Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... |
OMIM:237800 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Persistence of hemoglobin F, Hepatomegaly, Abnormal bone structure, Splenomegaly |
ORPHA:46532 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Jaundice, Hyperbilirubinemia, Increased serum bile acid concentration, Cholestasis, Hepatomegaly,... |
OMIM:620010 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hypertrophic cardiomyopathy... |
OMIM:613673 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Cirrhosis, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Increased serum bile acid c... |
OMIM:619868 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Jaundice, Portal fib... |
OMIM:616278 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Osteopenia, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Anemia, Thrombocytopenia, Hyperbilirubinemia |
ORPHA:673 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Sp... |
OMIM:616649 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, ... |
OMIM:235700 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal cardiac septum morphology, Decreased skull ossification, Thrombocytopenia, Abnor... |
ORPHA:3319 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Hepatomegaly, Sp... |
OMIM:185000 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Sp... |
OMIM:182900 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Intermittent jaun... |
ORPHA:3202 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Prostate... |
ORPHA:158057 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Neonatal hyperbi... |
OMIM:618892 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reti... |
OMIM:266200 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... |
ORPHA:288 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Ch... |
ORPHA:848 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Osteopenia, Prolonged neonatal jaundice, Increased serum bile ac... |
OMIM:619256 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hyperlipidemia, Hepatomegaly, Splenomega... |
OMIM:214900 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Jaundice, Fava bean-induced hemolytic anemia, Reti... |
OMIM:300908 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration, Hepatomegaly |
OMIM:619874 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly, Conjugated... |
OMIM:269920 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... |
ORPHA:846 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Abnormal liver parenchyma morpholo... |
ORPHA:64743 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... |
OMIM:601775 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... |
OMIM:603552 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:1802 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... |
OMIM:618963 |
Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia |
ORPHA:79235 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:607616 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... |
OMIM:267700 |
Hemochromatosis, Type 2B |
|
Anemia, Splenomegaly, Cirrhosis, Hepatic fibrosis, Hypogonadism, Elevated transferrin saturation,... |
OMIM:613313 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Splenomegaly, Hepatomegaly |
OMIM:619175 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
Mu-Heavy Chain Disease |
|
Anemia, Splenomegaly, Abnormal B cell count, Osteolysis, Lymphadenopathy, Hepatomegaly, Osteoporosis |
ORPHA:100024 |
Hereditary Spherocytosis |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolyti... |
ORPHA:822 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Jaundice, Acholic stools, Steatorrhea, Intrahepatic cholestasis, Rickets, Giant cell h... |
OMIM:607765 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticu... |
ORPHA:71275 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... |
OMIM:232800 |
Crigler-Najjar Syndrome Type 1 |
|
Abnormality of the liver, Unconjugated hyperbilirubinemia, Biliary tract abnormality, Neonatal hy... |
ORPHA:79234 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Hypogonadism, Elevated transferrin saturation, Azoospermia, Poikilocytosis, Decreased mea... |
OMIM:615234 |
Rotor Syndrome |
|
Intermittent jaundice, Storage in hepatocytes, Hyperbilirubinemia, Jaundice, Conjugated hyperbili... |
ORPHA:3111 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... |
ORPHA:247598 |
Cyanosis, Transient Neonatal |
|
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia |
OMIM:613977 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hemoph... |
OMIM:613101 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Rickets, Osteopenia, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... |
OMIM:211600 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Dubin-Johnson Syndrome |
|
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality |
OMIM:237500 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Jaundice, Hyperbilirubinemia, Steatorrhea, Intrahepatic cholestasis, Hepatomegaly, Splenomegaly |
