Iron Overload, Susceptibility To |
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Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
Hemochromatosis, Type 5 |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Genetic Hyperferritinemia Without Iron Overload |
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Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Gracile Syndrome |
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Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... |
OMIM:616860 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... |
OMIM:615234 |
Gracile Syndrome |
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Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho... |
OMIM:603358 |
Hemochromatosis, Neonatal |
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Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... |
OMIM:231100 |
Idiopathic Copper-Associated Cirrhosis |
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Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
X-Linked Sideroblastic Anemia |
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Abnormality of iron homeostasis, Splenomegaly, Anemia, Elevated hepatic transaminase |
ORPHA:75563 |
Hemochromatosis, Type 2B |
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Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Incre... |
OMIM:613313 |
Neonatal Hemochromatosis |
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Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ... |
ORPHA:446 |
Dietary Iron Overload Disease |
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Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Hjv Or Hamp-Related Hemochromatosis |
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Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Incr... |
ORPHA:79230 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,... |
ORPHA:300298 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... |
OMIM:212050 |
Beta-Thalassemia Intermedia |
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Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Hemochromatosis, Type 3 |
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Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
Zinc Deficiency, Transient Neonatal |
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Decreased serum zinc |
OMIM:608118 |
Porphyria Cutanea Tarda |
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Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep... |
ORPHA:101330 |
Beta-Thalassemia |
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Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Mednik Syndrome |
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Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:171851 |
Hemochromatosis, Type 4 |
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Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr... |
OMIM:606069 |
Hemochromatosis, Type 2A |
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Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... |
OMIM:602390 |
Aceruloplasminemia |
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Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... |
ORPHA:48818 |
Combined Oxidative Phosphorylation Deficiency 14 |
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Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... |
OMIM:614946 |
Irida Syndrome |
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Intrahepatic cholestasis, Decreased circulating copper concentration |
ORPHA:209981 |
Hypermanganesemia With Dystonia 1 |
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Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
Hyperzincemia With Functional Zinc Depletion |
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Hepatomegaly, Increased serum zinc |
OMIM:601979 |
Congenital Dyserythropoietic Anemia Type Iii |
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Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased serum iro... |
ORPHA:98870 |
Aceruloplasminemia |
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Anemia, Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron |
OMIM:604290 |
Copper Deficiency, Familial Benign |
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Decreased circulating copper concentration, Anemia |
OMIM:121270 |
Congenital Disorder Of Glycosylation, Type Iiq |
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Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:617395 |
Cog2-Cdg |
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Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... |
ORPHA:435934 |
Huppke-Brendel Syndrome |
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Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:614482 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Splenomegaly, In... |
ORPHA:465508 |
Familial Benign Copper Deficiency |
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Decreased circulating copper concentration, Anemia |
ORPHA:1551 |
Hypoparathyroidism, Familial Isolated, 2 |
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Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Hemochromatosis, Type 1 |
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Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:235200 |
Trichohepatoenteric Syndrome 2 |
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Hepatomegaly, Cirrhosis, Decreased serum iron, Chronic hepatitis |
OMIM:614602 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Dominant Beta-Thalassemia |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Beta-Thalassemia Major |
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Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Liver Disease, Severe Congenital |
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Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentration... |
OMIM:619991 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
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Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration |
ORPHA:521411 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Decreased serum iron, Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Trichohepatoenteric Syndrome 1 |
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Hepatomegaly, Increased mean platelet volume, Abnormality of the pancreas, Splenomegaly, Jaundice... |
OMIM:222470 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
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Decreased serum iron |
ORPHA:391372 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Hepatomegaly, Microvesicular hepatic steatosis, Cirrhosis, Elevated hepatic iron concentration |
OMIM:300868 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:242150 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
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Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... |
OMIM:617093 |
Syndromic Diarrhea |
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Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ... |
ORPHA:84064 |
Immunodeficiency 47 |
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Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circu... |
OMIM:300972 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
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Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib... |
ORPHA:541423 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Abnormal circulating selenium concentration, Decreased serum iron, Decreased serum zinc, Hypoalbu... |
ORPHA:89842 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Splenomegaly, Hepatomegaly, Decreased serum zinc |
OMIM:201100 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration |
OMIM:620306 |
Wilson Disease |
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Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... |
OMIM:277900 |
Lysinuric Protein Intolerance |
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Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulating serine co... |
ORPHA:470 |
Slc39A8-Cdg |
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Hypomanganesemia, Abnormality of the liver, Abnormal blood zinc concentration |
ORPHA:468699 |
Paroxysmal Nocturnal Hemoglobinuria |
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Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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High nonceruloplasmin-bound serum copper, Thrombocytopenia |
ORPHA:457351 |
Occipital Horn Syndrome |
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Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:304150 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Decreased serum iron, Anemia |
ORPHA:438213 |
Acute Transverse Myelitis |
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Decreased circulating copper concentration |
ORPHA:139417 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Abnormal circulating selenium concentration, Iron deficiency anemia, Decreased serum zinc, Decrea... |
ORPHA:79408 |
Wrinkly Skin Syndrome |
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High nonceruloplasmin-bound serum copper |
ORPHA:2834 |