PDX1, pancreatic and duodenal homeobox 1, 3651

N. diseases: 185; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Maturity onset diabetes mellitus in young
0.900 Biomarker disease BEFREE Important clinical findings were evidenced in some cases after genetic diagnosis, such as MODY-PDX1/HNF1B. 31595705 2019
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE In conclusion, a novel mutation site of MODY type 4 in the PDX1 gene was identified in a family with MODY, which may provide a basis for its clinical treatment. 31322178 2019
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE Maturity-Onset Diabetes of the Young (MODY) type 4 or PDX1 -MODY is a rare form of monogenic diabetes caused by heterozygous variants in PDX1 . 28436541 2018
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE Homozygous loss-of-function mutations in the gene coding for the homeobox transcription factor (TF) PDX1 leads to pancreatic agenesis, whereas heterozygous mutations can cause Maturity-Onset Diabetes of the Young 4 (MODY4). 29396371 2018
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE Homozygous loss-of-function mutations in the gene coding for the homeobox transcription factor PDX1 leads to pancreatic agenesis, whereas certain heterozygous point mutations are associated with Maturity-Onset Diabetes of the Young 4 (MODY4) and Type 2 Diabetes Mellitus (T2DM). 27879214 2016
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE Homozygous loss-of-function mutations in the gene coding for the homeobox transcription factor PDX1 leads to pancreatic agenesis, whereas certain heterozygous point mutations are associated with Maturity-Onset Diabetes of the Young 4 (MODY4) and Type 2 Diabetes Mellitus (T2DM). 27879211 2016
Maturity onset diabetes mellitus in young
0.900 GermlineCausalMutation disease ORPHANET The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. 22498247 2012
Maturity onset diabetes mellitus in young
0.900 Biomarker disease BEFREE Mutations in pancreatic duodenal homeobox 1 (PDX-1) can cause a monogenic form of diabetes (maturity onset diabetes of the young 4) in humans, and silencing Pdx-1 in pancreatic β-cells of mice causes diabetes. 22570331 2012
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE Mutations in NEUROD1, PDX1 (IPF1), CEL and INS are rare causes of MODY. 21521318 2011
Maturity onset diabetes mellitus in young
0.900 GermlineCausalMutation disease ORPHANET Review on monogenic diabetes. 21844708 2011
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE The aim of the study was to search for mutations in the NEUROD1 and IPF-1 genes in patients with clinical characteristics of maturity-onset diabetes of the young (MODY) but with no mutations in the HNF-4A (MODY1), GCK (MODY2) and TCF1 (MODY3) genes. 18331410 2008
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE MODY is both clinically and genetically heterogeneous, with six different genes identified to date; glucokinase (GCK), hepatocyte nuclear factor-1 alpha (HNF1A, or TCF1), hepatocyte nuclear factor-4 alpha (HNF4A), insulin promoter factor-1 (IPF1 or PDX1), hepatocyte nuclear factor-1 beta (HNF1B or TCF2), and neurogenic differentiation 1 (NEUROD1). 16917892 2006
Maturity onset diabetes mellitus in young
0.900 AlteredExpression disease BEFREE The majority of proteins associated with MODY are transcription factors, such as hepatocyte nuclear factor 4alpha (HNF-4alpha), HNF-1alpha, insulin promoter factor-1 (IPF-1), HNF-1beta, and NEUROD1. 15955369 2005
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE IPF1 mutations leading to synthesis of a mutant protein may contribute to the development of familial early-onset diabetes/maturity-onset diabetes of the young in Indo-Trinidadians. 14764823 2004
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE Recent studies showed that dominant negative mutations in the insulin promoter factor-1 (IPF-1), a pancreatic beta-cell specific transcription factor, cause maturity-onset diabetes of the young (MODY), a subtype of T2DM with early onset and monogenic autosomal inheritance. 15754742 2004
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE Mutations in pdx-1(ipf-1) are associated both with maturity-onset diabetes of the young and type 2 diabetes. 15001545 2004
Maturity onset diabetes mellitus in young
0.900 Biomarker disease MGD Increased islet apoptosis in Pdx1+/- mice. 12697734 2003
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE Heterozygosity for PDX-1 mutations was found in some individuals with a newly characterized subtype of maturity-onset diabetes of the young (MODY4) and in others with type 2 DM. 12503852 2003
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE Interestingly, functional variants of the MODY 4 gene (insulin promoter factor-1) have been associated with both MODY and the common form of type 2 diabetes. 11994901 2002
Maturity onset diabetes mellitus in young
0.900 Biomarker disease BEFREE The relative distribution of the 90 families fitting maturity-onset diabetes of the young (MODY) criteria was 63% HNF-1alpha, 2% HNF-4alpha, 0% IPF-1, 1% HNF-1beta, 0% NeuroD1/ BETA2, and 20% glucokinase. 11272211 2001
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE We demonstrate the significance of this alternative promoter in a large MODY family where a mutated IPF-1 binding site in the P2 promoter of the HNF-4alpha gene co-segregates with diabetes (LOD score 3.25). 11590126 2001
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE MODY is genetically heterogeneous with five different genes identified to date: hepatocyte nuclear factor-4 alpha (HNF-4 alpha) [MODY1]; glucokinase [MODY2]; hepatocyte nuclear factor-1 alpha (HNF-1 alpha) [MODY3]; insulin promoter factor-1 (IPF-1) [MODY4]; and hepatocyte nuclear factor-1 beta (HNF-1 beta) [MODY5]. 11058894 2000
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE We conclude that variants in IPF-1 are not a common cause of MODY or late-onset type 2 diabetes in the Caucasian population, and that in terms of insulin transcription both the N76 and the T140 mutations are likely to represent functionally normal IPF-1 variants with no direct role in the pathogenesis of MODY or late-onset type 2 diabetes mellitus. 10720084 2000
Maturity onset diabetes mellitus in young
0.900 Biomarker disease BEFREE Mutations in the transcription factors hepatocyte nuclear factor (HNF)-4alpha and -1alpha, insulin promoter factor-1, and HNF-1beta are the causes of four forms of maturity-onset diabetes of the young (MODY1 and 3-5, respectively). 10868948 2000
Maturity onset diabetes mellitus in young
0.900 Biomarker disease BEFREE The coding regions of the known MODY genes hepatocyte nuclear factor (HNF)-1alpha, HNF-4alpha, HNF-1beta, and insulin promoter factor 1 and the coding regions of two MODY candidate genes, HNF-3beta and the dimerization cofactor of HNF-1, were sequenced in genomic DNA from Pima Indians. 10868855 2000