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

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
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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.

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
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.

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
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National Organization for Rare Disorders, Inc.
Tangier Disease
Important
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.
Synonyms
  • Alpha High-Density Lipoprotein Deficieny Alphalipoproteinemia Analphalipoproteinemia Familial Alpha-Lipoprotein Deficiency Familial High-Density Lipoprotein Deficiency
Disorder Subdivisions
  • None
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
  • Acanthocytosis
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.
Symptoms
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
Tangier Disease
Disease Type: Genetic
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
The Scientist 15[19]:21, Oct. 1, 2001
HOT PAPER
The Race to Find the Tangier Disease Gene
Rare disorder sheds some light on a common killer: coronary artery disease
E-mail
article
By Brendan A. Maher
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.
Nature Genetics , 22; 347-351, August 1999. (Cited in 198 papers)
Nature Genetics , 22; 352-355, August 1999. (Cited in 193 papers)
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
TEKTRAN
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
GOLDKAMP ALLISON L
SCHAEFER ERNST J
FREEMAN MASON W
Interpretive Summary:
Keywords:
lipoproteins nutrition aging coronary heart disease genetics regulation atherosclerosis
Contact:
JEAN MAYER HUMAN NUTR. RE 711 WASHINGTON ST., TUFTS BOSTON MA 02111 FAX: (617)556-3103 Email: mbrousseau@hnrc.tufts.edu
Approved Date: TEKTRAN United States Department of Agriculture Agricultural Research Service Updated:

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

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Related Topics: Neurological Disorders/Muscle Diseases Rare Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "tangier disease" Health News: Search millions of published articles for news on Tangier Disease Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: 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, characteristics of the disease and the treatments. Notes: Healthcyclopedia presents health information in the form of websites and articles that encompass conventional medicine and alternative treatments Under no circumstances can it recommend or endorse a specific drug or therapy or treatment.

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

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Gurus ... cholesterol and other fats > tangier
Tangier Disease
Information / Diagnosis / Treatment / Prevention
  • External links (marked with an arrow ) open in a new window.
  • This site is a web directory and does not offer medical advice.
  • We cannot take responsibility for information found on listed sites.
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Related Topics

Medical Definition

Health News

Web Directory:

Related Topics: Neurological Disorders/Muscle Diseases Rare Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "tangier disease" Health News: Search millions of published articles for news on Tangier Disease Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: 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, characteristics of the disease and the treatments. Notes: Healthcyclopedia presents health information in the form of websites and articles that encompass conventional medicine and alternative treatments Under no circumstances can it recommend or endorse a specific drug or therapy or treatment.

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

Front
Search Index Links ... Patient Info
Sensory involvement: Proximal

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
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You are in Medical Library Choose a Topic 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.

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
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  • NCBI Genes and Disease - Tangier Disease
    Presents a discussion about this disorder of cholesterol transport. Relays the first case identified, the causes, and the discovery of a cholesterol transport gene.
    Tangier Disease

    Jackie Newman authored an article about this very rare autosomal recessive metabolic disorder. Offered are the statistics, the characteristics, and gene therapy.
  • We're always looking for ways to improve your search experience. Tell us how we're doing. Join the Zeal community and help build the "Tangier Disease" Directory Category
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    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
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    Tangier Disease
    Tangier Disease Genes and disease provides short descriptions of inherited disorders. It is hosted by the ... Lung and Blood Institute, NIH cardiovascular information TANGIER DISEASE (TD) is a genetic disorder of ...
    Tangier Disease Tangier Disease Disease Type: Genetic Disease Sub-Type: Chromosome 9 Pathology In Tangier disease exact link between the underlying cause ... the genetic defect in the original Tangier disease kindred. Proc. Nat. Acad. Sci. USA ...
    Tangier Disease Jackie Newman authored an article about this very rare autosomal recessive metabolic disorder. Offered are the statistics, the characteristics, and gene therapy.
    HONselect - 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
    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 - HYPOALPHALIPOPROTEINEMIE Deutsch: Tangier-Krankheit - Lipoproteine, HDL- - Retinitis pigmentosa - A-Alphalipoprotein-Neuropathie - Alpha-Lipoprotein-Mangelkrankheit, familiäre - Analphaliproteinämie - Familiäre HDL-Mangelkrankheit Español: ENFERMEDAD DE TANGIER - NEUROPATIA POR A-ALFALIPOPROTEINA - ENFERMEDAD POR DEFICIENCIA DE LIPOPROTEINA ALFA FAMILIAR - ANALFALIPOPROTEINEMIA - ENFERMEDAD POR DEFICIENCIA DE LIPOPROTEINA DE ALTA DENSIDAD FAMILIAR - HIPOALFALIPOPROTEINEMIA FAMILIAR - ENFERMEDAD POR DEFICIENCIA DE LIPOPROTEINA HDL FAMILIAR Português: DOENCA DE TANGIER - NEUROPATIA ALFALIPOPROTEINA-A - DOENCA DA DEFICIENCIA DE ALFA-LIPOPROTEINA FAMILIAR - ANALFALIPOPROTEINEMIA - DOENCA DA DEFICIENCIA DE LIPOPROTEINAS DE ALTA DENSIDADE FAMILIAR - HIPOALFALIPOPROTEINEMIA FAMILIAR - DOENCA DA DEFICIENCIA DE LIPOPROTEINA HDL FAMILIAR 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 Feedback ... HONewsletter 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/
    List of rare diseases: English Deutsch Acrocephalosyndactylia
    Acrodermatitis
    ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/index.html Last modified: Wed Apr 28 2004

    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
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    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
    Tangier disease
    Medical Family - medicine for the family
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    Tangier disease
    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
    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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    DISORDERS GLOSSARY Alphaliproteinemia
    also known as:
    Tangier's Disease
    Alphalipoprotein Deficiency
    Analphalipoproteinemia
    Alpha High-Density Lipoprotein Deficieny
    Familial Alpha-Lipoprotein Deficiency Familial High-Density Lipoprotein Deficiency (as defined by the National Organization for Rare Disorders
    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.

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