|
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
|
16885549 |
2006 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In insulin-treated patients who matched the clinical criteria for PNDM, the KCNJ11 or ABCC8 genes were sequenced, and mutation carriers were invited for replacement of insulin with SU.
|
17213273 |
2007 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the KCNJ11 and ABCC8 genes encoding the pancreatic beta-cell K(ATP) channel have recently been shown to be the most common cause of permanent neonatal diabetes mellitus (PNDM).
|
17213273 |
2007 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in KCNJ11, ABCC8, or INS are the cause of permanent neonatal diabetes mellitus in about 50% of patients diagnosed with diabetes before 6 months of age and in a small fraction of those diagnosed between 6 and 12 months.
|
18662362 |
2008 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Patients with PNDM due to a heterozygous activating mutation in the ABCC8 gene encoding the SUR1 regulatory subunit of the K(ATP) channel have recently been reported.
|
17668386 |
2007 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with PNDM due to a heterozygous activating mutation in the ABCC8 gene encoding the SUR1 regulatory subunit of the K(ATP) channel have recently been reported.
|
17668386 |
2007 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Some other forms of monogenic diabetes associated with impaired function of the beta-cell, such as MODY3 and PNDM linked to mutations in Kir6.2 and SUR1 genes, can be successfully managed by sulphonylurea agents.
|
17488343 |
2008 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
|
16613899 |
2006 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation.
|
22306677 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the KCNJ11 and ABCC8 genes that encode the pancreatic K(ATP) channel are the commonest cause of permanent neonatal diabetes mellitus (PNDM).
|
22859427 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the long-term follow-up results of two siblings with PNDM who were treated with insulin until ABCC8 gene mutation was identified, and were successfully transferred to oral SU therapy.
|
22672870 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations of the ABCC8 gene can lead to permanent neonatal diabetes mellitus (PNDM).
|
22768668 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in KATP channel genes (KCNJ11, ABCC8) and the insulin gene (INS) are the most common causes of PNDM.
|
23050777 |
2013 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
ABCC8 mutations cause PNDM, TNDM or permanent diabetes diagnosed outside the neonatal period.
|
17919176 |
2007 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in KCNJ11, ABCC8, or INS are the cause of permanent neonatal diabetes mellitus in about 50%-60% of the patients.
|
21823539 |
2011 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
|
16885549 |
2006 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report the successful transition from insulin to SU in two Iraqi siblings with PNDM due to ABCC8 mutation, one with iDEND.
|
27849623 |
2016 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM).
|
17317760 |
2007 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Meta-analysis of all case-control data showed that the E23K allele was associated with type 2 diabetes (K allele OR 1.23 [1.12-1.36], P = 0.000015; KK genotype 1.65 [1.34-2.02], P = 0.000002); but the ABCC8 variants were not associated.
|
12540637 |
2003 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the polymorphisms of the SUR1 gene predicted the conversion from impaired glucose tolerance to type 2 diabetes and that the effect of these polymorphisms on diabetes risk was additive with the E23K polymorphism of the Kir6.2 gene.
|
15579791 |
2004 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program.
|
17259403 |
2007 |