| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation |
OMIM:617280 |
| Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Syncope, Bradycardia, Ventricular tachycardia |
OMIM:611938 |
| Trimethylaminuria |
|
Neutropenia, Hypertension, Tachycardia, Anemia, Splenomegaly |
OMIM:602079 |
| Long Qt Syndrome 15 |
|
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval |
OMIM:616249 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Familial Short Qt Syndrome |
|
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... |
ORPHA:51083 |
| Progressive Familial Heart Block, Type Ib |
|
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans |
OMIM:618782 |
| Atrial Standstill |
|
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... |
ORPHA:1344 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Short Qt Syndrome 2 |
|
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... |
OMIM:609621 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... |
OMIM:616201 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... |
OMIM:616117 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Brugada Syndrome |
|
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... |
ORPHA:130 |
| Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
| Long Qt Syndrome 14 |
|
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... |
OMIM:616247 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... |
ORPHA:521 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope |
OMIM:600919 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... |
OMIM:140400 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Myelolymphatic Insufficiency |
|
Hyposegmentation of neutrophil nuclei, Leukopenia |
OMIM:310350 |
| Sick Sinus Syndrome 1 |
|
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... |
OMIM:608567 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia, Neutropenia |
OMIM:617248 |
| Long Qt Syndrome 13 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... |
OMIM:613485 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Long Qt Syndrome 9 |
|
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest |
OMIM:611818 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... |
OMIM:601419 |
| Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... |
ORPHA:45453 |
| Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... |
OMIM:615897 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... |
OMIM:611528 |
| Tako-Tsubo Cardiomyopathy |
|
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... |
ORPHA:66529 |
| Romano-Ward Syndrome |
|
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... |
ORPHA:101016 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... |
OMIM:604772 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
| Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Palpitations, Fasting hypoglycemia, Maternal diabetes, Hyperinsulinemic hy... |
ORPHA:324575 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... |
OMIM:600858 |
| Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis |
OMIM:617222 |
| Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia,... |
ORPHA:90064 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... |
OMIM:604400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Bradycardia, Hypoglycemia |
OMIM:619048 |
| Idiopathic Neonatal Atrial Flutter |
|
Reduced ejection fraction, Arrhythmia, Maternal diabetes, Paroxysmal supraventricular tachycardia... |
ORPHA:45452 |
| Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus |
OMIM:267500 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Necrotizing Enterocolitis |
|
Hypotension, Leukocytosis, Neutropenia, Thrombocytopenia, Shock, Hyperglycemia, Bradycardia, Abno... |
ORPHA:391673 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Bradycardia, Hypertrophic cardiomyopathy |
OMIM:616276 |
| Cardiomyopathy, Dilated, 1E |
|
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... |
OMIM:601154 |
| Heart-Hand Syndrome, Slovenian Type |
|
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... |
ORPHA:168796 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Neonatal hypoglycemia, Hypotension, Ventricular extrasystoles, Hypoglycemia, Ventricular tachycar... |
OMIM:212138 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Syncope, Ventricular tachycardia |
ORPHA:3286 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Syncope, Cardiac arrest, Ventricular tachycardia |
OMIM:614916 |
| Brugada Syndrome 1 |
|
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... |
OMIM:601144 |
| Pancytopenia And Occlusive Vascular Disease |
|
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia |
OMIM:167850 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoglycemic seizures, Palpitations, Fasting hypoglycemia, Maternal diabetes, Hyperinsulinemic hy... |
ORPHA:276580 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... |
OMIM:604145 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloid leukemia, Hypotension, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Throm... |
