| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
| Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
| His Bundle Tachycardia |
|
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia |
ORPHA:3283 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
| Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
| Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
| Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
| Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... |
OMIM:616201 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Defective T cell proliferation, Decreased circulating IgG2 level... |
OMIM:615897 |
| Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hy... |
ORPHA:35878 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614495 |
| Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
| Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
| Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... |
OMIM:613980 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... |
OMIM:115200 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... |
OMIM:617222 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Complete or near-complete absen... |
OMIM:613494 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
| Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... |
OMIM:614916 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... |
OMIM:614022 |
| Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
| Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
| Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... |
OMIM:163800 |
| Brugada Syndrome 1 |
|
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... |
OMIM:601144 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:608106 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... |
ORPHA:411593 |
| Atrial Fibrillation, Familial, 15 |
|
Sudden cardiac death, Atrial flutter, Supraventricular tachycardia, Atrial fibrillation |
OMIM:615770 |
| Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, ... |
OMIM:214700 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
| Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Hypertrophic cardiomyopathy,... |
OMIM:612124 |
| Long Qt Syndrome 6 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... |
OMIM:613693 |
| Long Qt Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614496 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Atrial Fibrillation, Familial, 4 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... |
OMIM:611493 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... |
OMIM:601494 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
| Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Decr... |
ORPHA:324575 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... |
OMIM:615441 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Mitral ... |
OMIM:615373 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect, Oligohydramnios, Edema, Chole... |
OMIM:608104 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia |
ORPHA:71529 |
| Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
| Pseudohypoaldosteronism, Type Iic |
|
Decreased circulating renin level, Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614492 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... |
OMIM:600884 |
| Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... |
OMIM:619897 |
| Aorta Coarctation |
|
Patent ductus arteriosus, Aortic valve atresia, Pulmonary arterial hypertension, Perimembranous v... |
ORPHA:1457 |
| Brugada Syndrome 9 |
|
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation |
OMIM:616399 |
| Atrial Standstill 1 |
|
Atrial standstill, Premature atrial contractions, Atrial cardiomyopathy, Ventricular escape rhyth... |
OMIM:108770 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
| Long Qt Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... |
OMIM:192500 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval |
OMIM:220400 |
| Atrial Fibrillation, Familial, 3 |
|
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... |
OMIM:607554 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
| Short Qt Syndrome 1 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... |
OMIM:609620 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Type I ... |
ORPHA:276580 |
| Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... |
OMIM:614699 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
| Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia |
OMIM:613090 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free... |
ORPHA:276575 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
| Congenital Gerbode Defect |
|
Pedal edema, Systolic heart murmur, Palpitations, Peripheral edema, Elevated right atrial pressur... |
ORPHA:99095 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia |
ORPHA:871 |
| Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:610163 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Hyperlipidemia |
ORPHA:329249 |
| Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... |
OMIM:603830 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype... |
OMIM:613838 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... |
OMIM:115000 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... |
OMIM:607450 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Gastroesophageal reflux, Achalasia, Ventricular septal defect, Congenital lobar overinflation, Pe... |
OMIM:600987 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
| Long Qt Syndrome 12 |
|
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
| Atrial Standstill 2 |
|
Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wave, Bradyca... |
OMIM:615745 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome |
OMIM:617182 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
| Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... |
OMIM:611875 |
