Hyperferritinemia Cataract Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Hyperferritinemia Cataract Syndrome is not the name you expected.
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.
Genetic and Rare Diseases (GARD) Information Center
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Iron Disorders Institute
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NIH/National Eye Institute
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- Website: http://www.nei.nih.gov/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 3/19/2012
Copyright 2012 National Organization for Rare Disorders, Inc.
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