Tangier disease

Common Name(s)

Tangier disease

Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) - the 'good cholesterol' - in the blood. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease. Tangier disease is caused by mutations in the ABCA1 gene. It is inherited in an autosomal recessive pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tangier disease" for support, advocacy or research.

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CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

Last Updated: 31 Jul 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tangier disease" for support, advocacy or research.

Logo
CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

http://www.climb.org.uk/

Last Updated: 31 Jul 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Tangier disease" returned 56 free, full-text research articles on human participants. First 3 results:

Platelet activating factor levels and metabolism in Tangier disease: a case study.
 

Author(s): Vana Kolovou, Vasiliki D Papakonstantinou, George Stamatakis, Sophia N Verouti, Marianna N Xanthopoulou, Genovefa Kolovou, Constantinos A Demopoulos

Journal:

 

Tangier disease (TD) is a phenotypic expression of rare familial syndrome with mutations in the ABCA1 transporter. The risk of coronary artery disease in patients with TD is variable. On the other hand the pivotal role of Platelet-Activating Factor (PAF) mediator in atheromatosis ...

Last Updated: 16 Nov 2012

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Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations.
 

Author(s): Masahiro Koseki, Akifumi Matsuyama, Kazuhiro Nakatani, Miwako Inagaki, Hajime Nakaoka, Ryota Kawase, Miyako Yuasa-Kawase, Kazumi Tsubakio-Yamamoto, Daisaku Masuda, Jose C Sandoval, Tohru Ohama, Yumiko Nakagawa-Toyama, Fumihiko Matsuura, Makoto Nishida, Masato Ishigami, Ken-ichi Hirano, Naoki Sakane, Yoshitaka Kumon, Tadashi Suehiro, Tadashi Nakamura, Iichiro Shimomura, Shizuya Yamashita

Journal: J. Atheroscler. Thromb.. 2009 Jun;16(3):292-6.

 

Tangier disease (TD), caused by deficiency of ATP-binding cassette transporter A1, is characterized by the absence of high density lipoprotein and the accumulation of cholesteryl esters in many tissues. Recently, it has been reported that ABCA1 is expressed in pancreatic beta cells ...

Last Updated: 29 Jul 2009

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Images in cardiovascular medicine. Tangier disease in severely progressive coronary and peripheral artery disease.
 

Author(s): Tiziana Sampietro, Mariarita Puntoni, Federico Bigazzi, Benedetto Pennato, Francesco Sbrana, Beatrice Dal Pino, Antonio AzzarĂ , Enrico Magagnini, Paolo Perossini, Giovanni Cei, Giovanni Bacci

Journal: Circulation. 2009 May;119(20):2741-2.

 

Last Updated: 27 May 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Tangier disease" returned 2 free, full-text review articles on human participants. First 3 results:

Tangier disease and ABCA1.
 

Author(s): J F Oram

Journal: Biochim. Biophys. Acta. 2000 Dec;1529(1-3):321-30.

 

Tangier disease is an autosomal recessive genetic disorder characterized by a severe high-density lipoprotein (HDL) deficiency, sterol deposition in tissue macrophages, and prevalent atherosclerosis. Mutations in the ATP binding cassette transporter ABCA1 cause Tangier disease and ...

Last Updated: 24 Jan 2001

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Tangier disease as a test of the reverse cholesterol transport hypothesis.
 

Author(s): A R Tall, N Wang

Journal: J. Clin. Invest.. 2000 Nov;106(10):1205-7.

 

Last Updated: 4 Dec 2000

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Mendelian Reverse Cholesterol Transport Study
 

Status: Recruiting

Condition Summary: Cholesterol, HDL; Lipid Metabolism, Inborn Errors; Tangier Disease; LCAT Deficiency; CETP Deficiency

 

Last Updated: 21 Feb 2013

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