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 GeneticVariation disease BEFREE We have described a dominant heterozygous mutation--E1506K--in the sulfonylurea receptor 1 (SUR1) gene (ABCC8) in a Finnish family, which leads to congenital hyperinsulinaemia due to reduction of K(ATP)-channel activity. 12559865 2003
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.100 GeneticVariation disease BEFREE SUR1 or Kir6.2 mutations were found in six of seven focal adenomatous hyperplasia and three of five diffuse hyperinsulinism. 12210338 2002
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.100 GeneticVariation disease BEFREE The four known genetic causes for inborn hyperinsulinism (mutations in the genes ABCC8, KCNJ11, GLUD1, and GCK) were excluded. 12400064 2002
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.100 GeneticVariation disease BEFREE The diminished glucose responsiveness suggests that SUR1 mutations and lack of KATP channel activity may contribute to the late development of diabetes in patients with hyperinsulinism independently of subtotal pancreatectomy. 11272143 2001
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.100 GeneticVariation disease BEFREE Most cases of hyperinsulinism of infancy (HI) are caused by mutations in either the sulfonylurea receptor-1 (SUR1) or the inward rectifying K(+) channel Kir6.2, two subunits of the beta-cell ATP-sensitive K(+) channel (K(ATP) channel). 11723059 2001
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.100 GeneticVariation disease BEFREE Usher type 1C maps to the region containing the genes ABCC8 and KCNJ11 (encoding components of ATP-sensitive K + (KATP) channels), which may be mutated in patients with hyperinsulinism. 10973248 2000
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.100 Biomarker disease BEFREE The intravenous CaAIR is a safe and simple test for identifying infants with diffuse SUR1(-/-) hyperinsulinism or with focal congenital hyperinsulinism. 10931418 2000
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.100 GeneticVariation disease BEFREE The A-allele of a single nucleotide polymorphism (SNP) in exon 31 of the SUR1 gene (AGG-->AGA; Arg1273Arg) has previously been shown to be associated with hyperinsulinemia in nondiabetic Mexican-American subjects. 11030411 2000
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.100 GeneticVariation disease BEFREE A reduction to homozygosity of an SUR-1 mutation is proposed as a critical part of the cause of focal hyperinsulinism. 10193261 1998
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.100 GeneticVariation disease BEFREE Since we have previously reported linkage between SUR1 and hyperglycemia, the present association between a SUR1 variant and hyperinsulinemia in normal individuals from a high diabetes risk ethnic group raises the possibility of primary insulin hypersecretion as an antecedent of type 2 diabetes in at least some individuals from this population. 9799081 1998
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.100 GeneticVariation disease BEFREE Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. 9769320 1998
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.100 GeneticVariation disease BEFREE Mutations in the SUR1 subunit are associated with familial hyperinsulinism (HI) (MIM:256450), an inherited disorder characterized by hyperinsulinism in the neonate. 9356020 1997