Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... |
OMIM:615897 |
Trimethylaminuria |
|
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly |
OMIM:602079 |
Immunodeficiency 110 With Lymphoproliferation |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia |
OMIM:247800 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphati... |
ORPHA:98849 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Anemia, Hypoglycemia |
OMIM:618182 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count |
OMIM:618394 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
Acute Erythroid Leukemia |
|
Erythroid hypoplasia, Leukopenia, Anemia, Pancytopenia |
ORPHA:318 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenome... |
ORPHA:444463 |
Long Qt Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Maternal ... |
ORPHA:45452 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia |
OMIM:619164 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... |
OMIM:616201 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia |
OMIM:615715 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
X-Linked Severe Congenital Neutropenia |
|
Neutropenia, Monocytopenia |
ORPHA:86788 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... |
OMIM:617514 |
Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
Transcobalamin Deficiency |
|
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia |
ORPHA:859 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... |
OMIM:115200 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:615285 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Raynaud phenomenon, Lymphopenia, Autoimmune thrombocytopenia, Hypertensive crisis, Mi... |
OMIM:301080 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... |
OMIM:163800 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Thrombocytopenia 5 |
|
Epistaxis, Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... |
OMIM:614022 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Hemochromatosis, Type 3 |
|
Anemia, Neutropenia, Lymphopenia, Cardiomyopathy |
OMIM:604250 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Necrotizing Enterocolitis |
|
Hypotension, Abnormal glucose homeostasis, Shock, Leukocytosis, Hyperglycemia, Thrombocytopenia, ... |
ORPHA:391673 |
Propionic Acidemia |
|
Cardiomyopathy, Hypoglycemia, Arrhythmia |
ORPHA:35 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... |
OMIM:617222 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiac arrest, Neonatal hypoglycemia, Premature ventricular contraction, Hypoglycem... |
OMIM:212138 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
B lymphocytopenia, Wolff-Parkinson-White syndrome, Absent circulating B cells, Hypertrophic cardi... |
OMIM:619705 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Pulmonary insufficiency, T lymphocytopenia, B lymphocytopenia |
ORPHA:277 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hypoglycemia, Bradycardia, Congestive heart failure |
OMIM:619048 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... |
OMIM:601494 |
Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... |
OMIM:611875 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... |
OMIM:618986 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... |
ORPHA:66529 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic anemia, Hypersegmenta... |
OMIM:617780 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome |
OMIM:617182 |
Noonan Syndrome 12 |
|
Supravalvular aortic stenosis, Thrombocytopenia, Lymphopenia |
OMIM:618624 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
Atrial Standstill 2 |
|
Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wave, Bradyca... |
OMIM:615745 |
Sneddon Syndrome |
|
Hypertension, Cerebral hemorrhage, Ischemic stroke, Lymphopenia |
OMIM:182410 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
Ataxia-Telangiectasia |
|
Mucosal telangiectasiae, Type II diabetes mellitus, Lymphopenia, Diabetes mellitus, Telangiectasi... |
ORPHA:100 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly |
ORPHA:664 |
Timothy Syndrome |
|
Hypoglycemia, Bradycardia, Prolonged QT interval |
OMIM:601005 |
Lymphangiectasia, Intestinal |
|
Lymphopenia |
OMIM:152800 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... |
OMIM:619510 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr... |
OMIM:616005 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Bradycardia, Glucose intolerance, Impaired glucose tolerance |
OMIM:614407 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Leukopenia, Hypoglycemia, Thrombocytopenia, Neutropenia, Cardiomyopathy |
OMIM:251000 |
Cln3 Disease |
|
T-wave inversion, Bradycardia, Vacuolated lymphocytes |
ORPHA:228346 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... |
ORPHA:486 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Epistaxis, Thrombocytopenia, Neutrop... |
ORPHA:88 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy |
OMIM:618815 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Lymphopenia |
OMIM:619767 |
Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Neonatal hypoglyc... |
OMIM:261740 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Hypoglycemia, Bradycardia |
OMIM:614702 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... |
OMIM:242700 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... |
ORPHA:331206 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome |
