Disease: Hyperinsulinism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 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 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 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 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 Mutation analysis was carried out for 8 genes associated with HI (ABCC8, KCNJ11, GLUD1, GCK, HADH, HNF4A, HNF1A, and UCP2). 29493090 2018