OMIM:235555 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Jaundice, Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia, Jaundice |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:606785 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Anemia, Normocytic anemia, Hyperbilirubinemia, Jaundice, Elevated circ... |
OMIM:611881 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Pancytopenia, Hepatosplenomegaly, Lympha... |
OMIM:603553 |
Hyperbilirubinemia, Rotor Type |
|
Jaundice, Conjugated hyperbilirubinemia |
OMIM:237450 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:228312 |
Edinburgh Malformation Syndrome |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:129850 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormal serum bile acid concentration, Hyperbilirubinemia, Jaundice, Steatorrhea, Rickets, Hepat... |
ORPHA:79303 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:218800 |
Cystic Echinococcosis |
|
Peritoneal abscess, Hepatic cysts, Abnormality of the testis size, Cholestatic liver disease, Abn... |
ORPHA:400 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... |
OMIM:601847 |
Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc... |
OMIM:210500 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... |
OMIM:617514 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Abnormality of the pancreas, Polycystic liver disease, Hepatomegaly |
ORPHA:2924 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Anisopoikilocytosis, Myelofibrosis, Thrombocytopenia, Splenomegaly |
OMIM:617441 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Ascites, Jaundice, Hepatomegaly |
ORPHA:890 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Osteopetrosis, Increased bone mineral density, Hyperbilirubinemia, Hypocalcemia, Pancytop... |
OMIM:259720 |
Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:612126 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... |
OMIM:614470 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Sple... |
ORPHA:231222 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Cirrhosis, Microvesicular hepatic steatosi... |
OMIM:605814 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
X-Linked Sideroblastic Anemia |
|
Anemia, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
Elliptocytosis 2 |
|
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Hepatomegaly, Thrombocytopenia, Osteopetrosis, Splenomegaly |
OMIM:615085 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Cirrhosis, Hepatitis, Hyperbilirubinemia, Jaundice, Acholic stools, Steatorrhea, Hepatic bridging... |
OMIM:613812 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Hepatomegaly, Eosi... |
OMIM:607685 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:614480 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis |
OMIM:269600 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
Rh-Null, Regulator Type |
|
Stomatocytosis, Jaundice, Hemolytic anemia, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Cirrhosis, Hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Bile duct proliferation, Cholestasis |
ORPHA:79302 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Cirrhosis, Increased total iron binding capacity, Unconjugated hyperbilirubine... |
OMIM:613280 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Hyperbilir... |
OMIM:251880 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... |
OMIM:209950 |
Bile Acid Conjugation Defect 1 |
|
Rickets, Jaundice, Conjugated hyperbilirubinemia, Hepatomegaly |
OMIM:619232 |
Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly, Reduced bone mineral density |
ORPHA:172 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly, Rickets of the lower limbs |
ORPHA:882 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... |
OMIM:612840 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Abnormality of the liver, Exocrine pancreatic insufficiency, Lymph... |
ORPHA:1667 |
Schnitzler Syndrome |
|
Anemia, Increased bone mineral density, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly |
ORPHA:37748 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615010 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Increased bone mineral density, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Osteopet... |
OMIM:611490 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin, Ascites, Polycystic liver disease |
OMIM:174050 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... |
OMIM:613011 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Jaundice, Steatorrhea, Osteopenia, Hepatomegaly, Calvarial hyp... |
OMIM:612714 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Jaundice, Cholestasis, Hepatomegaly |
OMIM:618528 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Increased serum bile acid concentration, Hepatomegaly, Intrahepatic choles... |
