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Definition

An autosomal recessive disorder characterized by near absence of plasma high density lipoproteins, low serum HDL cholesterol, and massive tissue deposition of cholesterol esters. Clinical features include large yellow-orange tonsils, hepatomegaly, splenomegaly, enlarged lymph nodes, and often sensory polyneuropathy.

Acronym

TGD

Synonyms

Analphalipoproteinemia
HDLD1
High density lipoprotein deficiency, Tangier Type
High density lipoprotein deficiency 1

 
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