Other Names for this Disease
- Ceruloplasmin deficiency
- Familial apoceruloplasmin deficiency
- Hereditary ceruloplasmin deficiency
- 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.
 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.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Aceruloplasminemia. We will answer your question and update these pages with new resources and information.
- Genetics Home Reference (GHR) contains information on Aceruloplasminemia. This website is maintained by the National Library of Medicine.
- 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.