Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Somatic sensory dysfunction, Megaloblastic anemia, Paresthesia, Increa... |
OMIM:261000 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Hemolytic anemia, Choreoathetosis, Reticulocytosis, Ataxia, Splenomegaly |
OMIM:612126 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Glutamate-Cysteine Ligase Deficiency |
|
Ataxia, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly |
ORPHA:33574 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis, Myocardial infarc... |
ORPHA:54057 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate production, Sple... |
OMIM:237800 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... |
ORPHA:3202 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Hyperkalemia, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased... |
ORPHA:90044 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Epistaxis, Increased RBC distribution width, Thr... |
OMIM:314050 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Ataxia, Erythroid hyperplasia, Reticulocytosis |
OMIM:300653 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume |
OMIM:620044 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Mitral regurgitation, Macrocytic anemia, Persistence of hemogl... |
OMIM:612561 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Ataxia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Glycogen Storage Disease Ii |
|
Subarachnoid hemorrhage, Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome,... |
OMIM:232300 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Ang... |
ORPHA:85451 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... |
OMIM:108950 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Trimethylaminuria |
|
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly |
OMIM:602079 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Hyperbilirubinemia, Ataxia, Reticulocytosis, Decreased hemoglobin concentration |
ORPHA:713 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati... |
OMIM:261740 |
Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration |
OMIM:300376 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular vo... |
OMIM:611590 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Splenomegaly, Reticulocytosis |
OMIM:224100 |
Cln3 Disease |
|
Shuffling gait, T-wave inversion, Ataxia, Loss of ambulation, Bradycardia, Vacuolated lymphocytes |
ORPHA:228346 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Impaired myocardial contractility, Transient hypophosphatemia, Hyperkalemia... |
ORPHA:79102 |
Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri... |
ORPHA:822 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Spastic ataxia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethionine... |
OMIM:277410 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... |
ORPHA:71275 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... |
OMIM:232800 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Retinal hemorrhage, Abnormal ... |
ORPHA:86839 |
Methylcobalamin Deficiency Type Cble |
|
Hyperhomocystinemia, Hypomethioninemia, Pancytopenia, Hypertension, Macrocytic anemia, Increased ... |
ORPHA:2169 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... |
OMIM:206100 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Inability to walk, Truncal ataxia, Congestive heart failure, Aortic regurgitation, Shortened PR i... |
OMIM:620066 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... |
ORPHA:45452 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... |
OMIM:612690 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Lymphopenia, Ataxia, Increased mean corpuscular volume, Thrombocytopenia, Apl... |
OMIM:127550 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Neonatal hyperbi... |
OMIM:618892 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Hypertension, Ataxia, Shortened PR interval, Unsteady gait |
OMIM:614947 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Paroxysmal Extreme Pain Disorder |
|
Impaired pain sensation, Bradycardia, Tachycardia |
OMIM:167400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome, Congesti... |
ORPHA:137675 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Somatic sensory dysfunction, Abnormal EKG, Progressive gait ataxia, Progressive cerebellar ataxia... |
ORPHA:1177 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Syncope, Arrhythmia, Iron deficiency anemia, Prolonged QTc interval, Ventricu... |
ORPHA:90647 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Thrombocytopenia, Splenomegaly, Reticulocytosis |
OMIM:611490 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Sudden cardiac death, Elevated circulating creatine kinase concentration, Loss of ambulation, Pal... |
OMIM:310300 |
Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG, Elevated circulating creatine kinase concentration |
OMIM:309930 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosi... |
