Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
Developmental Delay, Epilepsy, and Neonatal Diabetes 		0.360 Biomarker disease BEFREE Genetic mutations in KCNJ11 or ABCC8 which encode Kir6.2 and SUR1 respectively are major causes of insulin secretion disorders: those causing loss of channel function lead to congenital hyperinsulinism, whereas those causing gain of channel function result in neonatal diabetes and in some cases developmental delay, epilepsy, and neonatal diabetes, referred to as the DEND syndrome. 29058186 2018
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
Developmental Delay, Epilepsy, and Neonatal Diabetes 		0.360 GeneticVariation disease BEFREE To our knowledge, the successful transition of PNDM with DEND due to ABCC8 mutation has only been reported only once before in the literature. 27849623 2016
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
Developmental Delay, Epilepsy, and Neonatal Diabetes 		0.360 GeneticVariation disease BEFREE Gain of channel function (GOF) mutations in the genes encoding Kir6.2 (KCNJ11) or the associated regulatory ssulfonylurea receptor 1 subunit (ABCC8), cause developmental delay, epilepsy and neonatal diabetes (DEND) due to suppressed cell excitability in pancreatic β-cells and neurons. 23667671 2013
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
Developmental Delay, Epilepsy, and Neonatal Diabetes 		0.360 GermlineCausalMutation disease ORPHANET The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. 22498247 2012
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
Developmental Delay, Epilepsy, and Neonatal Diabetes 		0.360 GermlineCausalMutation disease ORPHANET Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation. 21109997 2011
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
Developmental Delay, Epilepsy, and Neonatal Diabetes 		0.360 GeneticVariation disease BEFREE We compared Kir6.x/SUR1 channels carrying the V59G substitution, a cause of the developmental delay, epilepsy, and neonatal diabetes syndrome, with a V59A substitution and the equivalent I60G mutation in the related Kir6.1 subunit from vascular smooth muscle. 19139106 2009
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
Developmental Delay, Epilepsy, and Neonatal Diabetes 		0.360 GeneticVariation disease BEFREE Whereas Kir6.2 mutations are a common cause of permanent neonatal diabetes and in a few cases associate with the DEND (developmental delay, epilepsy, and neonatal diabetes) syndrome, SUR1 mutations are more frequent in transient (52%) compared with permanent (14%) neonatal diabetes cases screened for ABCC8 in our series. 17389331 2007
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
Developmental Delay, Epilepsy, and Neonatal Diabetes 		0.360 GeneticVariation disease BEFREE We identified a novel heterozygous mutation, F132L, in the ABCC8 gene of a patient with severe developmental delay, epilepsy and neonatal diabetes (DEND syndrome). 16613899 2006