Also found in: Acronyms.
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
haemochromatosis type 2An uncommon condition of juvenile onset, described in several Italian families, which clinically mimics classic haemochromatosis, but at an accelerated pace; patients more commonly present with cardiomyopathy or endocrinopathy than with severe liver disease, and often die by age 30 of heart failure.
An autosomal recessive disorder of iron metabolism in which excessive iron storage results in hypogonadism, cardiomyopathy, cirrhosis, and joint disease in individuals before the age of 30. Patients with juvenile hemochromatosis do not have mutations in the HFE protein, the protein responsible for hemochromatosis in adults. The mutation in juvenile hemochromatosis is found on chromosome 1.