Iron Overload, Susceptibility To |
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Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir... |
OMIM:620121 |
Hemochromatosis, Type 5 |
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Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... |
OMIM:615517 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... |
OMIM:206100 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... |
OMIM:205950 |
Gracile Syndrome |
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Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated... |
ORPHA:53693 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... |
OMIM:616860 |
Gracile Syndrome |
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Cholestasis, Increased circulating iron concentration, Increased serum pyruvate, Increased circul... |
OMIM:603358 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Anemia, Elevate... |
OMIM:615234 |
Hemochromatosis, Neonatal |
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Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro... |
OMIM:231100 |
Idiopathic Copper-Associated Cirrhosis |
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Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... |
ORPHA:209919 |
X-Linked Sideroblastic Anemia |
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Anemia, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration,... |
ORPHA:75563 |
Hemochromatosis, Type 2B |
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Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... |
OMIM:613313 |
Neonatal Hemochromatosis |
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Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi... |
ORPHA:446 |
Dietary Iron Overload Disease |
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Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
Hjv Or Hamp-Related Hemochromatosis |
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Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... |
ORPHA:79230 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
ORPHA:300298 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r... |
ORPHA:766 |
Hyperferritinemia With Or Without Cataract |
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Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... |
OMIM:600886 |
Beta-Thalassemia Intermedia |
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Abnormality of iron homeostasis, Cholelithiasis, Decreased liver function, Extramedullary hematop... |
ORPHA:231222 |
Hemochromatosis, Type 3 |
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Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
OMIM:604250 |
Zinc Deficiency, Transient Neonatal |
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Decreased serum zinc |
OMIM:608118 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... |
OMIM:212050 |
Porphyria Cutanea Tarda |
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Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... |
ORPHA:101330 |
Beta-Thalassemia |
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Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Anemia, Thromboc... |
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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Increased circulating ferritin concentration, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly,... |
OMIM:606069 |
Hemochromatosis, Type 2A |
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Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... |
OMIM:602390 |
Aceruloplasminemia |
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Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer... |
ORPHA:48818 |
Combined Oxidative Phosphorylation Deficiency 14 |
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Increased hepatic glycogen content, Copper accumulation in liver, Thrombocytopenia, Elevated hepa... |
OMIM:614946 |
Hypermanganesemia With Dystonia 1 |
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Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ... |
OMIM:613280 |
Irida Syndrome |
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Intrahepatic cholestasis, Decreased circulating copper concentration |
ORPHA:209981 |
Hyperzincemia With Functional Zinc Depletion |
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Hepatomegaly, Increased serum zinc |
OMIM:601979 |
Congenital Dyserythropoietic Anemia Type Iii |
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Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
ORPHA:98870 |
Aceruloplasminemia |
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Anemia, Decreased circulating iron concentration, Aceruloplasminemia, Increased circulating ferri... |
OMIM:604290 |
Congenital Disorder Of Glycosylation, Type Iiq |
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Decreased circulating ceruloplasmin concentration, Elevated circulating hepatic transaminase conc... |
OMIM:617395 |
Copper Deficiency, Familial Benign |
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Anemia, Decreased circulating copper concentration |
OMIM:121270 |
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 |
Hypoparathyroidism, Familial Isolated, 2 |
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Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
Familial Benign Copper Deficiency |
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Anemia, Decreased circulating copper concentration |
ORPHA:1551 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Increased circulating ferritin concentration, Portal hypertension, Splenomegaly, Chronic hepatic ... |
ORPHA:465508 |
Hemochromatosis, Type 1 |
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Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
OMIM:235200 |
Trichohepatoenteric Syndrome 2 |
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Hepatomegaly, Decreased circulating iron concentration, Cirrhosis, Chronic hepatitis |
OMIM:614602 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... |
ORPHA:309854 |
Dominant Beta-Thalassemia |
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Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi... |
ORPHA:231226 |
Beta-Thalassemia Major |
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Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi... |
ORPHA:231214 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
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Abnormal circulating copper concentration |
ORPHA:521411 |
Liver Disease, Severe Congenital |
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Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato... |
OMIM:619991 |
Trichohepatoenteric Syndrome 1 |
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Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased circulating iro... |
OMIM:222470 |
Foxp1 Syndrome |
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Decreased circulating iron concentration |
ORPHA:391372 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Hepatomegaly, Cirrhosis, Elevated hepatic iron concentration, Microvesicular hepatic steatosis |
OMIM:300868 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased serum bile ac... |
OMIM:242150 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... |
OMIM:616959 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
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Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Elevated c... |
OMIM:617093 |
Syndromic Diarrhea |
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Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplasia of the thymus, ... |
ORPHA:84064 |
Immunodeficiency 47 |
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Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... |
OMIM:300972 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
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Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:541423 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... |
ORPHA:89842 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Hepatomegaly, Splenomegaly, Decreased serum zinc |
OMIM:201100 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration |
OMIM:620306 |
Wilson Disease |
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Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... |
OMIM:277900 |
Lysinuric Protein Intolerance |
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Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, C... |
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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Decreased circulating iron concentration, Unconjugated hyperbilirubinemia, Pancytopenia, Leukopen... |
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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Anemia, Decreased circulating iron concentration |
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, Anemia... |
ORPHA:79408 |
Wrinkly Skin Syndrome |
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High nonceruloplasmin-bound serum copper |
ORPHA:2834 |