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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Tangier disease


Other Names for this Disease

  • A-alphalipoprotein neuropathy
  • Alpha high density lipoprotein deficiency disease
  • Analphalipo-proteinemia
  • Cholesterol thesaurismosis
  • Familial high density lipoprotein deficiency disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is Tangier disease?

What are the symptoms of Tangier disease?

What causes Tangier disease?

How is Tangier disease inherited?

What is Tangier disease?

Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) - the 'good cholesterol' - in the blood. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease. Tangier disease is caused by mutations in the ABCA1 gene. It is inherited in an autosomal recessive pattern.[1]
Last updated: 8/19/2011

What are the symptoms of Tangier disease?

Tangier disease is characterized by significantly reduced levels of high-density lipoprotein (HDL) - the "good" cholesterol - in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease. Additional signs and symptoms of Tangier disease include a slightly elevated amount of fat in the blood; disturbances in nerve function; and enlarged, orange-colored tonsils. Affected individuals often develop atherosclerosis, which is an accumulation of fatty deposits and scar-like tissue in the lining of the arteries. Other features of this condition may include an enlarged spleen, an enlarged liver, clouding of the clear covering of the eye, and type 2 diabetes.[1]
Last updated: 8/19/2011

What causes Tangier disease?

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.[1]
Last updated: 8/19/2011

How is Tangier disease inherited?

Tangier disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[1]
Last updated: 8/19/2011

References
  1. Tangier disease. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/tangier-disease. Accessed 8/19/2011.


Other Names for this Disease
  • A-alphalipoprotein neuropathy
  • Alpha high density lipoprotein deficiency disease
  • Analphalipo-proteinemia
  • Cholesterol thesaurismosis
  • Familial high density lipoprotein deficiency disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.