ORPHA:98849 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Syncope, Prolonged QT interval, Ventricular tachycardia |
OMIM:614021 |
| Atrial Standstill 2 |
|
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... |
OMIM:615745 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... |
OMIM:614172 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... |
OMIM:615441 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia |
OMIM:610021 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Ventricular fibrillation, Tachycardia, Syncope |
OMIM:603829 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... |
OMIM:610193 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618815 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia |
OMIM:612124 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoglycemic seizures, Palpitations, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Syn... |
ORPHA:276556 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Hemochromatosis, Type 4 |
|
Arrhythmia, Glucose intolerance, Impaired glucose tolerance, Anemia, Cardiomyopathy |
OMIM:606069 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... |
ORPHA:263458 |
| Timothy Syndrome |
|
Bradycardia, Prolonged QT interval, Hypoglycemia |
OMIM:601005 |
| Atrial Fibrillation, Familial, 1 |
|
Tachycardia, Atrial fibrillation |
OMIM:608583 |
| Atrial Fibrillation, Familial, 3 |
|
Tachycardia, Atrial fibrillation |
OMIM:607554 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... |
ORPHA:276608 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoglycemic seizures, Palpitations, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperin... |
ORPHA:276575 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia |
OMIM:192605 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia |
OMIM:615285 |
| Long Qt Syndrome 10 |
|
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... |
OMIM:611819 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... |
OMIM:163800 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu... |
OMIM:614954 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia, Neutropenia |
OMIM:616949 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia, Hypotension, Congestive heart failure, Shortened PR interval, Bradycardia,... |
OMIM:261740 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Bradycardia |
ORPHA:542306 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Impaired glucose tolerance, Bradycardia, Glucose intolerance |
OMIM:614407 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... |
OMIM:607450 |
| Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia |
ORPHA:169079 |
| Immunodeficiency 60 |
|
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly |
OMIM:618394 |
| Atrial Fibrillation, Familial, 4 |
|
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... |
OMIM:611493 |
| Wolff-Parkinson-White Syndrome |
|
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... |
OMIM:194200 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Cardiomyopathy |
OMIM:609016 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... |
OMIM:608758 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... |
OMIM:202700 |
| Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... |
ORPHA:444463 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Tachycardia, Cardiac arrest, Bradycardia |
ORPHA:70587 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... |
OMIM:618920 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Wild Type Attr Amyloidosis |
|
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... |
ORPHA:330001 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia, Cerebral hemorrhage, Bradycardia |
OMIM:617397 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Bradycardia, Cardiomyopathy, Diabetes mellitus |
OMIM:609286 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr... |
ORPHA:99105 |
| Brugada Syndrome 3 |
|
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... |
OMIM:611875 |
| Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Anemia |
ORPHA:318 |
| Brugada Syndrome 9 |
|
Palpitations, Presyncope, ST segment elevation |
OMIM:616399 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Long Qt Syndrome 2 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:613688 |
| Long Qt Syndrome 6 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:613693 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:613695 |
| Long Qt Syndrome 3 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:603830 |
| Short Qt Syndrome 1 |
|
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... |
OMIM:609620 |
| Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
| Refractory Anemia |
|
Erythroid hypoplasia, Abnormal cardiac ventricular function, Neutropenia, Normocytic anemia, Thro... |
ORPHA:98826 |
| Immunodeficiency 76 |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
| Propionic Acidemia |
|
Arrhythmia, Hypoglycemia, Cardiomyopathy |
