Type 4 Maturity-Onset Diabetes of the Young

mutation in PDX1 gene

Also Known As:

Maturity-Onset Diabetes of the Young, Type 4; MODY, Type 4; MODY4

Networked: 27 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Glucose Metabolism Disorders: 375
    - Diabetes Mellitus: 56563
      - Type 2 Diabetes Mellitus: 95492
        Type 4 Maturity-Onset Diabetes of the Young: 27
Endocrine System Diseases: 968
- Diabetes Mellitus: 56563
  - Type 2 Diabetes Mellitus: 95492
    - Type 4 Maturity-Onset Diabetes of the Young: 27

Related Diseases

1.	Type 2 Diabetes Mellitus (MODY)
2.	Type 1 Maturity-Onset Diabetes of the Young
3.	Type 2 Maturity-Onset Diabetes of the Young
4.	Type 3 Maturity-Onset Diabetes of the Young
5.	Mason-Type Diabetes

Experts

1.	Stoffers, Doris A: 4 articles (11/2009 - 08/2002)
2.	Burtscher, Ingo: 3 articles (01/2018 - 01/2016)
3.	Chen, Shen: 3 articles (01/2018 - 01/2016)
4.	Hieronimus, Anja: 3 articles (01/2018 - 01/2016)
5.	Häring, Hans-Ulrich: 3 articles (01/2018 - 01/2016)
6.	Lederer, Gabriele: 3 articles (01/2018 - 01/2016)
7.	Lickert, Heiko: 3 articles (01/2018 - 01/2016)
8.	Machicao, Fausto: 3 articles (01/2018 - 01/2016)
9.	Meitinger, Thomas: 3 articles (01/2018 - 01/2016)
10.	Staiger, Harald: 3 articles (01/2018 - 01/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type 4 Maturity-Onset Diabetes of the Young:

