21. 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

InitBulle("navy","#F8F8F8","#000066",1); HONcode sites All Web sites HONselect News ... Images HONselect Search English French German Spanish Portuguese the word the part of word in MeSH term in MeSH term and description Information on "Tangier Disease": Medical hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials Hierarchy English French German Spanish Portuguese 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)

22. 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

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 - Hypoalphalipoprotéinémie Deutsch: Tangier-Krankheit - Alpha-Lipoprotein-Mangelkrankheit, familiäre - Alpha-Liproproteinmangel, familiärer - Analphaliproteinämie - Familiäre HDL-Mangelkrankheit - Hypoalphalipoproteinämie, familiäre - Lipoproteinmangel, HDL, familiäre Español: Enfermedad de Tangier - Analfalipoproteinemia - Enfermedad por Deficiencia de Lipoproteína HDL Familiar - Enfermedad por Deficiencia de Lipoproteína alfa Familiar - Enfermedad por Deficiencia de Lipoproteína de Alta Densidad Familiar - Hipoalfalipoproteinemia Familiar - Neuropatía por A-alfalipoproteína Português: Doença de Tangier - Analfalipoproteinemia - Doença da Deficiência de Lipoproteína HDL Familiar - Doença da Deficiência de Lipoproteínas de Alta Densidade Familiar - Doença da Deficiência de alfa-Lipoproteína Familiar - Hipoalfalipoproteinemia Familiar - Neuropatia da Doença de Tangier HONselect ressources Definition: Yes Articles: Yes Images: Yes News: No Conferences: No Clinical trials: No Web sites: English Yes Français Yes Deutsch No Español No Português No Home About us Site map Search ... Contact http://www.hon.ch/HONselect/RareDiseases/C10.668.829.800.875.html

23. 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

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) 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 Medicine in Developing Countries Journal of Neurology Neurosurgery and Psychiatry BMJ Publishing Group Ltd SHORT REPORT S Sinha A Mahadevan L Lokesh V Ashraf B K Chandrasekhar Sagar A B Taly and S K Shankar Department of Neurology, NIMHANS, Bangalore, India Department of Neuropathology, NIMHANS, Bangalore, India Correspondence to: Professor A B Taly Received 7 July 2003 Accepted 21 July 2003 ABSTRACT A case of Tangier disease (TD) is reported from India. The patient

24. Tangier Disease -- Kocen 75 (9): 1368 -- Journal Of Neurology, Neurosurgery, And With reference to the article entitled tangier disease—a diagnostic Neuropathy in tangier disease. Alphalipoprotein deficiency manifesting as familial http://jnnp.bmjjournals.com/cgi/content/full/75/9/1368

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) 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 CORRESPONDENCE Tangier disease 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

25. 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

Please login or register DAILY E-MAIL RSS HANDHELD CURRENT ISSUE DAILY NEWS UPFRONT FEATURE ... return to webpage 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. Gain access to our rich archive containing 17+ years of The Scientist exclusive online-only content, and detailed survey results. Back to top The Scientist support@the-scientist.com

26. 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

27. 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

Front Search Index Links ... Patient Info Sensory involvement: Proximal Neuronopathies Paraneoplastic (anti-Hu) Autoimmune: Sjogren's Hereditary Toxic Pyridoxine intoxication cis-platinum Hereditary neuropathy 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 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

28. 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

29. 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

TD ( Tangier disease ) Tangier disease (TD) was first discovered in 1961 in two siblings living on Tangier Island. Features: autosomal co-dominant condition is characterized in the homozygous state by the absence of HDL-cholesterol (HDL-C) from plasma, hepatosplenomegaly, peripheral neuropathy, a syringomyelia-like syndrome in the presence of lymphadenopathy, and frequently premature coronary artery disease (CAD) heterozygotes, HDL-C levels are about one-half those of normal individuals. It is the impaired cholesterol efflux from macrophages leads to the presence of foam cells throughout the body, which may explain the increased risk of coronary heart disease in some TD families. Also the accumulation of cholesteryl esters in macrophages, causes enlargement of the liver, spleen and tonsils. Experimental evidence suggests that defects in human ATP cassette-binding transporter 1 (ABC1), encoding a member of the ABC transporter superfamily, are the cause of TD. This is a cell-membrane protein that mediates the secretion of excess cholesterol from cells into the HDL metabolic pathway Click here for more information...

30. 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

@import url(default.css); Online Health Information Health Information - Rare Diseases and Disorders Back to Health Library Print This Page Email to a Friend National Organization for Rare Disorders, Inc. Tangier Disease Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report 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.

31. 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

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.

32. 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

33. 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

April, 2001 Diagnosis Tangier disease. Discussion 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.

34. 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

setAdGroup('67.18.104.18'); var cm_role = "live" var cm_host = "tripod.lycos.com" var cm_taxid = "/memberembedded" 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.

35. 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

Home About Topics Tangier disease July 9, 2001 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.

36. 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

37. 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

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 Message posted by: Anthony W.I. Lo Generated by News Editor 2.0 by Kai Garlipp WWW: Kai Garlipp Frank S. Zollmann HUM-MOLGEN

38. 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

Health News Health Library Health Topics Healthy Living ... Nutrition Information on diseases and health concerns, including symptoms, treatment options, and prevention. Tangier Disease Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report 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.

39. 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

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Alphabetic List of Specific Diseases/Disorders Start Page A B C ... Z A A-alphalipoprotein Neuropathy (see Tangier Disease) Abdominal Cramps (see Colic) Abdominal Delivery (see Cesarean Section) Abdominal Injuries Abnormalities Abortion, Induced Abortion, Spontaneous ... Abscess, Amebic (see Amebiasis) Abscess, Retropharyngeal (see Retropharyngeal Abscess) Acantholysis Bullosa (see Epidermolysis Bullosa) Acariasis (see Mite Infestations) Achalasia, Esophageal (see Esophageal Achalasia) Achondroplasia Achromatopsia (see Color Vision Defects) Acid-Base Imbalance Acidosis Acidosis, Diabetic (see Diabetic Ketoacidosis) Acne (see Acne Vulgaris) Acne Vulgaris Acoustic Neuroma (see Neuroma, Acoustic) Acquired Childhoood Aphasia with Convulsive Disorder (see Landau-Kleffner Syndrome) Acquired Facial Neuropathy (see Facial Nerve Diseases) Acquired Hyperostosis Syndrome Acquired Immunodeficiency Syndrome Acrocephalosyndactylia Acrocephaly (see Craniosynostoses) Acrodysplasia V (see Langer-Giedion Syndrome) Acromegaly Actinic Reticuloid Syndrome (see Photosensitivity Disorders) Actinomyces Infections (see Actinomycosis) Actinomycosis Action Tremor (see Tremor) Acupuncture Therapy Acute Autoimmune Neuropathy (see Guillain-Barre Syndrome) Acute Confusional Migraine (see Migraine) Acute Confusional Senile Dementia (see Alzheimer Disease) Acute Inflammatory Demyelinating Polyradiculoneuropathy (see Guillain-Barre Syndrome) Acute Inflammatory Polyneuropathy (see Guillain-Barre Syndrome)

40. 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

Home Disease / Tangier Disease Information About Tangier Disease In the following paragraphs you will have the opportunity to peruse listings of web sites focused on tangier disease, remarkable articles relevant to tangier disease and search tips to help you in finding tangier disease information online. Tangier Disease Related Sites Tangier Disease http://www.ncbi.nlm.nih.gov/disease/tang... Post Your Article About Tangier Disease 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 Search Tips For Tangier Disease 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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