About: hyperalphalipoproteinemia

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An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.

Attributes	Values
rdf:type	Item
description	An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease. (en)
exact match	wds:Q56013772-47294B8B-9767-476E-AA41-71AF8C21CE08
exact match	http://www.orpha.net/ORDO/Orphanet_181428
Mondo ID	wds:Q56013772-552F6898-4433-4F74-9151-969C1E7BF2F7
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0015903
Mondo ID	MONDO_0015903
rdfs:label	hyperalphalipoproteinemia (en) hyperalphalipoprotéinémie (fr)
skos:prefLabel	hyperalphalipoproteinemia (en) hyperalphalipoprotéinémie (fr)
name	hyperalphalipoproteinemia (en) hyperalphalipoprotéinémie (fr)
instance of	wds:Q56013772-7D351B39-E808-425F-ADA7-16EAE27B6F8E
instance of	class of disease
subclass of	wds:Q56013772-A33C79AA-3AF0-4F39-B02D-E65150A402BB
subclass of	hyperlipidemia
eMedicine ID	wds:Q56013772-B43FFEB1-0BA3-4B1B-ACE5-6914E4F01E10
eMedicine ID	121187
KEGG ID	wds:Q56013772-75b5f5f2-40e6-f42c-e952-40b0aa4483df
KEGG ID	http://www.kegg.jp/entry/H01199
KEGG ID	H01199
Orphanet ID	wds:Q56013772-EF0F2DDF-0CF9-4E98-AD13-0116BF489322
ICD-9-CM	wds:Q56013772-5659BC85-BC13-4CF4-BDA4-3A6A04B2381A
ICD-10-CM	wds:Q56013772-4F9CC075-E8B0-4DA8-A67E-309F4BFFA31F
Orphanet ID	181428
ICD-9-CM	272.4
ICD-10-CM	E78.4
NCI Thesaurus ID	wds:Q56013772-A1E10075-E758-478B-8357-4A6B70B4AB6C
UMLS CUI	wds:Q56013772-CD5F4C4B-95C0-485D-83F2-3CD8F88F5BB4
ICD-11 ID (MMS)	wds:Q56013772-6E9945DF-CF0F-44BA-9684-9141C9FD4790
ICD-11 (foundation)	wds:Q56013772-2CE8BFD3-3A19-4B9A-BFE7-98A00E5B7602
NCI Thesaurus ID	C128806
UMLS CUI	C0342883
ICD-11 ID (MMS)	5C80.3
ICD-11 (foundation)	1599779547
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q56013772
is subclass of of	hyperalphalipoproteinemia 1
is subclass of of	wds:Q102296849-99f6f1aa-48a9-1cf3-a971-7b8cb02f963d
is main subject of	Atherosclerotic disease in marked hyperalphalipoproteinemia. Combined reduction of cholesteryl ester transfer protein and hepatic triglyceride lipase Combined hyperlipidemia/hyperalphalipoproteinemia associated with premature spontaneous atherosclerosis in mice lacking hepatic lipase and low density lipoprotein receptor. ABCA1 overexpression leads to hyperalphalipoproteinemia and increased biliary cholesterol excretion in transgenic mice Prevalence and phenotypic spectrum of cholesteryl ester transfer protein gene mutations in Japanese hyperalphalipoproteinemia Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia Molecular mechanisms, lipoprotein abnormalities and atherogenicity of hyperalphalipoproteinemia A familial hyperalphalipoproteinemia with low uptake of high density lipoproteins into peripheral lymphocytes Small polydisperse low density lipoproteins in familial hyperalphalipoproteinemia with complete deficiency of cholesteryl ester transfer activity Lipoproteins in familial hyperalphalipoproteinemia Rate of cholesteryl ester transfer between high and low density lipoproteins in human serum and a case with decreased transfer rate in association with hyperalphalipoproteinemia A case of hyperalphalipoproteinemia associated with albumin complexing Frequency of intron 14 splicing defect of cholesteryl ester transfer protein gene in the Japanese general population--relation between the mutation and hyperalphalipoproteinemia Upregulated synthesis of both apolipoprotein A-I and apolipoprotein B in familial hyperalphalipoproteinemia and hyperbetalipoproteinemia Overexpression of human lecithin cholesterol acyltransferase leads to hyperalphalipoproteinemia in transgenic mice Disease-associated marked hyperalphalipoproteinemia Hyperalphalipoproteinemia in human lecithin cholesterol acyltransferase transgenic rabbits. In vivo apolipoprotein A-I catabolism is delayed in a gene dose-dependent manner Scavenger receptor class B type I protein as an independent predictor of high-density lipoprotein cholesterol levels in subjects with hyperalphalipoproteinemia Increased production of apolipoprotein A-I associated with elevated plasma levels of high-density lipoproteins, apolipoprotein A-I, and lipoprotein A-I in a patient with familial hyperalphalipoproteinemia Complex segregation analysis of hyperalphalipoproteinemia. Increased plasma apolipoprotein E-rich high-density lipoprotein and its effect on serum high-density lipoprotein cholesterol determination in patients with familial hyperalphalipoproteinemia due to cholesteryl ester transfer activity deficiency Genetic cholesteryl ester transfer protein deficiency is extremely frequent in the Omagari area of Japan. Marked hyperalphalipoproteinemia