1. Tangier Disease An explanation of this disease and its name, its causes and treatment.Category Health Conditions and Diseases Tangier......tangier disease (TD) is a genetic disorder of cholesterol transport namedfor the secluded island of Tangier, located off the coast of Virginia. http://www.ncbi.nlm.nih.gov/disease/tangier.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View on chromosome 9 Databases PubMed the literature Key Papers Recent literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders Information American Heart Association fighting heart disease and stroke National Heart, Lung and Blood Institute, NIH cardiovascular information TANGIER DISEASE (TD) is a genetic disorder of cholesterol transport named for the secluded island of Tangier, located off the coast of Virginia. TD was first identified in a five-year-old inhabitant of the island who had characteristic orange tonsils, very low levels of high density lipoprotein (HDL) or 'good cholesterol', and an enlarged liver and spleen. TD is caused by mutations in the (ATP-binding cassette) gene on chromosome 9q31. codes for a protein that helps rid cells of excess cholesterol. This cholesterol is then picked up by HDL particles in the blood and carried to the liver, which processes the cholesterol to be reused in cells throughout the body. Individuals with TD are unable to eliminate cholesterol from cells, leading to its buildup in the tonsils and other organs. The discovery of this important cholesterol transport gene may lead to a better understanding of the inverse relationship between HDL levels and coronary artery disease, an important killer in the US. New drugs that regulate HDL levels may be developed and such drugs would not only help individuals with TD, but also people with more common disorders such as familial HDL deficiency. This is a good illustration of how research into rare diseases can sometimes help more common disorders.

2. Tangier Disease An article about his disease, its symptoms, clinical symptoms, diagnosis and some dietary changes. http://endeavor.med.nyu.edu/student-org/ama/docs/mgb1999-2000/ab14.htm

3. Tangier Disease By Jackie Newman An article about this rare disease, its history, characteristics of the disease and the treatments. http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997 Case Studies/J. Newman

Tangier Disease by Jackie Newman Tangier Disease is an extremely rare autosomal recessive metabolic disorder. Documentation shows that as of 1988, 27 cases of Tangier Disease had been reported (Makrides pg.465) and in 1992 the reported cases were still fewer than 50 persons worldwide (Thoene pg.265). The majority of the cases tend to localize in one single area of the U.S., Tangier Island, Virginia. The fact that most of the people that are affected by Tangier disease all live in close proximity to one another could be due to Founder's effect. The original settlers to the island came in 1686 and it is possible that one or two of them were carriers of the disease or actually had the symptoms and passed it down through the blood line. Characteristics of Tangier Disease include increased levels or even a complete absence of high-density lipoproteins (HDL) concentrations in one's plasma, low cholesterol levels in the plasma, increased cholesteryl esters in the tonsils, spleen, liver, skin and lymph nodes. One easily visual characteristic usually found in children with Tangier disease is the presence of enlarged, yellow-orange tonsils. Initial research of Tangier disease showed a marked decrease in the HDL concentrations when compared to normal controls. In some cases the reduction was as great as 50% (Schmitz pg.6306). Scientists studied the HDL concentrations and looked for any possible links in its involvement with the disease. They specifically looked at the apo A-I (apolipoprotein) concentrations, which is a major protein component of HDL.

4. Tangier Disease Disease Type Genetic Disease SubType Chromosome 9 In tangier disease exact link between the underlying cause, and the observed symptoms and physiological effects remain unknown. http://www.diseasedir.org.uk/genetic/gene0901.htm

