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Tangier Disease: more detail

Tangier disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Lisa, MS, CGC Andres, 2005
Tangier Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19
Tangier Disease
Tonsils and apolipoproteins;: Lessons about plasma lipoproteins derived from Tangier disease and other mutants (JimeÌnez DiÌaz memorial lecture) by Donald S Fredrickson, 1976

lists with details

Tangier Disease - A-alphalipoprotein Neuropathy - Information Page With HONselec
A rare autosomal recessive familial disorder of cholesterol metabolism, characte
http://www.hon.ch/HONselect/RareDiseases/EN/C10.668.829.800.875.html

Extractions: Tangier Disease Definition: A rare autosomal recessive familial disorder of cholesterol metabolism, characterized by extremely low HDL-cholesterol, reduced total cholesterol, and increased triglyceride levels in serum. Clinical features include the onset before age 20 years of HEPATOMEGALY SPLENOMEGALY ; the deposition of cholesterol in each TONSIL (creating a yellow-orange appearance); and RETINITIS PIGMENTOSA . A sensorimotor or distal sensory POLYNEUROPATHY occurs in approximately 50% of affected individuals. The condition is associated with decreased synthesis and increased catabolism of APOLIPOPROTEIN A-I and APOLIPOPROTEIN A-II , and a defect in cellular signaling and mobilization of lipids. (From Nat Genet 1998 Sep;20(1):96-8; Adams et al., Principles of Neurology, 6th ed, pp1347-8; Menkes, Textbook of Child Neurology, 5th ed, p118)
HONselect - Tangier Disease
Translate this page Lipoprotein Deficiency Disease, HDL, Familial - tangier disease Neuropathy.Français, Tangier, maladie, - Hypoalphalipoprotéinémie
http://www.hon.ch/HONselect/RareDiseases/C10.668.829.800.875.html
Tangier Disease--a Diagnostic Challenge In Countries Endemic For Leprosy -- Sinh
A case of tangier disease (TD) is reported from India. tangier disease, firstdescribed by Fredrickson2 in 1961 is a rare inborn error of metabolism
http://jnnp.bmjjournals.com/cgi/content/full/75/2/301

Extractions: Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Sinha, S Articles by Shankar, S K Related Collections Other Neurology
Tangier Disease -- Kocen 75 (9): 1368 -- Journal Of Neurology, Neurosurgery, And
With reference to the article entitled tangier diseasea diagnostic Neuropathy in tangier disease. Alphalipoprotein deficiency manifesting as familial
http://jnnp.bmjjournals.com/cgi/content/full/75/9/1368

Extractions: Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Kocen, R S Journal of Neurology Neurosurgery and Psychiatry BMJ Publishing Group Ltd R S Kocen 127 Willifield Way, London NW11 6XY, UK diagnostic challenge in countries endemic for leprosy", I should like to point out that the name "Tangier disease" originates from a small island in Chesapeake Bay, USA and not from Morocco as stated by the authors. The first case of this uncommon disease with neurological involvement was reported by Kocen et al in the Lancet in 1967 and by Engel from the USA soon after. Detailed neuropathology on this condition
The Scientist :: The Race To Find The Tangier Disease Gene, Oct. 1, 2001
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 section.
http://www.the-scientist.com/2001/10/1/21/1
Tangier Disease,Alpha High-Density Lipoprotein Deficieny
tangier disease,Alpha HighDensity LipoproteinDeficieny,Alphalipoproteinemia,Analphalipoproteinemia,Familial Alpha-LipoproteinDeficiency,Familial
http://www.icomm.ca/geneinfo/tangier.htm
Proximal Sensory
Ana-lipoproteinemia (tangier disease) l ATP binding cassette transporter (ABC1) ;Chromosome 9q31; Codominant. Genetic
http://www.neuro.wustl.edu/neuromuscular/nanatomy/proxsens.html
Tangier Disease
tangier disease is a severe HDL deficiency syndrome characterized by accumulationof cholesterol in tissue macrophages and prevalent atherosclerosis.
http://www.humpath.com/article.php3?id_article=3061
TD ( Tangier Disease ) - General Practice Notebook
tangier disease (TD) was first discovered in 1961 in two siblings living onTangier Island. Features. autosomal codominant condition is characterized in
http://www.gpnotebook.co.uk/cache/-1791688650.htm
Tangier Disease - St. Joseph Mercy, Ann Arbor Michigan
tangier disease St. Joseph Mercy Health System Hospitals serving Ann Arbor, SEMichigan, Washtenaw County, Livingston County, Wayne County, Oakland County
http://www.sjmercyhealth.org/15760.cfm

Extractions: 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. 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. National Tay-Sachs and Allied Diseases Association, Inc.
Tangier Disease
tangier disease (TD) is a genetic disorder of cholesterol transport named forthe secluded island of Tangier, located off the coast of Virginia.
http://www.geocities.com/disabilitiesinaction/tangier.html

Extractions: 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 ABC1 (ATP-binding cassette) gene on chromosome 9q31. ABC1 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.
Lipids Online Slides: Tangier Disease, Apolipoprotein A-I, Cholesterol
Developed by Baylor College of Medicine, Lipids Online provides upto-dateresources for researchers, faculty, and clinicians in atherosclerosis and other
http://www.lipidsonline.org/slides/slide01.cfm?q=Tangier disease
April, 2001
tangier disease is a rare autosomal recessive disorder characterized by absence of The pathology of tangier disease. A light microscopic and electron
http://www.afip.org/Departments/Endocrine/Case/apr01/april2.html

