HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Disease: Fanconi Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome 		0.030 GeneticVariation disease BEFREE The p.R63W mutation in the hepatocyte nuclear factor-4 alpha (HNF4A) results in macrosomia and atypical Fanconi syndrome, in addition to hyperinsulinaemic hypoglycaemia (HI). 27245055 2016
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome 		0.030 GeneticVariation disease BEFREE The HNF4A p.R76W mutation causes congenital hyperinsulinism with Fanconi syndrome. 25819479 2015
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome 		0.030 GeneticVariation disease BEFREE We report six patients heterozygous for the p.R76W HNF4A mutation who have Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. 24285859 2014