Other Names for this Disease
- Ceruloplasmin deficiency
- Familial apoceruloplasmin deficiency
- Hereditary ceruloplasmin deficiency
- Systemic hemosiderosis due to aceruloplasminemia
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 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. As the condition progresses, movement problems are common, such as tremors, chorea, ataxia, eyelid twitching, and grimacing. Some experience psychiatric problems and dementia in their 40's and 50's. Eye examination may reveal changes in the retina, but these changes typically do not affect vision. Aceruloplasminemia is caused by mutations in the CP gene and are inherited in an autosomal recessive fashion.Aceruloplasminemia is a disorder of iron metabolism.
Last updated: 8/3/2011
- Miyajima H. Aceruloplasminemia. GeneReview. 2003; http://www.ncbi.nlm.nih.gov/books/NBK1493. Accessed 8/3/2011.
- Aceruloplasminemia. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=aceruloplasminemia. Accessed 8/3/2011.
- Genetics Home Reference (GHR) contains information on Aceruloplasminemia. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a 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.