III型高リポ蛋白血症、3型高リポ蛋白血症
- 関
- hyperlipoproteinemia type III
WordNet
- write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
- a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
- (biology) the taxonomic group whose characteristics are used to define the next higher taxon
- a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
- all of the tokens of the same symbol; "the word `element contains five different types of character"
- printed characters; "small type is hard to read"
- identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
- the 9th letter of the Roman alphabet (同)i
- any of various disorders of lipoprotein and cholesterol metabolism that result in high levels of lipoprotein and cholesterol in the circulating blood
- writing done with a typewriter (同)typewriting
PrepTutorEJDIC
- 〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ
- 『私は』私が
- iodineの化学記号
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2013/12/29 05:49:22」(JST)
[Wiki en表示]
Familial dysbetalipoproteinemia |
Classification and external resources |
Familial dysbetalipoproteinemia is caused by this point mutation in ApoE
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OMIM |
107741 |
MedlinePlus |
000402 |
Familial dysbetalipoproteinemia or type III hyperlipoproteinemia (also known as "remnant hyperlipidemia", "remnant hyperlipoproteinaemia", "broad beta disease"[1] and "remnant removal disease"[1]) is a condition characterized by increased LDL, cholesterol, and triglyceride levels, and decreased HDL levels.[2]:534
Contents
- 1 Signs and symptoms
- 2 Causes
- 3 See also
- 4 References
Signs and symptoms[edit]
Signs of familial dysbetaproteinemia include xanthoma striatum palmare (orange or yellow discoloration of the palms) and tuberoeruptive xanthomas over the elbows and knees. The disease leads to premature atherosclerosis and therefore a possible early onset of coronary artery disease and peripheral vascular disease leading to a heart attack, i.e. myocardial infarction, chest pain on exercise, i.e. angina pectoris or stroke in young adults or middle aged patients.[3]
Causes[edit]
This condition is caused by a mutation in apolipoprotein E (ApoE), that serves as a ligand for the liver receptors for chylomicrons, IDL and VLDL or Very Low Density lipoprotein receptors. The normal ApoE turns into the defective ApoE2 form due to a genetic mutation.[4] This defect prevents the normal metabolism of chylomicrons, IDL and VLDL, otherwise know as remnants, and therefore leads to accumulation of their content - triglycerides and cholesterol, especially in the form of LDL.
See also[edit]
- Primary hyperlipoproteinemia
- Apolipoprotein B deficiency
- List of cutaneous conditions
References[edit]
- ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
- ^ Genest J, Libby P. Lipoprotein disorders and cardiovascular disease. In: Bonow RO, Mann DL, Zipes DP, Libby P, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 9th ed. Philadelphia, PA:Saunders Elsevier; 2011:chap 47.
- ^ http://ghr.nlm.nih.gov/gene/APOE
Inborn error of lipid metabolism: dyslipidemia (E78, 272.0–272.6)
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Hyperlipidemia |
- Hypercholesterolemia/Hypertriglyceridemia
- Lipoprotein lipase deficiency/Type Ia
- Familial apoprotein CII deficiency/Type Ib
- Familial hypercholesterolemia/Type IIa
- Combined hyperlipidemia/Type IIb
- Familial dysbetalipoproteinemia/Type III
- Familial hypertriglyceridemia/Type IV
- Xanthoma/Xanthomatosis
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Hypolipoproteinemia |
Hypoalphalipoproteinemia/HDL
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- Lecithin cholesterol acyltransferase deficiency
- Tangier disease
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Hypobetalipoproteinemia/LDL
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- Abetalipoproteinemia
- Apolipoprotein B deficiency
- Chylomicron retention disease
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Lipodystrophy |
- Barraquer–Simons syndrome
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Other |
- Lipomatosis
- Adiposis dolorosa
- Lipoid proteinosis
- APOA1 familial renal amyloidosis
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mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m
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k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon
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m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
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UpToDate Contents
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English Journal
- Molecular mechanisms responsible for the differential effects of apoE3 and apoE4 on plasma lipoprotein-cholesterol levels.
- Li H, Dhanasekaran P, Alexander ET, Rader DJ, Phillips MC, Lund-Katz S.SourceInstitute for Translational Medicine and Therapeutics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
- Arteriosclerosis, thrombosis, and vascular biology.Arterioscler Thromb Vasc Biol.2013 Apr;33(4):687-93. doi: 10.1161/ATVBAHA.112.301193. Epub 2013 Feb 14.
- OBJECTIVE: The goal of this study was to understand the molecular basis of how the amino acid substitution C112R that distinguishes human apolipoprotein (apo) E4 from apoE3 causes the more proatherogenic plasma lipoprotein-cholesterol distribution that is known to be associated with the expression o
- PMID 23413428
- Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study.