Tangier Disease Disease Type: Genetic Disease Sub-Type: Chromosome 9 Pathology In Tangier disease exact link between the underlying cause, and the observed symptoms and physiological effects remain unknown. Tangiers disease is characterised by a defect in the efflux (flowing out of the cell) of cholesterol and its associated esters. This is detected in a large reduction in high-density lipoprotein (HDL) HDL is important because it redistributes fat around the body. On consumption of a meal, fat is first patched into 'chylomicrons' in the intestine. The Chylomicrons are absorbed into the liver, which processes them and releases them as VLDL, and LDL lipoproteins. The VLDL and LDL are distributed throughout the body, and absorbed by a variety of tissues. These tissues and organs then re-emit the particles as HDL lipoportiens to recycle unused cholesterol back to the liver. It is this final step which is in some way defective in Tangiers disease, surprisingly however, it leads to large deposits of cholesterol in the tonsils, and not the more common HDL emmiter tissues, for example muscles. It is thought that the repackaging into HDL requires either a Apolipoprotein mediated mechanism, or a aqueos method. In Tangiers disease it is thought that only the apolipoprotein mediated mechanism is at fault as this method is known to be used by Macrophage cells, which are present in the tonsils.

5. The Scientist - The Race To Find The Tangier Disease Gene The Race to Find the tangier disease Gene. This paper had data from five familiesto demonstrate numerous mutations in ABCA1 that cause tangier disease. http://www.the-scientist.com/yr2001/oct/hot_011001.html

The Scientist 15[19]:21, Oct. 1, 2001 HOT PAPER The Race to Find the Tangier Disease Gene Rare disorder sheds some light on a common killer: coronary artery disease E-mail article By Brendan A. Maher For this article, Brendan A. Maher interviewed Michael R. Hayden , director and senior scientist, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Canada; Stephan Rust Gerd Schmitz , a physician and director of the Institut for Clinical Chemistry and Laboratory Medicine, University Hospital, Regensburg. Data from the Web of Science (ISI, Philadelphia,) show that Hot Papers are cited 50 to 100 times more often than the average paper of the same type and age. Nature Genetics , 22; 347-351, August 1999. (Cited in 198 papers) Nature Genetics , 22; 352-355, August 1999. (Cited in 193 papers) A. Brooks-Wilson, M. Marcil, S. M. Clee, L. Zhang, K. Roomp, M. van Dam, L. Yu, C. Brewer, J. A. Collins, H.O.F. Molhuizen, O. Loubser, B.F. F. Ouelette, K. Fichter, K.J.D. Ashbourne-Excoffon, C.W. Sensen, S. Scherer, S. Mott, M. Denis, D. Martindale, J. Frolich, K. Morgan, B. Koop, S. Pimstone, J.J.P. Kastelein, J. Genest Jr., M. R. Hayden, "Mutations in in Tangier disease and familial high-density lipoprotein deficiency,"

6. HONselect - Tangier Disease Translate this page English tangier disease, - A-alphalipoprotein Neuropathy - Analphalipoproteinemia- Familial High-Density Lipoprotein Deficiency Disease http://www.hon.ch/HONselect/RareDiseases/C10.668.829.800.875.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Tangier Disease - A-alphalipoprotein Neuropathy - Analphalipoproteinemia - Familial High-Density Lipoprotein Deficiency Disease - Hypoalphalipoproteinemia, Familial - Lipoprotein Deficiency Disease, HDL, Familial - Tangier Disease Neuropathy Français: TANGIER, MALADIE - HYPOALPHALIPOPROTEINEMIE Deutsch: Tangier-Krankheit - Lipoproteine, HDL- - Retinitis pigmentosa - A-Alphalipoprotein-Neuropathie - Alpha-Lipoprotein-Mangelkrankheit, familiäre - Analphaliproteinämie - Familiäre HDL-Mangelkrankheit Español: ENFERMEDAD DE TANGIER - NEUROPATIA POR A-ALFALIPOPROTEINA - ENFERMEDAD POR DEFICIENCIA DE LIPOPROTEINA ALFA FAMILIAR - ANALFALIPOPROTEINEMIA - ENFERMEDAD POR DEFICIENCIA DE LIPOPROTEINA DE ALTA DENSIDAD FAMILIAR - HIPOALFALIPOPROTEINEMIA FAMILIAR - ENFERMEDAD POR DEFICIENCIA DE LIPOPROTEINA HDL FAMILIAR Português: DOENCA DE TANGIER - NEUROPATIA ALFALIPOPROTEINA-A - DOENCA DA DEFICIENCIA DE ALFA-LIPOPROTEINA FAMILIAR - ANALFALIPOPROTEINEMIA - DOENCA DA DEFICIENCIA DE LIPOPROTEINAS DE ALTA DENSIDADE FAMILIAR - HIPOALFALIPOPROTEINEMIA FAMILIAR - DOENCA DA DEFICIENCIA DE LIPOPROTEINA HDL FAMILIAR HONselect ressources Definition: Yes Articles: Yes Images: Yes News: No Conferences: No Clinical trials: No Web sites: English Yes Français No Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C10.668.829.800.875.html

