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Concept information

Nervous System Diseases > Neuromuscular Diseases > Peripheral Nervous System Diseases > Polyneuropathies > Tangier Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Hypolipoproteinemias > Hypoalphalipoproteinemias > Tangier Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Hypolipoproteinemias > Hypoalphalipoproteinemias > Tangier Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Hypolipoproteinemias > Hypoalphalipoproteinemias > Tangier Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Dyslipidemias > Hypolipoproteinemias > Hypoalphalipoproteinemias > Tangier Disease

Terme préférentiel

Tangier Disease  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Concepts associés

Synonyme(s)

  • Alpha High Density Lipoprotein Deficiency Disease
  • Analphalipoproteinemia
  • Cholesterol Thesaurismosis
  • HDLDT1
  • High Density Lipoprotein Deficiency, Tangier Type
  • High-Density Lipoprotein Deficiency, Tangier Type
  • High Density Lipoprotein Deficiency, Type 1
  • High-Density Lipoprotein Deficiency, Type I

Qualificatif(s) autorisé(s)

Traductions

  • Maladie de Tangier

    français

  • Analphalipoprotéinémie
  • Déficit familial en HDL de type 1
  • Déficit familial en HDL de type I

URI

http://data.loterre.fr/ark:/67375/JVR-T6QJ6LLL-5

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RDF/XML TURTLE JSON-LD Date de création 29/04/1977, dernière modification le 30/06/2021