| Malaria |
|
Anemia, Retinopathy, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, T... |
ORPHA:673 |
| Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate production, Sple... |
OMIM:237800 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration, Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder, Bradycardia, Sick sinus syndrome |
OMIM:617182 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
| Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
| Rotor Syndrome |
|
Hyperbilirubinemia, Conjunctival icterus, Conjugated hyperbilirubinemia |
ORPHA:3111 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia, Wide nasal bridge |
OMIM:609924 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Splenomegaly, Conjugated hyperbiliru... |
OMIM:620010 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Splenom... |
OMIM:619868 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... |
ORPHA:3202 |
| Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... |
OMIM:601775 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Optic atrophy, Epicanthus, Ptosis, Hypoplasia of the fovea, Upslanted palpebral fissure |
OMIM:620086 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Epicanthus, Dysphagia |
OMIM:616276 |
| Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Pulmonary arterial hypertension, Hyperprolinemia, Bradycardia, Hypergl... |
OMIM:616299 |
| Hyperlysinemia, Type I |
|
Hyperlysinemia, Anemia, Hyperactivity |
OMIM:238700 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, S... |
ORPHA:101016 |
| Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... |
OMIM:616201 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... |
ORPHA:71275 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Ptosis, Hypocholesterolemia, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia, Wide nasal bridge |
OMIM:209970 |
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
Leber optic atrophy, Optic atrophy |
OMIM:308905 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Elevated circulating creatine kinase concentration, Hypertrophic ca... |
OMIM:618775 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... |
ORPHA:158057 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... |
OMIM:616860 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Bradycardia, Decreased plasma free carnitine, Congestive heart failure |
OMIM:619048 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Abnormal macular morphology, Increased LDL cholesterol concentrat... |
OMIM:607616 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Congestive heart failure, Autoimmune hemolytic anemia, Tachycardia, Sp... |
ORPHA:90037 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:616278 |
| Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Hypotension, Neutrophilia, Epistaxis, Elevated cir... |
ORPHA:91547 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... |
OMIM:601494 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia, Hypertension |
OMIM:166990 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hemop... |
OMIM:603552 |
| Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
| Tako-Tsubo Cardiomyopathy |
|
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... |
ORPHA:66529 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Optic atrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Bradycardia |
OMIM:614702 |
| Atrial Standstill 2 |
|
Hyperpepsinogenemia I, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia,... |
OMIM:615745 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
| Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
| Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Megaloblastic anemia, Optic atrophy, Cardiac arrest, Retinal dystr... |
ORPHA:49827 |
| Infantile Sialic Acid Storage Disease |
|
Epicanthus, Congestive heart failure, Ptosis, Vacuolated lymphocytes, Splenomegaly, Conjugated hy... |
OMIM:269920 |
| Cln3 Disease |
|
Pigmentary retinopathy, Optic atrophy, T-wave inversion, Bull's eye maculopathy, Dysphagia, Brady... |
ORPHA:228346 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Hypertension |
OMIM:189800 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Polycythemia Vera |
|
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... |
OMIM:263300 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Hyperbilirubinemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenome... |
OMIM:235700 |
| Refractory Anemia |
|
Abnormal cardiac ventricular function, Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macr... |
ORPHA:98826 |
| Tetanus |
|
Abnormal autonomic nervous system physiology, Hypertension, Elevated circulating creatine kinase ... |
ORPHA:3299 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiac arrest, Elevated circulating creatine kinase concentration, Premature ventri... |
OMIM:212138 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... |
OMIM:232800 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... |
ORPHA:288 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Retinal dystrophy, Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin co... |
ORPHA:713 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... |
OMIM:614022 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:182900 |
| Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
| Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Epistaxis, Anemia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:616176 |
| Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Wide nasal bridge, Short nose, Hyperammonemia, Bradycardia |
OMIM:610015 |
| Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis, Myocardial infarc... |
ORPHA:54057 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... |
