/hemochromatosis type 4

hemochromatosis type 4

Rare Disease

MONDO:0011631

Also Known As

Ferroportin DiseaseHFE4SLC40A1 hereditary hemochromatosisautosomal dominant hereditary hemochromatosisferroportin diseasehemochromatosis due to defect in ferroportinhereditary hemochromatosis caused by mutation in SLC40A1hemochromatosis, autosomal dominanthemochromatosis, type 4

Definition

A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC.