APOA1, apolipoprotein A1, 335

N. diseases: 416; N. variants: 32
Disease: Tangier Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.100 Biomarker disease BEFREE The ATP-binding cassette transporter ABCA1 is required for the conversion of apolipoprotein A-1 to high-density lipoprotein (HDL), and its defect causes Tangier disease, a rare disorder characterized by an absence of HDL and accumulation of cholesterol in peripheral tissues. 26749169 2016
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.100 Biomarker disease BEFREE Relative to IPSDM and HMDM of control individuals, patterns of defective cholesterol efflux to apolipoprotein A-I and high-density lipoprotein-3 were qualitatively and quantitatively similar in IPSDM and HMDM of patients with Tangier disease, an autosomal recessive disorder because of mutations in ATP-binding cassette transporter AI. 25904599 2015
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.100 GeneticVariation disease BEFREE Depletion of sphingomyelin in stably transfected HEK293 cells expressing the Tangier disease W590S mutant ABCA1 isoform rescued the defect in PS exposure and restored cholesterol efflux to apoAI. 24220029 2013
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.100 GeneticVariation disease BEFREE The Tangier disease mutation W590S, which resides in the extracellular domain and impairs apoA-I-dependent lipid efflux, greatly decreased NaTC-dependent cholesterol and phospholipid efflux. 19202195 2009
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.100 GeneticVariation disease BEFREE Cholesterol efflux from monocyte-derived macrophages to lipid-free apolipoprotein A-I (apoA-I; %) was measured in 22 patients with familial low HDL without Tangier disease mutations and in 21 healthy controls. 17372331 2007
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.100 Biomarker disease BEFREE Ectopic expression of the catalytic subunit of human telomerase extended the life span of control and TD skin fibroblasts, and (in contrast to immortalization procedures using viral oncogenes) did not impair apolipoprotein A-I-induced lipid efflux. 15001567 2004
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.100 Biomarker disease LHGDN Ectopic expression of the catalytic subunit of human telomerase extended the life span of control and TD skin fibroblasts, and (in contrast to immortalization procedures using viral oncogenes) did not impair apolipoprotein A-I-induced lipid efflux. 15001567 2004
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.100 GeneticVariation disease BEFREE Identification of mutations in the ATP binding cassette transporter (ABCA1) gene in patients with Tangier disease, who exhibit reduced HDL cholesterol (HDL-C) and apolipoprotein A1 (apoA1) levels and premature coronary atherosclerosis, has led to the hypothesis that common polymorphisms in the ABCA1 gene could determine HDL-C and apoA1 levels and the risk of coronary atherosclerosis in the general population. 11349008 2001
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.100 Biomarker disease BEFREE We conclude that PLC and PLD activities are required for apoA-I-mediated cellular cholesterol efflux, and modulating cellular PA concentration can correct, at least partially, the cholesterol efflux defect in FHD and TD. 11181755 2001
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.100 Biomarker disease BEFREE This technique also demonstrated the presence of altered apolipoprotein A-I isoforms in the plasma of a patient with Tangier disease. 3105587 1987
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.100 GeneticVariation disease BEFREE Specific entities falling within this category include Tangier disease, familial HDL deficiency with planar xanthomas, familial apolipoprotein A-I and C-III deficiency (formerly known as apolipoprotein A-I absence), familial deficiency of apolipoprotein A-I and C-III, fish-eye disease, familial hypoalphalipoproteinemia, and apolipoprotein A-I variants (apo A-I Milano, apo A-I Marburg, apo A-I Giessen, and apo A-I Munster 1-3). 6431953 1984
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.100 GeneticVariation disease BEFREE Tangier disease: a structural defect in apolipoprotein A-I (apoA-I Tangier). 6806810 1982
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.100 Biomarker disease BEFREE Plasma apolipoprotein concentrations in familial apolipoprotein A-I and A-II deficiency (Tangier disease). 6790903 1981
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.100 AlteredExpression disease BEFREE Obligate heterozygotes for Tangier disease had apoA-I levels that were 50% or less of controls, even when estimates of high-density lipoprotein cholesterol concentration were normal. 622047 1978