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Other Names for this Disease
- A-alphalipoprotein neuropathy
- Alpha high density lipoprotein deficiency disease
- Cholesterol thesaurismosis
- Familial high density lipoprotein deficiency disease
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Tangier disease is caused by mutations in the ABCA1 gene. This gene provides instructions for making a protein that releases cholesterol and phospholipids from cells. These substances are used to make HDL, which transports them to the liver. Mutations in the ABCA1 gene prevent the release of cholesterol and phospholipids from cells. As a result, these substances accumulate within cells, causing certain body tissues to enlarge and the tonsils to acquire a yellowish-orange color. A buildup of cholesterol can be toxic to cells, leading to impaired cell function or cell death. In addition, the inability to transport cholesterol and phospholipids out of cells results in very low HDL levels, which increases the risk of cardiovascular disease. These combined factors cause the signs and symptoms of Tangier disease.
Last updated: 8/19/2011
- Tangier disease. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/tangier-disease. Accessed 8/19/2011.