| Entry |
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| Name |
Hyperalphalipoproteinemia |
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| Description |
Hyperalphalipoproteinemia (HALP) is a condition of elevated high-density lipoprotein cholesterol (HDL-C) level caused by a variety of genetic and environmental factors. The most important cause of primary HALP is a genetic deficiency of CETP, which has been reported mainly from Japan. A mutation in APOC3 gene is also associated in some families. Familial HALP often coexists with longevity, and that higher HDL-C levels are found among healthy elderly. HALP is also associated with some diseases. Recent studies have shown that hetero and homozygosity for CETP gene mutations is associated with an increased coronary artery disease (CAD) risk.
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| Category |
Inherited metabolic disease; Hematologic disease
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| Brite |
Human diseases [BR:br08402]
Congenital disorders of metabolism
Congenital disorders of lipid/glycolipid metabolism
H01199 Hyperalphalipoproteinemia
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Disorders of lipoprotein metabolism or certain specified lipidaemias
5C80 Hyperlipoproteinaemia
H01199 Hyperalphalipoproteinemia
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| Pathway |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Yamashita S, Hirano K, Sakai N, Matsuzawa Y |
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| Title |
Molecular biology and pathophysiological aspects of plasma cholesteryl ester transfer protein. |
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| Journal |
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| Reference |
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| Authors |
Boes E, Coassin S, Kollerits B, Heid IM, Kronenberg F |
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| Title |
Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review. |
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| Journal |
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| Reference |
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| Authors |
Hovingh GK, de Groot E, van der Steeg W, Boekholdt SM, Hutten BA, Kuivenhoven JA, Kastelein JJ |
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| Title |
Inherited disorders of HDL metabolism and atherosclerosis. |
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| Journal |
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| Reference |
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| Authors |
Pollin TI, Damcott CM, Shen H, Ott SH, Shelton J, Horenstein RB, Post W, McLenithan JC, Bielak LF, Peyser PA, Mitchell BD, Miller M, O'Connell JR, Shuldiner AR |
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| Title |
A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. |
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| Journal |
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| Reference |
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| Authors |
von Eckardstein A, Holz H, Sandkamp M, Weng W, Funke H, Assmann G |
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| Title |
Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. |
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| Journal |
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| LinkDB |
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