OMIM:243300 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Cholestatic liver disease, Decreased circulating ceruloplasmin concentration, Elevated... |
OMIM:616828 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Galactosemia Iii |
|
Jaundice, Hypergalactosemia, Splenomegaly, Hepatomegaly |
OMIM:230350 |
Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Neutrophilia, Elevated circulating C-rea... |
ORPHA:91547 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Unconjugated hyperbi... |
OMIM:618278 |
Hemochromatosis, Type 2A |
|
Splenomegaly, Cirrhosis, Azoospermia, Dilated cardiomyopathy, Increased circulating ferritin conc... |
OMIM:602390 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Anemia, Splenomegaly, Hepatomegaly |
OMIM:618107 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:143500 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Hyperkalemia, Hepatomegaly, Splenomegaly, Conjugated ... |
OMIM:608885 |
Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatome... |
OMIM:300635 |
Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:507 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly... |
OMIM:618398 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... |
OMIM:613179 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Generalized lymphadenopathy, Autoimmune thrombocytopenia, Hepatosplenomeg... |
OMIM:615559 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly |
ORPHA:2204 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Jaundice, Elevated circulating gamma-aminobutyric acid concentration, Hepatic b... |
OMIM:619658 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... |
ORPHA:2585 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel... |
OMIM:602450 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Bone marrow hypocellularity, Increa... |
OMIM:618849 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Ascites, Splen... |
OMIM:271500 |
Tangier Disease |
|
Chronic noninfectious lymphadenopathy, Anemia, Coronary artery stenosis, Left ventricular hypertr... |
ORPHA:31150 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... |
OMIM:612526 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Hepatosplenomegaly, In... |
OMIM:618534 |
Congenital Toxoplasmosis |
|
Anemia, Ascites, Jaundice, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thrombocytopenia |
ORPHA:858 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Hypoplasia of penis, Hypospadias, Ascites, Splenomegaly |
ORPHA:1046 |
Cholesteryl Ester Storage Disease |
|
Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
ORPHA:75234 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
Abetalipoproteinemia |
|
Anemia, Decreased LDL cholesterol concentration, Hepatic fibrosis, Cirrhosis, Hyperbilirubinemia,... |
ORPHA:14 |
Sitosterolemia 1 |
|
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Elevate... |
OMIM:210250 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
OMIM:306000 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly, ... |
ORPHA:79312 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... |
OMIM:300853 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Jaund... |
OMIM:194380 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Elevated circulating alpha-fetopro... |
OMIM:619662 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... |
OMIM:226990 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
Caroli Syndrome |
|
Leukopenia, Cirrhosis, Periportal fibrosis, Liver abscess, Hypersplenism, Hyperbilirubinemia, Jau... |
ORPHA:480520 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Hyperuricemia, Abnormality of the pancreas, Abnormality of the li... |
ORPHA:543 |
Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Osteolysis, Lymphadenopathy, He... |
ORPHA:100026 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Lathosterolosis |
|
Bilobate gallbladder, Abnormal circulating cholesterol concentration, Anisopoikilocytosis, Ambigu... |
OMIM:607330 |
Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomega... |
ORPHA:98848 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Anemia, Pancytopenia, Increased circulating ferritin concentra... |
OMIM:616050 |
Proteus Syndrome |
|
Thin bony cortex, Facial hyperostosis, Lymphangioma, Calvarial hyperostosis, Splenomegaly, Mandib... |
OMIM:176920 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Splenomegaly, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease,... |
ORPHA:79301 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Abnormality of the male genitalia, Hyperbilirubinemia, Abnormal co... |
OMIM:614886 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Hyperalaninemia, Increased serum pyruvate, Macrocytic anemia, Hyperprolinemia, Splenomegaly, Card... |
OMIM:619046 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Intrahepatic biliary atresia, Patent foramen ovale, Ventricular septal defect, Jaundice, Atrial s... |
OMIM:208085 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:615558 |
Wilson Disease |
