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GENATLAS PHENOTYPE

last update : 18/10/2008

Symbol	HDLDT1
Location	9q31.1
Name	Tangier disease
Other name(s)	high density lipoprotein deficiency, type 1 analphalipoproteinemia
Corresponding gene	ABCA1
Other symbol(s)	TGD,TD
Main clinical features	characterized by orange tonsils enlarged liver, spleen, lymph nodes, associated with very low HDL cholesterol level (analphalipoproteinemia), raised triglycerides, peripheral neuropathy and accumulation of cholesterol esters in macrophages
Genetic determination	autosomal recessive
Function/system disorder	metabolism/lipoprotein-lipid
Type	disease

Gene product

Name	ABC binding cassette (ABCA1)

Remark(s)