ORPHA:247598 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
| Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Neonatal hyperbi... |
OMIM:618892 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... |
OMIM:617222 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:95717 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly |
OMIM:185000 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosi... |
OMIM:266200 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Unilateral ptosis, Hyperactivity, Optic atrophy |
OMIM:300928 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Gastrointestinal hemorrhage |
ORPHA:2924 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Bradycardia |
OMIM:614654 |
| Trimethylaminuria |
|
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... |
OMIM:163800 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... |
OMIM:115200 |
| Leber Hereditary Optic Neuropathy |
|
Optic atrophy, Retinal vascular tortuosity, Retinal telangiectasia, Arrhythmia, Ventricular preex... |
ORPHA:104 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia, Tachycardia |
ORPHA:90036 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration, Sideroblastic anemia, Thiamine-resp... |
OMIM:249270 |
| Leber Congenital Amaurosis 13 |
|
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... |
OMIM:612712 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... |
OMIM:300908 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
| Intracranial Hypertension, Idiopathic |
|
Papilledema, Hypertension |
OMIM:243200 |
| Elliptocytosis 2 |
|
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... |
OMIM:267700 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Sensory axonal neuropathy, Ptosis, Dysphagia, Bradycardia, Cardiomyopathy |
OMIM:609286 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Peripheral axonal neuropathy, Optic atrophy, Cardiomyopathy |
ORPHA:320360 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Sideroblastic anemia, Hypertension, Arrhythmia |
OMIM:617021 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
| Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Anemia, Epicanthus, Normocytic anemia, Hyperbilirubinemia, Elevated ci... |
OMIM:611881 |
| Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Gastrointestinal hemorrhage, Portal hypert... |
ORPHA:64743 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Retinal hemorrhage, Abnormal ... |
ORPHA:86839 |
| Bachmann-Bupp Syndrome |
|
Downslanted palpebral fissures, Blepharophimosis, Hyperbilirubinemia, Ptosis, Attention deficit h... |
OMIM:619075 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy |
OMIM:618815 |
| Neuroleptic Malignant Syndrome |
|
Hypotension, Abnormal autonomic nervous system physiology, Elevated circulating creatine kinase c... |
ORPHA:94093 |
| Acitretin/Etretinate Embryopathy |
|
Abnormal retinal morphology, Third degree atrioventricular block, Hypoplasia of the thymus, Epica... |
ORPHA:40366 |
| 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 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Optic atrophy, Hyperammonemia, Macrocytic anemia, Thrombocytopenia, Cardiomyo... |
ORPHA:27 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Epi... |
OMIM:155100 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Anemia, Thrombocytopenia |
ORPHA:295 |
| Sitosterolemia 1 |
|
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Impaire... |
OMIM:210250 |
| Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri... |
ORPHA:822 |
| Platelet Signal Processing Defect |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Epi... |
OMIM:173590 |
| Transaldolase Deficiency |
|
Anemia, Telangiectasia, Hepatosplenomegaly, Increased serum bile acid concentration, Abnormal cir... |
ORPHA:101028 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Increased circulating ferritin concentration, Hemophagocytosis, Throm... |
OMIM:613101 |
| Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Retinal degeneration, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... |
ORPHA:542306 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Raynaud phenomenon, Lymphopenia, Autoimmune thrombocytopenia, Hypertensive crisis, Op... |
OMIM:301080 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:95716 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia |
OMIM:214900 |
| Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
| Timothy Syndrome |
|
Hypocalcemia, Bradycardia, Prolonged QT interval |
OMIM:601005 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration, Steatorrhea, D... |
OMIM:615558 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto... |
OMIM:187800 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Optic atrophy, Hyperammonemia, Thrombocytopenia, Neutropenia, Splenomegaly, Cardiomyopathy |
ORPHA:79312 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Epistaxis, Increased RBC distribution width, Thr... |
OMIM:314050 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Hyperbilirubinemia, Heart block, Capilla... |
ORPHA:542323 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal conjunctiva morphology, Hemolytic anemia, Abnormal auditory evoked potentials, Conjuncti... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal conjunctiva morphology, Hemolytic anemia, Abnormal auditory evoked potentials, Conjuncti... |
ORPHA:529799 |
| Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Abnormal autonomic nervous sy... |
ORPHA:330001 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Elevated circulating creatine kinase concentration, Pericarditis, Increased blood urea ni... |
ORPHA:231111 |
| Necrotizing Enterocolitis |
|
Hypotension, Shock, Leukocytosis, Hyponatremia, Thrombocytopenia, Neutropenia, Bradycardia |