| Short Qt Syndrome 7 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation |
OMIM:620231 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Abnormal circulating hormone concentration, Hyperinsulinemia, Hypertriglyceridemia, Insulin-resis... |
ORPHA:280356 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c... |
OMIM:619707 |
| Tako-Tsubo Cardiomyopathy |
|
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... |
ORPHA:66529 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Hyperinsulinemia, Insulin resistance |
ORPHA:79084 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... |
ORPHA:79644 |
| Long Qt Syndrome 14 |
|
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... |
OMIM:616247 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Conductive hearing impairment, High palate, Perimembranous ventricular septal defect, Paroxysmal ... |
OMIM:617877 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
| Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:616636 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Elevated circulating alanine aminotransferase concentration, Ventricular septal defect, Portal in... |
OMIM:613759 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
| Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
| Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
| Immunodeficiency, Common Variable, 3 |
|
Chronic decreased circulating total IgG, Reduced isohemagglutinin level, Decreased circulating Ig... |
OMIM:613493 |
| Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnormal left ve... |
ORPHA:216694 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Precocious puberty in females, Elevated circulating 17-hydroxyprogesterone concentration, Decreas... |
ORPHA:90794 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... |
OMIM:615184 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy |
OMIM:618815 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgG level, Increased circulating IgE level |
OMIM:618982 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c... |
OMIM:613502 |
| Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Optic disc pallor, Recurrent lower respiratory tract infections, Perimembranous ven... |
OMIM:619170 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance... |
OMIM:604367 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... |
ORPHA:71526 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
| Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
| Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... |
OMIM:611819 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... |
OMIM:612098 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Atrial septal defect, Oligohydramnios, Hypertrophic car... |
OMIM:620135 |
| Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Abnormality of the pulmonary arter... |
ORPHA:90308 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
| Caspase 8 Deficiency |
|
Decreased T cell activation, Decreased circulating total IgM, Complete or near-complete absence o... |
OMIM:607271 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... |
OMIM:609040 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgG level, Increased circulating IgM level |
OMIM:619220 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Bradycardia, Congestive heart failure |
OMIM:619048 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation |
OMIM:612956 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... |
ORPHA:45452 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglyc... |
OMIM:262190 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level |
OMIM:162700 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Increa... |
OMIM:618534 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Truncus arteriosus, Microcolon, Hypoplastic tricuspid valve, Pulmonary artery stenosis, Double ou... |
OMIM:600001 |
| Snijders Blok-Campeau Syndrome |
|
High palate, Perimembranous ventricular septal defect, Atrial septal defect, Low-set ears, Pulmon... |
OMIM:618205 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... |
OMIM:611777 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Bradycardia, Tachycardia |
ORPHA:70587 |
| Laubry-Pezzi Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Elevated pulmonary artery pressure, Ascending tub... |
ORPHA:99094 |
| Mungan Syndrome |
|
Barrett esophagus, Hypoperistalsis, Perimembranous ventricular septal defect, Megaduodenum, Pulmo... |
OMIM:611376 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
| Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Hyperaldosteronism, Hypokalemia, Increased circulating renin le... |
OMIM:601678 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Reduced circulating interleukin 17A concentrati... |
OMIM:619632 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia |
OMIM:602522 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Delayed puberty, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome |
ORPHA:542306 |
| Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased cir... |
OMIM:618944 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiac arrest, Premature ventricular contraction, Ventricular tachycardia, Atrioven... |
OMIM:212138 |
| Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... |
ORPHA:330001 |
| Brugada Syndrome 7 |
|
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
| Insulinoma |
|
Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells, Neuroendocr... |
ORPHA:97279 |
| Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect, Left-to-right shunt, Velophar... |
ORPHA:363444 |
| Mody |
|
Transient neonatal diabetes mellitus, Abnormal circulating insulin concentration, Diabetic ketoac... |
ORPHA:552 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
| Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
ORPHA:859 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Glucose... |
