Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Tangier Disease

Tangier disease is an autosomal codominant condition. Mutations of the ABCA1 gene impair cholesterol efflux from macrophages causing cholesterol accumations in those cells. Clinical manifestations include orange tonsils, spleen and liver swelling, accelerated cardiovascular disease and peripheral neuropathy.

Clinical Findings

The clinical picture id dominated by the effect of cholesterol depositions in all macrophages containing tissues. Tonsilles change color from red through orange to yellowish. In liver and spleen it causes swelling, hepatosplenomegaly. In vascular tissues it is responsible for accelerated arteriosclerosis. In Swan cells it causes peripheral neuropathy inluding sensory and motor neurons.

Management

The sole possibility to improve the disease is through low-fat diet. Lipid lowering drugs have no effect.

Systematic

Hereditary lipid disorders
Attenuated cholesterol lowering by statins
Disorders of mRNA editing
Disturbances of body fat distribution
Disturbed regulators of lipid and carbohydrate metabolism
Dyslipidemia
Hepatic CPT-deficiency type 1A
Neutral lipid storage disease
Sea-blue histiocyte disease
Statin intolerance
Tangier Disease
ABCA1

References:

1.

Young SG et al. (1999) The ABCs of cholesterol efflux.

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2.

Brooks-Wilson A et al. (1999) Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

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3.

Bodzioch M et al. (1999) The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.

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4.

Rust S et al. (1999) Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.

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5.

Remaley AT et al. (1999) Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred.

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6.

Rees A et al. (1984) Restriction enzyme analysis of the apolipoprotein A-I gene in fish eye disease and Tangier disease.

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7.

FREDRICKSON DS et al. (1964) THE INHERITANCE OF HIGH DENSITY LIPOPROTEIN DEFICIENCY (TANGIER DISEASE).

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8.

Ferrans VJ et al. (1975) The pathology of Tangier disease. A light and electron microscopic study.

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9.

Utermann G et al. (1975) Plasma lipoprotein abnormalities in a case of primary high-density lipoprotein (HDL) deficiency.

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10.

Schippling S et al. (2008) Severe Tangier disease with a novel ABCA1 gene mutation.

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11.

Assmann G et al. (1977) The lipoprotein abnormality in Tangier disease: quantitation of A apoproteins.

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12.

Assmann G et al. (1977) Isolation and characterization of an abnormal high density lipoprotein in Tangier Diesase.

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13.

Brook JG et al. (1977) Tangier disease (alpha-lipoprotein deficiency).

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14.

Assmann G et al. (1977) Characterization of high density lipoproteins in patients heterozygous for Tangier disease.

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15.

Schaefer EJ et al. (1978) Metabolism of high-density lipoprotein apolipoproteins in Tangier disease.

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16.

Schmitz G et al. (1985) Interaction of high density lipoproteins with cholesteryl ester-laden macrophages: biochemical and morphological characterization of cell surface receptor binding, endocytosis and resecretion of high density lipoproteins by macrophages.

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17.

Schmitz G et al. (1985) Tangier disease: a disorder of intracellular membrane traffic.

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18.

Law SW et al. (1985) Tangier disease. The complete mRNA sequence encoding for preproapo-A-I.

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19.

Makrides SC et al. (1988) Sequence and expression of Tangier apoA-I gene.

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20.

Pressly TA et al. (1987) Ocular complications of Tangier disease.

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21.

Frohlich J et al. (1987) Interaction of high density lipoprotein with adipocytes in a new patient with Tangier disease.

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22.

Pietrini V et al. (1985) Neuropathy in Tangier disease: A clinicopathologic study and a review of the literature.

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23.

Kocen RS et al. (1967) Familial alpha-lipoprotein deficiency (Tangier disease) with neurological abnormalities.

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24.

Engel WK et al. (1967) Neuropathy in Tangier disease. Alpha-Lipoprotein deficiency manifesting as familial recurrent neuropathy and intestinal lipid storage.

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25.

Lux SE et al. (1972) Studies on the protein defect in Tangier disease. Isolation and characterization of an abnormal high density lipoprotein.

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26.

Greten H et al. (1974) Lipoproteins and lipolytic plasma enzymes in a case of tangier disease.

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27.

Clifton-Bligh P et al. (1972) Tangier disease. Report of a case and studies of lipid metabolism.

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28.

Pollock M et al. (1983) Peripheral neuropathy in Tangier disease.

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29.

Schmitz G et al. (1983) Tangier disease: defective recombination of a specific Tangier apolipoprotein A-I isoform (pro-apo A-i) with high density lipoproteins.

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30.

Schaefer EJ et al. (1981) Metabolism of high density lipoprotein subfractions and constituents in Tangier disease following the infusion of high density lipoproteins.

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31.

Kay LL et al. (1982) Tangier disease: a structural defect in apolipoprotein A-I (apoA-I Tangier).

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32.

Suarez BK et al. (1982) Tangier disease: heterozygote detection and linkage analysis.

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33.

Zannis VI et al. (1982) Abnormal apoprotein A-I isoprotein composition in patients with Tangier disease.

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34.

Schaefer EJ et al. (1980) Coronary heart disease prevalence and other clinical features in familial high-density lipoprotein deficiency (Tangier disease).

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35.

Dyck PJ et al. () Adult-onset of Tangier disease: 1. Morphometric and pathologic studies suggesting delayed degradation of neutral lipids after fiber degeneration.

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36.

Cheung MC et al. (1993) Characterization of apolipoprotein A-I- and A-II-containing lipoproteins in a new case of high density lipoprotein deficiency resembling Tangier disease and their effects on intracellular cholesterol efflux.

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37.

Rust S et al. (1998) Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy.

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Update: Sept. 26, 2018