Skip to main content

Medical Subject Headings

Search from vocabulary

Content language

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
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > 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 > Lipid Metabolism Disorders > Dyslipidemias > Hypolipoproteinemias > Hypoalphalipoproteinemias > Tangier Disease

Preferred term

Tangier Disease  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Alpha High Density Lipoprotein Deficiency Disease
  • Analphalipoproteinemia
  • Analphalipoproteinemias
  • Cholesterol Thesaurismoses
  • 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
  • High-Density Lipoprotein Deficiency, Type I
  • Thesaurismoses, Cholesterol
  • Thesaurismosis, Cholesterol

Scope note

  • 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.

History note

  • 1991(1978)

In other languages

URI

http://www.yso.fi/onto/mesh/D013631

Download this concept:

RDF/XML TURTLE JSON-LD Created 4/29/77, last modified 6/30/21