OMIM:615363 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Immunodeficiency 62 |
|
Reduced isohemagglutinin level, Complete or near-complete absence of specific antibody response t... |
OMIM:618459 |
| Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
| Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Hypo... |
ORPHA:1209 |
| Bartter Syndrome Type 4 |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, ... |
ORPHA:89938 |
| Chromosome 9P Deletion Syndrome |
|
Patent ductus arteriosus, High palate, Narrow palate, Ventricular septal defect, Perimembranous v... |
OMIM:158170 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... |
ORPHA:300751 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Decreased circulating IgE,... |
OMIM:300400 |
| Sandestig-Stefanova Syndrome |
|
High palate, Perimembranous ventricular septal defect, Underdeveloped tragus, Muscular ventricula... |
OMIM:618804 |
| Trimethylaminuria |
|
Tachycardia, Hypertension |
OMIM:602079 |
| Immunodeficiency 61 |
|
Agammaglobulinemia, Decreased circulating IgG2 level, Decreased circulating IgG4 level, Decreased... |
OMIM:300310 |
| Ogden Syndrome |
|
Torsade de pointes, Secundum atrial septal defect, Pulmonary hypoplasia, Premature atrial contrac... |
OMIM:300855 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia |
ORPHA:1055 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance |
ORPHA:369873 |
| Cardiomyopathy, Dilated, 1Y |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:611878 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Angina pectoris, Hypertrophic cardiomyopathy, Ventricular tachycardia, Palpitations, Atrial fibri... |
OMIM:613873 |
| Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Hyperaldosteronism, Hypokalemia, Increased circulating renin le... |
OMIM:241200 |
| Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c... |
OMIM:612692 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
| Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, N... |
ORPHA:293964 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... |
OMIM:108950 |
| Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, M... |
ORPHA:99886 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Gastroesophageal reflux, Elevated circulating alanine aminotransferase concentration, Sensorineur... |
OMIM:608779 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Neonatal hypoglycemia, Hyperinsulinemic h... |
ORPHA:263455 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... |
OMIM:601859 |
| Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypogonadism |
ORPHA:791 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect, Perimembranous vent... |
ORPHA:508498 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Heart block, Abnormal vena cava morpholog... |
ORPHA:185 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level |
OMIM:247800 |
| Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Hypoglycemia, Hyper... |
ORPHA:79237 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... |
ORPHA:860 |
| Timothy Syndrome |
|
Prolonged QT interval, Bradycardia |
OMIM:601005 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
| Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... |
ORPHA:1227 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating lipid concentration, Increased serum testosterone level, F... |
ORPHA:2298 |
| Rubinstein-Taybi Syndrome 1 |
|
Polyhydramnios, Spina bifida occulta, Aortic isthmus hypoplasia, Cleft palate, Hearing impairment... |
OMIM:180849 |
| Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... |
OMIM:613507 |
| Glutamine Deficiency, Congenital |
|
Neonatal death, Bradycardia |
OMIM:610015 |
| Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block |
OMIM:614407 |
| Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... |
ORPHA:439232 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:614702 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased circulating IgG2 level, Increased circulating IgM level, Decreased specific pneumococca... |
OMIM:615513 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:3085 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level |
OMIM:314000 |
| Cln3 Disease |
|
T-wave inversion, Bradycardia |
ORPHA:228346 |
| Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level |
OMIM:312863 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Midline liver, Ventricular septal defect, Common atrium, Transposi... |
OMIM:613751 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Bradycardia, Arrhythmia |
OMIM:609286 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati... |
OMIM:261740 |
| Halperin-Birk Syndrome |
|
Gastroesophageal reflux, High palate, Optic atrophy, Perimembranous ventricular septal defect, Ps... |
OMIM:618651 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Hypertriglyceridemia, Insulin resistance |
ORPHA:363400 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Ventricular septal defect, Abnormal ... |
ORPHA:3405 |
| Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Absence of secondary sex characteristics, Abnormal circulating hormone concentr... |
ORPHA:785 |
| Tetanus |
|
Tachycardia, Bradycardia, Hypertension |
ORPHA:3299 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Gastroesophageal reflux, Sensorineural hearing impairment, Ventricular septal defect, Perimembran... |
OMIM:301040 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Pedal edema, Ventricular septal defect, Peripheral arterial stenosis, V... |
OMIM:126320 |
| Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level |
OMIM:615767 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:300861 |
| Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Pedal edema, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Venous insufficie... |
ORPHA:568051 |
| Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
| Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
| Secondary Short Bowel Syndrome |
|
