HNF1A, HNF1 homeobox A, 6927

N. diseases: 292; N. variants: 105
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Insulin-Dependent
0.700 Biomarker disease HPO
Diabetes Mellitus, Insulin-Dependent
0.700 GeneticVariation disease CLINVAR
Diabetes Mellitus, Insulin-Dependent
0.700 Biomarker disease GENOMICS_ENGLAND
Diabetes Mellitus, Insulin-Dependent
0.700 Biomarker disease CTD_human
Diabetes Mellitus, Insulin-Dependent
0.700 CausalMutation disease CLINVAR
Diabetes Mellitus, Insulin-Dependent
0.700 Biomarker disease GENOMICS_ENGLAND
Diabetes Mellitus, Insulin-Dependent
0.700 Biomarker disease BEFREE Coronary heart disease was more common in MODY3 than in IDDM (16 vs 4.5%; p < 0.02) but less common than in the older NIDDM patients (33.3%; p < 0.02). 9562352 1998
Diabetes Mellitus, Insulin-Dependent
0.700 Biomarker disease BEFREE The aim of this study was to estimate the prevalence of MODY 3 in antiislet autoantibody negative patients with type 1 diabetes. 10634407 2000
Diabetes Mellitus, Insulin-Dependent
0.700 GeneticVariation disease BEFREE We identified a novel frameshift mutation (142delG) in the TCF1 gene in a family with a strong family history of type 1 diabetes and examined the functional properties of the mutant HNF 1alpha. 11668618 2001
Diabetes Mellitus, Insulin-Dependent
0.700 Biomarker disease BEFREE The aim of this study was to determine the prevalence of mutations in the hepatocyte nuclear factor (HNF)-1alpha gene (TCF1) in a large group of Japanese patients with early-onset non-Type I (insulin-dependent) diabetes mellitus. 12488961 2002
Diabetes Mellitus, Insulin-Dependent
0.700 GeneticVariation disease BEFREE HNF-1alpha gene mutations (MODY3) present with marked hyperglycemia in lean young adults and may, therefore, be mistaken for type 1 diabetes, with implications for individual treatment and risk of diabetes in other family members. 12547858 2003
Diabetes Mellitus, Insulin-Dependent
0.700 GeneticVariation disease BEFREE Twenty-two families with clinical MODY, 15 families with suspected MODY, and one family with type 1 diabetes multiplex harbored HNF-1 alpha mutations. 12574234 2003
Diabetes Mellitus, Insulin-Dependent
0.700 GeneticVariation disease BEFREE The coexistence of type 1 diabetes autoimmunity and a mutation in the gene responsible for MODY3 in this overweight patient is intriguing and might explain the early onset of progressive insulinopenia compared with the later age of diabetes onset of the earlier generation in the family. 18221440 2008
Diabetes Mellitus, Insulin-Dependent
0.700 Biomarker disease BEFREE Pancreatic volume index was reduced in subjects with HNF1A-MODY (34.5 ml/m2; P < 0.02) and type 1 diabetes (21.4 ml/m2; P < 0.001) as compared with nondiabetic controls (45.7 ml/m2), and was reduced in subjects with diabetes in combination with fecal elastase deficiency (P = 0.03). 18593771 2008
Diabetes Mellitus, Insulin-Dependent
0.700 Biomarker disease BEFREE UCPCR was lower in type 1 diabetes than HNF1A/4A MODY (median [interquartile range]) (<0.02 nmol/mmol [<0.02 to <0.02] vs. 1.72 nmol/mmol [0.98-2.90]; P < 0.0001). 21270186 2011
Diabetes Mellitus, Insulin-Dependent
0.700 Biomarker disease BEFREE We measured plasma GAD and IA-2 antibodies in 508 patients with the most common forms of maturity-onset diabetes of the young (GCK: n = 227; HNF1A: n = 229; HNF4A: n = 52) and 98 patients with newly diagnosed Type 1 diabetes (diagnosed < 6 months). 21395678 2011
Diabetes Mellitus, Insulin-Dependent
0.700 GeneticVariation disease BEFREE By contrast, HNF1A mutations lead to a diabetes form that in severity, treatment and complication risk resembles Type 1 diabetes, although these patients may experience a good effect of sulfonylurea treatment. 21463240 2011
Diabetes Mellitus, Insulin-Dependent
0.700 Biomarker disease BEFREE Clinical applicability and cut-off value were evaluated in all available patients with GCK-MODY (n = 148), hepatocyte nuclear factor 1-alpha-MODY (HNF1A MODY) (n = 37) or type 1 diabetes (n = 221). 21521320 2011
Diabetes Mellitus, Insulin-Dependent
0.700 Biomarker disease BEFREE hs-CRP was lower in HNF1A-MODY (median [IQR] 0.3 [0.1-0.6] mg/L) than type 2 diabetes (1.40 [0.60-3.45] mg/L; P < 0.001) and type 1 diabetes (1.10 [0.50-1.85] mg/L; P < 0.001), HNF4A-MODY (1.45 [0.46-2.88] mg/L; P < 0.001), GCK-MODY (0.60 [0.30-1.80] mg/L; P < 0.001), and HNF1B-MODY (0.60 [0.10-2.8] mg/L; P = 0.07). hs-CRP discriminated HNF1A-MODY from type 2 diabetes with hs-CRP <0.75 mg/L showing 79% sensitivity and 70% specificity (receiver operating characteristic area under the curve = 0.84). 21700917 2011
Diabetes Mellitus, Insulin-Dependent
0.700 Biomarker disease BEFREE We initially examined 51 HNF1A-MODY patients, 56 subjects with type 1 diabetes (T1DM), 39 with type 2 diabetes (T2DM) and 43 non-diabetic individuals (ND) from Poland. 22350134 2013
Diabetes Mellitus, Insulin-Dependent
0.700 Biomarker disease BEFREE Apolipoprotein M can discriminate HNF1A-MODY from Type 1 diabetes. 23157689 2013
Diabetes Mellitus, Insulin-Dependent
0.700 Biomarker disease BEFREE This is the first report ever to describe the familial manifestation of T1DM autoimmunity in nonobese HNF1A-MODY subjects and the presence of islet antigen-2 (IA-2) antibodies in MODY subjects. 23548576 2013
Diabetes Mellitus, Insulin-Dependent
0.700 GeneticVariation disease BEFREE Small, potentially atherogenic HDL content differed significantly with the GCK-MODY group showing concentrations of that subfraction from control (p = 0.0096), T1DM (p = 0.0193) and HNF1A-MODY (p = 0.0057) groups. 24549415 2014
Diabetes Mellitus, Insulin-Dependent
0.700 GeneticVariation disease BEFREE For type 1 diabetes, a strong association was seen for MTNR1B (rs10830963, p = 3.2 × 10(-6)) and HNF1A (rs2650000, p = 0.0012). 24906951 2014
Diabetes Mellitus, Insulin-Dependent
0.700 GeneticVariation disease BEFREE A high frequency of MD from mutations in GCK/HNF1α may be identified among pediatric diabetic patients originally considered to have T1D by performing genetic testing on those patients with multiple clinical risk factors for MD. 25082184 2015