OMIM:266200 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Transient ischemic attack, Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood ur... |
OMIM:274150 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... |
OMIM:615234 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... |
OMIM:616860 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... |
OMIM:300908 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... |
OMIM:616201 |
Peripartum Cardiomyopathy |
|
Pulmonary arterial hypertension, Abnormal T-wave, Anemia, Reduced left ventricular ejection fract... |
ORPHA:563 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular outflow tract obstruction, Heart murmur, Elevated circulating creatine kinase co... |
ORPHA:308552 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Conjunctival telangiectasia, Increased proportion of gamma-del... |
OMIM:619774 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Normochromic microcytic anemia, Noncompaction cardiomyopathy, Ataxia, Conge... |
OMIM:610198 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Hyperbilirubinemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenome... |
OMIM:235700 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Hypertension, Reticulocytosis, Increased blood urea nitrogen, ... |
OMIM:235400 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, S... |
ORPHA:101016 |
Abetalipoproteinemia |
|
Gait ataxia, Impaired distal proprioception, Anemia, Decreased LDL cholesterol concentration, Hyp... |
ORPHA:14 |
Majeed Syndrome |
|
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequat... |
OMIM:609628 |
Primary Familial Polycythemia |
|
Epistaxis, Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:182900 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... |
ORPHA:288 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Congestive heart failure, Pericarditis, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly |
OMIM:185000 |
Elliptocytosis 2 |
|
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
Sitosterolemia 1 |
|
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Elevate... |
OMIM:210250 |
Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Abnormality of iron homeostasis, Increased HbA2 hemoglobin, Elev... |
ORPHA:231222 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Acquired Methemoglobinemia |
|
Syncope, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia |
ORPHA:464453 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
Recessive Mitochondrial Ataxia Syndrome |
|
Gait disturbance, Ataxia, Positive Romberg sign, Dysmetria, Increased serum pyruvate, ST segment ... |
ORPHA:94125 |
Eisenmenger Syndrome |
|
Ventricular arrhythmia, Supraventricular arrhythmia, Angina pectoris, Palpitations, Hepatojugular... |
ORPHA:97214 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia, Mitral regurgitation, Dilated cardiomyopathy |
ORPHA:261250 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Elevated circulating creatine kinase concentration, Hypertrophic ca... |
OMIM:618775 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Bradycardia, Decreased plasma free carnitine, Congestive heart failure |
OMIM:619048 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal ... |
ORPHA:848 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular outflow tract obstruction, Inability to walk, Heart murmur, Transient ischemic a... |
ORPHA:365 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia, Neutropenia, Ataxia, Hyponatremia |
OMIM:616949 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Decreased transferrin s... |
ORPHA:300298 |
Neuroleptic Malignant Syndrome |
|
Chorea, Hypotension, Hyperphosphatemia, Hyperuricemia, Pulmonary embolism, Hypocalcemia, Hyperkal... |
ORPHA:94093 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome |
OMIM:617182 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... |
ORPHA:231226 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... |
ORPHA:66529 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Pulmonary arterial hypertension, Hyperprolinemia, Bradycardia, Hypergl... |
OMIM:616299 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Truncal ataxia, Bradycardia, Atrioventricular block |
OMIM:614407 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Increased red ce... |
OMIM:194380 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Gait disturbance, Arrhythmia, Sensory ataxia, Bradycardia, Cardiomyopathy |
OMIM:609286 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Hypertension, Re... |
ORPHA:90038 |
Timothy Syndrome |
|
Hypocalcemia, Bradycardia, Prolonged QT interval |
OMIM:601005 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decrea... |
ORPHA:231214 |
Long Qt Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Neonatal Lupus Erythematosus |
|
Anemia, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytopenia, Heart block, Abnorma... |
ORPHA:398124 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Necrotizing Enterocolitis |
|
