| Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
| Hemochromatosis, Type 5 |
|
Elevated transferrin saturation, Abnormal circulating copper concentration, Increased serum iron,... |
OMIM:615517 |
| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... |
OMIM:620121 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal transferrin saturation, Elevated hepatic i... |
ORPHA:254704 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:205950 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Increased serum iron, Increased serum pyruvate |
OMIM:603358 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:79230 |
| Hemochromatosis, Neonatal |
|
Abnormality of iron homeostasis, Increased serum iron, Increased circulating ferritin concentration |
OMIM:231100 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Elevated hepatic iron concentration, Increased serum iron |
OMIM:206100 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis |
ORPHA:75563 |
| Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Increased circulating copper concentration |
ORPHA:209919 |
| Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron |
OMIM:613313 |
| Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
| Mednik Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
ORPHA:171851 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:766 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron |
OMIM:604250 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... |
ORPHA:53693 |
| Aceruloplasminemia |
|
Increased circulating ferritin concentration, Decreased serum iron, Aceruloplasminemia |
OMIM:604290 |
| Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Increased serum iron |
OMIM:602390 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Elevated hepatic iron concentration, Elevated transferrin saturation, Increased circulating ferri... |
OMIM:615234 |
| Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:606069 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration |
OMIM:616278 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased serum iron |
OMIM:212050 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:617395 |
| Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:614482 |
| Cog2-Cdg |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
ORPHA:435934 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:848 |
| Irida Syndrome |
|
Decreased circulating copper concentration |
ORPHA:209981 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic iron concentration, Increased serum iron, Decreased transferrin saturation, Incr... |
ORPHA:300298 |
| Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc |
OMIM:601979 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum iron |
ORPHA:98870 |
| Hypermanganesemia With Dystonia 1 |
|
Unconjugated hyperbilirubinemia, Increased total iron binding capacity, Hypermanganesemia |
OMIM:613280 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:465508 |
| Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration |
OMIM:121270 |
| Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration |
ORPHA:521411 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Decreased serum iron |
ORPHA:391372 |
| Aceruloplasminemia |
|
Decreased circulating copper concentration, Increased circulating ferritin concentration, Elevate... |
ORPHA:48818 |
| Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Increased serum iron |
OMIM:235200 |
| Familial Benign Copper Deficiency |
|
Decreased circulating copper concentration |
ORPHA:1551 |
| Dietary Iron Overload Disease |
|
Elevated hepatic iron concentration, Elevated transferrin saturation, Increased circulating ferri... |
ORPHA:139507 |
| Beta-Thalassemia Intermedia |
|
Elevated hepatic iron concentration, Abnormality of iron homeostasis |
ORPHA:231222 |
| Trichohepatoenteric Syndrome 2 |
|
Decreased serum iron |
OMIM:614602 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:242150 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal transferrin saturation, Abnormal blood inorganic cation concentration, Increased total i... |
ORPHA:309854 |
| Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Decreased circulating hepcidin concentration, Incre... |
ORPHA:101330 |
| Trichohepatoenteric Syndrome 1 |
|
Abnormality of iron homeostasis, Increased serum iron, Hypermethioninemia, Hypoalbuminemia |
OMIM:222470 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:231226 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum zinc, Abnormal circulating selenium concentration, Decreased plasma carnitine, De... |
ORPHA:89842 |
| Beta-Thalassemia Major |
|
Abnormality of iron homeostasis |
ORPHA:231214 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased serum iron |
OMIM:616959 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia, Hypoalbuminemia |
OMIM:617093 |
| Syndromic Diarrhea |
|
Abnormality of iron homeostasis |
ORPHA:84064 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased serum zinc |
OMIM:201100 |
| Slc39A8-Cdg |
|
Abnormal blood zinc concentration, Hypomanganesemia |
ORPHA:468699 |
| Lysinuric Protein Intolerance |
|
Increased LDL cholesterol concentration, Hyperammonemia, Hyperglutaminemia, Hyperalaninemia, Elev... |
ORPHA:470 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
High nonceruloplasmin-bound serum copper |
ORPHA:457351 |
| Wilson Disease |
|
Hypouricemia, Increased circulating copper concentration, Hyperbilirubinemia, Decreased circulati... |
OMIM:277900 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Decreased serum zinc |
ORPHA:541423 |
| Alpha-Fetoprotein Deficiency |
|
Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... |
ORPHA:447 |
| Immunodeficiency 47 |
|
Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
| Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:304150 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased serum iron |
ORPHA:438213 |
| Acute Transverse Myelitis |
|
Decreased circulating copper concentration |
ORPHA:139417 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Decreased serum zinc, Decreased plasma total carnitine, Abnormal circulating selenium concentration |
ORPHA:79408 |
| Wrinkly Skin Syndrome |
|
High nonceruloplasmin-bound serum copper |
ORPHA:2834 |
