Related MeSH Hierarchy (5)
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Lipid Metabolism Disorders » Lipid Metabolism, Inborn Errors » Hypolipoproteinemias » Hypoalphalipoproteinemias » Tangier Disease
Diseases [C] » Nervous System Diseases [C10] » Neuromuscular Diseases » Peripheral Nervous System Diseases » Polyneuropathies » Tangier Disease
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Lipid Metabolism, Inborn Errors » Hypolipoproteinemias » Hypoalphalipoproteinemias » Tangier Disease
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Lipid Metabolism Disorders » Dyslipidemias » Hypolipoproteinemias » Hypoalphalipoproteinemias » Tangier Disease
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Lipid Metabolism, Inborn Errors » Hypolipoproteinemias » Hypoalphalipoproteinemias » Tangier Disease
Description
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. MeSH
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Other Experimental Indicated Drugs (1)
Organization Involved with Other Experimental Indications (1)
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UMLS Data
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