Hypotension, Shock, Leukocytosis, Hyponatremia, Thrombocytopenia, Neutropenia, Bradycardia |
ORPHA:391673 |
Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... |
OMIM:614049 |
Muscular Dystrophy, Duchenne Type |
|
Tip-toe gait, Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Elevated circulatin... |
OMIM:310200 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy |
OMIM:618815 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Paresthesia, Hypokalemia, Hematochezia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Al Amyloidosis |
|
Anemia, Howell-Jolly bodies, Reduced left ventricular ejection fraction, Abnormal EKG, Postural h... |
ORPHA:85443 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood... |
OMIM:613845 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... |
OMIM:113900 |
Friedreich Ataxia |
|
Gait ataxia, Abnormal EKG, Limb ataxia, Congestive heart failure, Ataxia, Impaired proprioception... |
OMIM:229300 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Athetosis |
ORPHA:621 |
Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... |
OMIM:611819 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiac arrest, Elevated circulating creatine kinase concentration, Premature ventri... |
OMIM:212138 |
Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Abnormal EKG, Syncope, Increased blood urea nitrogen, Orthostatic hypotension, Elevated c... |
ORPHA:230 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... |
ORPHA:75565 |
Polycythemia Vera |
|
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... |
OMIM:263300 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... |
OMIM:614022 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... |
OMIM:617222 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis |
OMIM:617948 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
Pearson Syndrome |
|
Anemia, Hyperalaninemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Reticulocytosis, Pancytopen... |
ORPHA:699 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... |
OMIM:601494 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
Atrial Standstill 2 |
|
Hyperpepsinogenemia I, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia,... |
OMIM:615745 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Imp... |
ORPHA:811 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Bradycardia |
OMIM:614654 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Sepsis In Premature Infants |
|
Hypotension, Anemia, Tachycardia, Elevated circulating C-reactive protein concentration, Leukocyt... |
ORPHA:90051 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... |
OMIM:163800 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval |
OMIM:220400 |
Long Qt Syndrome 14 |
|
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... |
OMIM:616247 |
Marburg Hemorrhagic Fever |
|
Hypotension, Reticulocytosis, Elevated circulating creatine kinase concentration, Pericarditis, S... |
ORPHA:99826 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... |
OMIM:255160 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... |
OMIM:115200 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... |
ORPHA:330001 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:95717 |
Colchicine Poisoning |
|
Hypotension, Hypovolemia, Cardiogenic shock, Hypophosphatemia, Hypokalemia, Congestive heart fail... |
ORPHA:31824 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Hyperalaninemia, Bradycardia |
OMIM:614702 |
Refractory Celiac Disease |
|
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... |
ORPHA:2041 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... |
OMIM:133100 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... |
OMIM:611777 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... |
OMIM:616959 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... |
OMIM:618278 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Chorea, Right bundle branch block, Tip-toe gait, Reduced left ventricular ejection fraction, Abno... |
ORPHA:268 |
Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Increased pulmonary capillary wedge pressure, Abn... |
ORPHA:97292 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Elevated circulating creatine kinase concentration, Loss of ambulation, Palpitations, Di... |
OMIM:616812 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Leukopenia, Anemia, Pulmonary embolism, Hemolytic anemia, Unconjugated... |
ORPHA:447 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome |
ORPHA:542306 |
Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... |
OMIM:613980 |
Long Qt Syndrome 6 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... |
OMIM:613693 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Truncal ataxia, Limb ataxia, Broad-based gait, Persistence of hemoglobin F |
OMIM:617101 |
Drug-Induced Lupus Erythematosus |
|
Anemia, Elevated circulating creatine kinase concentration, Pericarditis, Increased blood urea ni... |
ORPHA:231111 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Macrocytic anemia, Reticulocytopenia, Normochromic a... |
