Erythrocytosis, Familial, 3 |
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Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 8 |
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Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
Erythrocytosis, Familial, 4 |
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Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
Erythrocytosis, Familial, 7 |
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Increased hematocrit, Polycythemia |
OMIM:617981 |
Polycythemia Vera |
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Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Erythrocytosis, Familial, 1 |
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Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Anemia, Sideroblastic, 5 |
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Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Dehydrated Hereditary Stomatocytosis |
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Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... |
ORPHA:3202 |
Erythrocytosis, Familial, 2 |
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Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Opisthotonus, Polycythemia |
OMIM:250800 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
Tempi Syndrome |
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Increased hematocrit, Polycythemia |
ORPHA:284227 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
Hypermanganesemia With Dystonia 1 |
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Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Polycy... |
OMIM:613280 |
Hyperbilirubinemia, Shunt, Primary |
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Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate production, Sple... |
OMIM:237800 |
Glut1 Deficiency Syndrome 2 |
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Reduced haptoglobin level, Hemolytic anemia, Choreoathetosis, Reticulocytosis, Tremor, Dystonia, ... |
OMIM:612126 |
Primary Familial Polycythemia |
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Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Red Cell Phospholipid Defect With Hemolysis |
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Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
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Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
Dehydrated Hereditary Stomatocytosis 2 |
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Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Increased circulating free fatty acid level |
ORPHA:293964 |
Cyanosis, Transient Neonatal |
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Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
D-Glyceric Aciduria |
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Nonketotic hyperglycinemia, Increased circulating free fatty acid level, Hyperglycinemia |
ORPHA:941 |
Elliptocytosis 2 |
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Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
Gaisböck Syndrome |
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Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... |
ORPHA:90041 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
Spherocytosis, Type 2 |
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Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
Abcd Syndrome |
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Polycythemia |
OMIM:600501 |
Spherocytosis, Type 5 |
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Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... |
OMIM:612690 |
Overhydrated Hereditary Stomatocytosis |
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Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Spherocytosis, Type 4 |
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Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Sickle Cell Anemia |
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Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Increased C-peptide level, Increased circulating free fatty acid level, Decreased plasma carnitin... |
ORPHA:71212 |
Familial Pseudohyperkalemia |
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Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... |
ORPHA:90044 |
Cryohydrocytosis |
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Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Mandibuloacral Dysplasia |
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Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
Livedoid Vasculopathy |
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Anemia, Abnormal circulating lipid concentration, Hyperhomocystinemia, Polycythemia, Pancytopenia... |
ORPHA:542643 |
Spherocytosis, Type 1 |
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Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:182900 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Normocytic anemia, Hyperbilirubinemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenome... |
OMIM:235700 |
Overhydrated Hereditary Stomatocytosis |
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Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly |
OMIM:185000 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ... |
ORPHA:26793 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Increased total iron binding capacity, Hyperglycinemia, Abnormal blood inorganic cation concentra... |
ORPHA:309854 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Anemia of inadequate production, Splenomegaly, Reticulocytosis |
OMIM:224100 |
Glutamate-Cysteine Ligase Deficiency |
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Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly |
ORPHA:33574 |
Glycogen Storage Disease Vii |
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Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... |
OMIM:232800 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... |
OMIM:300908 |
Fumarase Deficiency |
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Hyperbilirubinemia, Polycythemia |
OMIM:606812 |
Sitosterolemia 1 |
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Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Elevate... |
OMIM:210250 |
Pyruvate Kinase Deficiency Of Red Cells |
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Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosi... |
OMIM:266200 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
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Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin concentration, Tremor |
ORPHA:713 |
Acute Interstitial Pneumonia |
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Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:274150 |
Congenital Disorder Of Glycosylation, Type Im |
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Increased circulating free fatty acid level |
OMIM:610768 |
Hereditary Elliptocytosis |
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Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... |
ORPHA:288 |
Hepatocellular Carcinoma |
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Anemia, Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hypercalcemia, Hyponatremi... |
ORPHA:88673 |
Harderoporphyria |
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Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Neonatal hyperbi... |
OMIM:618892 |
Duodenal Neuroendocrine Tumor |
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Increased hematocrit, Iron deficiency anemia |
ORPHA:100076 |
Poems Syndrome |
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Thrombocytosis, Polycythemia |
ORPHA:2905 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:235400 |
Thrombotic Thrombocytopenic Purpura |
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Thrombocytopenia, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis |
ORPHA:54057 |
Rh Deficiency Syndrome |
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Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... |
ORPHA:71275 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612926 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hemolytic anemia, Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular vo... |
OMIM:611590 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612925 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Increased red ce... |
OMIM:194380 |
Phosphoglycerate Kinase 1 Deficiency |
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Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:300653 |
Imerslund-Gräsbeck Syndrome |
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Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
Osteopetrosis, Autosomal Recessive 4 |
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Anemia, Thrombocytopenia, Splenomegaly, Reticulocytosis |
OMIM:611490 |
Von Hippel-Lindau Syndrome |
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Polycythemia |
OMIM:193300 |
Ogden Syndrome |
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Torticollis, Hyperbilirubinemia, Polycythemia, Iron deficiency anemia, Thrombocytopenia |
OMIM:300855 |
Hereditary Spherocytosis |
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Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Hyperb... |
ORPHA:822 |
Von Hippel-Lindau Disease |
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Polycythemia |
ORPHA:892 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... |
OMIM:618278 |
Beckwith-Wiedemann Syndrome |
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Polycythemia, Splenomegaly, Elevated circulating alpha-fetoprotein concentration |
ORPHA:116 |
Leukocyte Adhesion Deficiency |
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Acute myeloid leukemia, Impaired neutrophil chemotaxis, Polycythemia, Thrombocytosis, Leukocytosi... |
ORPHA:2968 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Reduced hematocrit, Normocytic anemia, Elevated circulating C-reactive protein concentration, Ele... |
ORPHA:91500 |
Paroxysmal Nocturnal Hemoglobinuria |
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Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,... |
ORPHA:447 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Reticulocytosis,... |
ORPHA:90038 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Anemia, Polycythemia |
OMIM:600376 |
Kasabach-Merritt Syndrome |
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Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop... |
ORPHA:2330 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Anemia, Polycythemia |
OMIM:187300 |
Congenital Erythropoietic Porphyria |
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Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hemolytic an... |
ORPHA:79277 |