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Hierarchy  - English - French - German - Spanish - Portuguese - Italian - Dutch    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 / See also: Lipoproteins, HDL  Retinitis Pigmentosa    MeSH 2010 © U.S. National Library of Medicine®. Browse - New search

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 © Genetics Home Reference Browse - New search       Web resources for "Tangier Disease"   English (5)  French (1)  German (1)      Italian (1)   = Site with HON description   -   = Site with a robot description info: enter the site: (click below) domain of the site:   HONcode - Tangier disease - Genetics Home Reference ghr.nlm.nih.gov 2 HONcode - Orphanet: Tangier disease www.orpha.net 2 rare-diseases — National Organization for Rare Disorders www.rarediseases.org   HONcode - http://www.healthatoz.com/healthatoz/Ato... www.healthatoz.com   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 Browse - New search       Medical image(s) for "Tangier Disease" click below to enlarge www.ncbi.nlm.nih.gov Copyright © National Center for Biotechnology Information Genes and disease - Tangier Disease See also: - Retinitis Pigmentosa Browse - New search       Medical News for "Tangier Disease" No results for this term. More health news Broader term(s): - Nervous System Diseases Browse - New search       Scientific articles from MEDLINE for "Tangier Disease"   - English - French - German - Spanish - Portuguese - Italian - Dutch     All recent articles  Therapy:  by recall    /  by precision  Diagnosis:  by recall    /  by precision  Etiology:  by recall    /  by precision  Prognosis:  by recall    /  by precision Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy Browse - New search       Clinical Trials for "Tangier Disease" ClinicalTrials.gov - Linking patients to medical research Quantitative Genetic Analysis of Lipid Research Clinic Family Data 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 Browse - New search       Medical Conferences/Events for "Tangier Disease" No results for this term. Consult HON's world-wide database of medical meetings Browse - New search       Refine the search for  "Tangier Disease" 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®. Browse - New search

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