7. 172 A Defective Gene Associated With Atherosclerosis Tangier tangier disease was first discovered nearly 40 years ago by Donald Fredrickson and colleagues in two sibs living on http://www.faseb.org/genetics/ashg99/f172.htm

8. Tangier Disease Abstract. tangier disease. LF. Haas, WI. Austad and JD. http://www3.oup.co.uk/jnls/supplements/braini/hdb/Volume_97/Issue_02/970351.sgm.

Volume 97: January - December 1974 Issue 2: June 1974 Abstract Tangier disease LF Haas WI Austad and JD Bergin Pages: Part of the OUP Brain WWW service General Information Click here to register with OUP. This page is maintained by OUP admin Last updated 14 May 97 Part of the OUP Journals World Wide Web service Oxford University Press, 1997

9. SmartEngine - SmartGuide ( DISEASE : Tangier Disease ) All about DISEASE tangier disease from SmartEngine.com Search For . DISEASE tangier disease. Categories (1-1 of 1) http://disease.smartengine.com/shell/smartpage/Tangier_Disease

SmartGuide Web Auctions DISEASE : Tangier Disease Featured Web Pages Tangier Disease Evaluation at the NIH - http://patientrecruitment.nhlbi.nih.gov The National Heart, Lung and Blood Institute is actively seeking patients with tangier disease to receive free evaluation as part of clinical research studies. Categories (1-1 of 1) Health: Conditions_and_Diseases: Nutrition_and_Metabolism_Disorders: Cholesterol_and_Other_Fats: Tangier Web Pages Tangier Disease An explanation of this disease and its name, its causes and treatment. - http://www.ncbi.nlm.nih.gov/disease/tangier.html Health: Conditions and Diseases: Nutrition and Metabolism Disorders: Cholesterol and Other Fats: Tangier Tangier Disease An article about his disease, its symptoms, clinical symptoms, diagnosis and some dietary changes. - http://endeavor.med.nyu.edu/student-org/ama/docs/mgb1999-2000/ab14.htm Health: Conditions and Diseases: Nutrition and Metabolism Disorders: Cholesterol and Other Fats: Tangier Tangier Disease by Jackie Newman An article about this rare disease, its history, characteristics of the disease and the treatments. - http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997%20Case%20Studies/J.%20Newman1.html

10. Entrez-PubMed Comment in Nat Genet. 1999 Aug;22(4)3168. Click here to read Mutations inABC1 in tangier disease and familial high-density lipoprotein deficiency. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

11. Tangier Disease By Jackie Newman tangier disease. by Jackie Newman. tangier disease is an extremely rare autosomal recessive metabolic disorder. http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997%20Case%20Studies/J.%20

