitis |
|
Fever, Hypothermia, Irritability |
ORPHA:33475 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension, Motor stereotypy |
ORPHA:79155 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... |
OMIM:608751 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Tachycardia, ... |
ORPHA:263455 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parki... |
OMIM:613690 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation |
OMIM:612956 |
| Myotonic Dystrophy 2 |
|
Hypogonadism, Palpitations, Type II diabetes mellitus, Premature ventricular contraction, Elevate... |
OMIM:602668 |
| Naxos Disease |
|
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... |
ORPHA:34217 |
| 16P12.1P12.3 Triplication Syndrome |
|
Decreased response to growth hormone stimulation test, Skin-picking, Attention deficit hyperactiv... |
ORPHA:485405 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio... |
OMIM:171420 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:611878 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Glucose intolerance, Splenomegaly |
ORPHA:75563 |
| Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation |
ORPHA:104 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Hypothermia |
ORPHA:226313 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
| N-Acetylglutamate Synthase Deficiency |
|
Hypothermia, Failure to thrive |
OMIM:237310 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Hypotension, Cardiac arrest, Bradycardia |
ORPHA:70587 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypothermia |
OMIM:614498 |
| Brugada Syndrome 2 |
|
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
| Acquired Methemoglobinemia |
|
Tachycardia, Arrhythmia, Palpitations, Syncope |
ORPHA:464453 |
| Tako-Tsubo Cardiomyopathy |
|
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... |
ORPHA:66529 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Diabetes mellitus |
OMIM:619278 |
| Serotonin Syndrome |
|
Hypotension, Irritability, Tachycardia, Restlessness, Hypertension, Agitation |
ORPHA:43116 |
| High Altitude Pulmonary Edema |
|
Tachycardia, Anorexia |
ORPHA:330012 |
| Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... |
ORPHA:37553 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Arrh... |
ORPHA:139411 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Hypergonadotropic hypogonadism |
OMIM:619737 |
| Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
| Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
| Timothy Syndrome |
|
Atrioventricular block, Pulmonary arterial hypertension, Hypothyroidism, Ventricular tachycardia,... |
OMIM:601005 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Obesity, Abnormality of temperature regulation, Hypothermia |
OMIM:618493 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
| Tetanus |
|
Hypertension, Tachycardia, Dysphagia, Bradycardia |
ORPHA:3299 |
| Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... |
OMIM:620247 |
| Congenital Enterovirus Infection |
|
Fever, Hypothermia, Irritability |
ORPHA:292 |
| Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... |
OMIM:601214 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... |
OMIM:611705 |
| Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval |
ORPHA:90647 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Congestive heart failure, Abnormal QRS complex, Heart murmur, Abnormality of blood circulation, C... |
ORPHA:860 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia |
OMIM:618782 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Porphyria, Acute Intermittent |
|
Tachycardia, Depression, Hypertension |
OMIM:176000 |
| Autoimmune Hypoparathyroidism |
|
Depression, Autoimmune hypoparathyroidism, Irritability, Prolonged QT interval, Ventricular arrhy... |
ORPHA:36913 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Tachycardia, Dysphagia |
OMIM:613327 |
| Short Qt Syndrome 7 |
|
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death |
OMIM:620231 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... |
ORPHA:99103 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia, Dysphagia |
ORPHA:368 |
| Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... |
ORPHA:1329 |
| Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
| Danon Disease |
|
Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q... |
OMIM:300257 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:613243 |
| Menkes Disease |
|
Hypothermia |
OMIM:309400 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Familial Thyroid Dyshormonogenesis |
|
Hypothermia |
ORPHA:95716 |
| Sepsis In Premature Infants |
|
