Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE Mutation analysis was carried out for 8 genes associated with HI (ABCC8, KCNJ11, GLUD1, GCK, HADH, HNF4A, HNF1A, and UCP2). 29493090 2018
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE Hyperinsulinism-Causing Mutations Cause Multiple Molecular Defects in SUR1 NBD1. 28346775 2017
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE Our findings highlight that homozygous loss-of-function mutations of ABCC8 do not necessarily translate into early-onset severe hyperinsulinemia. 25720052 2015
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 Biomarker disease BEFREE We suggest that the hyperinsulinaemia that is observed in TPP may be linked to the ATP-sensitive K(+)/SUR1 alanine variant and, therefore, contribute to the major feedforward precipitating factors in the pathophysiology of TPP. 25143473 2014
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE Octreotide-induced long QT syndrome in a child with congenital hyperinsulinemia and a novel missense mutation (p.Met115Val) in the ABCC8 gene. 24080777 2013
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE We describe the interesting case of an infant with PNDM, in whom a compound heterozygous activating/ inactivating mutation was found with clinically unaffected parents, each carrying a heterozygous mutation in ABCC8, one predicting gain of function (neonatal diabetes) and the other a loss of function (hyperinsulinemia). 22796691 2012
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes. 21617188 2011
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE These results demonstrate that some dominant mutations of SUR1 can cause diazoxide-unresponsive hyperinsulinism. 21536946 2011
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 Biomarker disease BEFREE It has been known for some time that loss of function mutations in KCNJ11, which encodes for Kir6.2, and ABCC8, which encodes for SUR1, can cause oversecretion of insulin and result in hyperinsulinism of infancy, while activating mutations in KCNJ11 and ABCC8 have recently been described that result in the opposite phenotype of diabetes. 18767144 2009
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE Multiple mutations in Kir6.x and SUR genes have implicated K(ATP) channels in various diseases ranging from diabetes and hyperinsulinism to cardiac arrhythmias and cardiovascular disease. 19787700 2009
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE Here we report that two hyperinsulinism-associated SUR1 missense mutations, R74W and E128K, surprisingly reduce channel inhibition by intracellular ATP, a gating defect expected to yield the opposite disease phenotype neonatal diabetes. 19151370 2009
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE Loss- and gain-of-function mutations in the genes encoding the Kir6.2 and SUR1 subunits of this channel cause hyperinsulinism of infancy and neonatal diabetes, respectively. 20049716 2009
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE A combined immunohistochemistry and fluorescent in situ hybridization study on beta-cell interphase nuclei with probes covering two genes located in this region (ABCC8 and CDKN1C genes) was performed in four cases of focal forms of hyperinsulinism. 18796520 2008
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 Biomarker disease BEFREE Loss of function mutations in the KCNJ11 and ABCC8 genes that encode for Kir6.2 and SUR1 can cause over-secretion of insulin and result in hyperinsulinism of infancy, while gain of function mutations in KCNJ11 and ABCC8 have recently been described that result in the opposite phenotype of diabetes.Genetic testing is important for patients with hyperinsulinism or neonatal diabetes, as identification of a K(ATP) channel mutation confirms a diagnosis of their disorder. 18998097 2008
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence. 18390792 2008
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 Biomarker disease BEFREE Consistent with this paradigm, loss-of-function mutations in the genes (KCNJ11 and ABCC8) that encode the two subunits (Kir6.2 and SUR1, respectively) of the ATP-sensitive K(+) (K(ATP)) channel underlie hyperinsulinism in humans, a genetic disorder characterized by dysregulated insulin secretion. 17919182 2007
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE Although the absence of enlarged islet cell nuclei is a useful discriminant of focal hyperinsulinism associated with a paternal ABCC8 mutation, further research is needed to understand the pathophysiology of other histological abnormalities in patients with HI, which may have implications for mechanisms of ductal and islet cell proliferation. 17378627 2007
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 Biomarker disease BEFREE It has been known for some time that loss of function mutations in KCNJ11, which encodes for Kir6.2, and ABCC8, which encodes for SUR1, can cause oversecretion of insulin and result in hyperinsulinemia (HI) of infancy; however, heterozygous activating mutations in KCNJ11 that result in the opposite phenotype of diabetes have recently been described. 16416420 2006
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE An amniocentesis was performed at 16 weeks gestation at which time two mutations in the SUR1 gene were identified consistent with the diagnosis of diffuse hyperinsulinism. 16969006 2006
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). 16429405 2006
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease LHGDN Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 15562009 2005
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE In contrast to focal islet-cell hyperplasia, always sporadic to our knowledge, diffuse hyperinsulinism is a heterogeneous disorder involving several genes, various mechanisms of pathogenic mutations and different transmissions: (i) channelopathy involving the genes encoding the sulphonylurea receptor (SUR1) or the inward-rectifying potassium channel (Kir6.2) in recessively inherited HI or more rarely dominantly inherited HI; (ii) metabolic disorders implicating the short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) enzyme inrecessively inherited HI, the glucokinase gene (GK), the glutamate dehydrogenase gene (GLUD1) when hyperammonemia is associated, dominant exercise-induced HI with still-unknown mechanism, and more recently the human insulin receptor gene in dominantly inherited hyperinsulinism. 15868462 2005
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE We selected 15 hyperinsulinism of infancy patients and systematically sequenced the promoter and all coding exons and intron/exon boundaries of ABCC8 and KCNJ11. 15579781 2004
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE Recessive mutations of the ATP-dependent plasma membrane potassium channel (K(ATP)) genes, SUR1 and K(ir)6.2, cause diffuse hyperinsulinism. 14715863 2004
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 GeneticVariation disease BEFREE These results indicate that hyperinsulinism in this family is caused by a SUR1 mutation that is expressed dominantly rather than recessively. 12941782 2003