Disease: DEND syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4303593
Disease: DEND syndrome
DEND syndrome 		0.490 GeneticVariation disease BEFREE This study reports the first case of DEND syndrome in Korea caused by a KCNJ11 mutation and emphasizes the necessity to screen mutations in KATP channel genes in patients with neonatal diabetes. 28480665 2017
CUI: C4303593
Disease: DEND syndrome
DEND syndrome 		0.490 GeneticVariation disease BEFREE Successful transition from insulin to sulphonyl urea (SU) agents in patients with PNDM due to KCNJ11 mutations and in patients with intermediate DEND syndrome due to KCNJ11 mutation have been reported in the literature. 27849623 2016
CUI: C4303593
Disease: DEND syndrome
DEND syndrome 		0.490 Biomarker disease GENOMICS_ENGLAND A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus. 27181099 2016
CUI: C4303593
Disease: DEND syndrome
DEND syndrome 		0.490 GeneticVariation disease BEFREE Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation. 25678012 2015
CUI: C4303593
Disease: DEND syndrome
DEND syndrome 		0.490 GeneticVariation disease BEFREE This case suggests that not all Q52 mutations in the KCNJ11 gene are necessarily related to DEND syndrome. 24150202 2014
CUI: C4303593
Disease: DEND syndrome
DEND syndrome 		0.490 GeneticVariation disease BEFREE We have verified a lack of clinical response for both glycemic control and neurological features in an infant with permanent neonatal diabetes mellitus and DEND syndrome due to a V59A mutation in the KCNJ11 gene. 23382304 2013
CUI: C4303593
Disease: DEND syndrome
DEND syndrome 		0.490 GeneticVariation disease BEFREE AV59M KCNJ11 gene mutation leading to intermediate DEND syndrome in a Chinese child. 22145471 2011
CUI: C4303593
Disease: DEND syndrome
DEND syndrome 		0.490 GeneticVariation disease BEFREE Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr-old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM. 19686306 2010
CUI: C4303593
Disease: DEND syndrome
DEND syndrome 		0.490 GeneticVariation disease BEFREE Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene. 19169493 2008
CUI: C4303593
Disease: DEND syndrome
DEND syndrome 		0.490 GeneticVariation disease BEFREE The aim of this study was to determine the clinical effects, functional cause, and sensitivity to sulfonylurea treatment of a novel KCNJ11 mutation producing DEND syndrome. 17652641 2007
CUI: C4303593
Disease: DEND syndrome
DEND syndrome 		0.490 GeneticVariation disease CLINVAR