1. 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.

2. Tangier Disease Genes and disease provides short descriptions of inherited disorders. It is hostedby the National Center for Biotechnology Information (NCBI), 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.

3. Tangier Disease An explanation of this disease and its name, its causes and treatment. http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.

4. Tangier Disease tangier disease is an inherited blood disorder involving decreased concentrations of fat compounds in the blood called high density lipoproteins . http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. OMIM - TANGIER DISEASE; TGD http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=205400

6. Tangier Disease Research Has Widespread Implications Larry Husten, "Gene behind tangier disease may help reveal HDL's secrets " The Lancet. v354 i9178, August 14, 1999 p574. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. The Scientist The Race To Find The Tangier Disease Gene, Oct. 1 The Race to Find the tangier disease Gene. By Brendan A. Maher return to webpage. Want to read more? This article is in our premium content http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Tangier Disease tangier disease is an inherited blood disorder involving decreased concentrationsof fat compounds in the blood called high density lipoproteins. http://www.bchealthguide.org/kbase/nord/nord385.htm

var hwPrint=1;var hwDocHWID="nord385";var hwDocTitle="Tangier Disease";var hwRank="1";var hwSectionHWID="nord385-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Tangier Disease Important It is possible that the main title of the report Tangier Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Alpha High-Density Lipoprotein Deficieny Alphalipoproteinemia Analphalipoproteinemia Familial Alpha-Lipoprotein Deficiency Familial High-Density Lipoprotein Deficiency Disorder Subdivisions None General Discussion Tangier Disease is an inherited blood disorder involving decreased concentrations of fat compounds in the blood called high density lipoproteins. Large amounts of these compounds may accumulate in certain organs of the body causing tissue discoloration. In later stages, these accumulations may cause organ enlargement and/or blood circulation problems. Resources National Tay-Sachs and Allied Diseases Association, Inc.

9. [Tangier Disease Collage] [1960s] Lipid Metabolism and Genetic Disease, 19531974 Relation tangier disease Tonsils May Cure Hearts 1967 Box Number MD7 Unique Identifier http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. Tangier Disease tangier disease is an inherited blood disorder involving decreased concentrationsof fat compounds in http://my.webmd.com/hw/health_guide_atoz/nord385.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Tangier Disease Important It is possible that the main title of the report Tangier Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Alpha High-Density Lipoprotein Deficieny Alphalipoproteinemia Analphalipoproteinemia Familial Alpha-Lipoprotein Deficiency Familial High-Density Lipoprotein Deficiency Disorder Subdivisions None General Discussion Tangier Disease is an inherited blood disorder involving decreased concentrations of fat compounds in the blood called high density lipoproteins. Large amounts of these compounds may accumulate in certain organs of the body causing tissue discoloration. In later stages, these accumulations may cause organ enlargement and/or blood circulation problems. Resources National Tay-Sachs and Allied Diseases Association, Inc.

11. Tangier Disease By Jackie Newman tangier disease by Jackie Newman tangier disease is an extremely rare autosomal recessive metabolic disorder. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. High Density Lipoproteins In Health And In Disease may lead to disease in humans. A novel class of intracellular cholesterol transport defects underlie the cellular defect in tangier disease or http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. MyDNA.com - Tangier Disease myDNA is a consumer focused health, genetics, and genomics information provideroffering disease condition information, health wellness tips, http://www.mydna.com/genes/genetics/disorders/disease/nutritional/tangier.html

@import url(http://www.mydna.com/plone.css); @import url(http://www.mydna.com/ploneCustom.css); myDNA.com Search Yellow Pages News ... Diets Search For In Entire Site Articles News Images Advanced Search Home Genetics Center ... Nutritional and Metabolic Tangier Disease Page Tools Print This Page E-Mail This Page Add to Favorites Genetics Genetics News Ask Dr. DNA Top Tens Genetics 101 Genetic Testing Genetic Disorders Genes and Disease Blood Diseases Cancer Digestive System Ear, Nose and Throat Female-Specific Disease Glands and Hormones Heart and Blood Vessels Immune System Male Specific Disease Muscle and Bone Neonatal Diseases Nervous System Nutritional and Metabolic Respiratory Diseases Skin, Connective Tissue

14. Postprandial Hypertriglyceridaemia In Patients With Tangier Postprandial hypertriglyceridaemia in patients with tangier disease G Kolovou1 , D Daskalova1 , K Anagnostopoulou1 , I Hoursalas1 , V Voudris1 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. MyDNA.com - Genes And Disease tangier disease tangier disease Spinocerebellar Ataxia Spinocerebellar Ataxia TaySachs Disease Tay-Sachs Disease http://www.mydna.com/genes/genetics/disorders/disease

@import url(http://www.mydna.com/plone.css); @import url(http://www.mydna.com/ploneCustom.css); myDNA.com Search Yellow Pages News ... Diets Search For In Entire Site Articles News Images Advanced Search Home Genetics Center ... Genetic Disorders Genes and Disease Page Tools Print This Page E-Mail This Page Add to Favorites Genetics Genetics News Ask Dr. DNA Top Tens Genetics 101 Genetic Testing Genetic Disorders Genes and Disease Blood Diseases Cancer Digestive System Ear, Nose and Throat Female-Specific Disease Glands and Hormones Heart and Blood Vessels Immune System Male Specific Disease Muscle and Bone Neonatal Diseases Nervous System Nutritional and Metabolic Respiratory Diseases Skin, Connective Tissue

16. Human ATP-binding Cassette Transporter 1 (ABC1) Genomic binding cassette transporter 1 (ABC1) Genomic organization and identification of the genetic defect in the original tangier disease kindred http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. The A B Cs Of Tangier Disease Patients with tangier disease have very low levels of HDL due to mutations in aprotein called ABCA1. Exactly how ABCA1 controls HDL formation was not clear http://www.medicalnewstoday.com/medicalnews.php?newsid=22493

18. Generation Of Pre- 1-HDL And Conversion Into {alpha}-HDL Evidence for Disturbed HDL Conversion in tangier disease Yadong Huang ; Arnold von Eckardstein ; Shili Wu ; Claus Langer ; Gerd Assmann http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. Mutations In Transporter Protein Effect HDL Levels In The General Population Individuals with tangier disease have essentially no HDL in the blood. tangier disease develops. Given the ABCA1 transporter s essential role in HDL http://www.medicalnewstoday.com/medicalnews.php?newsid=15775

20. The A B Cs Of Tangier Disease The A B Cs of tangier disease 13 Apr 2005. High levels of HDL, the "good" cholesterol, are associated with low cardiovascular disease risk. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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