Enterocolitis, Villous atrophy, Small intestinal dysmotility, Malabsorption, Atherosclerosis, Aga... |
ORPHA:95427 |
| Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgG, Decreased circulating total IgM... |
OMIM:618969 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... |
OMIM:614980 |
| Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA level, Part... |
OMIM:619824 |
| Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level |
OMIM:193670 |
| Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
| Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... |
ORPHA:276152 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgG level, Abnormal circulating IgM level, Increased circulating IgA level |
OMIM:618048 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Telangiectasia, Cerebral arteriovenous malformation, Pulmonar... |
OMIM:175050 |
| Transaldolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Telangiectasia, Wide... |
OMIM:606003 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169154 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
| Immunodeficiency 27A |
|
Increased circulating IgG level, Increased circulating IgM level |
OMIM:209950 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... |
ORPHA:71212 |
| Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Increased C-peptide level, Insulin resistance, D... |
ORPHA:528 |
| Juvenile Polyposis Syndrome |
|
Juvenile colonic polyposis, Hepatic arteriovenous malformation, Neoplasm of the gastrointestinal ... |
ORPHA:2929 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:611926 |
| Immunodeficiency 105 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619924 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Ascending tubular aorta aneurysm, Left vent... |
ORPHA:3092 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Reduced natural killer cell activity, Increased circulating IgA l... |
OMIM:300291 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Left ventricular outflow tract obstruction, Hypoplastic pulmonary ... |
OMIM:613854 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Polyhydramnios, Asplenia, Nonimmune hydrops fetalis, Pulmonary art... |
OMIM:265380 |
| Kaposi Sarcoma |
|
Abnormality of the liver, Abnormality of the gastrointestinal tract, Lymphedema, Venous insuffici... |
ORPHA:33276 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Reduced natural killer cell act... |
OMIM:619281 |
| Ebstein Anomaly |
|
Sudden cardiac death, Right bundle branch block, Atrial standstill, Ventricular preexcitation, At... |
OMIM:224700 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM |
OMIM:243700 |
| Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... |
ORPHA:2041 |
| Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency, Ed... |
ORPHA:624 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-resist... |
ORPHA:2457 |
| Capillary Malformation-Arteriovenous Malformation |
|
Telangiectasia, Cerebral ischemia, Lymphedema, Arteriovenous malformation, Cerebral arteriovenous... |
ORPHA:137667 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Vascular dilatation, Mitral valve prolapse, Aortic aneurysm, Abnormal bleeding, Arterial dissecti... |
ORPHA:1900 |
| Familial Thyroid Dyshormonogenesis |
|
Bradycardia |
ORPHA:95716 |
| Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
ORPHA:79319 |
| Lymphatic Malformation 6 |
|
Gastroesophageal reflux, Polyhydramnios, Splenomegaly, Lymphedema, Nonimmune hydrops fetalis, Atr... |
OMIM:616843 |
| Immunodeficiency, Common Variable, 2 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce... |
OMIM:240500 |
| Igg4-Related Aortitis |
|
Increased circulating antibody level, Increased circulating IgG4 level, Increased circulating IgE... |
ORPHA:449400 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Polyhydramnios, Asplenia, Hepatomegal... |
OMIM:306955 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... |
OMIM:603909 |
| Peripartum Cardiomyopathy |
|
Pulmonary arterial hypertension, Abnormal T-wave, Reduced left ventricular ejection fraction, Hea... |
ORPHA:563 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Patent ductus arteriosus, Ascending tubular aorta aneurysm, High palate, Truncus arteriosus, Sens... |
OMIM:612474 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgE level, Reduced antigen-specific T cell proliferation, Increased circula... |
OMIM:617241 |
| Necrotizing Enterocolitis |
|
Hypotension, Bradycardia, Shock |
ORPHA:391673 |
| Donohue Syndrome |
|
Hyperinsulinemia, Precocious puberty, Postprandial hyperglycemia, Pancreatic islet-cell hyperplas... |
OMIM:246200 |
| Glossopharyngeal Neuralgia |
|
Jaw claudication, Syncope, Bradycardia |
ORPHA:221098 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr... |
OMIM:208530 |
| Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgG level |
OMIM:618495 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Asplenia, High palate, Unbalanced atriov... |
OMIM:619657 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Bradycardia, Persistent fetal circulation |
OMIM:618775 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Abnormal immunoglobulin level, Decreas... |
ORPHA:276 |
| Alstrom Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... |
OMIM:203800 |
| Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... |
ORPHA:1686 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left ventricular outflow tract obstruction, Aortopulmonary window, Pulmonary hypoplasia, Abnormal... |
ORPHA:99050 |
| Absence Of The Pulmonary Artery |
|
Pedal edema, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Bronc... |
ORPHA:980 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Impaired T cell function, Decreased circulating total IgM, Decre... |
OMIM:607594 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level |
ORPHA:206594 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hypo... |