ORPHA:542306 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... |
OMIM:300835 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... |
ORPHA:330001 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... |
ORPHA:439232 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia |
OMIM:619752 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Bradycardia, Tachycardia |
ORPHA:70587 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia |
ORPHA:1116 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Diabetes mellitus, Bradycardia, Arrhythmia |
OMIM:609286 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly |
ORPHA:169160 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... |
ORPHA:75565 |
Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Noncompaction cardiomyopathy, Lymphopen... |
ORPHA:508542 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Hypertrophic cardiomyopathy, Thrombocytopenia, Bradycardia, Normoch... |
OMIM:618775 |
Cyclic Neutropenia |
|
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... |
ORPHA:2686 |
Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Hyperinsulinemia, Abnormal EKG, Syncope, Insulin resistance, Hypoglycemia, Orthostatic hy... |
ORPHA:230 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... |
ORPHA:760 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... |
ORPHA:276 |
Sepsis In Premature Infants |
|
Hypotension, Anemia, Tachycardia, Leukocytosis, Thrombocytopenia, Neutropenia, Bradycardia, Splen... |
ORPHA:90051 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Aplasia of ... |
OMIM:602450 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, T lympho... |
OMIM:600802 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Perianal abscess, Hemolytic anemia, Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidativ... |
OMIM:618935 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Insulin resistance, Tachycardia, Prolonged QT interval, Bradycardia, Splenomega... |
OMIM:613327 |
Immunodeficiency 55 |
|
Neutropenia, Absent natural killer cells, Lymphopenia |
OMIM:617827 |
Mirage Syndrome |
|
Leukopenia, Anemia, Intracranial hemorrhage, Lymphopenia, Hypoglycemia, Thrombocytopenia, Hypopla... |
OMIM:617053 |
Nephrotic Syndrome, Type 14 |
|
Hypoglycemia, Lymphopenia |
OMIM:617575 |
Schimke Immunoosseous Dysplasia |
|
Pulmonary arterial hypertension, Anemia, Abnormal T cell morphology, Cerebral ischemia, Transient... |
OMIM:242900 |
Lujo Hemorrhagic Fever |
|
Hypotension, Leukopenia, Myocarditis, Lymphopenia, Shock, Leukocytosis, Thrombocytopenia, Subconj... |
ORPHA:319213 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
Schimke Immuno-Osseous Dysplasia |
|
Pulmonary arterial hypertension, Anemia, Ischemic stroke, Cerebral ischemia, Transient ischemic a... |
ORPHA:1830 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Cerebral vasculitis,... |
OMIM:613179 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Gastrointestinal hemorrhage, Thrombocytopenia, Melena |
ORPHA:319218 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Anemia, Hypoplasia of the thymus, Hemolytic anemia, Vasculitis, Abnormal eo... |
ORPHA:906 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Acitretin/Etretinate Embryopathy |
|
Bradycardia, Third degree atrioventricular block, Hypoplasia of the thymus |
ORPHA:40366 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... |
ORPHA:216694 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:616100 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Telangiectasia, Raynaud phenomenon, Lymphopenia, Thrombocytosis |
OMIM:615934 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... |
OMIM:127550 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, ... |
OMIM:612541 |
Legionnaires Disease |
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Hypotension, Lymphopenia, Pericarditis, Arrhythmia, Myocarditis, Splenomegaly |
ORPHA:549 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Hypoplasia of the thymus, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin... |
OMIM:243150 |
D-Glyceric Aciduria |
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Hypoglycemia, Bradycardia |
OMIM:220120 |
Marburg Hemorrhagic Fever |
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Hypotension, Leukopenia, Hypovolemia, Reticulocytosis, Lymphopenia, Pericarditis, Shock, Hypoglyc... |
ORPHA:99826 |
Congenital Disorder Of Glycosylation, Type Im |
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Hypoketotic hypoglycemia, Bradycardia, Dilated cardiomyopathy |
OMIM:610768 |
Tetanus |
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Tachycardia, Bradycardia, Hypertension |
ORPHA:3299 |
Crimean-Congo Hemorrhagic Fever |
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Hypotension, Hemoperitoneum, Abnormal left ventricular function, Subdural hemorrhage, Capillary l... |
ORPHA:99827 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Leukopenia, Anemia, Raynaud phenomenon, Type I diabetes mellitus, Lymphopenia, Pancytopenia, Hepa... |
OMIM:615688 |
Immunodeficiency 23 |
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Hemolytic anemia, Vasculitis in the skin, Lymphopenia, Eosinophilia, Neutropenia, Abscess |
OMIM:615816 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Pulmonary arterial hypertension, T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of... |
ORPHA:391487 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... |
ORPHA:35078 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
