Definition: an autosomal recessive disorder [MIM*602390] with one form mapped to 1q and another resulting from a mutation in the gene HAMP that encodes hepcidin, an antimicrobial peptide, on chromosome 19q13.
Synonym(s): hemochromatosis type 2
© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.