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Summary
HEMOCHROMATOSIS, TYPE 4
HEMOCHROMATOSIS DUE TO DEFECT IN FERROPORTIN
606069
OMIM = Online Medalian Inheritance of Men
139491
2q32.2
rare
autosomal dominant
symptoms
anemia
arthritis
cardiac arrhythmia, dysrhythmia
cardiomyopathy
cataract
cirrhosis or fibrosis of liver
fatigue, severe or unusual
fever
hyperpigmentation
liver involvement (acute, chronic, hepatitis)
pain, bones or joints
laboratory finding
Glucose tolerance, impaired
Ferritin increasedserum
Literature
Kymionis GD,et al.Isolated corneal pseudodendrites as the initial manifestation of tyrosinemia type II in monozygotic twinsJ Pediatr Ophthalmol Strabismus00e33-362012
de Laet C,et al.Recommendations for the management of tyrosinaemia type 1Orphanet J Rare Dis002013
Barnby ETyrosinemia type 1: an overview of nursing carePediatr Nurs40261-682014
Had+-Ñi-+º N,Vara RNeonatal screening for hereditary tyrosinaemia: are we there yet?Arch Dis Child1008720-7212015
Simite D,et al.Recessive mutations in PCBD1 cause a new type of early-onset diabetesDiabetes63103557-35642014