Extractions: Tangier disease. Tangier disease is a rare autosomal recessive disorder characterized by absence of plasma high-density lipoproteins (HDL), cholesterol ester accumulation in macrophages, progressive neuropathy and atherosclerosis. Known by synonyms such as an-a-lipoproteinemia, a-High-Density Lipoprotein Deficiency, alphalipoproteinemia, and Familial Alpha-Lipoprotein Deficiency, Tangier disease is caused by a defect in chromosome 9q31 affecting the gene product ATP binding cassette transporter-1 (ABC-1). The ABC-1 protein controls a cellular pathway that secretes cholesterol and phospholipids to lipid-poor apolipoproteins. The inability of the apolipoproteins to acquire cellular lipids leads to their rapid degradation and an over-accumulation of cholesterol in macrophages. The disorder has been found among inhabitant of Tangier Island in Chesapeake Bay, most of whom are descendants of the first settlers of 1686. Other affected families have been found in Missouri, Kentucky, and Europe. Clinically, enlarged orange-yellow tonsils, hepatosplenomegaly, enlarged lymph nodes, and premature coronary artery disease with an increased risk of myocardial infarction characterize Tangier's disease. In fact, the combination of enlarged orange-yellow tonsils and low plasma cholesterol is considered pathognomonic of the disease. In addition, sensory neuropathy such as slowly progressive pain and temperature loss, facial diplegia, and muscle wasting of the hands are common. Patient's serum displays hypocholesterolemia, markedly reduced high-density lipoproteins, and high triglycerides. No specific treatment is available.
Tangier Disease
What is tangier disease and How is it Inherited? tangier disease is a autosomalreccessive disease caused by mutations in the genes of chromosome 9 that
http://sherinkalappurayil.tripod.com/id5.html

Extractions: Search: Lycos Tripod Star Wars Share This Page Report Abuse Edit your Site ... Next Chromosome Nine Home Nail-Patella Syndrome Tuberous Sclerosis Tangier Disease ... Bibliography Tangier Disease What is Tangier Disease and How is it Inherited? Tangier Disease is a autosomal reccessive disease caused by mutations in the genes of chromosome 9 that code for proteins that enable us to get rid of bad chloesterol. Because the allele for this disease is rare and because it is autosomal recessive, Tangier disease is very uncommon. It is a very rare disease with less than 50 victimsworldworld. Those victims are concentrated mostly in the small island of Tangier (hence the name). Cause of this Disease Signs and Symptoms yellowish orange, enlarged tonsils low concentration of high density lipoprotein (good cholesterol) High concentration of bad cholesterol in the organs Enlarged speen, liver, and lymph nodes.
Tangier Disease
Here GNN posts abstracts to articles about tangier disease related to the featurestory tangier disease (TD) is characterized by severe highdensity
http://www.genomenewsnetwork.org/articles/07_01/Tangier_lit.shtml

Extractions: Here GNN posts abstracts to articles about Tangier disease related to the feature story Trafficking in Cholesterol: Investigating the Human ABCA1 Gene Subpopulations of high density lipoproteins in homozygous and heterozygous Tangier disease. Atherosclerosis 2001 May;156(1):217-25. Expression of the ATP-binding cassette transporter gene ABCG1 (ABC8) in Tangier disease. Biochem Biophys Res Commun 2001 May 18;283(4):821-30. Novel polymorphisms in promoter region of atp binding cassette transporter gene and plasma lipids, severity, progression, and regression of coronary atherosclerosis and response to therapy. Circ Res 2001 May 11;88(9):969-73. Structure, function and regulation of the ABC1 gene product. Curr Opin Lipidol 2001 Apr;12(2):129-40. A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease. Atherosclerosis 2001 Feb 15;154(3):599-605. Cellular cholesterol efflux is modulated by phospholipid-derived signaling molecules in familial HDL deficiency/Tangier disease fibroblasts.
Hill Health Topics A-Z - Tangier Disease
tangier disease. National Organization for Rare Disorders. Important It is possiblethat the main title of the report tangier disease is not the name you
http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord385&SE
HUM-MOLGEN: The Inside Story Of Tangier Disease (The Scientist)
news section of the international communication forum in human genetics hummolgen.
http://hum-molgen.org/NewsGen/09-2001/msg31.html

Extractions: home genetic news bioinformatics biotechnology ... register for news alert 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 Message posted by: Anthony W.I. Lo
Tangier Disease Synonyms, Eastern Carolina
tangier disease Synonyms University Health Systems of Eastern Carolina servestarboro, ahoskie, edento, winsor, maxhead, dear county, outebanks counties
http://www.uhseast.com/114371.cfm

Extractions: 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. 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. National Tay-Sachs and Allied Diseases Association, Inc.
Alphabetic List, Diseases And Disorders
Aalphalipoprotein Neuropathy (see tangier disease) Abdominal Cramps (see Colic) alpha-Lipoprotein Deficiency Disease, Familial (see tangier disease)
http://www.mic.ki.se/Diseases/alphalist.html
Tangier Disease
Information About tangier disease. In the following paragraphs you will have the Once submitted and approved, your article about tangier disease will be
http://www.zip2.us/disease/tangier_disease.html

Extractions: http://www.ncbi.nlm.nih.gov/disease/tang... At present, Diseases has no posted articles pertaining to the subject of tangier disease. However, if you run an online enterprise covering the subject of tangier disease, we would be pleased to include a self-written article that covers tangier disease or any other subject covered on this site. Once submitted and approved, your article about tangier disease will be linked to this webpage. To learn more about how you could gain free publicity for your web business by writing an article about tangier disease, please click here One possible way to find a specific company on the Internet in your search for tangier disease is go to Google.com's home page, type in the name of the company you feel will offer info about tangier disease, and click on the "I'm Feeling Lucky" button. This doesn't always produce the desired results, but most of the time it will take you to the company's home page, where hopefully you will find the information about tangier disease you are looking for online.

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