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Summary
HEMOCHROMATOSIS, TYPE 2B
613313
OMIM = Online Medalian Inheritance of Men
79230
19q13.12
rare
autosomal recessive
mutation in the HAMP gene
symptoms
anemia
cardiomyopathy
cirrhosis or fibrosis of liver
heart failure
hepatomegaly (large liver)
hyperpigmentation
hypogonadism
onset, adolescent
splenomegaly (large spleen)
laboratory finding
Ferritin increasedserum
Iron increasedserum
Transaminases increasedserum
Literature
Kymionis GD,et al.Isolated corneal pseudodendrites as the initial manifestation of tyrosinemia type II in monozygotic twinsJ Pediatr Ophthalmol Strabismus490e33-362012
Iskeleli G,et al.Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesionTurk J Pediatr536692-6942011