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Tangier disease
Summary
- Synonym
-
- familial alpha-lipoprotein deficiency
- familial high density lipoprotein deficiency
- Definition
- A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31.
- Super Class
- hypolipoproteinemia
Related Genes