Temperature instability, Fever, Hypothermia, Decreased body weight, Small for gestational age |
ORPHA:90051 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Oral-pharyngeal dysphagia, Torsade de pointes, Hypertrophic cardiomyopathy, Premature thelarche, ... |
OMIM:616878 |
| Mercury Poisoning |
|
Tachycardia, Hypotension, Hypertension, Anorexia |
ORPHA:330021 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Depression, Cardiomyopathy, Hypogonadism, Abnormality of the thyroid gland, Arrhythmia, Dysphagia... |
OMIM:609286 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Chemodectoma, Palpitations, Hypertension associated with pheochromocytoma, Adrenal pheochromocyto... |
OMIM:115310 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiomyopathy, Irritability, Arrhythmia, Ventricular tachycardia |
ORPHA:159 |
| Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Obesity, Overweight, Small for gestational age |
ORPHA:26793 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypothermia, Small for gestational age |
OMIM:618775 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure |
ORPHA:90037 |
| Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:848 |
| Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Hypertension, S... |
ORPHA:90068 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Aggressive behavior, Tachycardia, Dilated cardiomyopathy, Irritability |
OMIM:618321 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,... |
ORPHA:542323 |
| Ethylene Glycol Poisoning |
|
Hypotension, Congestive heart failure, Shock, Addictive alcohol use, Euphoria, Prolonged QT inter... |
ORPHA:31826 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Tachycardia, Hypertension, Emotional lability, Orthostatic hypotension |
OMIM:223900 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Intermittent hypothermia, Temperature instability, Emotional lability, Irritability |
OMIM:608643 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
| Neuroblastoma |
|
Elevated circulating catecholamine level, Hypertension, Irritability |
ORPHA:635 |
| Alexander Disease |
|
Hypothermia, Emotional lability, Depression, Failure to thrive |
ORPHA:58 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypothermia, Depression, Failure to thrive |
ORPHA:90674 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul... |
OMIM:613426 |
| Mody |
|
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Glucose ... |
ORPHA:552 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Paroxysmal atrial fibrillation, Ventricular tachycardia, Paroxysmal atrial tachycardia |
OMIM:613205 |
| Congenital Disorder Of Glycosylation, Type It |
|
Aborted sudden cardiac death, Dilated cardiomyopathy, Pulmonary arterial hypertension, Decreased ... |
OMIM:614921 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypothermia, Failure to thrive |
OMIM:618329 |
| Cirrhotic Cardiomyopathy |
|
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... |
ORPHA:57777 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
| Ebstein Anomaly |
|
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... |
OMIM:224700 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Irritability |
ORPHA:348 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Weight loss, Hypothermia |
ORPHA:20 |
| Tularemia |
|
Tachycardia |
ORPHA:3392 |
| Pheochromocytoma |
|
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio... |
OMIM:171300 |
| Cholera |
|
Tachycardia, Hypotension, Hypovolemic shock, Irritability |
ORPHA:173 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypothermia, Failure to thrive |
OMIM:251880 |
| Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
| Gitelman Syndrome |
|
Hypotension, Polydipsia, Palpitations, Salt craving, Ventricular tachycardia, Delayed puberty, Pr... |
OMIM:263800 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tach... |
OMIM:300952 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... |
ORPHA:216694 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Syncope, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:615821 |
| Double Outlet Right Ventricle |
|
Aplasia/Hypoplasia of the thymus, Heart murmur, Hypoparathyroidism, Tachycardia, Pulmonic stenosis |
ORPHA:3426 |
| Scorpion Envenomation |
|
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... |
ORPHA:466677 |
| Crimean-Congo Hemorrhagic Fever |
|
Emotional lability, Anorexia, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Adre... |
ORPHA:99827 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
| Graft Versus Host Disease |
|
Tachycardia, Irritability |
ORPHA:39812 |
| Acute Intermittent Porphyria |
