APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 GeneticVariation disease BEFREE The most frequent monogenic causes of low plasma cholesterol are familial hypobetalipoproteinemia (FHBL1) because of truncating mutations in apolipoprotein B coding gene (APOB) and familial combined hypolipidemia (FHBL2) due to loss-of-function mutations in ANGPTL3 gene. 28733173 2018
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 GeneticVariation disease BEFREE Familial hypobetalipoproteinemia (FHBL) represents the genetic mirror of FH in terms of LDL-C levels, very low in subjects carrying mutations of APOB, PCSK9 (FHBL1) or ANGPTL3 (FHBL2). 27804036 2017
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 GeneticVariation disease BEFREE The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations. 26073401 2016
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 GeneticVariation disease BEFREE The autosomal co-dominant disorder familial hypobetalipoproteinemia (FHBL) may be due to mutations in the APOB gene encoding apolipoprotein B (apoB), the main constituent peptide of chylomicrons, very low and low density lipoproteins. 26612772 2016
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 GeneticVariation disease BEFREE Familial hypobetalipoproteinemia (FHBL) is characterized by mutations in APOB, the majority of these causing protein truncations, and low plasma levels of apolipoprotein (apo) B. 26916057 2016
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 GeneticVariation disease BEFREE Currently, genetic diagnosis in FHBL relies largely on Sanger sequencing to identify APOB and PCSK9 gene mutations and on western blotting to detect truncated ApoB species. 27179706 2016
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 Biomarker disease BEFREE ApoB production rates and IDL- and LDL-apoB FCRs were not different between FHBL subjects and controls. 26323024 2015
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 AlteredExpression disease BEFREE Familial hypobetalipoproteinemia (FHBL) is autosomal codominant disorder of lipoprotein metabolism characterized by low plasma levels of total cholesterol (TC), low-density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (apoB) below the 5(th) percentile of the distribution in the population. 25618028 2015
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 GeneticVariation disease BEFREE However, she had no mutations in FHBL candidate genes (APOB, PCSK9 and ANGPTL3). 23043934 2013
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 GeneticVariation disease BEFREE We describe a case in which an obese woman with APOB L343V FHBL developed non-alcoholic steatohepatitis-related cirrhosis of the liver. 23694813 2013
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 GeneticVariation disease BEFREE We scanned for ANGPTL3 mutations in 4 unrelated Spanish families with FHBL criteria but negative for mutations in APOB. 22155345 2012
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 GeneticVariation disease BEFREE The proband's wife and children presented with familial hypobetalipoproteinemia and were heterozygotes for the novel apoB H1401R variant. 22658148 2012
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 Biomarker disease BEFREE FHBL without truncated apoB is a heterogeneous disease from a metabolic and a genetic perspective. 21502677 2011
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 GeneticVariation disease BEFREE Most mutations that cause FHBL are APOB truncating mutations. 21122650 2011
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 Biomarker disease BEFREE These results suggest that feedback inhibition of hepatic lipogenesis in conjunction with post-ER degradation of misfolded apoB proteins can contribute to reduce fat accumulation in the FHBL liver. 20032471 2010
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 AlteredExpression disease BEFREE Familial hypobetalipoproteinemia is a disorder of lipid metabolism characterized by extremely low plasma levels of apolipoprotein B as well as low levels of total and low-density lipoprotein cholesterol. 19773654 2009
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 GeneticVariation disease BEFREE FHBL due to R463W apoB mutation is a cause of intestinal fat accumulation and postprandial lipid absorption impairment. 19344897 2009
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 GeneticVariation disease BEFREE We report two novel APOB gene mutations involving the acceptor splice site of intron 11 (c.1471-1G>A) and of intron 23 (c.3697-1G>C), respectively, which were identified in two patients with heterozygous FHBL associated with severe fatty liver disease. 19084451 2009
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 Biomarker disease BEFREE The objectives of this study were to identify apoB-defective FHBL subjects and investigate fatty liver in Japanese population. 18848826 2009
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 GeneticVariation disease BEFREE We described here an unusual clinical observation of a patient with FHBL and early development of liver cirrhosis due to a new truncated form of apoB. 19060634 2009
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 Biomarker disease BEFREE Multicompartmental modeling analysis showed that the delay time of apoB-48 was shorter and that apoB-48 production was decreased in FHBL subjects compared with controls. 17213276 2007
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 GeneticVariation disease BEFREE In a group of 59 patients with FHBL genotyped for APOB gene mutations, we found three novel splice-site mutations: c.904+4A-->G in intron 8, c.3843-2A-->G in intron 24 and c.4217-1G-->T in intron 25. 17158591 2007
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 GeneticVariation disease BEFREE We sequenced PCSK9 gene in 18 familial hypobetalipoproteinemia subjects and in 102 hypocholesterolemic blood donors who were negative for APOB gene mutations known to cause familial hypobetalipoproteinemia. 17170371 2007
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 Biomarker disease BEFREE The FHBL parents had low serum lipid and apoB profiles distinguishing the disorder from the normal levels in ABL parents. 18027103 2007
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
0.500 Biomarker disease BEFREE FHBL may be linked or not to the APOB gene. 17570373 2007