Hemochromatosis, Type 5 |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Episodic Muscle Weakness, X-Linked |
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Muscle weakness |
OMIM:300211 |
Myopathy, Vacuolar, With Casq1 Aggregates |
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Elevated circulating creatine kinase concentration, Muscle weakness, Proximal muscle weakness |
OMIM:616231 |
Idiopathic Copper-Associated Cirrhosis |
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Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
Macrophagic Myofasciitis |
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Fatigue, Generalized muscle weakness, Arthralgia, Myalgia |
ORPHA:592 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
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Facial diplegia, Abnormal circulating creatine kinase concentration, Steppage gait, Abnormal circ... |
ORPHA:521411 |
Myopathy, Tubular Aggregate, 2 |
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Elevated circulating creatine kinase concentration, Proximal muscle weakness, Generalized muscle ... |
OMIM:615883 |
Genetic Hyperferritinemia Without Iron Overload |
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Fatigue, Increased circulating ferritin concentration, Abnormal serum iron concentration, Arthral... |
ORPHA:254704 |
X-Linked Sideroblastic Anemia |
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Elevated hepatic transaminase, Fatigue, Splenomegaly, Abnormality of iron homeostasis, Muscle wea... |
ORPHA:75563 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
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Fatigue, Shoulder girdle muscle weakness, Neck muscle weakness, Proximal muscle weakness |
OMIM:619477 |
Mednik Syndrome |
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Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:171851 |
Huppke-Brendel Syndrome |
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Inability to walk, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... |
OMIM:614482 |
Iron Overload, Susceptibility To |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... |
OMIM:620121 |
Congenital Disorder Of Glycosylation, Type Iiq |
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Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:617395 |
Irida Syndrome |
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Intrahepatic cholestasis, Decreased circulating copper concentration |
ORPHA:209981 |
Cog2-Cdg |
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Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... |
ORPHA:435934 |
Mitochondrial Myopathy With Lactic Acidosis |
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Increased serum pyruvate, Fatigue, Proximal muscle weakness, Gowers sign, Dysmetria, Tip-toe gait |
OMIM:251950 |
Hjv Or Hamp-Related Hemochromatosis |
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Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Incr... |
ORPHA:79230 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
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Waddling gait, Fatigue, Elevated circulating creatine kinase concentration, Gowers sign, Upper li... |
ORPHA:209335 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
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Loss of ambulation, Fatigue, Elevated circulating creatine kinase concentration, Proximal muscle ... |
OMIM:253601 |
Becker Muscular Dystrophy |
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Elevated hepatic transaminase, Exercise intolerance, Fatigue, Elevated circulating creatine kinas... |
ORPHA:98895 |
Aceruloplasminemia |
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Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, At... |
ORPHA:48818 |
Hemochromatosis, Neonatal |
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Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... |
OMIM:231100 |
Familial Benign Copper Deficiency |
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Decreased circulating copper concentration |
ORPHA:1551 |
Copper Deficiency, Familial Benign |
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Decreased circulating copper concentration |
OMIM:121270 |
Gracile Syndrome |
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Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho... |
OMIM:603358 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:242150 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:205950 |
Hemochromatosis, Type 2B |
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Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
Neonatal Hemochromatosis |
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Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ... |
ORPHA:446 |
Liddle Syndrome |
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Fatigue, Hypokalemia, Muscle weakness |
ORPHA:526 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
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Increased serum pyruvate, Progressive external ophthalmoplegia, Fatigue, Exercise intolerance, At... |
ORPHA:1349 |
Hypomagnesemia 6, Renal |
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Muscle weakness, Hypomagnesemia |
OMIM:613882 |
Hemochromatosis, Type 4 |
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Fatigue, Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturat... |
OMIM:606069 |
Hemochromatosis, Type 3 |
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Elevated hepatic transaminase, Fatigue, Increased circulating ferritin concentration, Elevated tr... |
OMIM:604250 |
Wilson Disease |
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Acute hepatic failure, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypourice... |
OMIM:277900 |
Pediatric Hepatocellular Carcinoma |
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Fatigue, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Port... |
ORPHA:33402 |
Immunodeficiency 47 |
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Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... |
OMIM:300972 |
Acute Transverse Myelitis |
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Back pain, Fatigue, Decreased circulating copper concentration, Urinary incontinence, Upper limb ... |
ORPHA:139417 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration |
OMIM:620306 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