ORPHA:35 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Immunodeficiency 13 |
|
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... |
OMIM:615518 |
| Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia, Arrhythmia, Ventricular fibrillation, Prolonged QTc interval, Torsade de ... |
ORPHA:90647 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Insulin resistance, Atrial fibrillation, Tachycardia, Prolonged QT interval, Sp... |
OMIM:613327 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachyca... |
OMIM:613838 |
| Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... |
OMIM:617514 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
| Thrombocytopenia 5 |
|
Thrombocytopenia, Anemia, Epistaxis, Neutropenia |
OMIM:616216 |
| Transcobalamin Deficiency |
|
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia |
ORPHA:859 |
| Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
| Hemochromatosis, Type 3 |
|
Lymphopenia, Anemia, Neutropenia, Cardiomyopathy |
OMIM:604250 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... |
ORPHA:75564 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia |
OMIM:611878 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, T lymphocytopenia, Lymphopenia, B lymphocytopenia |
ORPHA:277 |
| Aapoaiv Amyloidosis |
|
Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atrial flutter, Atrial fib... |
ORPHA:439232 |
| Peripartum Cardiomyopathy |
|
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... |
ORPHA:563 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Normochromic anemia, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618775 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Bundle branch block, Ventricular tachycardia |
OMIM:615616 |
| Coproporphyria, Hereditary |
|
Tachycardia, Hypertension, Splenomegaly |
OMIM:121300 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia, Hypoglycemia, Cardiomyopathy |
ORPHA:67048 |
| Hydroxykynureninuria |
|
Hypotension, Tachycardia |
OMIM:236800 |
| Sepsis In Premature Infants |
|
Hypotension, Leukocytosis, Neutropenia, Thrombocytopenia, Tachycardia, Anemia, Splenomegaly, Brad... |
ORPHA:90051 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... |
ORPHA:300751 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia, Cardiac arrest, Dilate... |
OMIM:612158 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... |
OMIM:619041 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia, Hypoplasia of the thymus |
ORPHA:40366 |
| Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Lymphopenia, Diabetes mellitus |
OMIM:614162 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Cardiomyopathy, Ventricular tachycardia |
OMIM:613873 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Familial Dilated Cardiomyopathy |
|
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... |
ORPHA:217607 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Congestive heart failure, Tachycardia, Splenomegaly |
ORPHA:90037 |
| Tetanus |
|
Tachycardia, Hypertension, Bradycardia |
ORPHA:3299 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Palpitations, Atrioventricular block, Sinus bradycardia, Syncope |
OMIM:616812 |
| Brugada Syndrome 6 |
|
Ventricular fibrillation, Cardiac arrest, ST segment elevation |
OMIM:613119 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval |
OMIM:612240 |
| Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
| Adult Idiopathic Neutropenia |
|
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia |
ORPHA:2688 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Hypoglycemia |
OMIM:617872 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Premature atrial contractions, Cardiac conduction abnormality, Supraventricular tachycardia with ... |
ORPHA:216694 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Ventricular extrasystoles, Tachycardia, Syncope |
OMIM:192445 |
| Familial Thyroid Dyshormonogenesis |
|
Bradycardia |
ORPHA:95716 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... |
OMIM:618986 |
| Acquired Methemoglobinemia |
|
Palpitations, Arrhythmia, Tachycardia, Methemoglobinemia, Syncope |
ORPHA:464453 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment |
ORPHA:1055 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... |
ORPHA:169154 |
| Relapsing Fever |
|
Hypotension, Leukocytosis, Epistaxis, Thrombocytopenia, Tachycardia, Anemia, Leukopenia, Neutroph... |
ORPHA:91547 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:231154 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia, Neonatal hypoglycemia |
ORPHA:565624 |
| Neuroleptic Malignant Syndrome |
|
Arrhythmia, Thrombocytosis, Hypotension, Leukocytosis, Hypertensive crisis, Hypertension, Thrombo... |
ORPHA:94093 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... |
ORPHA:263297 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Bradycardia |
OMIM:614653 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... |
OMIM:617780 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Congestive heart failure, Tachycardia, S... |
