Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Hyperferritinemia Cataract Syndrome


Synonyms of Hyperferritinemia Cataract Syndrome
  • hereditary hyperferritinemia cataract syndrome
  • HHCS

Disorder Subdivisions



    General Discussion
    Hyperferritinemia-cataract syndrome is an extremely rare genetic disorder characterized by the early onset of cataracts associated with persistently elevated levels of ferritin in the blood plasma. Ferritin is a protein that binds to iron and is used as an indicator of the body?s iron stores. Cataracts are the only known complication associated with this disorder. Hyperferritinemia-cataract syndrome is caused by mutations to ferritin light chain (FTL) gene. This mutation is inherited as an autosomal dominant trait.

    Organizations related to Hyperferritinemia Cataract Syndrome
    • Iron Disorders Institute
      2722 Wade Hampton Blvd.
      Greenville SC 29615
      Phone #: 864-292-1175
      800 #: 888-565-4766
      e-mail: comments@irondisorders.org
      Home page: http://www.irondisorders.org
    • NIH/National Eye Institute
      Building 31 Rm 6A32
      Bethesda MD 20892-2510
      Phone #: 301-496-5248
      800 #: --
      e-mail: 2020@nei.nih.gov
      Home page: http://www.nei.nih.gov/



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html