caused by CETP gene mutation is not associated with longevity Association of a polymorphism in the Apo AI gene promoter with hyperalphalipoproteinemia A pedigree of homozygous familial hyperalphalipoproteinemia Postheparin plasma lipoprotein and hepatic lipase are determinants of hypo- and hyperalphalipoproteinemia Molecular genetic study of Finns with hypoalphalipoproteinemia and hyperalphalipoproteinemia: a novel Gly230 Arg mutation (LCAT[Fin]) of lecithin:cholesterol acyltransferase (LCAT) accounts for 5% of cases with very low serum HDL cholesterol levels Improved plasma cholesterol efflux capacity from human macrophages in patients with hyperalphalipoproteinemia. The two novel CETP mutations Gln87X and Gln165X in a compound heterozygous state are associated with marked hyperalphalipoproteinemia and absence of significant coronary artery disease. Human apolipoprotein A-I gene promoter polymorphism: association with hyperalphalipoproteinemia Neonatal familial hyperalphalipoproteinemia Flow-mediated dilation, carotid wall thickness and HDL function in subjects with hyperalphalipoproteinemia. Association of an intronic haplotype of the LIPC gene with hyperalphalipoproteinemia in two independent populations. Rapid detection and prevalence of cholesteryl ester transfer protein deficiency caused by an intron 14 splicing defect in hyperalphalipoproteinemia Hypo- and hyperalphalipoproteinemia and genetic abnormalties in reverse cholesterol transport system High density lipoproteins with poor reactivity to cholesteryl ester transfer reaction observed in a homozygote of familial hyperalphalipoproteinemia The Arg123-Tyr166 central domain of human ApoAI is critical for lecithin:cholesterol acyltransferase-induced hyperalphalipoproteinemia and HDL remodeling in transgenic mice Hyperalphalipoproteinemia: characterization of a cardioprotective profile associating increased high-density lipoprotein2 levels and decreased hepatic lipase activity Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia A family of homozygous familial hyperalphalipoproteinemia with complete deficiency of cholesteryl ester transfer activity Type II hyperlipoproteinemia, hyperapobetalipoproteinemia, and hyperalphalipoproteinemia following renal transplantation: prevalence and precipitating factors [Changes in the surface charge of lipoproteins isolated from the plasma of persons with hyperalphalipoproteinemia] [Longevity syndrome: lipoprotein abnormalities in families of homozygous hyperalphalipoproteinemia and hypobetalipoproteinemia] [Primary hyperalphalipoproteinemia] Mutations of the human hepatic lipase gene in patients with combined hypertriglyceridemia/hyperalphalipoproteinemia and in patients with familial combined hyperlipidemia Metabolic abnormalities in multiple symmetric lipomatosis: elevated lipoprotein lipase activity in adipose tissue with hyperalphalipoproteinemia High density lipoprotein metabolism in a rabbit model of hyperalphalipoproteinemia Elevated hepatic apolipoprotein A-I transcription is associated with diet-induced hyperalphalipoproteinemia in rabbits Resequencing CETP, LIPC and LIPG genes in Thai subjects with hyperalphalipoproteinemia. Antioxidative activity of HDL particle subspecies is impaired in hyperalphalipoproteinemia: relevance of enzymatic and physicochemical properties. Familial Hyperalphalipoproteinemia Type II hyperlipoproteinemia, hyperapobetalipoproteinemia, and hyperalphalipoproteinemia following renal transplantation: implications for atherogenic risk Novel polymorphisms associated with hyperalphalipoproteinemia and apparent cardioprotection. Two novel mutations and functional analyses of the CETP and LIPC genes underlying severe hyperalphalipoproteinemia. A novel mutation in the intron 1 splice donor site of the cholesterol ester transfer protein (CETP) gene as a cause of hyperalphalipoproteinemia Cholesteryl ester transfer protein and hyperalphalipoproteinemia in Caucasians Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia. Genetic variation in phospholipid transfer protein modulates lipoprotein profiles in hyperalphalipoproteinemia Distribution of human plasma PLTP mass and activity in hypo- and hyperalphalipoproteinemia Composition of HDL-2 and HDL-3 in familial hyperalphalipoproteinemia Decreased serum cholesteryl-ester transfer activity in a patient with familial hyperalphalipoproteinemia Hyperalphalipoproteinemia in hypercholesterolemic adults and children [Cholesteryl ester transfer protein (CETP) deficiency and increased HDL cholesterol levels (hyperalphalipoproteinemia)]

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