ORPHA:300373 |
| Truncus Arteriosus |
|
Truncus arteriosus, Pulmonary hypoplasia, Tachycardia, Pulmonary artery stenosis, Ventricular sep... |
ORPHA:3384 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Common atrium,... |
OMIM:616749 |
| Parkes Weber Syndrome |
|
Vascular dilatation, Bounding pulse, Arteriovenous malformation, Cerebral arteriovenous malformat... |
ORPHA:90307 |
| Pseudo-Torch Syndrome 2 |
|
Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... |
OMIM:617300 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating tota... |
OMIM:614069 |
| Immunodeficiency, Common Variable, 6 |
|
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... |
OMIM:613496 |
| Immunodeficiency 43 |
|
Abnormal circulating IgA level, Decreased specific antibody response to polysaccharide vaccine, A... |
OMIM:241600 |
| Cat Eye Syndrome |
|
Cleft palate, Hearing impairment, Rectal fistula, Ventricular septal defect, Atrial septal defect... |
OMIM:115470 |
| Boutonneuse Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:83313 |
| Immunodeficiency 96 |
|
Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating total IgM,... |
OMIM:619774 |
| Angiostrongyliasis |
|
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... |
ORPHA:74 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Decreased circulating total IgM |
OMIM:617638 |
| Proteus Syndrome |
|
Splenomegaly, Venous malformation |
OMIM:176920 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Venous varicosities of celiac and mesenteric vessels, Dilatation of mesenteric artery, Palate tel... |
OMIM:610655 |
| Congenital Alveolar Capillary Dysplasia |
|
Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Pulmonary arter... |
ORPHA:210122 |
| Congenital Tracheal Stenosis |
|
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Morphol... |
ORPHA:141127 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ... |
OMIM:187300 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased T cell activation, Decreased circulating IgE, Impaired Ig class switch recombination, I... |
OMIM:308230 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose int... |
OMIM:608612 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, At... |
OMIM:617478 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Bradycardia, Tachycardia, Atrial fibrillation |
OMIM:613327 |
| Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Edema, Venous malformation, Telangiectasia of the skin |
ORPHA:75508 |
| Von Willebrand Disease |
|
Abnormal mitral valve morphology, Venous insufficiency |
ORPHA:903 |
| D-Glyceric Aciduria |
|
Bradycardia |
OMIM:220120 |
| Hardikar Syndrome |
|
Cleft soft palate, Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Celiac... |
OMIM:301068 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Pulmonary embolism, Venous insufficiency, Purpura, Abnormal cerebral vascular morphology |
ORPHA:745 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Pleural effusion, Abnormal vena cava morphology, Palpitations, Hepatomegaly, Peripheral edema, Tr... |
ORPHA:1677 |
| Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism, Subcutaneous hemorrhage, Abnormal cerebral vascular morphology, Purpura, Veno... |
ORPHA:743 |
| Milroy Disease |
|
Pedal edema, Lymphedema, Predominantly lower limb lymphedema, Abnormal venous morphology, Varicos... |
ORPHA:79452 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating total IgM, Decr... |
OMIM:618394 |
| Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Increased C-peptide level, Precocious puberty, Increased serum testosterone level... |
ORPHA:769 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Insulin resistance, Increased blood urea nitrogen, Hypoglycemia, Elevated circu... |
ORPHA:230 |
| Meacham Syndrome |
|
Patent ductus arteriosus, Neonatal death, Cardiac total anomalous pulmonary venous connection, Ve... |
OMIM:608978 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Bradycardia, Dilated cardiomyopathy |
OMIM:610768 |
| Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating lipid concentration, Insulin resistance, Insulin-resistant... |
ORPHA:79086 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Abdominal situs ambiguus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... |
OMIM:619702 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgG level, Increased circulating IgA level |
OMIM:617388 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia |
OMIM:188580 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia |
ORPHA:565624 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Decreased cir... |
OMIM:301082 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... |
OMIM:171420 |
| Alpha-Heavy Chain Disease |
|
Malabsorption, Hepatomegaly, Abnormal small intestine morphology, Ascites, Splenomegaly |
ORPHA:100025 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Meige Disease |
|
Pedal edema, Lymphedema, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Pleur... |
ORPHA:90186 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Reduced natural killer cell activity, Decreased circulating antibody level, Increased circulating... |
OMIM:308240 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
OMIM:602579 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Bradycardia, Hypertension, Tachycardia |
OMIM:614653 |
| Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren... |
OMIM:600376 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Insulin-res... |
OMIM:151660 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Biliary hyperplasia, Low-set ears, Perimembranous ventricular septal defec... |
ORPHA:83617 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level |
OMIM:202700 |
| Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Paraproteinemia, Increased ... |
ORPHA:91139 |
| Neuroleptic Malignant Syndrome |
|
Hypotension, Pulmonary embolism, Hypertension, Hypertensive crisis, Arrhythmia, Bradycardia, Tach... |
