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Tangier disease information


Tangier disease
Other namesFamilial alpha-lipoprotein deficiency[1]: 535 
SpecialtyEndocrinology Edit this on Wikidata

Tangier disease or hypoalphalipoproteinemia is an extremely rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein (HDL), often referred to as "good cholesterol", in the bloodstream.[2] Worldwide, approximately 100 cases have even been identified.[3][4]

The disorder was originally discovered on Tangier Island off the coast of Virginia, but has now been identified in people from many countries.

  1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
  2. ^ Rust S, Rosier M, Funke H, et al. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet 1999; 22:352.
  3. ^ Orphanet. "Tangier disease". www.orpha.net. Retrieved 2018-12-22.
  4. ^ Genetics Home Reference. "Tangier disease". National Institute of Health. Retrieved 2018-12-22.

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Tangier disease

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Tangier disease or hypoalphalipoproteinemia is an extremely rare inherited disorder characterized by a severe reduction in the amount of high density...

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Cardiolipin

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content of cardiolipins is strongly increased. Tangier disease is also linked to CL abnormalities. Tangier disease is characterized by very low blood plasma...

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ABCA1

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discovered that a mutation in the ABCA1 protein is responsible for causing Tangier disease by several groups in 1998. Gerd Schmitz's group in Germany and Michael...

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Dyslipidemia

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atherosclerotic cardiovascular diseases (ASCVD), which include coronary artery disease, cerebrovascular disease, and peripheral artery disease. Although dyslipidemia...

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Splenomegaly

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It is therefore not surprising that splenomegaly is associated with any disease process that involves abnormal red blood cells being destroyed in the spleen...

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List of skin conditions

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protoporphyria Fabry disease (Anderson–Fabry disease, angiokeratoma corporis diffusum) Familial alpha-lipoprotein deficiency (Tangier disease) Familial amyloid...

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Surgical sieve

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rheumatoid arthritis, SLE Metabolic: Gaucher's disease, mucopolysaccharidoses, amyloidosis, Tangier disease Inflammatory: sarcoidosis Neoplastic: CML, metastases...

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Dissociated sensory loss

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syndrome aka Wallenberg's syndrome Anterior spinal artery thrombosis Tangier disease Subacute combined degeneration Multiple sclerosis Tabes dorsalis Friedreich's...

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Cotransporter

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the iodide. NIS activity helps in the diagnosis and treatment of thyroid disease, including the highly successful treatment of thyroid cancer with radioiodide...

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Inborn error of lipid metabolism

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transfer flavoprotein (ETF) dehydrogenase deficiency (GAII & MADD) Tangier disease Acute fatty liver of pregnancy Fatty acid synthase Essential fatty...

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List of genetic disorders

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type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the...

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ABC transporter

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include Mendelian diseases and complex genetic disorders such as cystic fibrosis, adrenoleukodystrophy, Stargardt disease, Tangier disease, immune deficiencies...

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Apolipoprotein D

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modulated in several pathologies such as HDL familial deficiency, Tangier disease, LCAT familial deficit and type 2 diabetes. It is overexpressed in...

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Apolipoprotein AI

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including Tangier disease, and with systemic non-neuropathic amyloidosis. Apo-AI is often used as a biomarker for prediction of cardiovascular diseases. The...

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Chromosome 9

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nonsyndromic deafness OCD polycythemia vera porphyria primary hyperoxaluria Tangier disease tetrasomy 9p thrombotic thrombocytopenic purpura trisomy 9 tuberous...

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Hypoalphalipoproteinemia

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Name OMIM Locus Candidates HDLCQ1 606613 9p ABCA1 (Tangier disease) HDLCQ2 607053 8q23 HDLCQ3 607687 16q24.1 Lecithin cholesterol acyltransferase deficiency...

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ABCG1

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"Expression of the ATP-binding cassette transporter gene ABCG1 (ABC8) in Tangier disease". Biochemical and Biophysical Research Communications. 283 (4): 821–30...

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Liver X receptor

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involved in cholesterol homeostasis like ABCA1 which is defective in Tangier disease. A common feature of many metabolic pathways is their control by retinoid...

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Tangerine

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native of Tangier, a seaport in Morocco, on the Strait of Gibraltar" and "a native of Tangier." The name was first used for fruit coming from Tangier, Morocco...

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List of OMIM disorder codes

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186000; HOXD13 Tangier disease; 205400; ABCA1 TARP syndrome; 311900; RBM10 Tarsal-carpal coalition syndrome; 186570; NOG Tay–Sachs disease; 272800; HEXA...

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Tangier Garrison

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The Tangier Garrison was the land force which oversaw the defence of English Tangier between 1661 and 1684 when it was evacuated. It was part of the English...

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