Tangier disease

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 c

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.

Signs and symptoms

• Peripheral axonal neuropathy
• Opacification of the corneal stroma
• Decreased circulating HDL-C concentration
• Distal amyotrophy
• Nail dysplasia
• Impaired temperature sensation
• Hepatomegaly
• Elevated circulating apolipoprotein A-II concentration
• Dry skin
• Ectropion

Also known as: familial alpha-lipoprotein deficiency; familial high density lipoprotein deficiency