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Summary
HEMOCHROMATOSIS, TYPE 1
HFE1
235200
OMIM = Online Medalian Inheritance of Men
465508
6p22.2, 20p12.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
rare
autoasomal recessive
symptoms
alopecia
ascites
cardiac arrhythmia, dysrhythmia
cardiomegaly
cardiomyopathy
cirrhosis or fibrosis of liver
diabetes mellitus
hepatomegaly (large liver)
hyperpigmentation
hypogonadism
osteoporosis
pain, abdominal
pleural effusions
splenomegaly (large spleen)
laboratory finding
Iron increasedurineadult
Transaminases increasedserum
Ferritin increasedseruminfancy
Glucose tolerance, impaired
Literature
Kymionis GD,et al.Isolated corneal pseudodendrites as the initial manifestation of tyrosinemia type II in monozygotic twinsJ Pediatr Ophthalmol Strabismus490e33-362012
Hegarty R,et al.Inherited metabolic disorders presenting as acute liver failure in newborns and young children: Kings College Hospital experienceEur J Pediatr174101387-13922015