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: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.200 Biomarker disease BEFREE We assessed the contribution of hyperglycemia by comparing insulin sensitivity in control and GCK-MODY and the contribution of hyperinsulinemia by comparing GCK-MODY and type 1 diabetes. 31092478 2019
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.200 GeneticVariation disease BEFREE HNF1A and HNF4A mutations were identified in 5.9% (12 out of 204; HNF1A = 7, HNF4A = 5) of diazoxide-responsive HI probands. 29493090 2018
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.200 GeneticVariation disease BEFREE Early delivery is needed if the fetus inherits an HNF4A mutation from either parent because increased insulin secretion results in ~800-g weight gain in utero, and prolonged severe neonatal hypoglycaemia can occur post-delivery. 28556992 2017
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.200 Biomarker disease BEFREE HNF1β-MODY may present as β-cell dysfunction in Japanese rather than as hyperinsulinaemia, which it does among European/American. 24905847 2014
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.200 GeneticVariation disease BEFREE Our objective was to describe three novel cases of hyperinsulinism associated with MODY1 and MODY3 mutations. 22802087 2012
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.200 Biomarker disease BEFREE Obesity and hyperinsulinemia have been observed occasionally in other subtypes of MODY, which suggests that hyperinsulinemia may be a general phenomenon when obesity occurs in MODY subjects. 20621032 2010
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.200 AlteredExpression disease BEFREE We suggest that hyperinsulinemia represses Tcf gene expression in the pancreas. 20675304 2010
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.200 GeneticVariation disease BEFREE K(ATP) channel mutations were most common (15%) followed by GLUD1 mutations causing hyperinsulinism with hyperammonemia (5.9%), and HNF4A mutations (5%). 20164212 2010
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.200 AlteredExpression disease BEFREE These data indicate that hyperinsulinemia down-regulates HNF4alpha in the liver through the up-regulation of SREBPs, thereby establishing a link between these two critical transcription factor pathways that regulate lipid and glucose metabolism in the liver. 19179483 2009
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.200 Biomarker disease BEFREE This study establishes a key role for HNF4A in determining foetal birthweight, and uncovers an unanticipated feature of the natural history of HNF4A-deficient diabetes, with hyperinsulinaemia at birth evolving to decreased insulin secretion and diabetes later in life. 17407387 2007
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.200 CausalMutation disease CLINVAR
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.200 GeneticVariation disease CLINVAR