ORPHA:391673 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Anemia, Pancytopenia, Diffuse alveolar hemorrhage, Increased c... |
OMIM:616050 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Elevated circulating cre... |
OMIM:615184 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
| Rh-Null, Regulator Type |
|
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system physiology, Sideroblastic ... |
OMIM:598500 |
| Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Decreased nerve conduction velocity, Thrombo... |
OMIM:159550 |
| Illum Syndrome |
|
Bradycardia, Calcinosis |
OMIM:208155 |
| Gray Platelet Syndrome |
|
Epistaxis, Thrombocytopenia, Splenomegaly, Abnormality of thrombocytes |
ORPHA:721 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Raynaud phenomenon, Hypertension, Abnormal platelet aggregation |
ORPHA:401945 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Long eyebrows, Bradycardia, Atrioventricular block |
OMIM:614407 |
| Abetalipoproteinemia |
|
Anemia, Decreased LDL cholesterol concentration, Rod-cone dystrophy, Hyperbilirubinemia, Keratoco... |
ORPHA:14 |
| Snakebite Envenomation |
|
Hypotension, Neuromuscular dysphagia, Cerebral ischemia, Cardiogenic shock, Pseudobulbar paralysi... |
ORPHA:449285 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Attention deficit hyperactivity disorder, Thrombocyto... |
OMIM:619151 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Abnormal autonomic nervous system physiology, Bradycardia, Optic atrophy |
OMIM:614498 |
| Pontocerebellar Hypoplasia Type 10 |
|
Optic atrophy, Wide nasal bridge, Long eyelashes, Long palpebral fissure, Highly arched eyebrow |
ORPHA:411493 |
| Preeclampsia |
|
Elevated systolic blood pressure, Hypertension, Elevated circulating creatinine concentration, Th... |
ORPHA:275555 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Optic atrophy, Reticulocytosis, Thrombocytopenia, Optic disc pallor, Splenomegaly, Facial... |
OMIM:611490 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Optic atrophy, Hyperammonemia, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul... |
OMIM:603553 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets |
OMIM:137560 |
| Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abn... |
ORPHA:85451 |
| Retinitis Pigmentosa 71 |
|
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... |
OMIM:616394 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... |
OMIM:133100 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Ischemic stroke, Raynaud phenomenon, Hypertension, Dysphagia, Thrombocytopenia |
OMIM:615750 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Congenital bilateral ptosis, Ptosis, Neonatal hyperbilirubinemia, Attention defici... |
ORPHA:73272 |
| Neonatal Lupus Erythematosus |
|
Anemia, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytopenia, Heart block, Abnorma... |
ORPHA:398124 |
| Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Thrombocytopenia, Congestive heart failure, Dysphagia |
OMIM:619751 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Optic atrophy, Hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hepatosplenomegaly, Hypoch... |
OMIM:259720 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Elevated circulating creatine kinase concentration, Palpitations, Second degree atrioven... |
OMIM:616812 |
| Wolfram Syndrome 1 |
|
Megaloblastic anemia, Optic atrophy, Sideroblastic anemia, Ptosis, Dysphagia, Thrombocytopenia, P... |
OMIM:222300 |
| Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... |
ORPHA:439232 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
| Xq25 Microduplication Syndrome |
|
Sparse eyebrow, Hyperactivity, Epicanthus, Abnormality of the palpebral fissures, Highly arched e... |
ORPHA:521258 |
| Glycine Encephalopathy |
|
Restlessness, Impulsivity, Hyperactivity, Hyperglycinemia |
OMIM:605899 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated circulating creatine kinase concentration, Tachycardia, Prolonged QT interval, Dysphagia... |
OMIM:613327 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Leukopenia, Anemia, Pulmonary embolism, Hemolytic anemia, Unconjugated... |
ORPHA:447 |
| Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal ... |
ORPHA:848 |
| Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
| Glossopharyngeal Neuralgia |
|
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Syncope, Schwannoma, Jaw c... |
ORPHA:221098 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Optic atrophy, Thrombocytopenia, Splenomegaly, Facial palsy |
OMIM:615085 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyebrow, Increased circulating free fatty acid level, Dilated cardiomyopathy, Sparse eyela... |
OMIM:610768 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... |
OMIM:246700 |
| Sepsis In Premature Infants |
|
Hypotension, Anemia, Tachycardia, Elevated circulating C-reactive protein concentration, Leukocyt... |
ORPHA:90051 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Abnormal retinal morphology, Optic atrophy, Facial palsy, Elevated circulating creatine kinase co... |
ORPHA:254886 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
| Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor |
OMIM:609021 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Bradycardia, Tachycardia |
ORPHA:70587 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
| Hsd10 Mitochondrial Disease |
|
Optic atrophy, Retinal degeneration, Elevated circulating tiglylglycine concentration, Agitation,... |
OMIM:300438 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Hyperbilirubinemia, Pulmonic stenosis, Elevated circulating creatine kinase c... |
OMIM:614300 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:615285 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia |
OMIM:613554 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617243 |
| Bernard-Soulier Syndrome |
|
Epistaxis, Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets, Macrothrombocytopenia,... |
OMIM:231200 |
| Lathosterolosis |
|
Downslanted palpebral fissures, Wide nasal bridge, Abnormal circulating cholesterol concentration... |
OMIM:607330 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
| Distal Xq28 Microduplication Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Epistaxis, Impulsivity, Neonatal hyperbilirubinemia, Attention... |
ORPHA:293939 |
| Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia |
OMIM:210500 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia, Congestive heart failure, Telangiectasia of the skin |
ORPHA:141179 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin |
OMIM:618528 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Vitreous hemorrhage, Cerebral hemorrhage, Hyperbilirubinemia, Intracranial he... |
ORPHA:464321 |
| D-Glyceric Aciduria |
|
Bradycardia, Nonketotic hyperglycinemia, Optic nerve hypoplasia |
OMIM:220120 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Vasculitis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating... |
OMIM:308240 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Increased C-peptide level, Decreased circulating free fatty acid level, Syncope, Agitation, Hyper... |
ORPHA:276556 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia, Elevated circulating creatine kinase concentration |
OMIM:614727 |
| Intermediate Osteopetrosis |
|
Anemia, Cranial nerve compression, Optic atrophy from cranial nerve compression, Hypocalcemia, He... |
ORPHA:210110 |
| Thrombocytopenia 5 |
|
Epistaxis, Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... |
OMIM:619897 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormal serum bile acid concentration, Hyperbilirubinemia, Steatorrhea, Extramedullary hematopoi... |
ORPHA:79303 |
| Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Thrombocytopenia |
OMIM:212350 |
| Rhabdoid Tumor |
|
Anemia, Hypertension, Internal hemorrhage, Hypercalcemia, Thrombocytopenia |
ORPHA:69077 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Incre... |
OMIM:613011 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration, Wide nasal bridge, ... |
OMIM:614886 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... |
OMIM:612926 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... |
OMIM:612924 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Thrombocytopenia, Facial palsy |
OMIM:616435 |
| Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:607921 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia |
OMIM:615715 |
| Fumarase Deficiency |
|
Hyperbilirubinemia, Polycythemia, Optic atrophy |
OMIM:606812 |
| Immunodeficiency 46 |
|
Conjunctivitis, Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... |
OMIM:616834 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Retinal pigment epithelial atrophy, Anemia, Retinal atrophy, Elliptocytosis, Decreased serum iron... |
OMIM:616959 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia, Congestive heart failure, Telangiectasia of the skin |
ORPHA:141184 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Leukopenia, Myocarditis, Lymphopenia, Shock, Elevated circulating C-reactive protein... |
ORPHA:319213 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, ... |
OMIM:614857 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Telecanthus, Wide nasal bridge, Optic atrophy, Epicanthus, Chorioretinal hypo... |
OMIM:617303 |
| Retinitis Pigmentosa 57 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613582 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Th... |
OMIM:251880 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Attention deficit hyperact... |
ORPHA:90674 |
| Squalene Synthase Deficiency |
|
Decreased LDL cholesterol concentration, Epicanthus, Optic nerve hypoplasia, Elevated circulating... |
OMIM:618156 |
| Hypermanganesemia With Dystonia 1 |
|
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity, Polycy... |
OMIM:613280 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Increased C-peptide level, Decreased circulating free fatty acid level, Syncope, Agitation, Hyper... |
ORPHA:276575 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia, Splenomegaly, Steatorrhea |
OMIM:235555 |
| Sarcosinemia |
|
Hypertrophic cardiomyopathy, Hypersarcosinemia, Pulmonic stenosis, Optic atrophy |
ORPHA:3129 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Cerebellar hemorrhage, Elevated circulating acylcarnitine concentration, De... |
ORPHA:99901 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia, Decreased circulating cortisol level, Polyphagia |
OMIM:609734 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... |
OMIM:226990 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Wolcott-Rallison Syndrome |
|
Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Neutrope... |
ORPHA:1667 |
| Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:243300 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... |
OMIM:612925 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Elevated circulating creatine kinase concentration, Abnormal left ve... |
ORPHA:99827 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Abnormal eyelid morphology, Sinus tachycardia, Neutropenia in presence of anti-neu... |
ORPHA:525731 |
| Myopathy With Extrapyramidal Signs |
|
Hyperlysinemia, Hyperactivity, Optic atrophy, Epicanthus, Elevated circulating creatine kinase co... |
OMIM:615673 |
| Tularemia |
|
Conjunctivitis, Anemia, Leukocytosis, Thrombocytopenia, Tachycardia, Conjunctival hyperemia |
ORPHA:3392 |
| Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly,... |
ORPHA:507 |
| Babesiosis |
|
Leukopenia, Hemolytic anemia, Congestive heart failure, Myocardial infarction, Thrombocytopenia, ... |
ORPHA:108 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... |
OMIM:619662 |
| Marburg Hemorrhagic Fever |
|
Hypotension, Reticulocytosis, Elevated circulating creatine kinase concentration, Pericarditis, S... |
ORPHA:99826 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Hypertension, Re... |
ORPHA:90038 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly |
OMIM:615010 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Steatorrhea, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:607765 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia, Cardiomyopathy |
ORPHA:67048 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati... |
OMIM:261740 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
| Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... |
OMIM:614916 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Downslanted palpebral fissures, Anemia, Bilateral ptosis, Heart murmur, Hyperbilirubinemia, Hypoc... |
ORPHA:163979 |
| Hepatocellular Carcinoma |
|
Hypotension, Anemia, Hypokalemia, Hyperbilirubinemia, Polycythemia, Internal hemorrhage, Thromboc... |
ORPHA:88673 |
| Retinitis Pigmentosa 62 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:614181 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Mildly elevated creatine kinase, Ptosis, Peripheral axonal neuropathy, Cardiomyopathy |
ORPHA:401768 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
| Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
| Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
| Yellow Fever |
|
Reduced left ventricular ejection fraction, Hyperbilirubinemia, Neutrophilia, Supraventricular ar... |
ORPHA:99829 |
| Retinitis Pigmentosa 11 |
|
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... |
OMIM:600138 |
| Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Neonatal hyperbilirubinemia |
OMIM:609727 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Optic atrophy, Elevated circulating ... |
ORPHA:96180 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia, Hematochezia, Decreased serum bile acid concentration |
OMIM:214950 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Pulmonary arterial hypertension, Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood... |
OMIM:613845 |
| Acquired Purpura Fulminans |
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Intracranial hemorrhage, Internal hemorrhage, Shock, Elevated circulating C-reactive protein conc... |
ORPHA:49566 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Sparse eyebrow, Wide nasal bridge, Hypertrophic cardiomyopathy, Peripheral axonal neuropathy, Hyp... |
OMIM:618810 |
| Pearson Marrow-Pancreas Syndrome |
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Anemia, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Sideroblastic ane... |
OMIM:557000 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
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Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia |
ORPHA:95715 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
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Cerebellar hemorrhage, Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Hyperammonemia, Throm... |
OMIM:251000 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
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Epistaxis, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:211600 |
| Potocki-Lupski Syndrome |
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Hypocholesterolemia, Downslanted palpebral fissures, Hyperactivity, Oral-pharyngeal dysphagia |
OMIM:610883 |
| Pseudo-Von Willebrand Disease |
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Intermittent thrombocytopenia |
OMIM:177820 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
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Hyperbilirubinemia |
ORPHA:101009 |
| Roch-Leri Mesosomatous Lipomatosis |
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Thrombocytopenia |
ORPHA:529 |
| Chromosome Xq13 Duplication Syndrome |
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Short palpebral fissure, Hyperactivity, Medial flaring of the eyebrow, Sparse lateral eyebrow, Ep... |
OMIM:301069 |
| Slc35A1-Cdg |
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Pulmonary hemorrhage, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Dk Phocomelia Syndrome |
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Thrombocytopenia |
OMIM:223340 |
| Idiopathic Aplastic Anemia |
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Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Epistaxis, Thrombocytopenia, Neutrop... |
ORPHA:88 |
| Thrombocytopenia 4 |
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Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Caroli Syndrome |
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Leukopenia, Hypersplenism, Hyperbilirubinemia, Conjunctival icterus, Leukocytosis, Portal hyperte... |
ORPHA:480520 |
| Leigh Syndrome With Leukodystrophy |
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Anemia, Optic atrophy, Hypertrophic cardiomyopathy, Ptosis, Pigmentary retinopathy |
ORPHA:255241 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
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Portal hypertension, Thrombocytopenia, Increased circulating ferritin concentration, Hepatospleno... |
ORPHA:210136 |
| Hypothyroidism Due To Tsh Receptor Mutations |
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Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:90673 |
| Macrophage Activation Syndrome |
