| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia |
ORPHA:46532 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... |
ORPHA:90039 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic... |
OMIM:615631 |
| Acute Myelomonocytic Leukemia |
|
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia |
ORPHA:517 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Intrauterine growt... |
OMIM:266200 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly |
ORPHA:75563 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Skin ulcer, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglob... |
ORPHA:848 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Pallor, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, El... |
OMIM:615234 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro... |
OMIM:300751 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Leishmaniasis |
|
Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopenia, Leukopenia, Pa... |
ORPHA:507 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Pallor, Splenomeg... |
OMIM:194380 |
| Hb Bart'S Hydrops Fetalis |
|
Pallor, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia |
ORPHA:163596 |
| Elliptocytosis 1 |
|
Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia |
OMIM:611804 |
| Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hepatomegaly, Sideroblastic anemia, Elevated circulating hepatic transaminase concentration, Pallor |
OMIM:613561 |
| Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer... |
OMIM:254450 |
| Evans Syndrome |
|
Pallor, Autoimmune hemolytic anemia, Petechiae, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:1959 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Pancytopenia, Pallor, Megaloblastic anemia, Thrombocytopenia, ... |
OMIM:613839 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased ... |
ORPHA:231222 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Pallor |
ORPHA:56425 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volume, Abnor... |
ORPHA:98870 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Pallor, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia |
OMIM:611590 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pallor, Reticulocyto... |
ORPHA:300298 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Megaloblastic anemia, Thrombocytopenia |
ORPHA:49827 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia, Jaundice |
OMIM:246400 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi... |
ORPHA:35858 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Leukocytosis, Splenomegaly, Pallor, Thrombocytopenia, Hepatomegaly, Abnormal neut... |
ORPHA:3226 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphopenia, Hepa... |
ORPHA:331206 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231226 |
| Beta-Thalassemia Major |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231214 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... |
OMIM:600462 |
| Aregenerative Anemia |
|
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Pallor, Abnormal proportion of... |
ORPHA:101096 |
| Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Intrauteri... |
OMIM:301310 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice |
ORPHA:90033 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor |
ORPHA:99931 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Pearson Marrow-Pancreas Syndrome |
|
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc... |
OMIM:557000 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pallor, Chronic l... |
ORPHA:98849 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor, Autoimmune hemolytic anemia |
ORPHA:90036 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Anemic pallor, A... |
ORPHA:86839 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia |
ORPHA:276575 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
| Ollier Disease |
|
Micromelia, Abnormal cartilage morphology, Anemia, Multiple enchondromatosis, Abnormal metaphysis... |
ORPHA:296 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor |
ORPHA:276556 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Sepsis In Premature Infants |
|
Decreased liver function, Leukocytosis, Splenomegaly, Pallor, Petechiae, Hepatomegaly, Thrombocyt... |
ORPHA:90051 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor |
ORPHA:276580 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
| Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:324575 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Congenital Heart Block |
|
Intrauterine growth retardation, Pallor, Patent ductus arteriosus |
ORPHA:60041 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Pallor, Lipid ... |
ORPHA:20 |
| American Trypanosomiasis |
|
Hepatomegaly, Pallor, Splenomegaly |
ORPHA:3386 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Elevated circulating aspartate aminotransferase concentration, Pallor, Hepatomegaly, Elevated cir... |
OMIM:246450 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Pallor, Splenomegaly, Hepatomegaly, Leukemia, Abnormality of neutrophils, Purpura |
ORPHA:33226 |
| Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Pallor, Thrombocytosis |
ORPHA:134 |
| Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Pallor, Neutropenia |
OMIM:609053 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemia, Anemic pallor |
ORPHA:329971 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:600901 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Pallor, Pancreatic islet-cell hyperplasi... |
ORPHA:263455 |
| Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor, Hepatic cysts |
OMIM:616307 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:227650 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Intrauterine growth retardation, Anemia, Reticulocytopenia, Anemic pallor, Neutrope... |
OMIM:227645 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Thr... |
ORPHA:3260 |
| Fumarase Deficiency |
|
Intrahepatic cholestasis, Hepatic failure, Pallor, Polycythemia |
OMIM:606812 |
| Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pallor, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Hepatomegaly |
OMIM:277400 |
| Adenohypophysitis |
|
Pallor, Normochromic anemia |
ORPHA:95512 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Hepatic steatosis |
ORPHA:348 |
| Panhypophysitis |
|
Pallor, Normochromic anemia |
ORPHA:95513 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocyt... |
OMIM:227646 |
| Neuroblastoma |
|
Anemia, Anemic pallor, Thrombocytopenia |
ORPHA:635 |
| Tempi Syndrome |
|
Increased hematocrit, Facial erythema, Polycythemia |
ORPHA:284227 |
| Pituitary Apoplexy |
|
Pallor, Normochromic anemia |
ORPHA:95613 |
| Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Sheehan Syndrome |
|
Dry skin, Pallor, Normochromic anemia |
ORPHA:91355 |
| Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Von Hippel-Lindau Disease |
|
Polycythemia, Pallor, Pancreatic islet cell adenoma, Pancreatic cysts, Neoplasm of the pancreas |
ORPHA:892 |
| Incontinentia Pigmenti |
|
Erythema, Eosinophilia, Leukocytosis, Pallor |
OMIM:308300 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Anemia, Hepatomegaly, Pallor, Splenomegaly |
ORPHA:667 |
| Degcags Syndrome |
|
Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Intrauterine growth retardation, Pallo... |
OMIM:619488 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pallor, Leukocytosis, Pancreatitis, Thrombocytopenia, Hemolytic anemia |
ORPHA:544482 |
| Lethal Kniest-Like Dysplasia |
|
Flared metaphysis, Abnormal cartilage morphology, Mesomelic/rhizomelic limb shortening, Talipes e... |
ORPHA:2347 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
| Prolactinoma |
|
Pallor |
ORPHA:2965 |
| Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Pallor |
ORPHA:137675 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Enlarged metaphyses, Finger swelling, Spurred metaphyses of the upper limbs, Osteoarthritis of th... |
ORPHA:93284 |
| Goodpasture Syndrome |
|
Anemia, Pallor |
OMIM:233450 |
| Esophageal Atresia |
|
Pallor |
ORPHA:1199 |
| Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Pallor |
ORPHA:653 |
| Tsh-Secreting Pituitary Adenoma |
|
Pallor |
ORPHA:91347 |
| Multiple Osteochondromas |
|
Cervical myelopathy, Abnormal cartilage morphology, Abnormal tibia morphology, Abnormal hand morp... |
ORPHA:321 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Pallor, Patent ductus arteriosus |
ORPHA:99125 |
| Encephalocraniocutaneous Lipomatosis |
|
Abnormal cartilage morphology |
ORPHA:2396 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Splenomegaly |
OMIM:602557 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatosplenomegaly |
ORPHA:93352 |