ORPHA:94093 |
| Enlarged Parietal Foramina |
|
Myelomeningocele, Abnormal cerebral vein morphology, Venous malformation, Cleft palate, Occipital... |
ORPHA:60015 |
| Sepsis In Premature Infants |
|
Hypotension, Bradycardia, Tachycardia |
ORPHA:90051 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Aortic Arch Interruption |
|
Pedal edema, Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary wi... |
ORPHA:2299 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hypercholesterolemia, Hyperinsulinemia, Impaired glucose tolerance, Calcinosis, Hyperlipidemia, I... |
OMIM:248370 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:619705 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Subconjunctival hemorrhage, Shock, Myocarditis, Bradycardia |
ORPHA:319213 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... |
ORPHA:1329 |
| Scleroderma |
|
Abnormal large intestine morphology, Abnormal stomach morphology, Pericarditis, Facial palsy, Abn... |
ORPHA:801 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level |
OMIM:152800 |
| Loeys-Dietz Syndrome 6 |
|
Abdominal aortic aneurysm, Ventricular hypertrophy, High palate, Vertebral artery aneurysm, Carot... |
OMIM:619656 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrioventricular canal defect, Asplenia, Ascending tubular aorta aneurysm, Abdominal situs ambigu... |
OMIM:270100 |
| Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
| Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Pulmonary arterial hypertension, Retinal hemorrhage, Myocarditis, Hemothorax, Hemope... |
ORPHA:99827 |
| Mu-Heavy Chain Disease |
|
Increased circulating antibody level |
ORPHA:100024 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating total IgM, Decr... |
OMIM:619510 |
| Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure |
ORPHA:90037 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level |
OMIM:615285 |
| Cardiac Valvular Dysplasia 1 |
|
Hypoplasia of right ventricle, Tricuspid regurgitation, Patent foramen ovale, Left aortic arch wi... |
OMIM:212093 |
| Immunodeficiency 23 |
|
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level |
OMIM:615816 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgG level, Increased circulating IgA level |
OMIM:615934 |
| Meacham Syndrome |
|
Patent ductus arteriosus, Pulmonary sequestration, Conotruncal defect, Ventricular septal defect,... |
ORPHA:3097 |
| Hepatocellular Carcinoma |
|
Hypotension, Pedal edema, Abnormality of the liver, Liver abscess, Hepatic necrosis, Jaundice, An... |
ORPHA:88673 |
| Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE... |
ORPHA:449432 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Increased circulating IgE level, Decreased circulating total IgM... |
OMIM:619752 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Increased circulating antibody level, Decreased circulating total IgA, Decreased lymphocyte proli... |
ORPHA:169160 |
| Systemic Sclerosis |
|
Abnormal large intestine morphology, Abnormal stomach morphology, Pericarditis, Abnormal esophagu... |
ORPHA:90291 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
| Proximal Spinal Muscular Atrophy |
|
Bradycardia |
ORPHA:70 |
| Autoimmune Hepatitis |
|
Increased circulating antibody level, Increased circulating IgG level |
ORPHA:2137 |
| Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:3464 |
| Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Pericardial effusion, Patent urachus, Pulmonary hypoplasia, Biventricular... |
OMIM:618280 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating tota... |
OMIM:616100 |
| Sheehan Syndrome |
|
Orthostatic hypotension, Bradycardia, Palpitations |
ORPHA:91355 |
| Paragangliomas 3 |
|
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia |
OMIM:605373 |
| Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia |
ORPHA:90673 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Decreased lymphocyte apoptosis |
OMIM:614470 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation |
OMIM:261990 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Decreased circulating complement C3 concentration, Absent isohemagglutinin level, Reduced natural... |
OMIM:615559 |
| Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Lymphedema, Predominantly lower limb lymphed... |
OMIM:153400 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Arteriovenous malformation, Congestive heart failure, Venous insufficiency |
ORPHA:137608 |
| Chilblain Lupus |
|
Increased circulating antibody level |
ORPHA:90280 |
| Autoimmune Lymphoproliferative Syndrome |
|
Decreased circulating total IgM, Increased circulating antibody level, Increased circulating IgG ... |
ORPHA:3261 |
| Pgm3-Cdg |
|
Reduced antigen-specific T cell proliferation, Increased circulating IgE level, Bone marrow hypoc... |
ORPHA:443811 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Increased circulating IgG level, Increased circulating IgE level,... |
OMIM:618213 |
| Livedoid Vasculopathy |
|
Macular purpura, Pedal edema, Ischemic stroke, Abnormal capillary morphology, Telangiectasia of t... |
ORPHA:542643 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Hypoplasia of right ventricle, Pulmonary artery stenosis, Double out... |
ORPHA:2255 |
| Phace Syndrome |
|
Aortic root aneurysm, Abnormal cerebral artery morphology, Abnormal cardiac septum morphology, Ab... |
ORPHA:42775 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating total IgM, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:331206 |
| Prader-Willi Syndrome |
|
Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Adre... |
OMIM:176270 |
| Renal Nutcracker Syndrome |
|
Dilatation of mesenteric artery, Abnormal autonomic nervous system physiology, Vulval varicose ve... |
ORPHA:71273 |
| Immunodeficiency 92 |
|
Partial absence of specific antibody response to tetanus vaccine, Abnormal B cell proliferation, ... |