|
Anemia, Cirrhosis, Hemolytic anemia, Osteomalacia, Decreased circulating ceruloplasmin concentrat... |
OMIM:277900 |
Pearson Marrow-Pancreas Syndrome |
|
Anemia, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Sideroblastic ane... |
OMIM:557000 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Hepatitis, Lymphadenopathy, Inc... |
ORPHA:158061 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... |
OMIM:308240 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Leukocytosis |
OMIM:611762 |
Griscelli Syndrome Type 2 |
|
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hyperlipidemia, Hepatomegaly, Neutrope... |
ORPHA:79477 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Jaundice, Abnormal circulating ... |
ORPHA:567983 |
Caroli Disease |
|
Cholelithiasis, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Liver absces... |
ORPHA:53035 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Hyperbilirubinemia, Secundum atrial septal defect, Portal fibrosis, Elevated ... |
OMIM:614300 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Increased hepatic echogenic... |
OMIM:278000 |
Galactose Epimerase Deficiency |
|
Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
Hemochromatosis, Type 1 |
|
Splenomegaly, Cirrhosis, Azoospermia, Hepatocellular carcinoma, Testicular atrophy, Osteoporosis,... |
OMIM:235200 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Unilateral cryptorchidism, Macrocytic anemia, Increased mean corpusc... |
OMIM:300946 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Myelofibrosis, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis,... |
OMIM:301078 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Hypopl... |
OMIM:619151 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia |
ORPHA:90036 |
Fish-Eye Disease |
|
Lymphadenopathy, Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Abnormal testis morphology, ... |
ORPHA:54251 |
Dubin-Johnson Syndrome |
|
Abnormality of the liver, Jaundice, Biliary tract abnormality, Hepatomegaly, Conjugated hyperbili... |
ORPHA:234 |
Graft Versus Host Disease |
|
Hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Chronic hepa... |
ORPHA:39812 |
Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:610333 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia |
OMIM:616299 |
Autoimmune Hepatitis |
|
Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepati... |
ORPHA:2137 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... |
ORPHA:231226 |
Primary Myelofibrosis |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytosis, Leukoc... |
ORPHA:824 |
Hepatocellular Carcinoma |
|
Hemobilia, Anemia, Abnormality of the liver, Liver abscess, Hepatic necrosis, Hypokalemia, Hyperb... |
ORPHA:88673 |
Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy, Hemolytic anemia, Hepatomegaly |
ORPHA:56425 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... |
OMIM:603554 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... |
ORPHA:231214 |
Follicular Lymphoma |
|
Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:545 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia |
OMIM:605479 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:98293 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Reduced serum alpha-1-antitrypsin, Hepatocellular carcinoma, Splenomegaly |
OMIM:613490 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Hyperuricemia, Splenomegaly, Hepatomegaly |
OMIM:261750 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hemolytic an... |
ORPHA:79277 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:618495 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia, Decreased serum bile acid concentration, Intrahepatic cholestasis, Giant cell... |
OMIM:214950 |
Wolman Disease |
|
Anemia, Steatorrhea, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:75233 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Spontaneous hemolytic crises, Jaundice, Hepatosplenomegaly, Conjugated hyperbilir... |
ORPHA:168577 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, ... |
OMIM:618886 |
Fumarase Deficiency |
|
Hyperbilirubinemia, Polycythemia, Cholestasis |
OMIM:606812 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Prolonged neonatal... |
ORPHA:95717 |
Elliptocytosis 1 |
|
Elliptocytosis, Splenomegaly, Hemolytic anemia, Jaundice |
OMIM:611804 |
Babesiosis |
|
Leukopenia, Hemolytic anemia, Jaundice, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:108 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... |
OMIM:603909 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal... |
ORPHA:529808 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... |
OMIM:207750 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase ... |
OMIM:618838 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... |
OMIM:615387 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Lymphaden... |
OMIM:614034 |
Gaucher Disease, Type Iii |
|
Thrombocytopenia, Splenomegaly, Pancytopenia, Hepatomegaly |