ORPHA:90033 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume |
OMIM:618849 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... |
OMIM:108950 |
| Myotonic Dystrophy 2 |
|
Palpitations, Diabetes mellitus, Tachycardia, Insulin insensitivity |
OMIM:602668 |
| Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Hypoglycemia, Normochromic anemia, Bradycardia |
ORPHA:91355 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Telangiectasia of the skin, Mucosal telangiectasiae, Type II diabetes mellitus, Diab... |
ORPHA:100 |
| Noonan Syndrome 12 |
|
Supravalvular aortic stenosis, Thrombocytopenia, Lymphopenia |
OMIM:618624 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia, Orthostatic hypotension |
OMIM:618182 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Thrombocytopenia, Lymphopenia, Hemolytic anemia |
OMIM:616744 |
| Glossopharyngeal Neuralgia |
|
Bradycardia, Jaw claudication, Syncope |
ORPHA:221098 |
| Idiopathic Aplastic Anemia |
|
Epistaxis, Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Retinal hemorr... |
ORPHA:88 |
| Tularemia |
|
Cutaneous abscess, Leukocytosis, Thrombocytopenia, Tachycardia, Anemia, Brain abscess |
ORPHA:3392 |
| Snakebite Envenomation |
|
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Epistaxis, Thrombocytopenia, Myocardial ... |
ORPHA:449285 |
| Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension |
OMIM:615378 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
| Brugada Syndrome 5 |
|
Ventricular fibrillation, Bundle branch block, ST segment elevation |
OMIM:612838 |
| Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Bradycardia, Paroxysmal supraventricular tachycardia |
OMIM:601375 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp... |
ORPHA:263455 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia |
OMIM:152800 |
| Tropical Endomyocardial Fibrosis |
|
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Eosinophilia, Cardiogenic ... |
ORPHA:75565 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... |
OMIM:300835 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Pulmonic s... |
OMIM:612541 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Sudden cardiac death, Arrhythmia, Hypoglycemia, Hypertrophic cardiomyopathy |
ORPHA:156 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypoglycemia, Thrombocytopenia, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic ca... |
OMIM:611126 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Ventricular tachycardia |
OMIM:600649 |
| Naxos Disease |
|
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... |
OMIM:601214 |
| Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Hypertension |
OMIM:615962 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Congestive heart failure, Ventricular tachycardia |
OMIM:605676 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Palpitations, Tachycardia |
OMIM:613239 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... |
OMIM:262190 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly |
ORPHA:664 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia |
OMIM:188580 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... |
ORPHA:486 |
| Stiff-Person Syndrome |
|
Diabetes mellitus, Tachycardia, Anemia, Hypertension |
OMIM:184850 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia |
ORPHA:90036 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hypoglycemia, Sudden cardiac death, Tachycardia, Dilated cardiomyopathy, Aborted sudden cardiac d... |
OMIM:614921 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... |
ORPHA:99103 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... |
ORPHA:331206 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... |
OMIM:171420 |
| Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnormal atriov... |
ORPHA:1329 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... |
OMIM:600996 |
| Macrocephaly/Autism Syndrome |
|
Lymphopenia, Splenomegaly |
OMIM:605309 |
| Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Neutropenia, Hypertension, Thrombocytopenia, Abnormal T cell morphology, Cerebral is... |
OMIM:242900 |
| Cardiogenic Shock |
|
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... |
ORPHA:97292 |
| Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
| Immunodeficiency 36 |
|
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly |
OMIM:616005 |
| Paragangliomas 3 |
|
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma |
OMIM:605373 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia |
ORPHA:90673 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Orthostatic hypotension, Insulin resistance, Hypoglycemia, Orthostatic syncope,... |
ORPHA:230 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Lymphopenia, Neutropenia, Tricuspid regurgitation, Reticulocytopeni... |
ORPHA:508542 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia |
ORPHA:1116 |
| Pgm3-Cdg |
|
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Vasculitis in the... |