OMIM:619652 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:615577 |
| Marburg Hemorrhagic Fever |
|
Hypotension, Hypovolemia, Internal hemorrhage, Shock, Pericarditis, Capillary leak, Subconjunctiv... |
ORPHA:99826 |
| Leprechaunism |
|
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Hypokalemia, Insulin resistance, In... |
ORPHA:508 |
| Multiple Myeloma |
|
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... |
ORPHA:29073 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia |
ORPHA:90674 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Hypophosphatemic rickets, Recurrent hypoglycemia, Hypoinsulinemia, Reduced C-peptid... |
ORPHA:2126 |
| Menkes Disease |
|
Vascular dilatation, Abnormal carotid artery morphology, Malabsorption, Intracranial hemorrhage, ... |
ORPHA:565 |
| Immunodeficiency 22 |
|
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating total IgM, Decr... |
OMIM:615758 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Mitral valve calcification, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morp... |
ORPHA:2072 |
| Yellow Fever |
|
Reduced left ventricular ejection fraction, Supraventricular arrhythmia, Internal hemorrhage, Sho... |
ORPHA:99829 |
| Immunodeficiency 32B |
|
Abnormal circulating IgG level, Impaired oxidative burst |
OMIM:226990 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Decreased serum leptin, Diabete... |
OMIM:608594 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Type II diabetes mellitus, Decr... |
OMIM:269700 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neonatal death, Bradycardia |
OMIM:617248 |
| Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... |
OMIM:610338 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgA level, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:616005 |
| Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation, Lymphedema |
OMIM:613089 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Sinus bradycardia |
OMIM:618397 |
| Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... |
OMIM:171300 |
| Loeys-Dietz Syndrome 3 |
|
Aortic tortuosity, Ventricular hypertrophy, Pneumothorax, Bifid uvula, Ascending aortic dissectio... |
OMIM:613795 |
| Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level |
OMIM:256500 |
| Atypical Werner Syndrome |
|
Hyperinsulinemia, Hypogonadism, Glycosuria, Type II diabetes mellitus, Diabetes mellitus, Neoplas... |
ORPHA:79474 |
| Bohring-Opitz Syndrome |
|
Bradycardia |
ORPHA:97297 |
| Proteus-Like Syndrome |
|
Retinal detachment, Bronchogenic cyst, Splenomegaly, Venous insufficiency |
ORPHA:2969 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level |
ORPHA:99965 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level |
ORPHA:275 |
| Rift Valley Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:319251 |
| Foix-Alajouanine Syndrome |
|
Cervical myelopathy, Myelopathy, Arteriovenous fistula, Venous malformation |
ORPHA:79093 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Pulmonary hypoplasia, Pulmonary artery ... |
ORPHA:99125 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:562639 |
| Tick-Borne Encephalitis |
|
Increased circulating IgG level, Increased circulating IgM level, Abnormality of serum cytokine l... |
ORPHA:297 |
| Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
| Steinert Myotonic Dystrophy |
|
Hypercholesterolemia, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Ab... |
ORPHA:273 |
| Clapo Syndrome |
|
Varicose veins, Venous malformation, Lymphedema |
ORPHA:168984 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level |
ORPHA:69126 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:275350 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Bradycardia, Pulmonary insufficiency |
OMIM:614437 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia |
OMIM:218700 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pneumothorax, Pulmonary bleb, Nodular pattern on pulmonary HRCT, Repeated pneumothoraces, Hemotho... |
OMIM:130050 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating tota... |
OMIM:619802 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating tota... |
ORPHA:90362 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Spinal dysraphism, Venous malformation |
OMIM:612918 |
| Whim Syndrome |
|
Respiratory tract infection, Bronchiectasis, Recurrent pneumonia, Pneumonia, Parotitis, Recurrent... |
ORPHA:51636 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Impaired neutrophil chemotaxis, Decreased lymphocyte proliferation in response to anti-CD3, Parti... |
OMIM:618986 |
| Angioosteohypertrophic Syndrome |
|
Pulmonary embolism, Lymphedema, Congestive heart failure, Venous insufficiency, Peripheral arteri... |
ORPHA:2346 |
| Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level |
ORPHA:1493 |
| Thrombocytopenia 1 |
|
Increased circulating IgE level, Increased circulating IgA level |
OMIM:313900 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Bradycardia |
ORPHA:226307 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Bradycardia, Dilated cardiomyopathy |
ORPHA:79404 |
| Igg4-Related Kidney Disease |
|
Decreased circulating complement C3 concentration, Increased circulating IgG4 level, Increased ci... |
ORPHA:449395 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level |
OMIM:613011 |
| Igg4-Related Thyroid Disease |
|
Increased circulating IgG4 level |
ORPHA:64744 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... |
ORPHA:35078 |
| Coccidioidomycosis |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:228123 |
| Pyoderma Gangrenosum |
|
Increased circulating antibody level |
ORPHA:48104 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:620040 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Increased circulating antibody level, Increase... |
OMIM:256040 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Abnormal venous morphology, Microtia, Abnormal cerebral vascular morp... |
