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Summary
HEMOCHROMATOSIS, TYPE 2A
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, adulthood
splenomegaly (large spleen)
laboratory finding
Ferritin increasedserum
Iron increasedserum
Literature
Kymionis GD,et al.Isolated corneal pseudodendrites as the initial manifestation of tyrosinemia type II in monozygotic twinsJ Pediatr Ophthalmol Strabismus00e33-362012
Nakamura K,et al.Diagnosis and treatment of hereditary tyrosinemia in JapanPediatr Int57137-402015