Hemochromatosis, Type 4 (HFE4)

Alias:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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

Related ID：

MALACARDS：HMC035

OMIM：606069

MESH：C537249