- 関
- familial hypoalphalipoproteinemia
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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2017/03/26 09:54:17」(JST)
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Hypoalphalipoproteinemia |
Classification and external resources |
Specialty |
endocrinology |
ICD-10 |
E78.6 |
ICD-9-CM |
272.5 |
OMIM |
604091 |
eMedicine |
med/3368 |
MeSH |
D052456 |
[edit on Wikidata]
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Hypoalphalipoproteinemia is a high-density lipoprotein deficiency, inherited in an autosomal dominant manner.[1]
Hypoalphalipoproteinemia has an autosomal dominant pattern of inheritance.
It can be associated with LDL receptor.[2]
Associated regions and genes include:
Name |
OMIM |
Locus |
Candidates |
HDLCQ1 |
606613 |
9p |
ABCA1 (Tangier disease)[3] |
HDLCQ2 |
607053 |
8q23 |
HDLCQ3 |
607687 |
16q24.1 |
Lecithin cholesterol acyltransferase deficiency (LCAT) |
HDLCQ4 |
610239 |
4q32 |
HDLD3 |
605201 |
11q23.3 |
APOA1 |
Niacin is sometimes prescribed to raise HDL levels.
References
- ^ Online Mendelian Inheritance in Man (OMIM) 604091
- ^ Pisciotta L, Calabresi L, Lupattelli G, et al. (September 2005). "Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes". Atherosclerosis. 182 (1): 153–9. doi:10.1016/j.atherosclerosis.2005.01.048. PMID 16115486.
- ^ Soro-Paavonen A, Naukkarinen J, Lee-Rueckert M, et al. (June 2007). "Common ABCA1 variants, HDL levels, and cellular cholesterol efflux in subjects with familial low HDL". J. Lipid Res. 48 (6): 1409–16. doi:10.1194/jlr.P600012-JLR200. PMID 17372331.
Inborn error of lipid metabolism: dyslipidemia (E78, 272.0–272.6)
|
|
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
|
|
Hypolipoproteinemia |
Hypoalphalipoproteinemia/HDL |
- Lecithin cholesterol acyltransferase deficiency
- Tangier disease
|
|
Hypobetalipoproteinemia/LDL |
- 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
|
UpToDate Contents
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English Journal
- Early coronary artery disease - Usual and unusual suspects.
- Markousis-Mavrogenis G1, Mavrogeni S2, Kolovou G1.
- International journal of cardiology.Int J Cardiol.2015 Sep 25;202:511. doi: 10.1016/j.ijcard.2015.09.050. [Epub ahead of print]
- PMID 26447655
- An investigation into the dose-related antihyperglycemic and hypolipidemic effects of two novel thiazolidin-4-ones in a rodent model of metabolic syndrome.
- Karot SS1, Surenahalli VG1, Kishore A1, Mudgal J1, Nandakumar K1, Chirayil MT1, Mathew G1, Nampurath GK1.
- Journal of diabetes.J Diabetes.2015 Sep 8. doi: 10.1111/1753-0407.12341. [Epub ahead of print]
- BACKGROUND: The replacement of the thiazolidinedione moiety with a thiazolidinone may yield antidiabetic compounds with similar pleiotropic effects. Hence, aim of the present study was to explore the dose-related anti-hyperglycemic and hypolipidemic activity of two synthesised novel thiazolidin-4-on
- PMID 26345135
- Beta2-adrenergic activity modulates vascular tone regulation in lecithin:cholesterol acyltransferase knockout mice.
- Manzini S1, Pinna C2, Busnelli M3, Cinquanta P4, Rigamonti E5, Ganzetti GS6, Dellera F7, Sala A8, Calabresi L9, Franceschini G10, Parolini C11, Chiesa G12.
- Vascular pharmacology.Vascul Pharmacol.2015 Aug 5. pii: S1537-1891(15)00182-2. doi: 10.1016/j.vph.2015.08.006. [Epub ahead of print]
- Lecithin:cholesterol acyltransferase (LCAT) deficiency is associated with hypoalphalipoproteinemia, generally a predisposing factor for premature coronary heart disease. The evidence of accelerated atherosclerosis in LCAT-deficient subjects is however controversial. In this study, the effect of LCAT
- PMID 26254103
Japanese Journal
- 原発性低脂血症の病型分類と病因・臨床徴候・管理法 原発性低LDLコレステロール血症 家族性HDL欠損症 (脂質代謝異常--高脂血症・低脂血症) -- (脂質代謝異常の臨床 低脂血症)
- 4 Adiponectin Accelerates Reverse Cholesterol Transport by Increasing HDL Assembly in the Liver and by Enhancing Cholesterol Efflux from Foam Cells(Hypoalphalipoproteinemia, Its Pathogenesis and Treatments, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- Matsuura Fumihiko,Koseki Masahiro,Oku Hiroyuki,Yamashita Shizuya
- Circulation journal : official journal of the Japanese Circulation Society 71(Supplement_I), 65, 2007-03-01
- NAID 110006396173
- 3 The Role of Endothelial Lipase in HDL Metabolism and Atherosclerosis : A New Therapeutic Target for Raising HDL-Cholesterol(Hypoalphalipoproteinemia, Its Pathogenesis and Treatments, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- Hirata Ken-ichi,Ishida Tatsuro,Yokoyama Mitsuhiro
- Circulation journal : official journal of the Japanese Circulation Society 71(Supplement_I), 65, 2007-03-01
- NAID 110006396172
Related Links
- hypoalphalipoproteinemia /hy·po·al·pha·lipo·pro·tein·emia/ (-al″fah-lip″o-pro″te-ne´me-ah) 1. deficiency of high-density (alpha) lipoproteins in ... Disclaimer All content on this website, including dictionary, thesaurus, literature ...
- Review [Hypoalphalipoproteinemia] Nippon Rinsho. 2001 Mar; 59 Suppl 3:508-12. [Nippon Rinsho. 2001] [Diagnosis of overload disorders. Determination of alpha-lipoproteins] Presse Med. 1983 May 21; 12(22):1429. [Presse Med ...
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- hypoalphalipoproteinemia
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- 家族性低αリポ蛋白血症
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家族性低αリポ蛋白血症
- 関
- hypoalphalipoproteinemia