Tangier disease

Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) 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 ...1

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Symptoms of Tangier disease

Characteristic orange tonsils, very low levels of high density lipoprotein (HDL) or 'good cholesterol', and an enlarged liver and spleen. Individuals with TD are unable to eliminate cholesterol from cells, leading to its buildup in the tonsils and other organs ...2

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Causes of Tangier disease

Cause: 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 ...3

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Diagnosis of Tangier disease

Diagnosis: GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Orphanet lists international laboratories offering diagnostic ...4

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Genetics of Tangier disease

TD is caused by mutations in the ABC1 (ATP-binding cassette) gene on chromosome 9q31. ABC1 codes for a protein that helps rid cells of excess cholesterol. This cholesterol is then picked up by HDL particles in the blood and ...5

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Treatments: Tangier disease

Treatment: To our knowledge there is no specific treatment for Tangier disease. Drugs known to increase high density lipoprotein levels in unaffected people, such as estrogens, nicotinic acid, statins, or phenytoin, do not work in people with Tangier disease.[2] ...6

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Research for Tangier disease

The discovery of this important cholesterol transport gene may lead to a better understanding of the inverse relationship between HDL levels and coronary artery disease, an important killer in the US. New drugs that regulate HDL levels may be developed ...7

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Names and Terminology

Other Names for This Condition

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  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ tangier-disease
  2. Source: NCBI, Genes and Disease (NCBI/NIH): ncbi.nlm.nih.gov/ books/ NBK22201/ 
  3. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 7731/ tangier-disease
  4. ibid.
  5. Source: NCBI, Genes and Disease (NCBI/NIH): ncbi.nlm.nih.gov/ books/ NBK22201/ 
  6. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 7731/ tangier-disease
  7. Source: NCBI, Genes and Disease (NCBI/NIH): ncbi.nlm.nih.gov/ books/ NBK22201/ 

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