Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia, Opisthotonus |
OMIM:250800 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:222800 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus |
OMIM:610582 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit |
ORPHA:284227 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Pericardial Effusion, Chronic |
|
Polycythemia |
OMIM:260900 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus |
OMIM:618858 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Splenomegaly, Erythroid hyperplasia, Anemia of inadequate production |
OMIM:237800 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:613673 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... |
OMIM:224120 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... |
OMIM:615631 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... |
OMIM:616689 |
Hypermanganesemia With Dystonia 1 |
|
Polycythemia, Tremor |
OMIM:613280 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Splenomegaly |
OMIM:179700 |
Spherocytosis, Type 5 |
|
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly |
OMIM:612690 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... |
ORPHA:99886 |
Elliptocytosis 2 |
|
Reticulocytosis, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
Glut1 Deficiency Syndrome 2 |
|
Reticulocytosis, Tremor |
OMIM:612126 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Splenomegaly, Anemia of inadequate production |
OMIM:224100 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, E... |
OMIM:109270 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia |
OMIM:616649 |
Glutamate-Cysteine Ligase Deficiency |
|
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia |
ORPHA:33574 |
Gaisböck Syndrome |
|
Increased red blood cell count, Diabetes mellitus, Increased mean corpuscular hemoglobin concentr... |
ORPHA:90041 |
Spherocytosis, Type 4 |
|
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly |
OMIM:612653 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Livedoid Vasculopathy |
|
Leukocytosis, Polycythemia, Anemia, Diabetes mellitus, Pancytopenia |
ORPHA:542643 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly |
OMIM:314050 |
Poems Syndrome |
|
Polycythemia, Thrombocytosis, Diabetes mellitus |
ORPHA:2905 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Reticulocy... |
OMIM:235700 |
Spherocytosis, Type 1 |
|
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly |
OMIM:182900 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185000 |
Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
Fumarase Deficiency |
|
Polycythemia |
OMIM:606812 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... |
OMIM:300908 |
Duodenal Neuroendocrine Tumor |
|
Iron deficiency anemia, Increased hematocrit |
ORPHA:100076 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Reticulocytosis, Hemolytic anemia, Decreased hemoglobin concentration, Tremor |
ORPHA:713 |
Hepatocellular Carcinoma |
|
Thrombocytosis, Hypoglycemia, Type II diabetes mellitus, Polycythemia, Anemia, Thrombocytopenia |
ORPHA:88673 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit |
ORPHA:79126 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Glycogen Storage Disease Vii |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis |
OMIM:232800 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Polycythemia, Action tremor, Splenomegaly |
ORPHA:309854 |
Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Stomatocytosis, Splenomegaly, Poikilocytosis, Reticulocytosis, Abnor... |
ORPHA:288 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Hypoglycemia, Tremor |
OMIM:220111 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:54057 |
Phosphoglycerate Kinase 1 Deficiency |
|
Reticulocytosis, Hemolytic anemia |
OMIM:300653 |
Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Type II diabetes mellitus, Leukopenia, Insulin resistance, Insulin-resistan... |
ORPHA:2298 |
Pancreatic And Cerebellar Agenesis |
|
Hyperglycemia, Hypoglycemia, Anemia, Diabetes mellitus |
OMIM:609069 |
Von Hippel-Lindau Syndrome |
|
Polycythemia |
OMIM:193300 |
Harderoporphyria |
|
Reticulocytosis, Hemolytic anemia, Splenomegaly |
OMIM:618892 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume |
OMIM:611590 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Hepatosplenomegaly, Anisocytosi... |
ORPHA:71275 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin-resistant diabetes mellitus, Maternal diabetes, Hyperinsulinemia, Hyperglycemia |
OMIM:604367 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... |
OMIM:210250 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Increased red cell hemolysis by shear stress, Splenomegaly, Exercise-induced hemolysis, Increased... |
OMIM:194380 |
Necrotizing Enterocolitis |
|
Leukocytosis, Neutropenia, Hyperglycemia, Abnormal glucose homeostasis, Thrombocytopenia |
ORPHA:391673 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Chronic hemolytic anemia, Splenomegaly |
OMIM:266200 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Microangiopathic hemolytic anemia, Tremor, Reticulocytosis, Thrombocytopenia |
OMIM:274150 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
Leukocyte Adhesion Deficiency |
|
Leukocytosis, Thrombocytosis, Polycythemia, Hyperinsulinemic hypoglycemia, Acute myeloid leukemia... |
ORPHA:2968 |
Donohue Syndrome |
|
Hyperglycemia, Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia |
OMIM:246200 |
Hereditary Spherocytosis |
|
Anemia, Splenomegaly, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin concent... |
ORPHA:822 |
Beckwith-Wiedemann Syndrome |
|
Polycythemia, Neonatal hypoglycemia, Hypoglycemia, Splenomegaly |
ORPHA:116 |
Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Leukocytosis, Hypoglycemia, Thrombocytosis |
ORPHA:134 |
Von Hippel-Lindau Disease |
|
Polycythemia |
ORPHA:892 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul... |
OMIM:618278 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Short Syndrome |
|
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperglycemia |
OMIM:269880 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Anemia, Hypochromic microcytic anemia |
ORPHA:440713 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Hyperglycemia |
OMIM:608612 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:681 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Leukocytosis |
ORPHA:90065 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia |
OMIM:615954 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hyperglycemia, Diabetes mellitus, Splenomegaly |
ORPHA:465508 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Postprandial hyp... |
ORPHA:2088 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia |
OMIM:235400 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Polycythemia, Anemia |
OMIM:600376 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Impaired glucose tolerance, Hyperinsulinemia, Hyperglycemia |
OMIM:248370 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Normochromic anemia, Normocytic anemia |
ORPHA:91500 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Polycythemia, Anemia |
OMIM:187300 |
Kasabach-Merritt Syndrome |
|
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... |
ORPHA:2330 |
Rabson-Mendenhall Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Diabetic ketoacido... |
ORPHA:769 |
Mitchell-Riley Syndrome |
|
Hyperglycemia |
OMIM:615710 |
Pyruvate Carboxylase Deficiency |
|
Hyperglycemia, Hypoglycemia, Tremor |
ORPHA:3008 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Leukopenia, Erythroid hyperplasia, Anemia, Glycosuria, Reticulocytosis, Pancytopenia, Thrombocyto... |
ORPHA:447 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hyperglycemia |
OMIM:151660 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria |
ORPHA:99885 |
Scorpion Envenomation |
|
Hyperglycemia, Glycosuria, Tremor |
ORPHA:466677 |
Thyrotoxic Periodic Paralysis |
|
Tremor, Postprandial hyperglycemia |
ORPHA:79102 |
Leprechaunism |
|
Fasting hypoglycemia, Insulin resistance, Recurrent infantile hypoglycemia, Postprandial hypergly... |
ORPHA:508 |
Atypical Werner Syndrome |
|
Type II diabetes mellitus, Insulin-resistant diabetes mellitus, Hyperglycemia, Glycosuria, Fastin... |
ORPHA:79474 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hyperglycemia |
ORPHA:444077 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hyperglycemia, Diabetes mellitus, Glycosuria |
OMIM:600001 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperglycemia |
ORPHA:293987 |