Hemochromatosis, Type 5 (HFE5)

Alias:

Hemochromatosis Type 5

Fth1-Associated Iron Overload

Fth1-Related Iron Overload

Hfe5

Iron Overload, Autosomal Dominant

Autosomal Dominant Iron Overload

Hemochromatosis 5

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hemochromatosis, Type 5, also known as hemochromatosis type 5, is related to hemochromatosis, type 4 and iron metabolism disease. An important gene associated with Hemochromatosis, Type 5 is FTH1 (Ferritin Heavy Chain 1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Insulin receptor recycling. Affiliated tissues include liver and bone marrow, and related phenotypes are increased serum iron and elevated hepatic iron concentration

Related ID：

MALACARDS：HMC034

OMIM：615517

MESH：D006432