OMIM:231000 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Abnormality of the liver, Hyperbilirubinemia, Osteolysis involving bones of the upper limbs, Oste... |
ORPHA:464321 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Jaundice, Hyperbilirubinemia, Hepatomegaly, Macrovesicular hepa... |
OMIM:613070 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... |
OMIM:612561 |
Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Ambiguous genitalia, Bifid scrotum, Hypospadias, Male pseudohermaphroditism,... |
OMIM:250790 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas... |
OMIM:615122 |
Senior-Boichis Syndrome |
|
Increased total bilirubin, Anemia, Hepatic fibrosis, Cirrhosis, Malformation of the hepatic ducta... |
ORPHA:84081 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Calvarial osteosclerosis, Increased bone mineral density, Hypocalcemia, Pancytopenia, Hep... |
OMIM:259700 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Jaundice, Giant cell hepatitis, Hepatomegaly, Cholestatic liver diseas... |
OMIM:613404 |
Reynolds Syndrome |
|
Biliary cirrhosis, Calcinosis, Hyperbilirubinemia, Jaundice, Lymphopenia, Steatorrhea, Cholestasi... |
OMIM:613471 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... |
OMIM:613470 |
Griscelli Syndrome |
|
Leukopenia, Abnormal circulating lipid concentration, Hepatitis, Jaundice, Abnormality of neutrop... |
ORPHA:381 |
Cinca Syndrome |
|
Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Lymphadenopathy, Elevated ci... |
ORPHA:1451 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Jaundice, Acholic stools, Bile duct prolifer... |
ORPHA:30391 |
Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Cirrhosis, Pericardial effusion, Hypersplenism, Increased bone mineral densit... |
ORPHA:77259 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Prolonged neonatal jaundice, Osteoporosis, Lymphadenopathy, Bone-marrow f... |
OMIM:257200 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Splenomegaly, Hepatomegaly |
OMIM:617068 |
Transaldolase Deficiency |
|
Patent foramen ovale, Anemia, Hepatic fibrosis, Cirrhosis, Ventricular septal defect, Pancytopeni... |
OMIM:606003 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt... |
OMIM:619824 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Splenomegaly |
ORPHA:664 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Bilateral cryptorchidism, Increased serum bile acid concentration, Hyperbilirubinemia, Intrahepat... |
OMIM:619685 |
Congenital Rubella Syndrome |
|
Anemia, Ventricular septal defect, Jaundice, Atrial septal defect, Hepatomegaly, Thrombocytopenia... |
ORPHA:290 |
Hardikar Syndrome |
|
Portal inflammation, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Splenomegaly, Patent for... |
OMIM:301068 |
Sickle Cell Disease |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Leuko... |
OMIM:603903 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology, Hepatomegaly |
ORPHA:2584 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hepatic steatosis, Hypocholesterolemia, Increased hepatocellul... |
ORPHA:71 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Hepatomegaly, Portal hyperte... |
OMIM:619463 |
Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:42642 |
Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Hepatitis, Neutrophilia, Generalized lymphadenopathy, P... |
ORPHA:829 |
Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr... |
OMIM:602347 |
Essential Thrombocythemia |
|
Abnormal platelet morphology, Splenomegaly, Myelofibrosis, Acute leukemia |
ORPHA:3318 |
Classic Hodgkin Lymphoma |
|
Osteolysis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly |
ORPHA:391 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Peritonitis, Ret... |
ORPHA:90038 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Anemia, Ventricular septal defect, Hyperbilirubinemia, Hypocalcemia, Atrial s... |
ORPHA:163979 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Neuraminidase Deficiency |
|
Epiphyseal stippling, Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lym... |
OMIM:256550 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Abnormal heart valve morphology, Cardiomy... |
ORPHA:93476 |
Felty Syndrome |
|
Anemia, Pericarditis, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thr... |
ORPHA:47612 |
Neonatal Lupus Erythematosus |
|
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytop... |
ORPHA:398124 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Craniosynostosis, Hypoalbuminemia |
ORPHA:88643 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Cardiomegaly, Decreased plasma free carnitine, Enlarged kidney, Elevat... |
OMIM:608836 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli... |
ORPHA:3226 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Portal inflammation, Elevated circulating alpha-fetoprotein concentr... |
OMIM:619991 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Hepatomegaly, Hypocholesterolemia,... |
