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Definition

Recessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness.

Acronym

HDLD1

Synonyms

Analphalipoproteinemia
Tangier disease
TGD

 
Disclaimer

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