|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The most common genetic cause of permanent neonatal diabetes mellitus is activating mutations in KCNJ11, which can usually be treated using oral sulfonylureas (SUs) instead of insulin injections, although some mutations are SU unresponsive.
|
27802092 |
2017 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium channel (K(ATP)), are the commonest cause of permanent neonatal diabetes (PNDM).
|
15718250 |
2005 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We conclude that KCNJ11 mutations are a common cause of PNDM either in isolation or associated with developmental delay.
|
15580558 |
2005 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular basis for Kir6.2 channel inhibition by adenine nucleotides.
|
12524280 |
2003 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensitive (K(ATP)) channel, cause permanent neonatal diabetes mellitus (PNDM).
|
15583126 |
2004 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels.
|
22311976 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a 18-month follow-up of switching from insulin to SU in a mother and her daughter with PNDM due to KCNJ11 mutation.
|
21871684 |
2011 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.
|
15562009 |
2005 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus.
|
24468099 |
2014 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In summary, the switch from insulin therapy to SU treatment in PNDM related to KCNJ11 mutations was found to be an efficient and safe therapeutic method over a period of 34-month median follow-up.
|
20184447 |
2010 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
|
17446535 |
2007 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
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 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous activating mutations in the KCNJ11 gene encoding the pore-forming Kir6.2 subunit of the pancreatic beta cell K(ATP) channel are the most common cause of permanent neonatal diabetes (PNDM).
|
17668386 |
2007 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Unsuccessful switch from insulin to sulfonylurea therapy in permanent neonatal diabetes mellitus due to an R201H mutation in the KCNJ11 gene: a case report.
|
23434183 |
2013 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic defects have been identified in∼60% of cases, with mutations in ABCC8, KCNJ11 and INS being the most frequent causes of PNDM.
|
23562494 |
2013 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Permanent neonatal diabetes mellitus (PNDM) in European population has an incidence of at least 1 in 260 000 live births and is most commonly due to mutations in KCNJ11 and ABCC8.
|
22060631 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We aimed to compare sulfonylurea therapy with insulin treatment in two sulfonylurea-sensitive individuals with a KCNJ11 mutation who had poorly controlled permanent neonatal diabetes mellitus.
|
29278452 |
2018 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
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 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although PNDM is a rare phenomenon (one case in about 200,000 live births), this discovery has had a large impact on clinical practice as most carriers of KCNJ11 and ABCC8 gene mutations have been switched from insulin to oral sulphonylureas with an improvement in glycemic control.
|
21054355 |
2011 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.
|
17855752 |
2007 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.
|
21422196 |
2011 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recessive EIF2AK3 gene mutations were the commonest cause of PNDM in the Arab cohort (22.7%) followed by INS (12.5%), and KCNJ11 and GCK (5.7% each), whereas K(ATP) channel mutations were the commonest cause (29.9%) in the British cohort.
|
22859427 |
2012 |