Tangier Disease by Jackie Newman Tangier Disease is an extremely rare autosomal recessive metabolic disorder. Documentation shows that as of 1988, 27 cases of Tangier Disease had been reported (Makrides pg.465) and in 1992 the reported cases were still fewer than 50 persons worldwide (Thoene pg.265). The majority of the cases tend to localize in one single area of the U.S., Tangier Island, Virginia. The fact that most of the people that are affected by Tangier disease all live in close proximity to one another could be due to Founder's effect. The original settlers to the island came in 1686 and it is possible that one or two of them were carriers of the disease or actually had the symptoms and passed it down through the blood line. Characteristics of Tangier Disease include increased levels or even a complete absence of high-density lipoproteins (HDL) concentrations in one's plasma, low cholesterol levels in the plasma, increased cholesteryl esters in the tonsils, spleen, liver, skin and lymph nodes. One easily visual characteristic usually found in children with Tangier disease is the presence of enlarged, yellow-orange tonsils. Initial research of Tangier disease showed a marked decrease in the HDL concentrations when compared to normal controls. In some cases the reduction was as great as 50% (Schmitz pg.6306). Scientists studied the HDL concentrations and looked for any possible links in its involvement with the disease. They specifically looked at the apo A-I (apolipoprotein) concentrations, which is a major protein component of HDL.

12. The Scientist :: Flipping The Fat-Sensing Switch, Volume 16, Issue 16, Aug. 19, When the molecular basis of tangier disease was discovered in 1999,1 researchers lined up to study this orphan genetic disorder. http://www.the-scientist.com/yr2002/aug/hot_020819.html

Search Advanced Search Previous Next Flipping the Fat-Sensing Switch By Brendan A. Maher Image: Courtesy of David J. Mangelsdorf YIN AND YANG: Although they play opposite roles in bile acid production, these RXR heterodimers synergistically modulate cholesterol absorption and transport. When the molecular basis of Tangier disease was discovered in 1999, researchers lined up to study this orphan genetic disorder. Patients with Tangier have a propensity for heart disease and atherosclerosis, making this rare malady a model for some pressing health problems found in industrialized nations. Following close behind the discovery of the Tangier gene were two studies, now deemed Hot Papers, that examined some of the molecular mechanisms upstream of the ATP-binding cassette A1 (ABCA1) involved in cholesterol transport and defective in patients with Tangier. One in vitro study demonstrated an orphan nuclear hormone receptor that senses the presence of cholesterol and turns on The second paper showed how molecules activating this gene and related pathways can block absorption of dietary cholesterol in mice. No one missed the obvious therapeutic applications, but figuring out how safely to flip the fat-sensing switch continues to elude them.

13. HUM-MOLGEN: The Inside Story Of Tangier Disease (The Scientist) your information resource in human molecular genetics. tangier disease is a rare genetic disorder of lipid metabolism. http://www.hum-molgen.org/bb/Forum7/HTML/000552.html

home genetic news bioinformatics biotechnology ... register for news alert The inside story of Tangier Disease (The Scientist) September, 27 2001 15:54 Tangier disease is a rare genetic disorder of lipid metabolism. Study of this disease has provided important insight into cholesterol metabolism and a common metropolitan disease, coronary artery disease. This article presented interviews with some of the key players: Michael R. Hayden, director and senior scientist, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Canada; Stephan Rust, cholesterol metabolism group leader at the Institut für Arterioskleroseforschung an der Westfälischen Wilhelms-Universistät; and Gerd Schmitz, a physician and director of the Institut for Clinical Chemistry and Laboratory Medicine, University Hospital, Regensburg. Full story in The Scientist, Oct 1, 2001 Author: awilo Generated by News Editor 2.0 by Kai Garlipp WWW: Kai Garlipp Frank S. Zollmann HUM-MOLGEN

14. Proximal Sensory Brachial plexopathy. Rule out Myelopathy. Ana-lipoproteinemia (tangier disease)l ATP binding cassette transporter (ABC1) ; Chromosome 9q31; Codominant http://www.neuro.wustl.edu/neuromuscular/nanatomy/proxsens.html