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Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Increased circulating ferritin ... |
ORPHA:158061 |
| Zika Virus Disease |
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Conjunctivitis, Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atro... |
ORPHA:448237 |
| Stormorken Syndrome |
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Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Epista... |
OMIM:185070 |
| Congenital Heart Defects, Multiple Types, 3 |
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Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
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Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:613151 |
| Thrombocytopenia, Paris-Trousseau Type |
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Ptosis, Thrombocytopenia |
OMIM:188025 |
| Dengue Fever |
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Hypotension, Leukopenia, Cerebral hemorrhage, Epistaxis, Hypoproteinemia, Gastrointestinal hemorr... |
ORPHA:99828 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Microangiopathic hemolytic anemia, Hypertension, Reticulocytosis, Increased blood urea nitrogen, ... |
OMIM:235400 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
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Poikilocytosis, Epistaxis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthoc... |
OMIM:300367 |
| Wt Limb-Blood Syndrome |
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Thrombocytopenia, Leukemia, Pancytopenia, Hypoplastic anemia |
OMIM:194350 |
| Ogden Syndrome |
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Torsade de pointes, Wide nasal bridge, Epicanthus, Premature atrial contractions, Dysphagia, Thro... |
OMIM:300855 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Macrocytic anemia, T... |
OMIM:300835 |
| Pseudo-Torch Syndrome 3 |
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Anemia, Cerebral hemorrhage, Hypertension, Increased circulating ferritin concentration, Leukocyt... |
OMIM:618886 |
| Retinitis Pigmentosa 81 |
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Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... |
OMIM:617871 |
| Wiskott-Aldrich Syndrome 2 |
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Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| Retinitis Pigmentosa 73 |
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Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... |
OMIM:616544 |
| Riboflavin Transporter Deficiency |
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Abnormal autonomic nervous system physiology, Hypertension, Ptosis, Dysphagia, Abnormal cranial n... |
ORPHA:97229 |
| Sea-Blue Histiocytosis |
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Sea-blue histiocytosis, Retinopathy, Thrombocytopenia, Splenomegaly, Blepharitis |
ORPHA:158029 |
| Tangier Disease |
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Anemia, Hepatosplenomegaly, Facial diplegia, Peripheral axonal neuropathy, Ectropion, Hypocholest... |
ORPHA:31150 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
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Transient ischemic attack, Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood ur... |
OMIM:274150 |
| Microphthalmia, Isolated 5 |
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Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
| Intellectual Developmental Disorder, X-Linked 21 |
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Hyperactivity, Synophrys, Short nose, Impulsivity, Upslanted palpebral fissure |
OMIM:300143 |
| Gaucher Disease, Type I |
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Pulmonary arterial hypertension, Anemia, Hypersplenism, Macular atrophy, Hypertension, Pancytopen... |
OMIM:230800 |
| Propionic Acidemia |
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Cerebellar hemorrhage, Anemia, Hyperglycinemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, N... |
OMIM:606054 |
| Congenital Erythropoietic Porphyria |
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Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hemolytic an... |
ORPHA:79277 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Pulmonary arterial hypertension, Leukopenia, Anemia, Telecanthus, Tricuspid regurgitation, Conjun... |
ORPHA:505248 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Increased total bilirubin, Antenatal intracerebral hemorrhage, Decreased plasma free carnitine, E... |
OMIM:608836 |
| Immunodeficiency 97 With Autoinflammation |
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Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
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Dysphagia, Cardiomyopathy, Optic atrophy, Abnormal EKG |
ORPHA:1177 |
| Long Qt Syndrome 3 |
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Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... |
OMIM:603830 |
| Graft Versus Host Disease |
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Hyperbilirubinemia, Hemophagocytosis, Tachycardia, Hepatosplenomegaly |
ORPHA:39812 |
| Transcobalamin Deficiency |
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Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia |
ORPHA:859 |
| Bile Acid Synthesis Defect, Congenital, 3 |
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Hyperbilirubinemia, Hematochezia, Splenomegaly, Steatorrhea |
OMIM:613812 |
| Noonan Syndrome 12 |
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Supravalvular aortic stenosis, Thrombocytopenia, Lymphopenia |
OMIM:618624 |
| Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Increased LDL cholesterol con... |
OMIM:278000 |
