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Tangier Disease
Definition: An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD.

Synonym(s): A-alphalipoprotein Neuropathy / Analphalipoproteinemia / Tangier Disease Neuropathy / High-Density Lipoprotein Deficiency, Tangier Type / High-Density Lipoprotein Deficiency, Type I / Neuropathy of Tangier Disease / Tangier Hereditary Neuropathy / A alphalipoprotein Neuropathy / Hereditary Neuropathy, Tangier / High Density Lipoprotein Deficiency, Tangier Type / High Density Lipoprotein Deficiency, Type I / Neuropathies, Tangier Disease / Neuropathy, Tangier Disease / Tangier Disease Neuropathies
See also:
Lipoproteins, HDL  Retinitis Pigmentosa   

MeSH 2010 © U.S. National Library of Medicine®.
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  More information from the Genetics Home Reference Website
What is Tangier disease?
Tangier disease is a rare inherited disorder characterized by a severe reduction in the amount of high-density lipoprotein (HDL), often referred to as "good cholesterol," in the bloodstream. High-density lipoproteins are created when a type of protein in the bloodstream, apolipoprotein A1 (apoA1), picks up cholesterol from the cells. People with Tangier disease have a greatly reduced ability to transport cholesterol out of their cells, leading to a deficiency of high-density lipoproteins in the bloodstream and the accumulation of cholesterol in many body tissues. Re ...

How common is Tangier disease?
Tangier disease is a rare disorder with approximately 50 cases identified worldwide. This disorder was originally discovered on Tangier Island off the coast of Virginia, but has now been identified in people from many different countries.


More information from the Genetics Home Reference Website
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  Web resources for "Tangier Disease"
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See also: - Lipoproteins, HDL - Retinitis Pigmentosa

Broader term(s): - Polyneuropathies - Peripheral Nervous System Diseases - Neuromuscular Diseases - Nervous System Diseases - Metabolism, Inborn Errors - Genetic Diseases, Inborn - Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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  Medical image(s) for "Tangier Disease"
click below to enlargeGenes and disease - Tangier Disease
www.ncbi.nlm.nih.gov
Copyright © National Center for Biotechnology Information Genes and disease - Tangier Disease
See also: - Retinitis Pigmentosa
Broader term(s): - Nervous System Diseases
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  Medical News for "Tangier Disease"
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Broader term(s): - Nervous System Diseases

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  Scientific articles from MEDLINE for "Tangier Disease"
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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy

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  Clinical Trials for "Tangier Disease"
ClinicalTrials.gov - Linking patients to medical research

See also: - Lipoproteins, HDL - Retinitis Pigmentosa

Broader term(s): - Polyneuropathies - Peripheral Nervous System Diseases - Neuromuscular Diseases - Nervous System Diseases - Hypoalphalipoproteinemias - Hypolipoproteinemias - Metabolism, Inborn Errors - Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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  Medical Conferences/Events for "Tangier Disease"
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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Nutritional and Metabolic Diseases
              Metabolic Diseases
                  Metabolism, Inborn Errors
                      Lipid Metabolism, Inborn Errors
                          Hypolipoproteinemias
                              Hypoalphalipoproteinemias 
                  Lipid Metabolism Disorders
                      Dyslipidemias
                          Hypolipoproteinemias
                              Hypoalphalipoproteinemias 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Metabolism, Inborn Errors
                      Lipid Metabolism, Inborn Errors
                          Hypolipoproteinemias
                              Hypoalphalipoproteinemias 
      Diseases
          Nervous System Diseases
              Neuromuscular Diseases
                  Peripheral Nervous System Diseases
                      Polyneuropathies 

MeSH 2010 © U.S. National Library of Medicine®.

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