ORPHA:276280 |
| Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
| Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Hyperinsulinemia, Type II diabetes mellitus, Thyroiditis, Increa... |
ORPHA:99413 |
| Turner Syndrome |
|
High urinary gonadotropin level, Hyperinsulinemia, Type II diabetes mellitus, Thyroiditis, Increa... |
ORPHA:881 |
| Mosaic Monosomy X |
|
High urinary gonadotropin level, Hyperinsulinemia, Type II diabetes mellitus, Thyroiditis, Increa... |
ORPHA:99228 |
| Monosomy X |
|
High urinary gonadotropin level, Hyperinsulinemia, Type II diabetes mellitus, Thyroiditis, Increa... |
ORPHA:99226 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased specific antibody response to vaccination, Decreased circulating IgA level, Decreased c... |
OMIM:614700 |
| Alg12-Cdg |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:79324 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Gastroesophageal reflux, Anorectal anomaly, Ascending tubular aorta aneurysm, Malabsorption, Arte... |
ORPHA:285 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
| Mogs-Cdg |
|
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating tota... |
ORPHA:79330 |
| Igg4-Related Pachymeningitis |
|
Increased circulating IgG4 level, Complement deficiency |
ORPHA:449427 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Increased circulating IgM level |
ORPHA:79078 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Gastroesophageal reflux, Macrotia, Cerebral arteriovenous malformation, Bicuspid aortic valve, Pr... |
OMIM:150230 |
| Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level |
OMIM:613070 |
| Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
| Liver Disease, Severe Congenital |
|
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Hyperinsulinemic hypogl... |
OMIM:619991 |
| Occipital Horn Syndrome |
|
Gastroesophageal reflux, Vascular dilatation, Hepatitis, Jaundice, Abnormal esophagus physiology,... |
ORPHA:198 |
| Immunodeficiency 47 |
|
Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating a... |
OMIM:300972 |
| Glomuvenous Malformation |
|
Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Venous malformation |
ORPHA:83454 |
| Brucellosis |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:1304 |
| X-Linked Lymphoproliferative Disease |
|
Decreased circulating total IgM, Decreased circulating antibody level, Dysgammaglobulinemia, Incr... |
ORPHA:2442 |
| Microphthalmia With Limb Anomalies |
|
High palate, Optic atrophy, Arrhinencephaly, Venous insufficiency, Large earlobe, Low-set, poster... |
ORPHA:1106 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia |
OMIM:619482 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Decreased circulating IgG level |
OMIM:301078 |
| Selective Igm Deficiency |
|
Decreased circulating total IgM, Paraproteinemia, Decreased circulating IgA level, Decreased spec... |
ORPHA:331235 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:612301 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating total IgM, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:508533 |
| Mgat2-Cdg |
|
Decreased circulating antibody level, Impaired platelet aggregation, Decreased lymphocyte prolife... |
ORPHA:79329 |
| Igg4-Related Ophthalmic Disease |
|
Increased circulating IgG4 level, Increased circulating IgE level |
ORPHA:449563 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG2 level, Defective B cell differentiation, Decreased circulating IgA lev... |
OMIM:208900 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased circulating IgA level, Decreased specific pneumococcal antibody level, Decreased circul... |
ORPHA:183675 |
| Fraser Syndrome 1 |
|
Hypoplastic superior helix, Abnormal small intestine morphology, Encephalocele, Abnormality of th... |
OMIM:219000 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:212065 |
| Vici Syndrome |
|
Cutaneous anergy, Decreased circulating IgG2 level, Decreased T cell activation, Decreased circul... |
OMIM:242840 |
| Bloom Syndrome |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:210900 |
| Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level |
OMIM:601675 |
| Say-Barber-Miller Syndrome |
|
Impaired neutrophil chemotaxis, Transient hypogammaglobulinemia of infancy, Decreased circulating... |
ORPHA:3132 |
| Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:420741 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... |
OMIM:617062 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Increased circulating antibody level, Increased circulating IgG level |
ORPHA:91500 |
| Congenital Analbuminemia |
|
Increased circulating antibody level |
ORPHA:86816 |
| Bloom Syndrome |
|
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating tota... |
ORPHA:125 |
| Viss Syndrome |
|
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level |
OMIM:619472 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Bone marrow hypocellularity, Increased circulating IgM level, Decreased circulating IgG level |
ORPHA:505248 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:620005 |
| Dubowitz Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:223370 |
| Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
| Norrie Disease |
|
Macrotia, Sensorineural hearing impairment, Optic atrophy, Venous insufficiency, Abnormal cochlea... |
ORPHA:649 |
| Alström Syndrome |
|
Precocious puberty in females, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone... |
ORPHA:64 |
| Pmm2-Cdg |
|
Hyperinsulinemia, Increased circulating prolactin concentration, Elevated circulating thyroid-sti... |
ORPHA:79318 |
| Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level |
OMIM:271510 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level |
OMIM:618278 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Secretory IgA deficiency, Decreased circulating IgG level |
ORPHA:500150 |
