Disease: Abetalipoproteinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE Here we report three patients with severe deficiency of plasma low-density lipoprotein (LDL) and apo B.Two of them (probands F.A. and P.E.) had clinical and biochemical phenotype consistent with ABL.Proband F.A. was homozygous for a minute deletion/insertion (c.1228delCCCinsT) in exon 9 of MTP gene predicted to cause a truncated MTP protein of 412 amino acids. 15910857 2005
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE Abetalipoproteinemia (ABL) is a recessive disorder due to mutations of microsomal triglyceride transfer protein (MTP) gene. 14732481 2004
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease UNIPROT These findings suggest that genetic and non-genetic factors can modulate the clinical impact of mutant MTP in ABL patients. 10679949 2000
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE The rare recessive forms of primary monogenic HBL are represented by abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD) due to mutations in MTP and SARA2 genes, respectively. 21874758 2011
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease CLINVAR Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. 8533758 1995
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease BEFREE Intestinal lipid malabsorption, resulting from an impaired formation or secretion of chylomicrons and associated with severe hypobetalipoproteinemia (HBL), may be due to biallelic mutations in APOB (homozygous FHBL type-1), MTTP (abetalipoproteinemia), or SAR1B (chylomicron retention disease). 31253576 2019
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE Her cousin was homozygous for 1867+1G>A MTTP mutation and presented most of the classical symptoms of ABL. 27578136 2017
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE Thus, mutations in the gene for the large subunit of MTP are a cause of abetalipoproteinemia, which indicates that the MTP is a necessary component for the assembly and secretion of apoB-containing lipoproteins from the liver and intestine. 8044420 1994
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease BEFREE The results indicate that a defect in the gene for the large subunit of MTP is the proximal cause of abetalipoproteinaemia in these two subjects, and that MTP is required for the secretion of plasma lipoproteins that contain apolipoprotein B. 8361539 1993
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects. 27487388 2016
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE A search for sequence variants in the large subunit of MTP in a kindred of 10 individuals from Saguenay-Lac-St Jean area with a propositus exhibiting ABL as well as in four independent patients from the greater Quebec city area and exhibiting very low apoB and LDL-cholesterol levels identified 12 variations. 14741197 2004
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease BEFREE Mutations in MTP which result in an absence of MTP function have been shown to cause abetalipoproteinemia. 7782284 1995
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE Characterization of mutations in MTP causing abetalipoproteinemia has revealed that the central α-helical and C-terminal β-sheet domains are important for protein disulfide isomerase binding and lipid transfer activity. 26224785 2015
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease GENOMICS_ENGLAND Peripheral neuropathy in abetalipoproteinemia. 2991816 1985
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase. 8939939 1996
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE Several mutations in the apoB, proprotein convertase subtilisin/kexin type 9 (PCSK9), and MTP genes result in low or absent levels of apoB and LDL-cholesterol in plasma, which cause familial hypobetalipoproteinemia and abetalipoproteinemia. 24751931 2014
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE These findings suggest that genetic and non-genetic factors can modulate the clinical impact of mutant MTP in ABL patients. 10679949 2000
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. 23043934 2013
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease BEFREE We constructed a long-range restriction map of the tuberous sclerosis (TSC1) region of human chromosome 9q34, extending from ABL (T39-2-2) to D9S114. 7590733 1995
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE The pigmentary retinopathy and neuropathy of abetalipoproteinemia (Mendelian Inheritance of Man 200100; Bassen-Kornzwieg disease), which is caused by mutations in the MTP gene, may involve loss of function at the retina. 15654125 2005
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 Biomarker disease BEFREE Microsomal triglyceride transfer protein (MTP) is necessary for the assembly and secretion of VLDL and when the protein is not functional, such as in abetalipoproteinaemia, a steatohepatitis occurs. 10990076 2000
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE We discovered a novel mutation in MTTP gene and we confirmed the diagnosis of abetalipoproteinemia in new Tunisian families. 23556456 2013
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE Abetalipoproteinemia (ABL) is a rare recessive monogenic disease due to MTTP (microsomal triglyceride transfer protein) mutations leading to the absence of plasma apoB-containing lipoproteins. 30875496 2019
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 GeneticVariation disease BEFREE ABL and CRD are rare disorders due to mutations in the MTP and SARA2 genes, respectively. 17570373 2007