| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617182 |
| Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617173 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
| Trimethylaminuria |
|
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia |
OMIM:602079 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
| Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... |
OMIM:616201 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Arrhythmia, Bradycardia |
OMIM:614302 |
| Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... |
OMIM:140400 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
| Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
| Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
| Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia, Neutropenia |
OMIM:617248 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Paroxysmal atrial fibrill... |
OMIM:614022 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... |
OMIM:617222 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
| Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
| Sick Sinus Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... |
OMIM:163800 |
| Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
| Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... |
ORPHA:66529 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
| Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hypoglycemia, Bradycardia, Congestive heart failure |
OMIM:619048 |
| Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hypotension, Hypoglycemia, Ventricular tachycardia, Neonatal h... |
OMIM:212138 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Hypotension, Shock, Abnormal glucose homeostasis, Neutropenia, Thrombocytopenia, Hy... |
ORPHA:391673 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
| Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... |
ORPHA:168796 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the young, Ketotic hy... |
ORPHA:324575 |
| Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
| Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... |
OMIM:613980 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... |
OMIM:601494 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
| Atrial Standstill 2 |
|
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Cardiom... |
OMIM:615745 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... |
OMIM:614916 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:610021 |
| Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
| Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
| Brugada Syndrome 1 |
|
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Atrial Fibrillation, Familial, 15 |
|
Atrial fibrillation, Supraventricular tachycardia, Atrial flutter, Sudden cardiac death |
OMIM:615770 |
| Timothy Syndrome |
|
Hypoglycemia, Prolonged QT interval, Bradycardia |
OMIM:601005 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618815 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Palpitations, Tachycar... |
ORPHA:276580 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia, Neutropenia |
OMIM:616949 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Glucose intolerance, Impaired glucose tolerance, Atrioventricular block, Bradycardia |
OMIM:614407 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia, Orthostatic hypotension, Anemia |
OMIM:618182 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Shortened PR interval, Bradycardia, Neonatal hypoglycemia, Cardiomyopathy, Congestiv... |
OMIM:261740 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia |
ORPHA:542306 |
| Atrial Fibrillation, Familial, 4 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... |
OMIM:611493 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly |
OMIM:618394 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Ventricular fibrillation, Syncope |
OMIM:603829 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Cardiomyopathy |
OMIM:609016 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
| Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
OMIM:619924 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block |
OMIM:192605 |
| Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Palpitations, Tachycardia, Syncope, Reac... |
ORPHA:276556 |
| Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Hypotension, Bradycardia |
ORPHA:70587 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Paroxysmal atrial fibrillation, Ventricular tachycardia, Hypertrophic cardi... |
OMIM:612124 |
| Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Iron deficiency anemia, Ventricu... |
ORPHA:90647 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... |
ORPHA:444463 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Sudden cardiac death, Palpitations, Syncope, Ventricular tachycardia, A... |
OMIM:613838 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Reactive ... |
ORPHA:276608 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... |
OMIM:614954 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Palpitations, Tachycar... |
ORPHA:276575 |
| Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
| Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... |
OMIM:608758 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
| Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
| Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... |
ORPHA:330001 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Arrhythmia, Cardiomyopathy, Bradycardia |
OMIM:609286 |
| Acute Erythroid Leukemia |
|
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia |
ORPHA:318 |
| Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Raynaud phenomenon, Mitral regurgitation, Leukopenia, Autoimmune thrombocytopenia, H... |
OMIM:301080 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
| Brugada Syndrome 9 |
|
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval |
OMIM:616399 |
| Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Abno... |
ORPHA:98826 |
| Propionic Acidemia |
|
Hypoglycemia, Arrhythmia, Cardiomyopathy |
ORPHA:35 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
| Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... |
OMIM:612098 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
| Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
| Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
| Short Qt Syndrome 1 |
|
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... |
OMIM:609620 |
| Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... |
ORPHA:99105 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Thrombocytopenia, Hypertrophic cardiomyopathy, Normochromic anemia,... |
OMIM:618775 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Aapoaiv Amyloidosis |
|
Sinus bradycardia, Left bundle branch block, Left ventricular outflow tract obstruction, Hypertro... |
ORPHA:439232 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Epistaxis, Neutropenia |
OMIM:616216 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... |
OMIM:613251 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
| Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:277 |
| Brugada Syndrome 7 |
|
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... |
OMIM:619747 |
| Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, B lymphocytopenia, Decreased proportion ... |
OMIM:619705 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Thrombocytopenia, Cardiomyopathy |
ORPHA:67048 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... |
OMIM:619846 |
| Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Cardiomyopathy, Neutropenia |
OMIM:604250 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Splenomegaly, Tachycardia, Insulin resistance, Atrial fibrillation, Prolonged Q... |
OMIM:613327 |
| Sepsis In Premature Infants |
|
Leukocytosis, Splenomegaly, Tachycardia, Hypotension, Neutropenia, Anemia, Thrombocytopenia, Brad... |
ORPHA:90051 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia, Cerebral hemorrhage, Bradycardia |
OMIM:617397 |
| Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
| Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
| Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Lymphopenia, Diabetes mellitus |
OMIM:614162 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia |
ORPHA:40366 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
| Peripartum Cardiomyopathy |
|
Left bundle branch block, Abnormal T-wave, Sinus tachycardia, Mitral regurgitation, Right ventric... |
ORPHA:563 |
| D-Glyceric Aciduria |
|
Hypoglycemia, Bradycardia |
OMIM:220120 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
| Lujo Hemorrhagic Fever |
|
Lymphopenia, Leukocytosis, Leukopenia, Myocarditis, Hypotension, Shock, Subconjunctival hemorrhag... |
ORPHA:319213 |
| Cardiomyopathy, Dilated, 1Ii |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... |
ORPHA:216694 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypoglycemia, Pancytopenia |
OMIM:617872 |
| Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
| Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block |
OMIM:615616 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Palpitations, Sinus bradycardia, Second degree atrioventricular block, Syncope |
OMIM:616812 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Arrhythmia... |
ORPHA:85451 |
| Familial Thyroid Dyshormonogenesis |
|
Bradycardia |
ORPHA:95716 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Congestive heart failure, Splenomegaly |
ORPHA:90037 |
| Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
| Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Neonatal hypoglycemia, Bradycardia |
ORPHA:565624 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
| Marburg Hemorrhagic Fever |
|
Lymphopenia, Hypovolemia, Leukopenia, Tachycardia, Abnormal lymphocyte morphology, Pericarditis, ... |
ORPHA:99826 |
| Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Neutrophilia, Subdural hemorrhage, Hemothorax, Myocarditis, Pancytopenia,... |
ORPHA:99827 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia, Supravalvular aortic stenosis |
OMIM:618624 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
| Neuroleptic Malignant Syndrome |
|
Leukocytosis, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Thrombocytosis, Hypertens... |
ORPHA:94093 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Angina pectoris, Palpitations, Ventricular tachycardia, Atrial fibrillation, Hypertrophic cardiom... |
OMIM:613873 |
| Sneddon Syndrome |
|
Hypertension, Ischemic stroke, Lymphopenia, Cerebral hemorrhage |