OMIM:266510 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Ventricular septal defect, Elevated circulating phytanic acid concentration, Increased circulatin... |
OMIM:614866 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... |
OMIM:607594 |
Tangier Disease |
|
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci... |
OMIM:205400 |
Systemic-Onset Juvenile Idiopathic Arthritis |
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Pericarditis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegal... |
ORPHA:85414 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice, Conjugated hyperbilirubinemia |
ORPHA:95715 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Hepatocellular adenoma, Abnormal erythrocyte enzyme level, Hepatocel... |
ORPHA:370 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly |
OMIM:240500 |
Familial Thyroid Dyshormonogenesis |
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Abnormal circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Neona... |
ORPHA:95716 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Jaundice,... |
ORPHA:276 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Farber Lipogranulomatosis |
|
Osteolytic defects of the phalanges of the hand, Osteolysis involving bones of the feet, Lipogran... |
OMIM:228000 |
Hyperlipoproteinemia, Type I |
|
Jaundice, Pancreatitis, Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemi... |
OMIM:238600 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Anemia, Hepatic fibrosis, Cirrhosis, Hepatocellular adenoma, Abnormal erythrocyte enzyme level, P... |
ORPHA:264580 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... |
OMIM:246700 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Squalene Synthase Deficiency |
|
Decreased LDL cholesterol concentration, Bicuspid aortic valve, Bilateral cryptorchidism, Elevate... |
OMIM:618156 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly, Myelofibrosis, Abnormal number of alpha granules |
OMIM:139090 |
Autoimmune Hemolytic Anemia |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:98375 |
Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... |
ORPHA:90041 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Hypertriglyceridemia, Splen... |
OMIM:617591 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Myelofibrosis... |
ORPHA:86843 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Hemolytic anemia, Lymphopenia, Hepatosplenomegaly, Acute pancreatitis, Lymphadenop... |
OMIM:618935 |
Castleman Disease |
|
Anemia, Restrictive cardiomyopathy, Jaundice, Generalized lymphadenopathy, Myelofibrosis, Decreas... |
ORPHA:160 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... |
ORPHA:540 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Cirrhosis, Jaundice, Elevated circulating alpha-fetoprotein concentration, Hyperammonemia, Ascite... |
OMIM:617049 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:609981 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia, Osteoporosis, Hypogonadism |
ORPHA:73272 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia, Decreased circulating cortisol level, Cholestasis |
OMIM:609734 |
Mcleod Syndrome |
|
Reduced haptoglobin level, Dilated cardiomyopathy, Elevated circulating creatine kinase concentra... |
OMIM:300842 |
Tempi Syndrome |
|
Increased hematocrit, Ascites, Polycythemia |
ORPHA:284227 |
Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Increased circulating NT-proBNP... |
ORPHA:85451 |
Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Decreased LDL cholesterol concentration, Pancreatitis, Hyperlipoproteinem... |
OMIM:615947 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... |
ORPHA:158048 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Anemia, Hepatic fibrosis, Cirrhosis, Hepatocellular adenoma, Hepatocellular carcinoma, Elevated c... |
ORPHA:79240 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia, Cryptorchidism |
OMIM:619075 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Cirrhosis, Microvesicular hepatic steatosis, Hyperbilirubinemia, Jaundice, Hy... |
OMIM:617156 |
Fetal Gaucher Disease |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Abnormality of the spleen, Splenomegaly |
ORPHA:85212 |
Gaucher Disease, Type I |
|
Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Aortic valve stenosis, Thrombocytopenia, Splen... |
OMIM:230800 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Pancytopenia, Persis... |
OMIM:260400 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Periportal fibrosis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis |
OMIM:619484 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Jaundice, Increased circulating very long-chain fatty acid concentration, Intrahepatic cholestasi... |
OMIM:614887 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Thin bony cortex, Anemia, Cirrhosis, Unconjugated hyperbilirubinemia, Pancytopenia, Rickets, Hepa... |
