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Xu, C. Hyperferritinemia-Cataract Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4129 (accessed on 28 September 2026).
Xu C. Hyperferritinemia-Cataract Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4129. Accessed September 28, 2026.
Xu, Camila. "Hyperferritinemia-Cataract Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4129 (accessed September 28, 2026).
Xu, C. (2020, December 23). Hyperferritinemia-Cataract Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4129
Xu, Camila. "Hyperferritinemia-Cataract Syndrome." Encyclopedia. Web. 23 December, 2020.
Hyperferritinemia-Cataract Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hyperferritinemia-cataract-syndrome

Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body.

genetic conditions

References

  1. Aguilar-Martinez P, Schved JF, Brissot P. The evaluation of hyperferritinemia:an updated strategy based on advances in detecting genetic abnormalities. Am JGastroenterol. 2005 May;100(5):1185-94. Review.
  2. Brooks DG, Manova-Todorova K, Farmer J, Lobmayr L, Wilson RB, Eagle RC Jr, St Pierre TG, Stambolian D. Ferritin crystal cataracts in hereditaryhyperferritinemia cataract syndrome. Invest Ophthalmol Vis Sci. 2002Apr;43(4):1121-6.
  3. Cazzola M. Hereditary hyperferritinaemia/ cataract syndrome. Best Pract ResClin Haematol. 2002 Jun;15(2):385-98. Review.
  4. Cazzola M. Role of ferritin and ferroportin genes in unexplainedhyperferritinaemia. Best Pract Res Clin Haematol. 2005 Jun;18(2):251-63. Review.
  5. Christiansen G, Mohney BG. Hereditary hyperferritinemia-cataract syndrome. JAAPOS. 2007 Jun;11(3):294-6.
  6. Ferrante M, Geubel AP, Fevery J, Marogy G, Horsmans Y, Nevens F. Hereditaryhyperferritinaemia-cataract syndrome: a challenging diagnosis for thehepatogastroenterologist. Eur J Gastroenterol Hepatol. 2005 Nov;17(11):1247-53.Review.
  7. Ismail AR, Lachlan KL, Mumford AD, Temple IK, Hodgkins PR. Hereditaryhyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings.Eur J Ophthalmol. 2006 Jan-Feb;16(1):153-60.
  8. Kato J, Niitsu Y. Recent advance in molecular iron metabolism: translationaldisorders of ferritin. Int J Hematol. 2002 Oct;76(3):208-12. Review.
  9. Millonig G, Muckenthaler MU, Mueller S. Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder. Hum Genomics. 2010 Apr;4(4):250-62. Review.
  10. Roetto A, Bosio S, Gramaglia E, Barilaro MR, Zecchina G, Camaschella C.Pathogenesis of hyperferritinemia cataract syndrome. Blood Cells Mol Dis. 2002Nov-Dec;29(3):532-5.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 745
Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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