OMIM:182410 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Premature ventricular contraction, Syncope |
OMIM:192445 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Tachycardia, Anisopoikilocytosis, Macrocytic anemia, Thrombocy... |
ORPHA:35858 |
| Relapsing Fever |
|
Neutrophilia, Leukocytosis, Leukopenia, Tachycardia, Hypotension, Anemia, Thrombocytopenia, Epist... |
ORPHA:91547 |
| Ataxia-Telangiectasia |
|
Telangiectasia of the skin, Type II diabetes mellitus, Mucosal telangiectasiae, Lymphopenia, Diab... |
ORPHA:100 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia, Palpitations, Tachycardia, Arrhythmia, Syncope |
ORPHA:464453 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
| Sheehan Syndrome |
|
Orthostatic hypotension, Palpitations, Hypoglycemia, Normochromic anemia, Bradycardia |
ORPHA:91355 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Lymphopenia |
OMIM:616744 |
| Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Epistaxis, Reticulocytop... |
ORPHA:88 |
| Glossopharyngeal Neuralgia |
|
Jaw claudication, Bradycardia, Syncope |
ORPHA:221098 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Leukopenia, Hypoglycemia, Neutropenia, Thrombocytopenia, Cardiomyopathy |
OMIM:251000 |
| Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Paroxysmal supraventricular tachycardia, Bradycardia |
OMIM:601375 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... |
OMIM:611878 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypoglycemia, Sudden cardiac death, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:156 |
| Coronary Arterial Fistula |
|
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... |
ORPHA:2041 |
| Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... |
OMIM:619510 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia |
OMIM:152800 |
| Immunodeficiency 36 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... |
OMIM:616005 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Tachycardia, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Congestive he... |
ORPHA:90033 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly |
ORPHA:664 |
| Yellow Fever |
|
Supraventricular arrhythmia, Neutrophilia, Leukocytosis, Hematemesis, Shock, Reduced left ventric... |
ORPHA:99829 |
| Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Hypertension |
OMIM:615962 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... |
OMIM:262190 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... |
ORPHA:486 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... |
ORPHA:75565 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Hypertension, Tachycardia, Retinal hemorrhage, Bradycardia |
OMIM:614653 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Glycosuri... |
ORPHA:263455 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... |
ORPHA:331206 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia |
OMIM:619767 |
| Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia, Hypoglycemia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Congestive h... |
OMIM:611126 |
| Macrocephaly/Autism Syndrome |
|
Lymphopenia, Splenomegaly |
OMIM:605309 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Tricuspid regurgitation, Leukopenia, B lymphocytopenia, Noncompaction cardiomyopathy... |
ORPHA:508542 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia |
ORPHA:90673 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Orthostatic hypotension, Syncope, Orthostatic syncope, Hypoglycemia, Abnormal E... |
ORPHA:230 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia |
OMIM:619752 |
| Proximal Spinal Muscular Atrophy |
|
Bradycardia |
ORPHA:70 |
| Pgm3-Cdg |
|
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... |
ORPHA:443811 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia |
ORPHA:1116 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia |
ORPHA:90036 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Lymphopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly |
ORPHA:169160 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia |
OMIM:188580 |
| Stiff-Person Syndrome |
|
Hypertension, Anemia, Tachycardia, Diabetes mellitus |
OMIM:184850 |
| Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Premature ventricular contraction, Palpitations, Tachycardia, Insulin ... |
OMIM:602668 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Rh Deficiency Syndrome |
|
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia, Macrocytic anemia, Hem... |
ORPHA:71275 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... |
ORPHA:1329 |
| Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
| Nephrotic Syndrome, Type 14 |
|
Hypoglycemia, Lymphopenia |
OMIM:617575 |
| Cyclic Neutropenia |
|
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation |
OMIM:261990 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... |
ORPHA:276 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... |
ORPHA:760 |
| Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Lymphopenia, Cerebral ischemia, Thrombocytopenia, Pancytopenia, Pulmon... |
OMIM:242900 |
| Wiskott-Aldrich Syndrome |
|
Lymphopenia, Abnormal eosinophil morphology, Hematemesis, Recurrent intrapulmonary hemorrhage, Hy... |
ORPHA:906 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171420 |
