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Tangier Disease

An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD.
Also Known As:
Alpha High Density Lipoprotein Deficiency Disease; Cholesterol Thesaurismosis; HDLDT1; High Density Lipoprotein Deficiency, Tangier Type; High Density Lipoprotein Deficiency, Type 1; High-Density Lipoprotein Deficiency, Tangier Type; High-Density Lipoprotein Deficiency, Type I; Neuropathy of Tangier Disease; Tangier Hereditary Neuropathy; A-alphalipoprotein Neuropathies; Analphalipoproteinemias; Cholesterol Thesaurismoses; High Density Lipoprotein Deficiency, Type I; Neuropathies, A-alphalipoprotein; Neuropathy, A-alphalipoprotein; Thesaurismoses, Cholesterol; Thesaurismosis, Cholesterol; A-alphalipoprotein Neuropathy; Analphalipoproteinemia; Tangier Disease Neuropathy
Networked: 416 relevant articles (11 outcomes, 28 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Lecithin Cholesterol Acyltransferase Deficiency (Lecithin:Cholesterol Acyltransferase Deficiency)
2. Atherosclerosis
3. Stargardt Disease
4. Mononeuropathies (Mononeuritis Multiplex)
5. Lamellar Ichthyosis (Harlequin Ichthyosis)

Experts

1. Hayden, Michael R: 9 articles (01/2015 - 10/2002)
2. Genest, Jacques: 9 articles (10/2006 - 12/2002)
3. Parks, John S: 7 articles (10/2017 - 05/2005)
4. Marcil, Michel: 7 articles (10/2006 - 12/2002)
5. Krimbou, Larbi: 7 articles (07/2005 - 12/2002)
6. Oram, J F: 7 articles (10/2001 - 04/2000)
7. Yamashita, Shizuya: 6 articles (08/2021 - 08/2002)
8. Remaley, Alan T: 6 articles (08/2010 - 04/2003)
9. Ueda, Kazumitsu: 6 articles (09/2009 - 08/2002)
10. Tall, Alan R: 5 articles (01/2018 - 01/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Tangier Disease:
1. LipidsIBA
2. Apolipoprotein A-I (Apolipoprotein A1)IBA
3. CholesterolIBA
4. ApolipoproteinsIBA
5. HDL LipoproteinsIBA
6. ATP-Binding Cassette Transporters (ABC Transporters)IBA
7. ApoproteinsIBA
8. Proteins (Proteins, Gene)FDA Link
9. miglustat (Zavesca)FDA Link
10. Phospholipids (Phosphatides)FDA LinkGeneric

Therapies and Procedures

1. Therapeutics
2. Ligation
3. Plasma Exchange
4. Coronary Artery Bypass (Coronary Artery Bypass Surgery)
5. Slit Lamp