- Cuchel M, Meagher EA, du Toit Theron H, Blom DJ, Marais AD, Hegele RA, Averna MR, Sirtori CR, Shah PK, Gaudet D, Stefanutti C, Vigna GB, Du Plessis AM, Propert KJ, Sasiela WJ, Bloedon LT, Rader DJ; Phase 3 HoFH Lomitapide Study investigators.Collaborators (24)Cuchel M, Meagher EA, Kolansky DM, Sachais BS, Shah PK, Blom DJ, Marais AD, Theron Hdu T, du Plessis AM, Gaudet D, Hegele RA, Cefalù AB, Noto D, Averna MR, Sirtori CR, Bondioli A, Triolo M, Mombelli G, Vigna GB, Lodi E, Menegatti E, Tosini E, Stefanutti C, Di Giacomo S.
- Lancet.Lancet.2013 Jan 5;381(9860):40-6. doi: 10.1016/S0140-6736(12)61731-0. Epub 2012 Nov 2.
- BACKGROUND: Patients with homozygous familial hypercholesterolaemia respond inadequately to existing drugs. We aimed to assess the efficacy and safety of the microsomal triglyceride transfer protein inhibitor lomitapide in adults with this disease.METHODS: We did a single-arm, open-label, phase 3 st
- PMID 23122768
- Severe insulin resistance and hypertriglyceridemia after childhood total body irradiation.
- Mayson SE, Parker VE, Schutta MH, Semple RK, Rickels MR.SourceDepartment of Medicine, Division of Endocrinology, Diabetes and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. sarah.mayson@uphs.upenn.edu
- Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.Endocr Pract.2013 Jan-Feb;19(1):51-8. doi: 10.4158/EP12115.OR.
- OBJECTIVE: To characterize the metabolic phenotype of 2 cases of normal weight young women who developed type 2 diabetes (T2D), severe insulin resistance (insulin requirement >200 units/day), marked hypertriglyceridemia (>2000 mg/dL), and hepatic steatosis beginning 9 years after undergoing to
- PMID 23186952
Japanese Journal
- A Novel Mutation ApoE2 Kurashiki (R158P) in a Patient with Lipoprotein Glomerulopathy
- Tokura Takehiko,Itano Seiji,Kobayashi Shinya,Kuwabara Atsunori,Fujimoto Sohachi,Horike Hideyuki,Satoh Minoru,Komai Norio,Tomita Naruya,Matsunaga Akira,Saito Takao,Sasaki Tamaki,Kashihara Naoki
- Journal of Atherosclerosis and Thrombosis 18(6), 536-541, 2011
- … ApoE2 polymorphism is well known for its relationship to type III hyperlipoproteinemia, and the common apoE2 isoform is encoded by the R158C allele. …
- NAID 130004444518
- High Dietary n-6/n-3 PUFA Ratio Promotes HDL Cholesterol Level, but does not Suppress Atherogenesis in Apolipoprotein E-Null Mice 1
- Zhang Liang,Geng Yue,Xiao Ning,Yin Miao,Mao Liufeng,Ren Guocheng,Zhang Cong,Liu Peng,Lu Nannan,An Liguo,Pan Jie
- Journal of Atherosclerosis and Thrombosis 16(4), 463-471, 2009
- … The major aim of the work was to analyze various ratios of n-6/n-3 PUFA diets on HDL-C metabolism in apolipoprotein E-null (apoE-/-) mice, which have similar symptoms to human type III familial hyperlipoproteinemia.<BR>Methods: Two-month-old male apoE-/- mice were fed four types of n-6/n-3 PUFA diet (group 1, 1.28; …
- NAID 130004444307
Related Links
- 1.1.1 Hyperlipoproteinemia type I; 1.1.2 Hyperlipoproteinemia type II. 1.1.2.1 Type IIa; 1.1.2.2 Type IIb. 1.1.3 Hyperlipoproteinemia type III; 1.1.4 Hyperlipoproteinemia type IV; 1.1.5 Hyperlipoproteinemia type V; 1.1.6 Unclassified familial forms ...
Related Pictures
★リンクテーブル★
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(βVLDL蓄積を特徴とする家族性リポ蛋白過剰症)高リポ蛋白血症III型、高リポ蛋白血症3型、III型高リポ蛋白血症、3型高リポ蛋白血症
- 関
- dysbetalipoproteinemia、type III hyperlipoproteinemia
[★]
- 英
- type III hyperlipoproteinemia、hyperlipoproteinemia type III
- 関
- 異βリポ蛋白血症、III型高リポ蛋白血症、高リポ蛋白血症III型、高リポ蛋白血症3型
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- 英
- type III hyperlipoproteinemia、hyperlipoproteinemia type III
- 関
- 3型高リポ蛋白血症、高リポ蛋白血症III型、高リポ蛋白血症3型
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家族性高リポ蛋白血症III型
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