|
Depression, Pseudobulbar paralysis, Tachycardia, Restlessness, Hypertension |
ORPHA:79276 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... |
ORPHA:231222 |
| Relapsing Fever |
|
Tachycardia, Hypotension, Epistaxis |
ORPHA:91547 |
| Von Hippel-Lindau Disease |
|
Elevated circulating catecholamine level, Cardiomyopathy, Palpitations, Hypertension, Myocardial ... |
ORPHA:892 |
| Hereditary Coproporphyria |
|
Tachycardia |
ORPHA:79273 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Internal hemorrhage |
ORPHA:335 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Congestive heart failure |
ORPHA:90033 |
| Genetic Transient Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:226316 |
| Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Pulmonary embolism, Hypertension, Arrhythmia, Bradycardia, Tach... |
ORPHA:94093 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Emotional la... |
OMIM:219090 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hypothermia, Failure to thrive |
ORPHA:255210 |
| Porphyria Variegata |
|
Tachycardia, Inappropriate antidiuretic hormone secretion, Hypertension |
ORPHA:79473 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Ziegler-Huang Syndrome |
|
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval |
ORPHA:542306 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia |
ORPHA:90673 |
| Tatton-Brown-Rahman Syndrome |
|
Neuroendocrine neoplasm, Tricuspid regurgitation, Mitral regurgitation, Aggressive behavior, Supr... |
ORPHA:404443 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypothermia, Failure to thrive |
ORPHA:17 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hypothermia |
ORPHA:488632 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Restlessness, Abnormal fear-induced behavior, Agitation |
ORPHA:100924 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia |
ORPHA:230 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypothermia, Failure to thrive |
ORPHA:79282 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Capillary leak, Hemateme... |
ORPHA:340 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Temperature instability, Hypothermia |
ORPHA:99027 |
| Atrial Standstill 2 |
|
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... |
OMIM:615745 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Depression, Fever, Obesity, Hypothermia, Emotional lability |
ORPHA:293987 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... |
OMIM:115197 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231214 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Mirizzi Syndrome |
|
Tachycardia, Anorexia |
ORPHA:521219 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia |
OMIM:614653 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... |
OMIM:620519 |
| Malignant Hyperthermia Of Anesthesia |
|
Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, High-ou... |
ORPHA:423 |
| Orthostatic Hypotension 1 |
|
Intermittent hypothermia |
OMIM:223360 |
| Bacterial Toxic-Shock Syndrome |
|
Hypotension, Shock, Myocarditis, Tachycardia, Capillary leak |
ORPHA:36234 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest |
OMIM:277400 |
| Steinert Myotonic Dystrophy |
|
Oral-pharyngeal dysphagia, Hyperinsulinemia, Emotional lability, Obsessive-compulsive trait, Prol... |
ORPHA:273 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Mitral stenosis, Pre... |
ORPHA:1686 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... |
ORPHA:91347 |
| Eisenmenger Syndrome |
|
Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr... |
ORPHA:97214 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Depression, Dilated cardiomyopathy, Goiter, Reduced left ventricular ejection fraction, Palpitati... |
ORPHA:254892 |
| Absence Of The Pulmonary Artery |
|
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... |
ORPHA:980 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Overweight, Hypothermia |
ORPHA:226307 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitat... |
ORPHA:505248 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Premature ventricular contraction, Heart block |
ORPHA:1964 |
| Familial Dysautonomia |
|
Tachycardia, Hypertension, Orthostatic hypotension |
ORPHA:1764 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Hypotension, Syncope |
ORPHA:98849 |
| Ogden Syndrome |
|
Torsade de pointes, Premature atrial contractions, Supraventricular tachycardia, Irritability, Mo... |
OMIM:300855 |
| Imerslund-Gräsbeck Syndrome |
|
Tachycardia |
ORPHA:35858 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pulmonic stenosis, Arrhythmia, Paroxysmal supraventricular tachycardia |