| Mirage Syndrome |
|
Lymphopenia, Leukopenia, Intracranial hemorrhage, Hypoglycemia, Hypoplastic spleen, Anemia, Throm... |
OMIM:617053 |
| Legionnaires Disease |
|
Lymphopenia, Splenomegaly, Arrhythmia, Myocarditis, Hypotension, Pericarditis |
ORPHA:549 |
| Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Lymphopenia, Abnormal proportion of naive CD4 T cells, Cerebral ischem... |
ORPHA:1830 |
| Ebola Hemorrhagic Fever |
|
Melena, Lymphopenia, Leukopenia, Gastrointestinal hemorrhage, Thrombocytopenia |
ORPHA:319218 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Cerebral vasculi... |
OMIM:613179 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia |
ORPHA:90674 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... |
OMIM:602450 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Tachycardia |
OMIM:229700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Hemolytic anemia, Perianal abscess, Granu... |
OMIM:618935 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope... |
OMIM:600802 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Tachycardia, Junctional ectopic tac... |
ORPHA:137675 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Paragangliomas 3 |
|
Hypertension associated with pheochromocytoma, Tachycardia, Palpitations |
OMIM:605373 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Tachycardia, Arrhythmia, Dilated cardiomyopathy, Ventricular tachycardi... |
ORPHA:26793 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Raynaud phenomenon, Anemia, Leukopenia, Thrombocytosis, Telangiectasia |
OMIM:615934 |
| Immunodeficiency 55 |
|
Neutropenia, Lymphopenia, Absent natural killer cells |
OMIM:617827 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Splenomegaly, Pulmonic stenosis, Mitral regurgitation, Hypoplasia of the thymus, Mon... |
OMIM:612541 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Lymphopenia, Leukocytosis, Splenomegaly, Raynaud phenomenon, Hepatosplenomegaly, Leukopenia, Vasc... |
OMIM:615688 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypoglycemia, Bradycardia |
ORPHA:226307 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Hematochezia, Thrombocytosis, Impaired lymph... |
OMIM:243150 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly |
OMIM:616100 |
| Icf Syndrome |
|
Abnormality of neutrophils, Anemia, Lymphopenia |
ORPHA:2268 |
| Bohring-Opitz Syndrome |
|
Bradycardia |
ORPHA:97297 |
| Immunodeficiency 23 |
|
Lymphopenia, Vasculitis in the skin, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia |
OMIM:615816 |
| Wiskott-Aldrich Syndrome |
|
Melena, Lymphopenia, Hematemesis, Eosinophilia, Absent microvilli on the surface of peripheral bl... |
OMIM:301000 |
| Avian Influenza |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Congestive heart failure |
ORPHA:454836 |
| Popov-Chang syndrome |
|
Pulmonic stenosis, Hypertension, Lymphopenia |
OMIM:618428 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
ORPHA:35078 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... |
OMIM:600903 |
| Ataxia-Telangiectasia |
|
Glucose intolerance, Lymphopenia, Hypoplasia of the thymus, Conjunctival telangiectasia, T lympho... |
OMIM:208900 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Anemia, Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune... |
ORPHA:391487 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia |
OMIM:218700 |
| Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... |
ORPHA:3261 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinophilia, Autoimm... |
OMIM:102700 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Dilated cardiomyopathy, Diabetes mellitus, Insulin resistance, Anemia |
OMIM:616541 |
| Carney Triad |
|
Tachycardia, Arrhythmia, Gastrointestinal hemorrhage, Anemia, Hypertension |
ORPHA:139411 |
| Scorpion Envenomation |
|
Bundle branch block, Premature ventricular contraction, ST segment depression, Tachycardia, Arrhy... |
ORPHA:466677 |
| Cartilage-Hair Hypoplasia |
|
Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte transformation... |
OMIM:250250 |
| Common Variable Immunodeficiency |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Vasculitis, Hemolytic anemia |
ORPHA:1572 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphopenia, Raynaud phenomenon, Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia |
OMIM:607944 |
| Primary Intestinal Lymphangiectasia |
|
Anemia, Lymphopenia, Decreased proportion of CD3-positive T cells, Reduced proportion of CD4+ eff... |
ORPHA:90362 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Anemia, Thrombocytopenia, Aplastic anemia, Lymphopenia |
OMIM:127550 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Thrombocytopenia, Lymphopenia, Splenomegaly |
OMIM:617591 |
| Immunodeficiency 87 And Autoimmunity |
|
Lymphopenia, Thrombocytopenia, Hemolytic anemia, Pulmonary arterial hypertension, Third degree at... |
OMIM:619573 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Lymphopenia |
ORPHA:935 |
| Cushing Disease |
|
Lymphopenia, Leukocytosis, Impaired glucose tolerance, Myocardial infarction, Diabetes mellitus, ... |
ORPHA:96253 |
| Whim Syndrome |
|
Lymphopenia, Abnormality of neutrophil morphology, Neutropenia |
ORPHA:51636 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia |
OMIM:619482 |
