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Summary
HEMOCHROMATOSIS, TYPE 2
HFE2
602390
OMIM = Online Medalian Inheritance of Men
79230
1q21.1
rare (<100 cases)
autosomal recessive
symptoms
arthritis
cardiac arrhythmia, dysrhythmia
cardiomegaly
cardiomyopathy, dilated
hepatomegaly (large liver)
hyperpigmentation
hypogonadism
lethargy, drowsiness, malaise or sleep disorder
muscle weakness
onset, adult
splenomegaly (large spleen)
laboratory finding
Ferritin increasedserum
Iron increasedserum
Literature