OMIM:615550 |
Acitretin/Etretinate Embryopathy |
|
Bradycardia, Third degree atrioventricular block, Hypoplasia of the thymus |
ORPHA:40366 |
Congenital Sialidosis Type 2 |
|
Telangiectasia, Abnormal EKG, Ataxia, Hepatosplenomegaly, Dysmetria |
ORPHA:93400 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia |
OMIM:612527 |
Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... |
OMIM:609040 |
Glutamine Deficiency, Congenital |
|
Hyperammonemia, Bradycardia, Hypoglutaminemia |
OMIM:610015 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
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 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
Brugada Syndrome 9 |
|
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation |
OMIM:616399 |
Atrial Fibrillation, Familial, 3 |
|
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... |
OMIM:607554 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Epistaxis, Thrombocytopenia, Neutrop... |
ORPHA:88 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depression, Congesti... |
ORPHA:90065 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Paresthesia, Decreased circulating renin level, Hypokalemia, Hypertension, Intra... |
ORPHA:231625 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Abnormal circulating creatine kinase concentration, Right bundle branch block, T-wave inversion, ... |
ORPHA:263297 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated circulating creatine kinase concentration, Tachycardia, Prolonged QT interval, Hypertrig... |
OMIM:613327 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Bradycardia, Tachycardia |
ORPHA:70587 |
Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... |
ORPHA:1329 |
Long Qt Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... |
OMIM:192500 |
Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... |
OMIM:611875 |
Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... |
OMIM:613507 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Tetanus |
|
Tachycardia, Bradycardia, Hypertension, Elevated circulating creatine kinase concentration |
ORPHA:3299 |
Brugada Syndrome 7 |
|
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:95716 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop... |
ORPHA:2330 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... |
ORPHA:3261 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... |
OMIM:615441 |
Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Leukopenia, Macrocytic anemia, Reticulocytopenia |
OMIM:612528 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Gitelman Syndrome |
|
Abnormal T-wave, Paresthesia, Hypokalemia, Prominent U wave, Low-to-normal blood pressure, Raynau... |
ORPHA:358 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Abnormal EKG, Ataxia, Elevated circulating crea... |
ORPHA:480864 |
Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Hypotension, Neutrophilia, Epistaxis, Elevated cir... |
ORPHA:91547 |
Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Paresthesia,... |
ORPHA:79277 |
Rett Syndrome |
|
Abnormal T-wave, Gait ataxia, Gait apraxia, Truncal ataxia, Prolonged QTc interval |
OMIM:312750 |
Lujo Hemorrhagic Fever |
|
Hypotension, Leukopenia, Myocarditis, Lymphopenia, Shock, Elevated circulating C-reactive protein... |
ORPHA:319213 |
Gitelman Syndrome |
|
Hypotension, Paresthesia, Hypokalemia, Increased circulating renin level, Ataxia, Prolonged QT in... |
OMIM:263800 |
Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal T-wave, Hyperphosphatemia, Sinus tachycardia, Abnormal pulse pressure, ST s... |
ORPHA:466650 |
Atrial Septal Defect, Ostium Primum Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Right bundle branch block, Third heart so... |
ORPHA:99106 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia |
ORPHA:1055 |
Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia,... |
ORPHA:37553 |
Illum Syndrome |
|
Bradycardia, Calcinosis |
OMIM:208155 |
Sheehan Syndrome |
|
Palpitations, Hyponatremia, Orthostatic hypotension, Bradycardia, Normochromic anemia |
ORPHA:91355 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Congestive heart failure, Autoimmune hemolytic anemia, Tachycardia, Sp... |
ORPHA:90037 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Dilated Cardiomyopathy With Ataxia |
|
Normochromic microcytic anemia, Dilated cardiomyopathy, Ataxia, Hypochromic microcytic anemia, Pr... |
ORPHA:66634 |
Castleman Disease |
|
Anemia, Restrictive cardiomyopathy, Decreased mean corpuscular volume, Elevated circulating C-rea... |
ORPHA:160 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... |
ORPHA:439232 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... |
OMIM:619897 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation |
OMIM:615378 |
Transcobalamin Ii Deficiency |
|
Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Ataxia, Macrocytic anemia, Neutropenia |
