HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Disease: Monogenic diabetes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 Biomarker disease BEFREE GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants. 31063852 2019
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 GeneticVariation disease BEFREE Almost 20 years after the first report of NEUROD1-MODY, only a few families in Europe and Asia had shown mutations in NEUROD1 as the cause of monogenic diabetes. 31578821 2019
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 GeneticVariation disease BEFREE Maturity onset diabetes of the young due to <i>HNF1A</i> mutations (HNF1A-MODY) is the most frequent form of monogenic diabetes in adults. 29666556 2018
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 GeneticVariation disease BEFREE Hyperinsulinemic glucose clamps were performed to examine counter-regulatory responses to controlled hypoglycemic challenges created in humans with monogenic diabetes resulting from heterozygous glucokinase mutations (GCK-MODY). 30146176 2018
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 GeneticVariation disease BEFREE Most (6/7) patients with HNF4A variants rapidly failed TODAY treatment across study arms (hazard ratio = 5.03, P = 0.0002), while none with GCK variants failed treatment.ConclusionThe finding of 4.5% of patients with monogenic diabetes in an overweight/obese cohort of children and adolescents with T2D suggests that monogenic diabetes diagnosis should be considered in children and adolescents without diabetes-associated autoantibodies and maintained C-peptide, regardless of BMI, as it may direct appropriate clinical management. 29758564 2018
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 GeneticVariation disease BEFREE The true frequency of MD in the overall population may be higher given later onset of reportedly more frequent types of MD than GCK -MODY. 28436179 2018
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 Biomarker disease BEFREE MODY1 is a maturity-onset monogenic diabetes, caused by heterozygous mutations of the HNF4A gene. 28684784 2017
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 Biomarker disease BEFREE Glucokinase monogenic diabetes (GCK-maturity-onset diabetes of the young [MODY]) should be differentiated from gestational diabetes mellitus (GDM) because management differs. 26109503 2016
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 Biomarker disease BEFREE GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated. 27106716 2016
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 GeneticVariation disease BEFREE The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes. 27486234 2016
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 GeneticVariation disease BEFREE Rare and non-silent variants in 29 genes known to cause monogenic diabetes, including 12 maturity-onset diabetes of the young (MODY) genes, were investigated for pathogenicity. 27810688 2016
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 AlteredExpression disease BEFREE In Central Europe, 17-25% of patients with monogenic diabetes (maturity-onset diabetes of the young, MODY) transiently express islet cell autoantibodies. 25896041 2015
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 GeneticVariation disease BEFREE The study group included 129 children with GCK-MODY from the Polish Registry of Monogenic Diabetes and 395 with type 1 diabetes (T1DM), in whom we genotyped 2 SNPs in G6PC2 (rs560887) and GCKR (rs1260326). 24918535 2014
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 Biomarker disease CLINGEN Parents were screened for HNF4A mutations post-diagnosis and one father was subsequently found to have maturity-onset diabetes of the young. 23796040 2014
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 GeneticVariation disease BEFREE Finally, we searched the Norwegian MODY Registry for children with genetically verified MD. 23624530 2013
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 Biomarker disease BEFREE The prevalence of MD was stable at between 4.2 and 4.6/100,000 children, accounting for 3.1-4.2% of children with diabetes, with glucokinase (GCK)-MODY being the most frequent type, amounting to 83% of patients with MD. 22782286 2012
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 GeneticVariation disease BEFREE Inactivating mutations in HNF1A and HNF4A cause the maturity-onset diabetes of youth (MODY)-3 and MODY1 forms of monogenic diabetes, respectively. 22802087 2012
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 GeneticVariation disease BEFREE We determined the rs560887 genotype of patients with monogenic diabetes and glucokinase gene mutations (GCK-MODY) and correlated the genotypes with HbA(1c) levels. 22486180 2012
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 Biomarker disease CLINGEN Here we report the identification of MED25 as one of the HNF4α binding partners in pancreatic ß-cells leading to insulin secretion which is impaired in MODY patients. 22952853 2012
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 Biomarker disease BEFREE HDL cholesterol levels measured in individuals with likely monogenic diabetes may be useful in screening for GCK-MODY and differentiation from T1DM and HNF1A-MODY, regardless of treatment or metabolic control. 21521320 2011
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 Biomarker disease CLINGEN The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY). 20164212 2010
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 GeneticVariation disease BEFREE Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene. 19566570 2009
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 GeneticVariation disease BEFREE The most frequently diagnosed forms of monogenic diabetes are MODY, mitochondrial diabetes, permanent and transient neonatal diabetes (PNDM and TNDM). 19010562 2008
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 Biomarker disease BEFREE This concept, first advanced with the discovery and physiological characterisation of various genetic subtypes of MODY, has been extended to other forms of monogenic diabetes (e.g. neonatal diabetes). 18504548 2008
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.600 Biomarker disease CLINGEN Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. 17407387 2007