ORPHA:443811 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Hypoglycemia, Ventricular ta... |
ORPHA:137675 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Proximal Spinal Muscular Atrophy |
|
Bradycardia |
ORPHA:70 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Hypoglycemia |
OMIM:229700 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia |
OMIM:300952 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Arrhythmia, Hypoketotic hypoglycemia, Ventricular tachycardia, Atrioventricular block, Ventricula... |
ORPHA:26793 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Tachycardia, Syncope |
OMIM:615821 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia |
ORPHA:169160 |
| Immunodeficiency 49 |
|
Lymphopenia, Eosinophilia |
OMIM:617237 |
| Paragangliomas 1 |
|
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma |
OMIM:168000 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T ... |
ORPHA:760 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Lymphopenia, Aplasia of the thymus, Hepatosplenomegaly |
OMIM:242700 |
| Nephrotic Syndrome, Type 14 |
|
Lymphopenia, Hypoglycemia |
OMIM:617575 |
| Cyclic Neutropenia |
|
Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli... |
ORPHA:2686 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... |
ORPHA:276 |
| Mirage Syndrome |
|
Intracranial hemorrhage, Lymphopenia, Hypoglycemia, Thrombocytopenia, Leukopenia, Anemia, Hypopla... |
OMIM:617053 |
| Schimke Immuno-Osseous Dysplasia |
|
Ischemic stroke, Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of n... |
ORPHA:1830 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Fasting hypoglycemia, Arrhythmia, Hypotension, Hypoketotic hypoglycemia, Ventricular tachycardia,... |
ORPHA:159 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia |
ORPHA:90674 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neu... |
OMIM:613179 |
| Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, T lymphocytopenia, Glucose intolerance, Decreased proportion of CD4-... |
OMIM:208900 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Lymphopenia, Impaired oxidative burst, Granuloma, Perianal abscess, Splenomegal... |
OMIM:618935 |
| Legionnaires Disease |
|
Arrhythmia, Pericarditis, Hypotension, Lymphopenia, Splenomegaly, Myocarditis |
ORPHA:549 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation |
OMIM:261990 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Tachycardia |
OMIM:145600 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Hypertension |
OMIM:613870 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Reduced ejection fraction, Arrhythmia, Hypotension, Tachycardia, Heart block, Capillary leak |
ORPHA:542323 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
T lymphocytopenia, Lymphopenia, Absent natural killer cells, Impaired lymphocyte transformation w... |
OMIM:600802 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Lymphopenia, Leukopenia, Anemia, Telangiectasia, Raynaud phenomenon |
OMIM:615934 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Fasting hypoglycemia, Tachycardia, Neonatal hypoglycemia, Hypoglycemia |
ORPHA:348 |
| Wiskott-Aldrich Syndrome |
|
Iron deficiency anemia, Decreased mean platelet volume, Small vessel vasculitis, Decreased propor... |
OMIM:301000 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... |
OMIM:102700 |
| Scorpion Envenomation |
|
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, T-wave invers... |
ORPHA:466677 |
| Congenital Fibrinogen Deficiency |
|
Splenic rupture, Tachycardia, Internal hemorrhage |
ORPHA:335 |
| Carney Triad |
|
Arrhythmia, Gastrointestinal hemorrhage, Hypertension, Tachycardia, Anemia |
ORPHA:139411 |
| Wiskott-Aldrich Syndrome |
|
Arrhythmia, Hemolytic anemia, Chronic leukemia, Internal hemorrhage, Hematemesis, Intracranial he... |
ORPHA:906 |
| Hydroxykynureninuria |
|
Hypotension, Tachycardia |
ORPHA:79155 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Thrombocytosis, Leukocytosis, Lymphopenia, Hypertension, Pancytopenia, Splenomegaly, Type I diabe... |
OMIM:615688 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Bradycardia, Hypoglycemia |
ORPHA:226307 |
| Icf Syndrome |
|
Abnormality of neutrophils, Lymphopenia, Anemia |
ORPHA:2268 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypoglycemia, Ventricular tachycardia, Ventricular fibrillation, Cardiac arrest, Prolonged QTc in... |
OMIM:616878 |
| Bohring-Opitz Syndrome |
|
Bradycardia |
ORPHA:97297 |
| Bacterial Toxic-Shock Syndrome |
|
Abscess, Hypotension, Increased circulating metamyelocyte count, Thrombocytopenia, Tachycardia, I... |
ORPHA:36234 |
| Autoimmune Lymphoproliferative Syndrome, Type V |
|
Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly |
OMIM:616100 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia |
ORPHA:79264 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Iron deficiency anemia, Decreased mean platelet volume, Small vessel vasculitis, Hemolytic anemia... |
