Tangier Disease

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.

Also Known As:

Alpha High Density Lipoprotein Deficiency Disease; Cholesterol Thesaurismosis; HDLDT1; High Density Lipoprotein Deficiency, Tangier Type; High Density Lipoprotein Deficiency, Type 1; High-Density Lipoprotein Deficiency, Tangier Type; High-Density Lipoprotein Deficiency, Type I; Neuropathy of Tangier Disease; Tangier Hereditary Neuropathy; A-alphalipoprotein Neuropathies; Analphalipoproteinemias; Cholesterol Thesaurismoses; High Density Lipoprotein Deficiency, Type I; Neuropathies, A-alphalipoprotein; Neuropathy, A-alphalipoprotein; Thesaurismoses, Cholesterol; Thesaurismosis, Cholesterol; A-alphalipoprotein Neuropathy; Analphalipoproteinemia; Tangier Disease Neuropathy

Nervous System Diseases: 14178
- Neuromuscular Diseases: 2005
  - Peripheral Nervous System Diseases: 11383
    - Polyneuropathies: 5118
      - Tangier Disease: 408
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Hypolipoproteinemias: 24
        Hypoalphalipoproteinemias: 206
        Tangier Disease: 408
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Hypolipoproteinemias: 24
        Hypoalphalipoproteinemias: 206
        Tangier Disease: 408
  - Lipid Metabolism Disorders: 898
    - Dyslipidemias: 18198
      - Hypolipoproteinemias: 24
        Hypoalphalipoproteinemias: 206
        Tangier Disease: 408
    - Inborn Errors Lipid Metabolism
      - Hypolipoproteinemias: 24
        Hypoalphalipoproteinemias: 206
        Tangier Disease: 408

B Weitkamp Selected Research

B Weitkamp Research Topics

Disease

Drug/Important Bio-Agent (IBA)