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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Aceruloplasminemia


Other Names for this Disease

  • Ceruloplasmin deficiency
  • Familial apoceruloplasmin deficiency
  • Hereditary ceruloplasmin deficiency
  • Hypoceruloplasminemia
  • Systemic hemosiderosis due to aceruloplasminemia
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Overview

Aceruloplasminemia is a disorder of iron metabolism.[1] This disorder causes iron to build-up in the body. Signs and symptoms begin in adulthood. People with this disorder tend to develop anemia and diabetes in their 20's.[2] As the condition progresses, movement problems are common, such as tremors, choreaataxia, eyelid twitching, and grimacing.[2] Some experience psychiatric problems and dementia in their 40's and 50's.[2] Eye examination may reveal changes in the retina, but these changes typically do not affect vision.[2] Aceruloplasminemia is caused by mutations in the CP gene and are inherited in an autosomal recessive fashion.[2]
Last updated: 8/3/2011

References

  1. Miyajima H. Aceruloplasminemia. GeneReview. 2003; http://www.ncbi.nlm.nih.gov/books/NBK1493. Accessed 8/3/2011.
  2. Aceruloplasminemia. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=aceruloplasminemia. Accessed 8/3/2011.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Aceruloplasminemia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Ceruloplasmin deficiency
  • Familial apoceruloplasmin deficiency
  • Hereditary ceruloplasmin deficiency
  • Hypoceruloplasminemia
  • Systemic hemosiderosis due to aceruloplasminemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.