Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 GeneticVariation disease BEFREE In addition, we also describe a novel missense mutation in exon 11 of the ABCG5 gene, which enriches the genetic mutation spectrum of sitosterolemia. 30782472 2020
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 GeneticVariation disease BEFREE Literature review found another 30 pediatric cases with sitosterolemia due to ABCG5 gene mutation. 30985648 2019
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 GeneticVariation disease BEFREE We present the first case of sitosterolemia caused by double heterozygous mutations in adenosine triphosphate-binding cassette subfamily G members 5 and 8 (ABCG5 and ABCG8) genes. 30007774 2019
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 CausalMutation disease CLINVAR [Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia]. 29886606 2018
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 CausalMutation disease CLINVAR Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study. 29353225 2018
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 CausalMutation disease CLINVAR Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia. 28521186 2017
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 GeneticVariation disease BEFREE Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene. 28771437 2017
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 Biomarker disease BEFREE In this regard, ABC transporters, such as ABCA1, ABCG5 and ABCG8, were initially found to be responsible for genetically-inherited syndromes like Tangier diseases and sitosterolemia. 28383515 2017
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 GeneticVariation disease BEFREE Objectives To report two novel ABCG5 variants causing STSL in a Spanish patient, and review the clinical and mutational landscape of STSL. 28696550 2017
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 GeneticVariation disease BEFREE In conclusion, we here report the first case of a Mexican family with sitosterolemia carrying two new ABCG5 gene mutations. 26892138 2016
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 GeneticVariation disease BEFREE Based on the third variant, a stop variant in ABCG5 (p.(Arg446*)), we established a diagnosis of sitosterolemia, confirmed by elevated blood plant sterol levels and successfully initiated targeted lipid-lowering treatment. 26813946 2016
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 Biomarker disease GENOMICS_ENGLAND Congenital macrothrombocytopenia is a heterogeneous disorder in India. 27291889 2016
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 CausalMutation disease CLINVAR Against all odds: blended phenotypes of three single-gene defects. 26813946 2016
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 CausalMutation disease CLINVAR Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding. 25665839 2015
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 CausalMutation disease CLINVAR Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. 24423340 2014
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 AlteredExpression disease BEFREE We sequenced ABCG5 and ABCG8 and measured the levels of plasma plant sterols in a 15-year-old Chinese girl with clinical sitosterolaemia (xanthomas with elevated low-density lipoprotein cholesterol (LDL-C) and plant sterols) and her apparently healthy family members. 25056759 2014
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 CausalMutation disease CLINVAR Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. 24166850 2014
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 GeneticVariation disease BEFREE A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis. 24623560 2014
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 Biomarker disease BEFREE Knockout mice deficient in Abcg5 or Abcg8 recapitulate many of the phenotypic features of sitosterolemia. 23180829 2013
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 Biomarker disease BEFREE Sitosterolemia induced in Abcg5- and Abcg8-deficient mice fed a high plant sterol diet resulted in accumulation of free sterols in platelet plasma membranes, leading to hyperactivatable platelets characterized by constitutive binding of fibrinogen to its αIIbβ3 integrin receptor, internalization of the αIIbβ3 complex, generation of platelet-derived microparticles, and changes in the quantity and subcellular localization of filamin. 23926302 2013
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 CausalMutation disease CLINVAR [Clinical and gene study of three pedigrees of phytosterolemia associated with macrothrombocytopenia and hemolysis]. 21729603 2011
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 GeneticVariation disease BEFREE Although not sufficient evidence exists to regard this sequence variation as a mutation, this previously unreleased sequence variation occurred in a "hot spot" area for sitosterolemia of the ABCG5 gene (exon 9) and the similar increased plasma plant sterol concentrations of the heterozygous mother contribute to the notion, that this very likely presents an inactivating mutation. 21664501 2011
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 CausalMutation disease CLINVAR Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children. 20521169 2010
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 GeneticVariation disease BEFREE Sitosterolemia is a rare, autosomal recessive inherited sterol storage disease associated with high tissue and serum plant sterol concentrations, caused by mutations in the adenosine triphosphate-bind-ing cassette (ABC) transporter ABCG5 or ABCG8 genes. 20543520 2010
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
0.800 Biomarker disease BEFREE Cholestyramine is essential in the treatment of sitosterolemia (ABCG5/8 deficiency). 20034695 2010