juvenile hemochromatosis


Also found in: Acronyms.

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 ?
Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.
The sequencing of the genes encoding hemojuvelin and hepcidin will serve as confirmatory tests in the diagnosis of cases of suspected juvenile hemochromatosis.
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.
The most common gene causing juvenile hemochromatosis was recently identified, mapping to the pericentromeric region of the long arm of chromosome 1 (Table 2) (16).
The first gene identified in juvenile hemochromatosis was hepcidin antimicrobial peptide (HAMP), which encodes hepcidin.
Mutations in HFE2 cause iron overload in chromosome 1g-linked juvenile hemochromatosis.

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