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Tangier disease

Introduction: Tangier disease

Description of Tangier disease

Tangier disease (medical condition): A rare disorder characterized by a very low level of HDL ...more »

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Tangier disease:
  »Introduction: Tangier disease
  »Symptoms of Tangier disease

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: autosomal recessive disorder of lipoprotein and lipid metabolism characterized by absence in plasma of normal high-density lipoprotein, deficiency of apolipoproteins AI and AII, low to normal low-density lipoproteins, high triglycerides and accumulation in body tissues of cholesteryl esters.
Source: CRISP

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.
Source: MeSH 2007

Tangier disease: Related Topics

These medical condition or symptom topics may be relevant to medical information for Tangier disease:

Tangier disease: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

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

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

Source - Orphanet

Tangier disease as a Disease

Tangier disease (medical condition): See Tangier disease (disease information).
  »Introduction: Tangier disease
  »Symptoms of Tangier disease

Tangier disease: Related Diseases

Tangier disease: Tangier disease is listed as a type of (or associated with) the following medical conditions in our database:

Tangier disease: Article Excerpts

Tangier disease (TD) is a genetic disorder of cholesterol transport named for the secluded island of...(Source: Genes and Disease by the National Center for Biotechnology)

More information on medical condition: Tangier disease:

Tangier disease: Related Disease Topics

These medical disease topics may be related to Tangier disease:

Terms associated with Tangier disease:

Terms Similar to Tangier disease:

Source: Diseases Database

Source - NIH

Source - MeSH 2007

Related Topics

Source - MeSH 2007

Broader terms for Tangier disease

Source - MeSH 2007

Source - CRISP

The term Tangier disease can be used for:

Source: CRISP

Other terms that may be related to Tangier disease:

Source: CRISP

Hierarchical classifications of Tangier disease

The following list attempts to classify Tangier disease into categories where each line is subset of the next.

MeSH 2007 Hierarchy:

MeSH 2007 Hierarchy

MeSH 2007 Hierarchy

MeSH 2007 Hierarchy

External links related to: Tangier disease

Source: Diseases Database

Interesting Medical Articles:

Medical dictionaries:

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