Disease: Hypoglycemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.400 GeneticVariation disease BEFREE Sixteen family members carried the ABCC8 or KCNJ11 mutations; only two had hypoglycemia detected at birth and four others reported symptoms of hypoglycemia. 31464105 2019
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.400 Biomarker disease BEFREE A unique allosteric insulin receptor monoclonal antibody that prevents hypoglycemia in the SUR-1<sup>-/-</sup> mouse model of KATP hyperinsulinism. 29589989 2018
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.400 GeneticVariation disease BEFREE Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 25720052 2015
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.400 GeneticVariation disease BEFREE Congenital hyperinsulinemic hypoglycemia (HI) is a heterogeneous genetic disorder of insulin secretion characterized by persistent hypoglycemia, most commonly associated with inactivating mutations of the β-cell ATP-sensitive K(+) channel (K(ATP) channel) genes ABCC8 (encoding SUR1) and KCNJ11(encoding Kir6.2). 25117148 2014
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.400 GeneticVariation disease BEFREE Here, we report a family carrying the dominant heterozygous germ line E1506K mutation in ABCC8 associated with persistent hypoglycemia in the newborn period and diabetes in adulthood. 20042013 2010
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.400 GeneticVariation disease LHGDN Glucose intolerance and diabetes are observed in the long-term follow-up of nonpancreatectomized patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene. 18339976 2008
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.400 Biomarker disease RGD These studies demonstrate in a variety of rodent models that systemic delivery of Kir6.2/SUR-1-selective KCOs enhance the glucose counterregulatory response to insulin-induced hypoglycemia. 18776135 2008
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.400 GeneticVariation disease BEFREE Leucine-sensitive hypoglycemia in this family was found to result from a dominantly expressed SUR1 mutation. 15356046 2004
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.400 GeneticVariation disease LHGDN ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures. 12199344 2003
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.400 GeneticVariation disease BEFREE We conclude that the heterozygous carriers of the SUR1 mutation had normal glucose metabolism and insulin secretion, indicating that carriers of recessive K(ATP) channel mutations are unlikely to be at an increased risk of hypoglycemia or other disturbances in glucose metabolism. 11772909 2002
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.400 Biomarker disease BEFREE Mutations in the genes encoding Kir6.2 and SUR1 may result in familial persistent hyperinsulinemic hypoglycaemia of infancy, demonstrating their role in the regulation of insulin secretion. 11938023 2002
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.400 GeneticVariation disease BEFREE Mutations in both the Kir6.2 and SUR1 genes are associated with persistent hyperinsulinemic hypoglycemia of infancy (PHHI), a disorder of pancreatic beta-cell function characterized by excess insulin secretion and hypoglycemia. 9648840 1998
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.400 GeneticVariation disease CLINVAR
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.400 Biomarker disease HPO