家族性高リポ蛋白血症III型
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
- relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
- occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
- 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
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
- 家族の,家族特有の / 違伝的な,血統にあらわれる
- 『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)』「2015/01/06 20:55:00」(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
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
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
- Primary hyperlipoproteinemia
- Apolipoprotein B deficiency
- List of cutaneous conditions
References
- ^ 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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Index of inborn errors of metabolism
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Description |
- Metabolism
- Enzymes and pathways: citric acid cycle
- glycolysis
- glycogenesis and glycogenolysis
- fructose and galactose
- pentose phosphate
- glycoproteins
- glycosaminoglycans
- lipid
- phospholipid
- cholesterol and steroid
- lipoprotein
- sphingolipids
- eicosanoids
- amino acid
- urea cycle
- heme and porphyrin
- nucleotide
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Disorders |
- Citric acid cycle and electron transport chain
- Carbohydrate
- Glycoprotein
- Proteoglycan
- Fatty-acid
- Phospholipid
- Cholesterol and steroid
- Lipid
- Lipid storage
- Eicosanoid
- Amino acid
- Purine-pyrimidine
- Heme metabolism
- Symptoms and signs
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Treatment |
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UpToDate Contents
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English Journal
- Anacetrapib as lipid-modifying therapy in patients with heterozygous familial hypercholesterolaemia (REALIZE): a randomised, double-blind, placebo-controlled, phase 3 study.
- Kastelein JJ1, Besseling J2, Shah S3, Bergeron J4, Langslet G5, Hovingh GK2, Al-Saady N6, Koeijvoets M7, Hunter J8, Johnson-Levonas AO9, Fable J3, Sapre A10, Mitchel Y3.
- Lancet (London, England).Lancet.2015 May 30;385(9983):2153-61. doi: 10.1016/S0140-6736(14)62115-2. Epub 2015 Mar 3.
- BACKGROUND: Present guidelines emphasise the importance of low concentrations of LDL cholesterol (LDL-C) in patients with familial hypercholesterolaemia. In most patients with the disease, however, these concentrations are not achieved with present treatments, so additional treatment is therefore wa
- PMID 25743173
- Vascular risk factors, vascular disease, lipids and lipid targets in patients with familial dysbetalipoproteinemia: a European cross-sectional study.
- Koopal C1, Retterstøl K2, Sjouke B3, Hovingh GK3, Ros E4, de Graaf J5, Dullaart RP6, Bertolini S7, Visseren FL8.
- Atherosclerosis.Atherosclerosis.2015 May;240(1):90-7. doi: 10.1016/j.atherosclerosis.2015.02.046. Epub 2015 Feb 27.
- BACKGROUND: Familial dysbetalipoproteinemia (FD), also known as type III hyperlipoproteinemia, is a genetic dyslipidemia characterized by elevated very low density lipoprotein (VLDL) and chylomicron remnant particles that confers increased risk of cardiovascular disease (CVD). The objective of this
- PMID 25768710
- Dysbetalipoproteinemia: Two cases report and a diagnostic algorithm.
- Kei A1, Miltiadous G1, Bairaktari E1, Hadjivassiliou M1, Cariolou M1, Elisaf M1.
- World journal of clinical cases.World J Clin Cases.2015 Apr 16;3(4):371-6. doi: 10.12998/wjcc.v3.i4.371.
- Dysbetalipoproteinemia is a rare familial dyslipidemia characterized by approximately equally elevated serum cholesterol and triglyceride levels due to accumulated remnant lipoproteins in apolipoprotein E2/E2 homozygotes. It is associated with an increased risk for premature cardiovascular disease.
- PMID 25879010
Japanese Journal
- Compound Heterozygotes for a Novel Mutation, Apo E1 Nagoya (Arg142Ser) and Apo E2 (Arg158Cys), with Severe Type III Hyperlipoproteinemia and Familial Hypercholesterolemia
- Sakuma Nagahiko,Hibino Takeshi,Saeki Tomoaki,Nagata Takahiro,Sato Toru,Okuda Noriaki,Matsunaga Akira,Sasaki Jun
- Journal of Atherosclerosis and Thrombosis 21(9), 983-988, 2014
- … Aim: A patient with severe type III hyperlipoproteinemia and familial hypercholesterolemia (FH) was previously reported (Metabolism, 44,1995:460-465). … Therefore, the patient was compound heterozygous for apo E1 (Arg142Ser) and apo E2 (Arg158Cys).Conclusions: A novel mutation, apo E1 Nagoya (Arg142Ser) in a patient with severe type III hyperlipoproteinemia with heterozygous FH was characterized. …
- NAID 130004690936
- 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
- Type iii familial hyperlipoproteinemia definition at Dictionary.com, a free online dictionary with pronunciation, synonyms and translation. Look it up now! Thesaurus Translate Puzzles & Games Word of the Day Blog Slideshows ...
- Broad-betalipoproteinemia Dyslipidemia type 3 Familial dysbetalipoproteinemia Familial hyperlipoproteinemia type 3 HLP type 3 Hyperlipidemia type 3 Remnant disease Prevalence 1-5 / 10 000 Inheritance Multigenic/multifactorial ...
Related Pictures
★リンクテーブル★
[★]
- 英
- familial hyperlipoproteinemia type III, familial type III hyperlipoproteinemia
- 同
- 家族性異常βリポタンパク血症 家族性異常βリポ蛋白血症 familial dyslipoproteinemia、ブロードβ病 brood-beta disease
[★]
- (windows)ファイル内容表示(linux -> cat])
- ex. type report_20111118.jp.htm | php a.php > report_20111118.jp.jp.jp.html
- 関
- form、mode、pattern、type specimen、typed
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- 関
- family、family member、household、kindred
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- 関
- form、mode、pattern、type