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Aceruloplasminemia

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Aceruloplasminemia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • familial apoceruloplasmin deficiency
  • hereditary ceruloplasmin deficiency

Disorder Subdivisions

  • None

General Discussion

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.

Resources

Iron Overload Diseases Association, Inc.

525 Mayflower Road

West Palm Beach, Fl 33405

Tel: (561)586-8246

Fax: (561)842-9881

Tel: (866)768-8629

Email: iod@ironoverload.org

Internet: http://ironoverload.org



NBIA Disorders Association

2082 Monaco Court

El Cajon, CA 92019-4235

Tel: (619)588-2315

Fax: (619)588-4093

Email: info@nbiadisorders.org

Internet: http://www.nbiadisorders.org



Iron Disorders Institute

PO Box 675

Taylors, SC 29687

USA

Tel: (864)292-1175

Fax: (864)292-1878

Tel: (888)565-4766

Email: info@irondisorders.org

Internet: http://www.irondisorders.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

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 orphan@rarediseases.org

Last Updated:  3/12/2013

Copyright  2010, 2013 National Organization for Rare Disorders, Inc.

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