Aceruloplasminemia
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Overview
| Aceruloplasminemia Classification and external resources | |
| ICD-10 | E83.1 |
|---|---|
| ICD-9 | 275.0 |
| OMIM | 604290 |
| DiseasesDB | 30055 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2] Phone:617-525-6884
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Aceruloplasminemia is an autosomal recessive disorder characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus. Iron accumulates in the pancreas, liver and brain. Accumulation in the eye may lead to retinal degeneration. The disease is caused by mutations in the ceruloplasmin gene.
References
Acknowledgements
The content on this page was first contributed by: Scott P. Williams.
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
