HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Unilateral renal agenesis and abrupt onset diabetes: an unfrequent form of MODY type diabetes. 29525113 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE HNF4α (hepatocyte nuclear factor 4α) is one of the master regulators of pancreatic β-cell development and function, and mutations in the <i>HNF4</i>α gene are well-known monogenic causes of diabetes. 31362984 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE For example, the HNF4A c.340C>T (p.Arg114Trp) (GenBank: NM_175914.4) variant associated with diabetes is <10% penetrant by the time an individual is 40 years old. 30665703 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE This case raises the question as to whether hyperglycaemia in GCK-MODY may increase the risk of fetal caudal regression syndrome as reported in women with pre-existing diabetes mellitus. 30362177 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Monogenic forms of diabetes like MODY and neonatal diabetes have paved the way for precision medicine in diabetes, as carriers of unique mutations require unique treatment. 30403316 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Furthermore, studies of N-glycan alterations have successfully been used to identify individuals with rare types of diabetes (such as the HNF1A-MODY), and also to evaluate functional significance of novel diabetes-associated mutations. 31215021 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE We here identified a missense mutation (c.773G>A, p.R258H) of HNF4A in a mother and daughter with early-onset diabetes and impaired insulin secretion. 30325586 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Mutations in the genes encoding the pancreatic K<sub>ATP</sub> channels can also lead to different types of diabetes (including neonatal diabetes mellitus (NDM) and Maturity Onset Diabetes of the Young, MODY), and defects in the solute carrier family 2 member 2 (<i>SLC2A2</i>) leads to diabetes mellitus as part of the Fanconi-Bickel syndrome. 31137773 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE HNF4α is a culprit gene product for a monogenic and dominantly-inherited form of diabetes, referred to as MODY1 (Maturity Onset Diabetes of the Young type 1). 30648609 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE We examined a total of 275 subjects having diabetes suspected to be MODY who were negative for mutations in MODY1-5 referred from 155 medical institutions throughout Japan. 28664602 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Accurate genetic diagnosis directs management, such as no pharmacologic treatment for GCK-MODY, low-dose sulfonylureas for HNF1A-MODY and HNF4A-MODY, and high-dose sulfonylureas for K<sub>ATP</sub> channel-related diabetes. 29450745 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Subjects (N = 97) with diabetes onset ≤age 25, measurable C-peptide (≥0.1 ng/mL), and negative for all four diabetes autoantibodies were enrolled at a large academic center and tested for MODY 1-5 through Athena Diagnostics. 29355436 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Eleven children with asymptomatic hyperglycemia and clinically suspected GCK-MODY were identified from the database of children with diabetes in the biggest children's hospital in South China. 29510678 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE In those with HNF1A/HNF4A-MODY, a shorter diabetes duration, lower HbA<sub>1c</sub> and lower BMI at genetic diagnosis predicted successful treatment with sulfonylurea/diet alone, supporting the need for early genetic diagnosis and treatment change. 30229274 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group 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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE MODY is an early-onset monogenic form of diabetes. 28132100 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE However, there are minimal data available on MODY gene variants in pregnant women with diabetes from India. 28095440 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE A total of 40 individuals with diabetes (1.8% of early onset sub-group and 0.6% of adult onset sub-group) were carriers of known pathogenic missense variants in the GCK, HNF1A, HNF4A, ABCC8, and INS genes. 29207974 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE We aimed to find the prevalence of MODY in a nationwide population-based registry of childhood diabetes. 27913849 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 AlteredExpression group BEFREE Rats with STZ-induced diabetes who received GWBR supplementation exhibited decreased expression of sodium-dependent glucose transporter 1 (SGLT1) and glucose transporter (GLUT) 2 genes and proteins in the small intestine via decreases in hepatocyte nuclear factor (HNF)-1α, HNF-1β, and HNF-4α, transcriptional factors that are involved in the regulation of SGLT1 and GLUT2, compared with the rats with STZ-induced diabetes that did not receive GWBR supplements. 29093331 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE In children and adolescents with diabetes, the presence of 2 risk alleles (DR3 and/or DR4) reduces the probability of MODY diagnosis, whereas the lack of risk alleles increases it. 28052112 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Association of MODY genetic variants with diabetes incidence at a median of 3 years and measures of 1-year β-cell function, insulinogenic index, and oral disposition index. 28453780 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE These results suggest that functional characterization of variants within MODY genes may overcome the limitations of bioinformatics tools for the purposes of presymptomatic diabetes risk prediction in the general population. 27899486 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE GCK-MODY carriers were found in a frequency of 3% among 1043 diabetes mellitus (DM) patients and constituted the second most numerous group of DM patients, following type 1 DM, in our centre. 28663157 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Mutations in HNF4α cause Mature-Onset Diabetes of the Young I (MODYI), a subset of diabetes characterized by diminished GSIS. 26792861 2016