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Bradycardia |
OMIM:614498 |
Glutamine Deficiency, Congenital |
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Bradycardia |
OMIM:610015 |
Illum Syndrome |
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Bradycardia |
OMIM:208155 |
Neuroleptic Malignant Syndrome |
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Hypotension, Pulmonary embolism, Hypertension, Hypertensive crisis, Thrombocytosis, Leukocytosis,... |
ORPHA:94093 |
Ataxia-Telangiectasia |
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Hypoplasia of the thymus, T lymphocytopenia, Glucose intolerance, Acute lymphoblastic leukemia, L... |
OMIM:208900 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... |
OMIM:102700 |
Avian Influenza |
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Leukopenia, Thrombocytopenia, Congestive heart failure, Lymphopenia |
ORPHA:454836 |
Wiskott-Aldrich Syndrome |
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Small vessel vasculitis, Large vessel vasculitis, Absent microvilli on the surface of peripheral ... |
OMIM:301000 |
Autoimmune Lymphoproliferative Syndrome |
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Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... |
ORPHA:3261 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Bradycardia, Neonatal hypoglycemia |
ORPHA:565624 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Bradycardia |
ORPHA:226313 |
3-Methylglutaconic Aciduria, Type Viii |
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Neutropenia, Bradycardia, Neonatal hypoglycemia |
OMIM:617248 |
Familial Thyroid Dyshormonogenesis |
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Bradycardia |
ORPHA:95716 |
Primary Intestinal Lymphangiectasia |
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Anemia, Reduced proportion of CD4+ effector memory T cells, Lymphopenia, Decreased proportion of ... |
ORPHA:90362 |
Cartilage-Hair Hypoplasia |
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Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi... |
OMIM:250250 |
Sheehan Syndrome |
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Hypoglycemia, Palpitations, Orthostatic hypotension, Bradycardia, Normochromic anemia |
ORPHA:91355 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
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Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Anemia, Thrombocytopenia, Splenomegaly, Lymphopenia |
OMIM:617591 |
Yellow Fever |
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Reduced left ventricular ejection fraction, Supraventricular arrhythmia, Neutrophilia, Internal h... |
ORPHA:99829 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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T lymphocytopenia, Raynaud phenomenon, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia |
OMIM:607944 |
Common Variable Immunodeficiency |
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Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis |
ORPHA:1572 |
Vici Syndrome |
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Leukopenia, T lymphocytopenia, Congestive heart failure, Lymphopenia, Dilated cardiomyopathy, Dec... |
OMIM:242840 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Bradycardia |
OMIM:608800 |
Glossopharyngeal Neuralgia |
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Jaw claudication, Syncope, Bradycardia |
ORPHA:221098 |
Immunodeficiency 31C |
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Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... |
OMIM:614162 |
Immunodeficiency 87 And Autoimmunity |
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Pulmonary arterial hypertension, Decreased CD4:CD8 ratio, Third degree atrioventricular block, He... |
OMIM:619573 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Anemia, Lymphopenia |
ORPHA:935 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Retinal hemorrhage, Bradycardia, Hypertension, Tachycardia |
OMIM:614653 |
Reynolds Syndrome |
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Raynaud phenomenon, Lymphopenia, Gastrointestinal hemorrhage, Palmar telangiectasia, Splenomegaly... |
OMIM:613471 |
Whim Syndrome |
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Neutropenia, Lymphopenia, Abnormality of neutrophil morphology |
ORPHA:51636 |
Cushing Disease |
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Impaired glucose tolerance, Capillary fragility, Decreased eosinophil count, Hypertension, Lympho... |
ORPHA:96253 |
Encephalitis Lethargica |
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Bradycardia |
ORPHA:83600 |
Proximal Spinal Muscular Atrophy |
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Bradycardia |
ORPHA:70 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Bradycardia |
ORPHA:90673 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia |
ORPHA:90674 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Hypoglycemia, Bradycardia |
ORPHA:226307 |
Bohring-Opitz Syndrome |
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Bradycardia |
ORPHA:97297 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Anemia, Bradycardia, Dilated cardiomyopathy |
ORPHA:79404 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Bradycardia, Pulmonary insufficiency |
OMIM:614437 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Bradycardia |
OMIM:218700 |