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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
tangier disease.
http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord385
Tangier Disease
tangier disease. tangier disease (TD) is a genetic disorder of cholesterol transport named for the secluded island of Tangier, located
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.
Tangier Disease
tangier disease. July 9, 2001. Here Subpopulations of high density lipoproteins in homozygous and heterozygous tangier disease. Tangier
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.
Health Library -
tangier disease. Important It is possible that the main title of the report tangier disease is not the name you expected. Please
http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw
TD ( Tangier Disease ) - General Practice Notebook
TD ( tangier disease ). tangier disease (TD) was first discovered in 1961 in two siblings living on Tangier Island. Features autosomal
http://www.gpnotebook.co.uk/cache/-1791688650.htm
TD ( Tangier Disease ) - General Practice Notebook
TD ( tangier disease ). Medical search. tangier disease (TD) was first discovered in 1961 in two siblings living on Tangier Island. Features
http://www.gpnotebook.co.uk/medwebpage.cfm?ID=-1791688650
Entrez PubMed
Comment in Nat Genet. 1999 Aug;22(4)3168. Click here to read Mutations in ABC1 in tangier disease and familial high-density lipoprotein deficiency.
http://www.biomedcentral.com/pubmed/10431236

Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order
Entrez PubMed
HDL deficiency and atherosclerosis lessons from tangier disease. Male; Middle Aged; tangier disease/complications*; tangier disease/genetics. Substances
http://www.biomedcentral.com/pubmed/14746569

Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order
ORPHANET - Rare Diseases - Orphan Drugs
DISEASE tangier disease, tangier disease is recessively inherited, which means that both parental chromosomes should carry a mutation of the ABC1 gene.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=31150
ORPHANET® Tangier Disease
tangier disease. tangier disease is recessively inherited, which means that both parental chromosomes should carry a mutation of the ABC1 gene.
http://www.orpha.net/static/GB/tangierdisease.html
Health Library -
prevention. tangier disease. Synonyms Disorder Subdivisions General Discussion Resources National Organization for Rare Disorders.
http://12.42.224.152/Library/HealthGuide/IllnessConditions/topic.asp?hwid=nord38
Tangier Disease
tangier disease. Printable version. References. Oram JF. Molecular basis of cholesterol homeostasis lessons from tangier disease and ABCA1. Trends Mol Med.
http://www.humpath.com/article.php3?id_article=3061
NEJM -- Tangier Disease: One Explanation Of Lipid Storage
Original Article from The New England Journal of Medicine tangier disease one explanation of lipid storage.
http://content.nejm.org/cgi/content/abstract/299/10/519

Extractions: Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation Abstract Normal high-density lipoproteins are absent from plasma in Tangier disease, and the disorder is characterized by accumulation of cholesteryl esters in several tissues, particularly those of the reticuloendothelial system. Electron microscopy of the abnormal high-density lipoproteins in the plasma of three patients with Tangier diseases revealed large (68-nm), flattened, translucent particles in all cases. These particles were most abundant in the plasma of the splenectomized patient. Restriction of dietary fat eliminated or drastically reduced the numbers of these particles among the Tangier high-density lipoproteins. Thus abnormal products of chylomicron metabolism that appear to occur in plasma in this disorder may be targets for phagocytosis and may be at least one source of the cholesteryl esters that accumulate in reticuloendothelial tissues in Tangier disease.
NEJM -- Metabolism Of High-density Lipoprotein Apolipoproteins In Tangier Diseas
Original Article from The New England Journal of Medicine Metabolism of highdensity lipoprotein apolipoproteins in tangier disease.
http://content.nejm.org/cgi/content/abstract/299/17/905

Extractions: Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation Abstract To define the metabolic defect in Tangier disease, we studied the kinetics of [125I]-high-density lipoprotein apolipoproteins (apolipoproteins A-I and A-II) in 11 normal subjects, two obligate heterozygotes, and two homozygotes. Mean synthesis of apolipoproteins A-1 and A-11 was 8.24 mg per kilogram per day in the normal group, 7.94 in heterozygotes and 3.66 in homozygotes. The mean plasma-residence time for both apolipoproteins was 5.21 days in the normal subjects, 3.41 days in heterozygotes, and 0.52 days in homozygotes. In normal subjects and heterozygotes the apolipoproteins were catabolized at similar rates, whereas in homozygotes apolipoprotein A-I was catabolized at a much greater fractional rate than apolipoprotein A-II. These findings indicate that the deficiency of these apolipoproteins in Tangier disease is largely due to rapid and altered catabolism. This article has been cited by other articles: Selva, D. M., Hirsch-Reinshagen, V., Burgess, B., Zhou, S., Chan, J., McIsaac, S., Hayden, M. R., Hammond, G. L., Vogl, A. W., Wellington, C. L. (2004). The ATP-binding cassette transporter 1 mediates lipid efflux from Sertoli cells and influences male fertility.
PharmGKB: Tangier Disease
tangier disease. Alternate Names A alphalipoprotein Neuropathy; Aalphalipoprotein Neuropathies; A-alphalipoprotein Neuropathy; Analphalipoproteinemia
http://www.pharmgkb.org/do/serve?objId=PA445812&objCls=Disease
Penn State Faculty Research Expertise Database (FRED)
, Lipoprotein Deficiency Disease, HDL, Familial, tangier disease Neuropathy. alphaFaculty Research Expertise Database. tangier disease.
http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D013631
DISEASE: Tangier Disease
tangier disease Evaluation at the NIH patientrecruitment.nhlbi.nih.gov The National Heart, Lung and Blood Institute is actively seeking patients with tangier
http://disease.bigtome.com/big/page/Tangier_Disease
Disease Directory : Tangier Disease
An explanation of this disease and its name, its causes and treatment. Date Directory Listing. Title tangier disease
http://www.diseasedirectory.net/detailed/7233.aspx
Disease Directory : Tangier Disease By Jackie Newman
Diseases Nutrition and Metabolism Disorders Cholesterol and Other Fats TaySachs tangier disease by Jackie Newman. Directory Listing.
http://www.diseasedirectory.net/detailed/7234.aspx
Assignment Of Tangier Disease To Chromosome 9q31 By A Graphical
Assignment of tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy Homozygous tangier disease and cardiovascular disease.
http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v20/n1/full/ng0998_9

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