OMIM:617877 |
| Menkes Disease |
|
Hypothermia |
ORPHA:565 |
| Marburg Hemorrhagic Fever |
|
Hypotension, Subconjunctival hemorrhage, Shock, Anorexia, Capillary leak, Aggressive behavior, In... |
ORPHA:99826 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, HbH hemoglobin |
ORPHA:98791 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased adiponectin level, Abnormal atrioventricular conduction, Congestive heart failure, Hype... |
ORPHA:280365 |
| Renal Nutcracker Syndrome |
|
Tachycardia, Syncope, Orthostatic hypotension |
ORPHA:71273 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Decreased serum testosterone concentration, Streak ovary, Hypothyroidism, Delayed puberty, Prolon... |
ORPHA:1772 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Unexplained fevers, Abnormal emotion, Hypothermia, Recurrent fever |
ORPHA:642 |
| Occipital Horn Syndrome |
|
Hypothermia |
ORPHA:198 |
| Rh Deficiency Syndrome |
|
Tachycardia |
ORPHA:71275 |
| Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia |
OMIM:218700 |
| Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... |
ORPHA:98853 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Supraventricular arrhy... |
ORPHA:98855 |
| Neurotrophic Keratopathy |
|
Diabetes mellitus, Allodynia |
ORPHA:137596 |
| Plague |
|
Hypotension, Depression, Arrhythmia, Hematemesis, Anorexia, Tachycardia |
ORPHA:707 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Sarcoidosis |
|
Fever, Weight loss, Hypothermia |
ORPHA:797 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Supraventricular ... |
ORPHA:98863 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
| Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Pulmonary arterial hypertension, Tachycardia, Choking episodes, Pulmon... |
OMIM:619488 |
| Trigeminal Neuralgia |
|
Allodynia |
ORPHA:221091 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:260400 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Thymoma |
|
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypothermia |
ORPHA:438213 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Premature ventricular contraction |
OMIM:617072 |
| Pudendal Neuralgia |
|
Allodynia |
ORPHA:60039 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Ventricular bigeminy, Left bundle branch block |
OMIM:610131 |
| Lead Poisoning |
|
Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology |
ORPHA:330015 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia |
ORPHA:51890 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Ventricular arrhythmia |
OMIM:620475 |
| Truncus Arteriosus |
|
Aortic regurgitation, Abnormal heart valve physiology, Hypoplasia of the thymus, Adrenocortical a... |
ORPHA:3384 |
| Marfan Syndrome |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Attention deficit hyperacti... |
ORPHA:558 |
| Legius Syndrome |
|
Paroxysmal atrial tachycardia, Attention deficit hyperactivity disorder, Hyperactivity, Pulmonic ... |
ORPHA:137605 |
| Developmental And Epileptic Encephalopathy 111 |
|
Premature ventricular contraction, Hypertension, Sinus tachycardia |
OMIM:620504 |
| Benign Schwannoma |
|
Abnormality of the adrenal glands, Allodynia |
ORPHA:252164 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Spinal Cord Injury |
|
Allodynia |
ORPHA:90058 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Sh... |
OMIM:620066 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Aortic valve stenosis, Abnormal fear-induced behavior, Emotional labilit... |
ORPHA:353281 |
| Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Hypertension, Congestive heart failure |
OMIM:181270 |
| Cardiac-Urogenital Syndrome |
|
Tachycardia |
OMIM:618280 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Aortic valve stenosis, Abnormal fear-induced behavior, Emotional labilit... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Aortic valve stenosis, Abnormal fear-induced behavior, Emotional labilit... |
ORPHA:353277 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Arrhythmia, Histiocytoid cardiomyopathy |
OMIM:309801 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Right ventricular failure, Tricuspid regurgitation, Mitral regurgitation, Pulmonary arterial hype... |
ORPHA:99125 |
| Holt-Oram Syndrome |
|
Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Atrioventricular dissocia... |
OMIM:142900 |
| Marshall-Smith Syndrome |
|
Premature ventricular contraction, Pulmonary arterial hypertension, Hypertension |
OMIM:602535 |
| Alkaptonuria |
|
Methemoglobinemia, Hemolytic anemia |
ORPHA:56 |
| Orthostatic Intolerance |
|
|
OMIM:604715 |
