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Tangier disease

Tangier disease: Introduction

Tangier disease: Tangier disease (TD) is a genetic disorder of cholesterol transport named for the secluded island of Tangier, located off the coast of Virginia. TD was first identified ... more about Tangier disease.

Tangier disease: A rare disorder characterized by a very low level of HDL (high-density lipoprotein or "good cholesterol") in the blood. The condition occurs because the body lacks the gene to make a certain protein (Apolipoprotein A1) which normally transports fats from tissues to where it is needed. More detailed information about the symptoms, causes, and treatments of Tangier disease is available below.

Symptoms of Tangier disease

Tangier disease: Related Patient Stories

Tangier disease: Deaths

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Tangier disease: Complications

Read more about complications of Tangier disease.

Causes of Tangier disease

Read more about causes of Tangier disease.

Disease Topics Related To Tangier disease

Research the causes of these diseases that are similar to, or related to, Tangier disease:

Evidence Based Medicine Research for Tangier disease

Medical research articles related to Tangier disease include:

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Research about Tangier disease

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Clinical Trials for Tangier disease

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Tangier disease include:

Statistics for Tangier disease

Tangier disease: Broader Related Topics

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Article Excerpts about Tangier disease

Tangier disease (TD) is a genetic disorder of cholesterol transport named for the secluded island of Tangier, located off the coast of Virginia. TD was first identified in a five-year-old inhabitant of the island who had characteristic orange tonsils, very low levels of high density lipoprotein (HDL) or 'good cholesterol', and an enlarged liver and spleen. (Source: Genes and Disease by the National Center for Biotechnology)

Definitions of Tangier disease:

A rare autosomal recessive familial disorder of cholesterol metabolism, characterized by extremely low HDL-cholesterol, reduced total cholesterol, and increased triglyceride levels in serum. Clinical features include the onset before age 20 years of HEPATOMEGALY; SPLENOMEGALY; the deposition of cholesterol in each TONSIL (creating a yellow-orange appearance); and RETINITIS PIGMENTOSA. A sensorimotor or distal sensory POLYNEUROPATHY occurs in approximately 50% of affected individuals. The condition is associated with decreased synthesis and increased catabolism of APOLIPOPROTEIN A-I and APOLIPOPROTEIN A-II, and a defect in cellular signaling and mobilization of lipids. (From Nat Genet 1998 Sep;20(1):96-8; Adams et al., Principles of Neurology, 6th ed, pp1347-8; Menkes, Textbook of Child Neurology, 5th ed, p118) - (Source - Diseases Database)

Tangier disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Tangier disease, or a subtype of Tangier disease, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Tangier disease as a "rare disease".
Source - Orphanet

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More information about Tangier disease

  1. Tangier disease: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Deaths
  6. Complications
 

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