OMIM:613658 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Increased hepatic glycogen content, Bile duct proliferation, Hepatomegaly, Hypertrigly... |
OMIM:613027 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormality of the pancreas, Jaundice, Hyperbilirubinemia, Cholecystitis, Increased serum bile ac... |
ORPHA:69665 |
Omenn Syndrome |
|
Anemia, Lymphadenopathy, Leukocytosis, Eosinophilia, Hepatomegaly, Splenomegaly, Abnormal lymphoc... |
ORPHA:39041 |
Myelofibrosis |
|
Splenomegaly, Myelofibrosis, Myeloproliferative disorder |
OMIM:254450 |
Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Dense calvaria, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Degcags Syndrome |
|
Ambiguous genitalia, Hepatosplenomegaly, Hepatomegaly, Patent foramen ovale, Ventricular septal d... |
OMIM:619488 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Neutrophilia, Osteolysis, Periostitis, Elevated circulating C-reactive protein concentration, Ost... |
OMIM:612852 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Hypospadias, Microcytic anemia, Cryptorchidism |
ORPHA:98791 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg... |
OMIM:616100 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:619183 |
Primary Biliary Cholangitis |
|
Biliary cirrhosis, Abnormal circulating lipid concentration, Hepatic fibrosis, Cirrhosis, Hepatit... |
ORPHA:186 |
Cranioectodermal Dysplasia 2 |
|
Patent foramen ovale, Biliary cirrhosis, Polysplenia, Hyperbilirubinemia, Left ventricular hypert... |
OMIM:613610 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Increased size of nasopharyngeal adenoids, Atrial septal defect, Persi... |
OMIM:619769 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cirrhosis, Abnormality of iron homeostasis, Elevated transferrin saturation, Hepatocellular carci... |
ORPHA:465508 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Hyperbilirubinemia, Acholic stools, C... |
OMIM:615710 |
Wilson Disease |
|
Anemia, Cirrhosis, Hepatitis, Jaundice, Hepatic steatosis, Acute hepatitis, Hepatomegaly, Thrombo... |
ORPHA:905 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... |
OMIM:616217 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Anemia, Hepatic fibrosis, Dilated cardiomyopathy, Elevated circulating creatine ki... |
OMIM:615895 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Abno... |
ORPHA:96180 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:169090 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,... |
ORPHA:447 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Hepatic steatosis, Neonatal hyperbilirubinemia, Hepatomegaly |
ORPHA:348 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Abno... |
ORPHA:464329 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Hepatic fibrosis, Pericardial effusion, Steatorrhea, Hepatic steatosis, Pericardi... |
OMIM:212065 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Hypertrophic cardiomyopathy, Hepatomegaly, Hypocholesterolemia, Micropenis |
OMIM:618810 |
Ogden Syndrome |
|
Patent foramen ovale, Microvesicular hepatic steatosis, Ventricular septal defect, Perimembranous... |
OMIM:300855 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Neonatal hyperbilirubinemia, ... |
ORPHA:3008 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Ventricular septal defect, Pulmonary lymphangiectasia, Hepato... |
ORPHA:1655 |
Agammaglobulinemia, X-Linked |
|
Anemia, T lymphocytopenia, Prostatitis, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral ... |
OMIM:300755 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:59303 |
Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Chylopericardium, Hepatomegaly, Ascites, Pulmonic stenosis |
ORPHA:2414 |
Primary Lipodystrophy |
|
Splenomegaly, Cirrhosis, Hepatic steatosis, Polycystic ovaries, Hyperlipidemia, Pancreatitis, Car... |
ORPHA:90970 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Increased mean platelet volume |
OMIM:153670 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Atrioventricular canal defect, Biliary cirrhosis, Unbalanced atrioventricular canal defect, Secun... |
OMIM:619534 |
Majeed Syndrome |
|
Increased bone mineral density, Hypochromic microcytic anemia, Leukocytosis, Hepatomegaly, Spleno... |
ORPHA:77297 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatic steatosis, Hypertrophic cardiomyopathy, Polycystic ovaries, Hepatomegaly, H... |
ORPHA:2348 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentra... |
OMIM:617388 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia, Patent foramen ovale, Atrial septal defect |
OMIM:610883 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Sézary Syndrome |
|
Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology, Hepatomegaly |
ORPHA:3162 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Anemia, Pericardial effusion, Increased bone mineral density, Abnorma... |
ORPHA:77261 |
Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Hyperuricemia, Pancreatitis, Hepatic steatosis, Hypertrophic cardiomyopathy, Polycysti... |
ORPHA:79083 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Hepatomegaly, C... |
OMIM:308230 |
Leydig Cell Hypoplasia |
|
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... |
ORPHA:755 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
X-Linked Intellectual Disability, Nascimento Type |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Mitral stenosis, ... |
ORPHA:163956 |
Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Jaundice, Giant neutrophil granules, Lymphadenopathy, Hemophagocytosis, Hepat... |
OMIM:214500 |
Distal Xq28 Microduplication Syndrome |
|
Patent foramen ovale, Neonatal hyperbilirubinemia |
ORPHA:293939 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Truncus arteriosus, Ventricular septal defect, Portal hypertension, Splenomegaly |
OMIM:616589 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count |
OMIM:618394 |
Multiple Myeloma |
|
Anemia, Lymphadenopathy, Hypercalcemia, Osteopenia, Elevated circulating creatinine concentration... |
ORPHA:29073 |
Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Abnormal trabecular bone morphology, Hepatomegaly, Hypocalcemic seizures, Osteopetrosis, ... |
OMIM:612301 |
Mixed Connective Tissue Disease |
|
Leukopenia, Hemolytic anemia, Pericarditis, Osteolysis, Lymphadenopathy, Hepatomegaly, Mediastina... |
ORPHA:809 |
Prolidase Deficiency |
|
Anemia, Prolonged neonatal jaundice, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:170100 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Hyperparathyroidism, Neonatal Severe |
|
Anemia, Calcinosis, Hypophosphatemia, Hypercalcemia, Hepatomegaly, Splenomegaly |
OMIM:239200 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... |
OMIM:616005 |
Infantile Liver Failure Syndrome 3 |
|
Jaundice, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammonemia, Cholestasis, Hepatomegaly... |
OMIM:618641 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypogonadism, Mitral valve prolapse, Hypoplasia of penis, Azoospermia, Atrial s... |
ORPHA:251066 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Jaundice |
ORPHA:90033 |
Lead Poisoning |
|
Abnormal T cell morphology, Anemia, Oligospermia, Imbalanced hemoglobin synthesis, Increased LDL ... |
ORPHA:330015 |
Legionnaires Disease |
|
Endocarditis, Splenomegaly, Hepatitis, Jaundice, Lymphopenia, Pericarditis, Lymphadenopathy, Bone... |
ORPHA:549 |
Alg12-Cdg |
|
Patent foramen ovale, Abnormal bone ossification, B lymphocytopenia, Hypocholesterolemia, Hypospa... |
ORPHA:79324 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... |
OMIM:231005 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobu... |
ORPHA:90674 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis, Splenomegaly, Hepatomegaly |
OMIM:618541 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Cirrhosis, Labial hypertrophy, Ventricular septal hypertrophy, Hepatic steatosis, Hypertrophic ca... |
OMIM:269700 |
Immunodeficiency 47 |
|
Leukopenia, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, Exocrine pancreatic insuffi... |
OMIM:300972 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Reduced bone mineral density, Midshaft hypospadias, Sex reversal, Decre... |
ORPHA:168558 |
Mirizzi Syndrome |
|
Cholesterol gallstones, Hyperbilirubinemia, Jaundice, Cholelithiasis, Abnormality of the ductus c... |
ORPHA:521219 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Increased total iron binding capacity, Hyperglycinemia, Abnormality of the liver, J... |
ORPHA:309854 |
Cardiac-Urogenital Syndrome |
|
Ambiguous genitalia, Cor triatrium sinister, Pericardial effusion, Unilateral cryptorchidism, Biv... |
OMIM:618280 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cirrhosis, Granulomatous cholangitis, Hyperbilirubinemia, Interface hepatitis, Sclerosing cholang... |
ORPHA:562639 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Reduced bone mineral density, Midshaft hypospadias, Sex reversal, Decre... |
ORPHA:289548 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Sideroblastic anemia, Hypochromic microcytic anemia, Schistocytosis, Splenomeg... |
OMIM:616084 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Pulmonic stenosis, Secundum atrial septal defect, C... |
OMIM:612541 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Hypoplasia of the ut... |
ORPHA:168563 |
Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic stools, Portal fibrosis, ... |
OMIM:617394 |
Triosephosphate Isomerase Deficiency |
|
Hemolytic anemia, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholecystitis, Macrocyti... |
OMIM:615512 |
Tyrosinemia, Type I |
|
Hypermethioninemia, Anemia, Cirrhosis, Enlarged kidney, Hepatocellular carcinoma, Elevated circul... |
OMIM:276700 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperuricemia, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Pancreatic ... |
OMIM:232220 |