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Disease Tangier Disease

Name Tangier Disease
Synonyms A-alphalipoprotein Neuropathies | A-alphalipoprotein Neuropathy | 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 | Neuropathies, A-alphalipoprotein | Neuropathy, A-alphalipoprotein | Neuropathy of Tangier Disease | Tangier Disease Neuropathy | Tangier Hereditary Neuropathy | TGD | Thesaurismoses, Cholesterol | Thesaurismosis, Cholesterol
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.
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D013631
OMIM® ID 205400
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Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neuromuscular Diseases Has associated chemicals Has associated genes Has associated exposure references Peripheral Nervous System Diseases Has associated chemicals Has associated genes Polyneuropathies Has associated chemicals Has associated genes Tangier Disease Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Hypolipoproteinemias Has associated chemicals Has associated genes Hypoalphalipoproteinemias Has associated chemicals Has associated genes Tangier Disease Has associated chemicals Has associated genes
3. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism Disorders Has associated chemicals Has associated genes Has associated exposure references Dyslipidemias Has associated chemicals Has associated genes Has associated exposure references Hypolipoproteinemias Has associated chemicals Has associated genes Hypoalphalipoproteinemias Has associated chemicals Has associated genes Tangier Disease Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Hypolipoproteinemias Has associated chemicals Has associated genes Hypoalphalipoproteinemias Has associated chemicals Has associated genes Tangier Disease Has associated chemicals Has associated genes

Top ↑ Descendants

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