OMIM:600903 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Vasculitis in the skin, Lymphopenia, Neutropenia, Abscess, Eosinophilia |
OMIM:615816 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Congenital hypoplastic a... |
OMIM:250250 |
| Popov-Chang syndrome |
|
Pulmonic stenosis, Lymphopenia, Hypertension |
OMIM:618428 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia |
ORPHA:391307 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation w... |
ORPHA:35078 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia |
OMIM:218700 |
| Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Bradycardia, Anemia |
ORPHA:79404 |
| Pediatric Systemic Lupus Erythematosus |
|
Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia, Leukopenia, Raynaud phenomenon |
ORPHA:93552 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Tachycardia, Hypertrophic cardiomyopathy |
ORPHA:368 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune thrombocytopenia, Renovascular hypertension, Autoimmune hemolytic anemia, Lymphopenia,... |
ORPHA:391487 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure, Tachycardia, Leukopenia, Ane... |
ORPHA:505248 |
| Renal Nutcracker Syndrome |
|
Anemia, Tachycardia, Orthostatic hypotension, Syncope |
ORPHA:71273 |
| Avian Influenza |
|
Thrombocytopenia, Lymphopenia, Congestive heart failure, Leukopenia |
ORPHA:454836 |
| Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... |
ORPHA:3261 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Lymphopenia, Anemia, Dilated cardiomyopathy, Diabetes mellitus |
OMIM:616541 |
| Pheochromocytoma |
|
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... |
OMIM:171300 |
| Hereditary Coproporphyria |
|
Tachycardia |
ORPHA:79273 |
| Mercury Poisoning |
|
Hypotension, Tachycardia, Hypertension |
ORPHA:330021 |
| Cocaine Intoxication |
|
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... |
ORPHA:90068 |
| Porphyria Variegata |
|
Anemia, Tachycardia, Hypertension |
ORPHA:79473 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Splenomegaly, Vasculitis |
ORPHA:1572 |
| Eisenmenger Syndrome |
|
Ventricular arrhythmia, Tricuspid regurgitation, Pulmonary arterial hypertension, Syncope, Iron d... |
ORPHA:97214 |
| Cholera |
|
Hypotension, Tachycardia, Hypoglycemia, Hypovolemic shock |
ORPHA:173 |
| Secondary Intestinal Lymphangiectasia |
|
Lymphopenia |
ORPHA:90363 |
| Graft Versus Host Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Tachycardia |
ORPHA:39812 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Autoimmune thrombocytopenia, Lymphopenia, Neutropenia, Raynaud phenomenon |
OMIM:607944 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Thrombocytopenia, Lymphopenia, Aplastic anemia, Anemia |
OMIM:127550 |
| Ethylene Glycol Poisoning |
|
Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Tachycardia, Prolonged ... |
ORPHA:31826 |
| Double Outlet Right Ventricle |
|
Pulmonic stenosis, Heart murmur, Tachycardia |
ORPHA:3426 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Thrombocytopenia, Lymphopenia, Anemia, Splenomegaly |
OMIM:617591 |
| Porphyria, Acute Intermittent |
|
Tachycardia, Hypertension |
OMIM:176000 |
| Paragangliomas 4 |
|
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma |
OMIM:115310 |
| Serotonin Syndrome |
|
Hypotension, Tachycardia, Hypertension |
ORPHA:43116 |
| 16P12.1P12.3 Triplication Syndrome |
|
Tachycardia |
ORPHA:485405 |
| Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, Ventricular extrasystoles, Ventricular tachycardia, High-output con... |
ORPHA:423 |
| Fusariosis |
|
Lung abscess, Lymphopenia, Granuloma, Neutropenia, Abnormality of the spleen, Brain abscess |
ORPHA:228119 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Anemia |
ORPHA:935 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Tachycardia, Orthostatic hypotension |
OMIM:223900 |
| Primary Intestinal Lymphangiectasia |
|
Iron deficiency anemia, Lymphopenia |
ORPHA:90362 |
| Familial Dysautonomia |
|
Hypertension, Tachycardia, Orthostatic hypotension |
ORPHA:1764 |
| Whim Syndrome |
|
Lymphopenia, Abnormality of neutrophil morphology, Neutropenia |
ORPHA:51636 |
| Syndromic Diarrhea |
|
Thrombocytosis, Aortic regurgitation, Lymphopenia, Increased mean platelet volume, Hypoplasia of ... |
ORPHA:84064 |
| Primary Sjögren Syndrome |
|
Arteritis, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Normocytic anemia, T... |
ORPHA:289390 |
| Acute Intermittent Porphyria |
|
Tachycardia, Hypertension |
ORPHA:79276 |
| Mirizzi Syndrome |
|
Tachycardia |
ORPHA:521219 |
| Truncus Arteriosus |
|
Aortic regurgitation, Abnormal heart valve physiology, Hypoplasia of the thymus, Pulmonic stenosi... |
ORPHA:3384 |
| Plague |
|
Arrhythmia, Hematemesis, Hypotension, Tachycardia, Splenomegaly |
ORPHA:707 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Tachycardia, Prolonged QT interval |
ORPHA:1772 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Right ventricular failure, Tricuspid regurgitation, Tachycardia, Pulmonary arterial hypertension,... |
ORPHA:99125 |