OMIM:275350 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Lymphopenia, Hypoproteinemia, Decreas... |
ORPHA:90362 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Paresthesia, Ventricular arrhythmia, Abnormal left ventri... |
ORPHA:36913 |
Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Anemia, Tachycardia, Hyponatremia |
ORPHA:79273 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Tip-toe gait, Loss of ambulation, Bradycardia |
ORPHA:565624 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Paresthesia, Calcinosis, Prolonged QT interval, Hypocalce... |
ORPHA:94090 |
Dextrocardia |
|
T-wave inversion, Abnormality of the spleen, Abnormal EKG |
ORPHA:1666 |
Snakebite Envenomation |
|
Hypotension, Cerebral ischemia, Cardiogenic shock, Intracranial hemorrhage, Epistaxis, Myocardial... |
ORPHA:449285 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Elevated circulating creatine kinase concentration, Abnormal left ve... |
ORPHA:99827 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Hypokalemia, Anemia, Hypertension |
OMIM:611489 |
Glossopharyngeal Neuralgia |
|
Bradycardia, Syncope, Dysesthesia, Jaw claudication |
ORPHA:221098 |
Myofibrillar Myopathy 10 |
|
Increased QRS voltage, Prolonged QTc interval, Elevated circulating creatine kinase concentration |
OMIM:619040 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Increased red blood cell mass, Cerebral hemorrhage,... |
OMIM:263400 |
Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... |
OMIM:603830 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Paresthesia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyp... |
OMIM:601198 |
East Syndrome |
|
Inability to walk, Hypokalemia, Increased circulating renin level, Ataxia, Difficulty walking, Hy... |
ORPHA:199343 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... |
OMIM:300835 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... |
ORPHA:216694 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
D-Glyceric Aciduria |
|
Bradycardia, Nonketotic hyperglycinemia |
OMIM:220120 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, T-wave inversi... |
OMIM:601214 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia, Tachycardia |
ORPHA:90036 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Anemia, Hypophosphatemia, Elevated circulating creatine kinase concentration, Mildly elevated cre... |
OMIM:619743 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Transient i... |
ORPHA:99103 |
Yellow Fever |
|
Reduced left ventricular ejection fraction, Hyperbilirubinemia, Neutrophilia, Supraventricular ar... |
ORPHA:99829 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Concentric hypertrophi... |
OMIM:618052 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Congestive heart failure, Autoimmune hemolytic anemia, Tachycardia, S... |
ORPHA:90033 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Noncompaction cardiomyopathy, Lymphopen... |
ORPHA:508542 |
Lead Poisoning |
|
Somatic sensory dysfunction, Abnormal T cell morphology, Anemia, Hypertension, Imbalanced hemoglo... |
ORPHA:330015 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Short Qt Syndrome 1 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... |
OMIM:609620 |
Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... |
OMIM:300257 |
Proximal Spinal Muscular Atrophy |
|
Bradycardia, Difficulty walking, Inability to walk |
ORPHA:70 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Bradycardia, Dilated cardiomyopathy |
OMIM:610768 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Abnormal circulating A-type atrial natriuretic peptide concen... |
ORPHA:57777 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Abnormality of blood circulation, Cardiac shunt, Hear... |
ORPHA:860 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Stiff-Person Syndrome |
|
Tachycardia, Anemia, Hypertension |
OMIM:184850 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
Scorpion Envenomation |
|
Myocarditis, Paresthesia, T-wave inversion, Cardiogenic shock, Hypokalemia, Prominent U wave, Bun... |
ORPHA:466677 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Autosomal Dominant Hypocalcemia |
|
Hypotension, Hyperphosphatemia, Paresthesia, Congestive heart failure, Arrhythmia, Hypocalcemia, ... |
ORPHA:428 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Dysdiadochokinesis, Hypokalemia, Increased circulating renin level, Ataxia, Hypertension, Hypomag... |
OMIM:612780 |
Tempi Syndrome |
|
Increased hematocrit, Telangiectasia, Intracranial hemorrhage, Polycythemia |
ORPHA:284227 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphati... |
ORPHA:98849 |
Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Anemia, Somatic sensory dysfunction, Hypertension, ... |
ORPHA:79473 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Polycy... |
OMIM:613280 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... |
ORPHA:300751 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology |
ORPHA:2522 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Increased total iron binding capacity, Hyperglycinemia, Dysdiadochokinesis, Truncal... |
ORPHA:309854 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Increased blood urea nitrogen, Hypomagnesemia, Atrial fibrillation |
OMIM:223360 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Elevated circulating creatin... |
ORPHA:26793 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Gait ataxia, Torsade de pointes, Elevated circulating acylcarnitine concentration, Cardiac arrest... |
OMIM:616878 |
African Trypanosomiasis |
|
Somatic sensory dysfunction, Third degree atrioventricular block, Paresthesia, Akinesia, Abnormal... |
ORPHA:3385 |
Congenital Aortic Valve Stenosis |
|
Sudden cardiac death, Abnormal T-wave, Increased QRS voltage, Reduced left ventricular ejection f... |
ORPHA:3093 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Elevated amniotic fluid alpha-fetoprotein |
ORPHA:423479 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
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Prolonged PR interval, Atrial fibrillation |
OMIM:108900 |
Short Qt Syndrome 7 |
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Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation |
OMIM:620231 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Elevated circulating creatine kinase concentration |
OMIM:615351 |
Hamamy Syndrome |
|
Prolonged QRS complex, Mitral regurgitation, Microcytic anemia, Hypochromic anemia |
OMIM:611174 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ... |
ORPHA:37042 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:90673 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Anemia, Bradycardia, Dilated cardiomyopathy, Abnormal blood ion concentration |
ORPHA:79404 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, Prominent U wave, Syncope, Prolonged QT interval, Palpitations, Bidirectional ventri... |
OMIM:170390 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Bradycardia, Hypertension, Tachycardia |
OMIM:614653 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia |
ORPHA:99867 |
Carney Triad |
|
Anemia, Hypertension, Gastrointestinal hemorrhage, Arrhythmia, Tachycardia |
ORPHA:139411 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Intracranial hemorrhage, Hypertension, Epistaxis, Prolonged QT interval |
ORPHA:251274 |
Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
Ethylene Glycol Poisoning |
|
Hypotension, Hyperkalemia, Congestive heart failure, Ataxia, Hypertension, Shock, Prolonged QT in... |
ORPHA:31826 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia, Hypercholeste... |
ORPHA:90674 |
Alternating Hemiplegia Of Childhood |
|
Chorea, Abnormal T-wave, Choreoathetosis, Ataxia, Cardiac conduction abnormality, Arrhythmia, Car... |
ORPHA:2131 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Palpitations, Tachycardia |
OMIM:188580 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia, Bradycardia |
OMIM:617248 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration,... |
OMIM:145600 |
Diamond-Blackfan Anemia 10 |
|
Steroid-responsive anemia, Anemia, Macrocytic anemia, Reticulocytopenia |
OMIM:613309 |
Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Syncope, Angina pectoris, Congestive heart failure, Arrhythmia, Pr... |
ORPHA:1686 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia |
OMIM:616418 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Fanconi Anemia, Complementation Group E |
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Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:600901 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Anemia, Syncope, Tachycardia |
ORPHA:71273 |
Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ejection fractio... |
ORPHA:980 |
Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:227650 |
Friedreich Ataxia 2 |
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Concentric hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure, Ataxia, Impaired ... |
OMIM:601992 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Cocaine Intoxication |
|
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent... |
ORPHA:90068 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Paresthesia, Calcinosis, Prolonged QT interval, Hypocalce... |
ORPHA:94089 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Pearson Marrow-Pancreas Syndrome |
|
Anemia, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Sideroblastic ane... |
OMIM:557000 |
Bohring-Opitz Syndrome |
|
Bradycardia, Inability to walk |
ORPHA:97297 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, Congestive heart failure, Thrombocytosis, Tricuspid stenosis, Thrombocytopenia... |
OMIM:105650 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Hypercalcemia, Ep... |
OMIM:171420 |
Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Anemia, Hyperphosphatemia, Hyperkalemia, Intracranial hemorrhage, Internal hemorrhag... |
ORPHA:340 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypomagnesemia |
OMIM:619908 |
