juvenile hemochromatosis

(redirected from hemochromatosis type 2)

juvenile hemochromatosis

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.

haemochromatosis type 2

An 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.

juvenile hemochromatosis

,

JH

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.
References in periodicals archive ?
10] Human genes: HFE, hemochromatosis; HFE2/HJV, hemochromatosis type 2 (juvenile); HAMP, hepcidin antimicrobial peptide; TFR2, transferrin receptor 2; FTL, ferritin, light polypeptide; SLC40A1, ferroportin.
Hemochromatosis Type 2 (also known as juvenile hemochromatosis) is an autosomal recessive disorder existing in two forms.
5] Human genes: HFE, hemochromatosis; HJV (alias, HFE2), hemochromatosis type 2 (juvenile); HAMP, hepcidin antimicrobial peptide (alias, LEAP-1); SMAD4, mothers against DPP homolog 4 (Drosophila); TfR2, transferrin receptor 2 (alias, HFE3); SLC40AI, solute carrier family 40 (iron-regulated transporter), member 1 (aliases, IREG1, FPN1, HFE4); FTL, L-ferritin; and SLCIIA2, solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 (aliases, DMT1, DCT1, and NRAMP2).