Hemochromatosis, Type 4 (HFE4)

Hemochromatosis, Type 4(来自ICD-11)
别称:
Hemochromatosis Type 4
Hemochromatosis Due to Defect in Ferroportin
Ferroportin Disease
Hfe4
Autosomal Dominant Hereditary Hemochromatosis
Hemochromatosis, Autosomal Dominant
Hemochromatosis Autosomal Dominant
Slc40a1-Related Hemochromatosis
Hemochromatosis 4
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Hemochromatosis, Type 4, also known as hemochromatosis type 4, is related to hjv or hamp-related hemochromatosis and hemochromatosis, type 5, and has symptoms including arthralgia and fatigue. An important gene associated with Hemochromatosis, Type 4 is SLC40A1 (Solute Carrier Family 40 Member 1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Insulin receptor recycling. The drugs Iron and Hepcidins have been mentioned in the context of this disorder. Affiliated tissues include liver and heart, and related phenotypes are increased circulating ferritin concentration and hepatic steatosis
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