Tangier disease (OMIM #205400) is an autosomal recessive and familial hypoalphalipoproteinemia (FHA, OMIM #604091), an autosomal dominant disorder caused by a mutation in the ABCA1 gene on chromosome 9q31 leading to accumulation of esterified cholesterol in tissues due to impaired reverse cholesterol transport resulting in reduced levels of plasma HDL (105–108). The gene discussed is ABCA1; the disease is hypoalphalipoproteinemia, primary, 1.