Fanconi Anemia, Complementation Group C |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:227645 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Hypocalcemic tetany, Congestive heart failure, Dilated cardiomyopathy, Hypo... |
ORPHA:73224 |
Dpagt1-Cdg |
|
Anemia, Akinesia, Inability to walk, Intracranial hemorrhage, Ataxia, Prolonged QT interval |
ORPHA:86309 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation |
OMIM:261990 |
Hepatocellular Carcinoma |
|
Hypotension, Anemia, Hypokalemia, Hyperbilirubinemia, Polycythemia, Internal hemorrhage, Thromboc... |
ORPHA:88673 |
Brugada Syndrome 4 |
|
Shortened QT interval, Atrial fibrillation, Syncope |
OMIM:611876 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Gait disturbance, Elevated circulating creatine concentration, Broad-based... |
OMIM:300352 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Paresthesia, Hypokalemia, Low-to-normal blood pressure, Increas... |
OMIM:601678 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased C-peptide level, Increased circulating free fatty acid level, Decreased plasma carnitin... |
ORPHA:71212 |
Steinert Myotonic Dystrophy |
|
Supraventricular tachycardia, Falls, Inability to walk, Gait disturbance, Dilated cardiomyopathy,... |
ORPHA:273 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hyperbilirubinemia, Bradycardia |
OMIM:218700 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Sinus bradycardia |
OMIM:618397 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Choreoathetosis, Hyperlipidemia |
OMIM:241080 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Abnormal circulating thyroglobulin level, Bradycardia |
ORPHA:226307 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Hyperphosphatemia, Paresthesia, Calcinosis, Prolonged QT interval, Hypocalce... |
ORPHA:79444 |
Fanconi Anemia, Complementation Group D2 |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:227646 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Hyperphosphatemia, Paresthesia, Calcinosis, Choreoathetosis, Hypertension, P... |
ORPHA:79443 |
Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Paresthesia, Hypokalemia, Low-to-normal blood pressure, Increas... |
OMIM:241200 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave |
ORPHA:444072 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Choreoathetosis, Hyperlipidemia |
ORPHA:3464 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Bradycardia, Pulmonary insufficiency |
OMIM:614437 |
Bartter Syndrome Type 4 |
|
Hypokalemia, Increased circulating renin level, Hypertension, Hypochloremia, Hyponatremia, Hypoma... |
ORPHA:89938 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Decreased plasma carnitine, Hypophosphatemia, Hypokalemia, Hypophosp... |
OMIM:219800 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Facial telangiectasia, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectase... |
OMIM:600376 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Tip-toe gait, Hemolytic anemia, Ischemic stroke, Falls, Hypocalcemia, Hepatosplenomegaly, Portal ... |
OMIM:619503 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Difficulty walking, Sinus bradycardia |
OMIM:619482 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Hematemesis, Subarac... |
OMIM:187300 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Hypomagnesemia |
OMIM:248190 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pulmonary arterial hypertension, Prolonged QT interval |
OMIM:620029 |
Hypomagnesemia 3, Renal |
|
Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Abnormal circulating neopterin concentration, Hyperphenylalaninemia, Hypomagnesemia, Abnormal cir... |
ORPHA:1578 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Shortened QT interval, Hypercalcemia |
ORPHA:99880 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Parathyroid Carcinoma |
|
Hypophosphatemia, Shortened QT interval, Hypercalcemia |
ORPHA:143 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Polysplenia, Prolonged QT interval, Splenomegaly, Cardiomyopathy |
ORPHA:373 |
Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hyperuricemia, Hypermagnesemia |
ORPHA:469 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Pulmonic stenosis |
ORPHA:529962 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypertension, Hypercalcemia, Hematemesis, Shortened QT interval, Melena |
ORPHA:652 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia |
ORPHA:1772 |
Familial Hypocalciuric Hypercalcemia |
|
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:405 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, Prolonged QT interval, Hypertension, Hyperlipidemia |
ORPHA:99413 |
Turner Syndrome |
|
Myocardial infarction, Prolonged QT interval, Hypertension, Hyperlipidemia |
ORPHA:881 |
Mosaic Monosomy X |
|
Myocardial infarction, Prolonged QT interval, Hypertension, Hyperlipidemia |
ORPHA:99228 |
Monosomy X |
|
Myocardial infarction, Prolonged QT interval, Hypertension, Hyperlipidemia |
ORPHA:99226 |