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Other Names for this Disease
- Ceruloplasmin deficiency
- Familial apoceruloplasmin deficiency
- Hereditary ceruloplasmin deficiency
- Systemic hemosiderosis due to aceruloplasminemia
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Aceruloplasminemia is a disorder of iron metabolism. 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.
- Miyajima H. Aceruloplasminemia. GeneReview. http://www.ncbi.nlm.nih.gov/books/NBK1493. Accessed August 3, 2011.
- Aceruloplasminemia. Genetic Home Reference. http://ghr.nlm.nih.gov/condition=aceruloplasminemia. Accessed August 3, 2011.
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On this page
- Genetics Home Reference (GHR) contains information on Aceruloplasminemia. Click on the link to go to GHR and review the information.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Aceruloplasminemia. Click on the link to go to OMIM and review these resources.