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Fatigue, Gowers sign, Elevated circulating creatine kinase concentration, Proximal muscle weakness |
OMIM:613157 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Inability to walk, High nonceruloplasmin-bound serum copper |
ORPHA:457351 |
Beta-Thalassemia |
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Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis, Muscle we... |
ORPHA:848 |
Gracile Syndrome |
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Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
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Fatigue, Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Abnorm... |
OMIM:241150 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Fatigue, Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Abdomin... |
ORPHA:465508 |
Glycogen Storage Disease Ixa1 |
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Elevated hepatic transaminase, Hepatomegaly, Fatigue, Hypertriglyceridemia, Splenomegaly, Hyperur... |
OMIM:306000 |
Dubin-Johnson Syndrome |
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Fatigue, Hepatomegaly, Abdominal pain, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abn... |
ORPHA:234 |
Hypermanganesemia With Dystonia 1 |
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Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Steppage gait, Increased total ir... |
OMIM:613280 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
Autosomal Dominant Hypophosphatemic Rickets |
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Fatigue, Bone pain, Hypocalcemia, Hypophosphatemia, Muscle weakness |
ORPHA:89937 |
Dietary Iron Overload Disease |
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Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Zinc Deficiency, Transient Neonatal |
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Decreased serum zinc |
OMIM:608118 |
Hemochromatosis, Type 2A |
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Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... |
OMIM:602390 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr... |
ORPHA:766 |
Drug-Induced Autoimmune Hemolytic Anemia |
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Fatigue, Splenomegaly, Muscle weakness, Increased total bilirubin |
ORPHA:90037 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Elevated hepatic transaminase, Fatigue, Increased circulating ferritin concentration, Hepatosplen... |
ORPHA:300298 |
Aceruloplasminemia |
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Increased circulating ferritin concentration, Ataxia, Aceruloplasminemia, Decreased serum iron |
OMIM:604290 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Congenital Dyserythropoietic Anemia Type Iii |
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Elevated hepatic transaminase, Fatigue, Increased serum iron, Increased total iron binding capaci... |
ORPHA:98870 |
Congenital Isolated Acth Deficiency |
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Hyponatremia, Fatigue, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice |
ORPHA:199296 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... |
OMIM:615234 |
Hyperzincemia With Functional Zinc Depletion |
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Hepatomegaly, Increased serum zinc |
OMIM:601979 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Fatigue, Hypercalcemia, Hypermagnesemia, Bone pain, Hypophosphatemia, Pancreatitis, Muscle weakness |
OMIM:600740 |
Beta-Thalassemia Intermedia |
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Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality o... |
ORPHA:231222 |
Hemochromatosis, Type 1 |
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Elevated hepatic transaminase, Hepatomegaly, Abdominal pain, Increased circulating ferritin conce... |
OMIM:235200 |
Porphyria Cutanea Tarda |
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Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep... |
ORPHA:101330 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
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Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... |
OMIM:617093 |
Occipital Horn Syndrome |
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Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:304150 |
Slc39A8-Cdg |
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Poor head control, Abnormal blood zinc concentration, Inability to walk, Abnormality of the liver... |
ORPHA:468699 |
Dominant Beta-Thalassemia |
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Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Chronic hepatitis, Hepatosplenom... |
ORPHA:231226 |
Oxoglutaric Aciduria |
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Abnormality of Krebs cycle metabolism, Ataxia |
ORPHA:31 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Splenomegaly, Hepatomegaly, Decreased serum zinc, Ataxia |
OMIM:201100 |
Wrinkly Skin Syndrome |
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Progressive cerebellar ataxia, High nonceruloplasmin-bound serum copper |
ORPHA:2834 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
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Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib... |
ORPHA:541423 |
Trichohepatoenteric Syndrome 1 |
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Hepatomegaly, Abnormality of the pancreas, Splenomegaly, Jaundice, Cholestasis, Increased serum i... |
OMIM:222470 |
Beta-Thalassemia Major |
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Hepatomegaly, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Hepatosplenomegaly... |
ORPHA:231214 |
Lysinuric Protein Intolerance |
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Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperalanin... |
ORPHA:470 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... |
ORPHA:89842 |
Syndromic Diarrhea |
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Hepatomegaly, Splenomegaly, Abnormality of the liver, Hepatic fibrosis, Abnormality of iron homeo... |
ORPHA:84064 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Decreased plasma total carnitine, Decreased serum zinc, Chronic pain, Abnormal circulating seleni... |
ORPHA:79408 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
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Increased serum pyruvate, Hepatomegaly |
OMIM:604377 |
Myopia 6 |
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OMIM:608908 |