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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
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Overview
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]
References
- Tangier disease. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition/tangier-disease. Accessed August 19, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Tangier disease have been answered. See questions and answers. You can also submit a new question.
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General Information
- Genetics Home Reference (GHR) contains information on Tangier disease. Click on the link to go to GHR and review the information.
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- 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 Tangier disease. 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 Tangier disease. Click on the link to go to OMIM and review these resources.