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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 (Jiménez Díaz memorial lecture) by Donald S Fredrickson, 1976

lists with details

1. Tangier Disease
   tangier disease (TD) is a genetic disorder of cholesterol transport named for the secluded island of Tangier, located off the coast of Virginia.  
   http://www.ncbi.nlm.nih.gov/disease/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 (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 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
   
   Extractions: 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.

3. Tangier Disease
   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  
   http://www.bchealthguide.org/kbase/nord/nord385.htm
   
   Extractions: It is possible that the main title of the report 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. Information on the following diseases can be found in the Related Disorders section of 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. Tangier Disease is a slowly progressive disorder initially characterized by enlarged orange or yellowish-gray tonsils. This same discoloration may be found in other parts of the throat and/or rectum. In time, the liver, spleen and lymph nodes may become enlarged. Brain dysfunction, loss of tendon reflexes and coronary artery disease may also occur. In some cases, small solid elevated skin lesions (papules) may appear.

4. Tangier Disease
   tangier disease. Pathology. 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
   
   Extractions: 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
   Oct. 1, 2001 Rare disorder sheds some light on a common killer coronary artery disease binding cassette transporter 1 is mutated in tangier disease " Nature Genetics, 22; 347-351, August 1999  
   http://www.the-scientist.com/yr2001/oct/hot_011001.html
   
   Extractions: 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. 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. CELLULAR CHOLESTEROL EFFLUX IN HETEROZYGOTES FOR TANGIER DISEASE IS MARKEDLY RED
   CELLULAR CHOLESTEROL EFFLUX IN HETEROZYGOTES FOR tangier disease IS MARKEDLY REDUCED AND CORRELATES WITH HIGH DENSITY LIPOPROTEIN CHOLESTEROL AND SIZE. Author(s) BROUSSEAU MARGARET E. EBERHART GRETCHEN P. DUPUIS JOSEE. ASZTALOS BELA looking for the cause of tangier disease (TD), a very rare genetic  
   http://www.nal.usda.gov/ttic/tektran/data/000011/16/0000111687.html

7. NORD - National Organization For Rare Disorders, Inc.
   General Discussion. tangier disease is an inherited blood disorder involving decreased Organizations related to tangier disease. NIH/NINDS Brain Resources and Information  
   http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tangier Disea

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

9. Tangier Disease - Information / Diagnosis / Treatment / Prevention
   Web Directory ? tangier disease An explanation of this disease and its name, its causes and treatment. ? tangier disease by  
   http://www.healthcyclopedia.com/nutrition-and-metabolism-disorders/cholesterol-a

10. Tangier Disease - Information / Diagnosis / Treatment / Prevention
    tangier disease An explanation of this disease and its name, its causes and treatment. . tangier disease by Jackie Newman An article about this rare disease, its history  
    http://www.healthcyclopedia.com/tangier_disease.html

11. 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

12. Cholesterol Efflux Regulatory Protein, Tangier Disease And Familial
    Cholesterol efflux regulatory protein, tangier disease and familialhighdensity lipoprotein deficiencyMichael R. Haydena, Susanne M. Cleea, Angela Brooks-Wilsona e, Jacques Genest Jrb, Alan Attiecand  
    http://www.sci.sdsu.edu/classes/biology/bio575/Week12.ABCA1.PDF

13. Tangier Disease
    tangier disease Important It is possible that the main title of the report tangier disease is not the name you expected. Please  
    http://my.webmd.com/hw/health_guide_atoz/nord385.asp
    
    Extractions: 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.

14. LookSmart - Directory - Tangier Disease
    Metabolic tangier disease. tangier disease General information, overviews, organizations, and support groups for tangier disease.  
    http://search.looksmart.com/p/browse/us1/us317837/us317920/us53948/us330917/us10

15. Tangier Disease
    tangier disease. tangier disease Genes and disease provides short descriptions of inherited disorders. It is hosted by the HONselect - tangier disease.  
    http://www.health-nexus.com/tangier_disease.htm
    
    Extractions: Health-Nexus.Net Health-Nexus.Org The #1 Health information site Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Tangier Disease Tangier Disease ... Organization for Rare Disorders, Inc. Tangier Disease Important It is possible that ... Acanthocytosis General Discussion Tangier Disease is an inherited blood disorder ... circulation problems.Symptoms Tangier Disease is a slowly progressive disorder ...

16. 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

17. HON - List Of Rare Diseases
    Sweet s Syndrome. Takayasu s Arteritis, tangier disease. TaySachs Disease, Thromboangiitis Obliterans. Thyroiditis, Autoimmune, Tietze s Syndrome.  
    http://www.hon.ch/HONselect/RareDiseases/

18. Tangier Disease :: Med Family :: Medicine For The Family
    RELATED LINKS. tangier disease tangier disease (TD) is a tangier disease Login/Create an account 0 Comments. Threshold 1  
    http://www.medfamily.org/medArticle165.html

19. Tangier Disease | Med Family | Print Page
    tangier disease. Medical Family medicine for the family. Rare Diseases / Genetic and Evolution . tangier disease. tangier disease  
    http://www.medfamily.org/Print_medArticle165.html
    
    Extractions: [ Rare Diseases / Genetic and Evolution ] Tangier disease 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.

20. Tangier Disease,Alpha High-Density Lipoprotein Deficieny,Alphalipoproteinemia,An
    tangier disease,Alpha HighDensity Lipoprotein Deficieny,Alphalipoproteinemia,Analphalipoproteinemia,Familial Alpha-Lipoprotein Deficiency,Familial High  
    http://www.icomm.ca/geneinfo/tangier.htm
    
    Extractions: Tangier Disease,Alpha High-Density Lipoprotein Deficieny,Alphalipoproteinemia,Analphalipoproteinemia,Familial Alpha-Lipoprotein Deficiency,Familial High-Density Lipoprotein Deficiency,Tangier Disease,Alpha High-Density Lipoprotein Deficieny,Alphalipoproteinemia,Analphalipoproteinemia,Familial Alpha-Lipoprotein Deficiency,Familial High-Density Lipoprotein Deficiency

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