Front Search Index Links ... Patient Info Sensory involvement: Proximal Neuronopathies Paraneoplastic (anti-Hu) Autoimmune: Sjogren's Hereditary Toxic Pyridoxine intoxication cis-platinum Hereditary neuropathy An- a -lipoproteinemia (Tangier) Acute Intermittent Porphyria ... Small fiber neuropathies : Proximal pain Local neuropathy Thoracic neuropathies Diabetic Herpes Zoster Other proximal nerves Meralgia paresthetica: Lateral cutaneous nerve of thigh Brachial plexopathy Rule out: Myelopathy An- a -lipoproteinemia (Tangier disease) l ATP binding cassette transporter (ABC1) ; Chromosome 9q31; Codominant Genetic Same locus as Familial HDL deficiency ABC1 Protein Energy dependent transport of substrates across membranes Intracellular cholesterol transport Other ABC defects Systemic: Cystic fibrosis; Familial intrahepatic cholestasis Neural: Adrenoleukodystrophy ; Zellweger Eye: Stargardt; Retinitis pigmentosa; Cone-Rod dystrophy Neurologic features Onset 1st to 7th decade Neuropathy presenting feature in 30% Sensory Neuropathy: "Pseudosyringomyelic" Course: Slowly progressive Facial diplegia Hand muscle wasting Mononeuropathies Isolated or multiple Oculomotor; Long thoracic; Limb

15. Lipids Online Slides: Tangier Disease, Apolipoprotein A-I, Tonsils apolipoprotein AI. tangier disease. tangier disease. tangier disease Slide Tray. SearchSlides. Index of Slide Contents. search tangier disease results 4. 1 http://www.lipidsonline.org/slides/slide01.cfm?q=Tangier disease

16. Lipids Online Slides: Tonsils, Tangier Disease, Hepatosplenomegaly tangier disease. tangier disease Slide Tray. tangier disease. Physiologyand Pathophysiology of HDL Metabolism (Daniel J. Rader, MD). http://www.lipidsonline.org/slides/slide01.cfm?q=tonsils

17. [Tangier Disease Collage] [1960s] Profiles in Science The Donald Fredrickson Papers. Title Tangierdisease collage (high resolution jpg) High resolution version http://profiles.nlm.nih.gov/FF/B/B/D/P/

The Donald Fredrickson Papers Title: [Tangier disease collage] High resolution version (60,406,144 Bytes) Description: A collage showing (clockwise from top left) Donald S. Fredrickson and Paul Altrocchi sitting on a boat; a clipping from a magazine article announcing Fredrickson's discovery; the location of Tangier Island, Virginia in the Chesapeake Bay; unidentified object; unidentified woman; a photo of infected tonsils; and patients Timothy Laird and sister Elaine with their mother, Frances. Item is a photocopy. Number of Image Pages: 1 (1,432,358 Bytes) Date Supplied: Rights: Courtesy of Donald S. Fredrickson. The National Library of Medicine's Profiles in Science profiles@nlm.nih.gov Exhibit Category: Lipid Metabolism and Genetic Disease, 1953-1974 Unique Identifier: FFBBDP Document Type: Photographic prints Cartographic materials Format: image/jpeg image/tif Physical Condition: Good Metadata Last Modified Date: Search The Donald Fredrickson Papers Profiles in Science U.S. National Library of Medicine

18. Nature Publishing Group 4 pp 352 355 tangier disease is caused by mutations in the gene encoding ATP-bindingcassette transporter 1 Stephan Rust 1 , Marie Rosier 2 , Harald Funke 1 http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v22/n4/full/ng0899_3

19. Nature Publishing Group Assignment of tangier disease to chromosome 9q31 by a graphical linkage exclusionstrategy Stephan Rust 1 , Michael Walter 1, 2 , Harald Funke 1, 2 , Arnold http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v20/n1/full/ng0998_9

20. 173 Mutations In Transportin (ABC1) In Tangier Disease And Program Nr 173 Mutations in transportin (ABC1) in tangier disease and familialHDL deficiency. AR BrooksWilson 1 , M. Marcil 1 , SM Clee 2 , LH. http://www.faseb.org/genetics/ashg99/f173.htm

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