1.	IncretinsIBA 01/01/2015 - "Genetic analysis revealed a novel nonsense mutation in the PDX1 gene, consistent with MODY type 4. Given this patient's particular genetic mutation affecting the incretin pathway, sitagliptin was substituted for glyburide, which led to significant improvement in glycemic control. "
2.	Nonsense Codon (Nonsense Mutation)IBA 01/01/2015 - "Genetic analysis revealed a novel nonsense mutation in the PDX1 gene, consistent with MODY type 4. Given this patient's particular genetic mutation affecting the incretin pathway, sitagliptin was substituted for glyburide, which led to significant improvement in glycemic control. "
3.	Glyburide (Glibenclamide)FDA LinkGeneric 01/01/2015 - "Genetic analysis revealed a novel nonsense mutation in the PDX1 gene, consistent with MODY type 4. Given this patient's particular genetic mutation affecting the incretin pathway, sitagliptin was substituted for glyburide, which led to significant improvement in glycemic control. "
4.	Sitagliptin Phosphate (Januvia)FDA Link 01/01/2015 - "Genetic analysis revealed a novel nonsense mutation in the PDX1 gene, consistent with MODY type 4. Given this patient's particular genetic mutation affecting the incretin pathway, sitagliptin was substituted for glyburide, which led to significant improvement in glycemic control. "
5.	Insulin (Novolin)FDA Link 01/01/2014 - "Lastly, transient SOX17 overexpression was able to reverse the insulin secretory defects observed in MODY4 animals and restored euglycemia. " 06/01/2007 - "Mutations in the IPF1 gene cause MODY4; IPF1 D76N is a polymorphism, which inhibits the insulin promoter and decreases insulin-secretion. " 08/01/2005 - "Genetic variation in insulin promoter factor-1 (IPF1) (MODY4) is uncommon but may contribute to early- or late-onset diabetes as part of a polygenic background. " 12/25/2009 - "Pdx-1 (pancreatic-duodenal homeobox-1), a MODY4 homeodomain transcription factor, serves as a master regulator in the pancreas because of its importance during organogenesis and in adult islet insulin-producing beta cell activity. " 12/01/2009 - "MODY4 results from a mutation in the insulin promoter factor-1 (IPF-1) gene, a transcription factor which regulates the transcription of insulin. "
6.	Transcription Factors (Transcription Factor)IBA 01/01/2018 - "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). " 11/10/2009 - "Heterozygous mutations in the gene encoding the beta cell transcription factor pancreatic duodenal homeobox 1 (Pdx1) are associated with both T2DM and maturity onset diabetes of the young (MODY4), and low levels of Pdx1 accompany beta cell dysfunction in experimental models of glucotoxicity and diabetes. " 08/01/2009 - "Mutations in the transcription factor Pdx1 cause maturity-onset diabetes of the young 4 (MODY4). " 01/01/2016 - "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). " 01/01/2016 - "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). "
7.	GlucokinaseIBA 05/01/2002 - "Homozygous mutations of the IPF1/PDX1 (MODY4) and of the Glucokinase (GK, MODY2) genes have been reported. " 02/01/2001 - "This form of diabetes can result from mutations in at least seven different genes: hepatocyte nuclear factor(HNF)-4 alpha/MODY1, glucokinase/MODY2, HNF-1 alpha/MODY3, insulin promoter factor(IPF-1)/MODY4, HNF-1 beta/MODY5, NeuroD1/MODY6 and Islet(Isl)-1/MODY7. " 11/01/2000 - "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]. " 07/01/1999 - "To date, mutations in genes of five proteins have been shown to cause MODY: glucokinase (MODY2), hepatic nuclear factor-1 alpha (HNF-1 alpha) (MODY3), hepatic nuclear factor-4 alpha (HNF-4 alpha) (MODY1), insulin promoter factor 1 (IPF-1) (MODY4) and hepatic nuclear factor-1 beta (HNF-1 beta) (MODY5), but other MODY genes still await elucidation. " 09/01/1998 - "To date five MODY genes have been identified: hepatocyte nuclear factor-4 alpha (HNF-4alpha/MODY1/TCF14) on chromosome 20q, glucokinase (GCK/MODY2) on chromosome 7p, hepatocyte nuclear factor-1 alpha (HNF-1alpha/MODY3/TCF1) on chromosome 12q, insulin promoter factor-1 (IPF1/MODY4) on chromosome 13q and hepatocyte nuclear factor-1 beta (HNF-1beta/MODY5/TCF2) on chromosome 17cen-q. "
8.	Hepatocyte Nuclear Factor 1-betaIBA 09/15/2001 - "HNF-4alpha (MODY1), HNF-1alpha (MODY3), IPF-1 (also known as PDX-1, MODY4) and HNF-1beta (MODY5). " 08/01/2000 - "Mutations in hepatocyte nuclear factor-4alpha, hepatocyte nuclear factor-1alpha, insulin promoter factor-1 and hepatocyte nuclear factor-1beta, respectively, cause MODY1, MODY3, MODY4, and MODY5. " 09/01/1998 - "To date five MODY genes have been identified: hepatocyte nuclear factor-4 alpha (HNF-4alpha/MODY1/TCF14) on chromosome 20q, glucokinase (GCK/MODY2) on chromosome 7p, hepatocyte nuclear factor-1 alpha (HNF-1alpha/MODY3/TCF1) on chromosome 12q, insulin promoter factor-1 (IPF1/MODY4) on chromosome 13q and hepatocyte nuclear factor-1 beta (HNF-1beta/MODY5/TCF2) on chromosome 17cen-q. " 05/01/1999 - "To date, five proteins have been identified whose genetic absence or impairment causes MODY, the enzyme glucokinase (GCK/MODY2) and four transcription factors: hepatocyte nuclear factor 4alpha (HNF-4alpha/MODY1), HNF-1alpha/MODY3, insulin promoter factor 1 (IPF-1/MODY4) and HNF-1beta/MODY5. "
9.	Proteins (Proteins, Gene)FDA Link 05/01/2004 - "Identification of PCIF1, a POZ domain protein that inhibits PDX-1 (MODY4) transcriptional activity." 06/15/2005 - "Bridge-1 also interacts with wild-type and mutant human PDX-1 (IPF-1) proteins and strongly interacts with the amino-terminal PDX-1 P63fsdelC (MODY4) mutant protein. " 07/01/1999 - "To date, mutations in genes of five proteins have been shown to cause MODY: glucokinase (MODY2), hepatic nuclear factor-1 alpha (HNF-1 alpha) (MODY3), hepatic nuclear factor-4 alpha (HNF-4 alpha) (MODY1), insulin promoter factor 1 (IPF-1) (MODY4) and hepatic nuclear factor-1 beta (HNF-1 beta) (MODY5), but other MODY genes still await elucidation. " 05/01/1999 - "To date, five proteins have been identified whose genetic absence or impairment causes MODY, the enzyme glucokinase (GCK/MODY2) and four transcription factors: hepatocyte nuclear factor 4alpha (HNF-4alpha/MODY1), HNF-1alpha/MODY3, insulin promoter factor 1 (IPF-1/MODY4) and HNF-1beta/MODY5. "
10.	NFI Transcription FactorsIBA 11/01/2000 - "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]. " 07/01/1999 - "To date, mutations in genes of five proteins have been shown to cause MODY: glucokinase (MODY2), hepatic nuclear factor-1 alpha (HNF-1 alpha) (MODY3), hepatic nuclear factor-4 alpha (HNF-4 alpha) (MODY1), insulin promoter factor 1 (IPF-1) (MODY4) and hepatic nuclear factor-1 beta (HNF-1 beta) (MODY5), but other MODY genes still await elucidation. " 09/01/1998 - "To date five MODY genes have been identified: hepatocyte nuclear factor-4 alpha (HNF-4alpha/MODY1/TCF14) on chromosome 20q, glucokinase (GCK/MODY2) on chromosome 7p, hepatocyte nuclear factor-1 alpha (HNF-1alpha/MODY3/TCF1) on chromosome 12q, insulin promoter factor-1 (IPF1/MODY4) on chromosome 13q and hepatocyte nuclear factor-1 beta (HNF-1beta/MODY5/TCF2) on chromosome 17cen-q. "

Therapies and Procedures

1.	Glycemic Control 01/01/2015 - "Genetic analysis revealed a novel nonsense mutation in the PDX1 gene, consistent with MODY type 4. Given this patient's particular genetic mutation affecting the incretin pathway, sitagliptin was substituted for glyburide, which led to significant improvement in glycemic control. "