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National Organization for Rare Disorders, Inc.
- familial apoceruloplasmin deficiency
- hereditary ceruloplasmin deficiency
Aceruloplasminemia is a rare genetic disorder characterized by the abnormal accumulation of iron in the brain and various internal organs. Affected individuals develop neurological symptoms including cognitive impairment and movement disorders. Degeneration of the retina and diabetes may also occur. Symptoms usually become apparent during adulthood between 20 and 60 years of age. Aceruloplasminemia is caused by mutations of the ceruloplasmin (CP) gene. This mutation is inherited as an autosomal recessive trait.
Aceruloplasminemia is classified as a Neurodegenerative disorder with Brain Iron Accumulation (NBIA). NBIA are a group of rare inherited disorders characterized by iron accumulation in the brain. Aceruloplasminemia is also classified as an iron overload disorder.
Iron Overload Diseases Association, Inc.
525 Mayflower Road
West Palm Beach, Fl 33405
NBIA Disorders Association
2082 Monaco Court
El Cajon, CA 92019-4235
Iron Disorders Institute
PO Box 675
Taylors, SC 29687
For a Complete Report
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This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 2/22/2010
Copyright 2010 National Organization for Rare Disorders, Inc.