Mason-Type Diabetes

A hereditary autosomal dominant form of diabetes characterized by genetic metabolic, and clinical heterogeneity. Onset is usually before age 25 and it is caused by defects in INSULIN SECRETION. OMIM: 606391

Also Known As:

Networked: 585 relevant articles (2 outcomes, 36 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Type 2 Diabetes Mellitus (MODY)
2.	Permanent Neonatal Diabetes Mellitus
3.	Type 1 Diabetes Mellitus (Autoimmune Diabetes)
4.	Type 3 Maturity-Onset Diabetes of the Young
5.	Insulin Resistance

Experts

1.	Ellard, Sian: 18 articles (01/2016 - 12/2002)
2.	Hattersley, Andrew T: 17 articles (01/2021 - 01/2002)
3.	Hattersley, A T: 16 articles (10/2017 - 01/2000)
4.	Ellard, S: 14 articles (03/2014 - 02/2000)
5.	Gloyn, Anna L: 13 articles (07/2015 - 11/2003)
6.	Hansen, Torben: 12 articles (01/2019 - 09/2002)
7.	Pedersen, Oluf: 11 articles (01/2019 - 09/2002)
8.	Yamagata, Kazuya: 11 articles (01/2017 - 01/2002)
9.	Owen, Katharine R: 9 articles (03/2022 - 08/2009)
10.	Molven, Anders: 9 articles (01/2022 - 02/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mason-Type Diabetes:

1.	GlucokinaseIBA 01/01/2021 - "Additional analyses from the PPSDiab Study consisted of cardiopulmonary exercise testing, magnetic resonance imaging, auto-antibody testing, and the exclusion of glucokinase maturity-onset diabetes of the young. " 06/01/2008 - "The aim of this study was to characterize glucokinase (GCK) alterations in maturity-onset diabetes of the young 2 (MODY2)-suspected patients and to investigate their clinical characteristics in relation to the parental origin of the mutation. " 06/01/2006 - "From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation." 10/01/1999 - "Clinical data for maturity onset diabetes of the young type linked to the glucokinase gene and familial hyperinsulinaemic hypoglycaemia linked to the glucokinase gene and the glucokinase kinetic data of this study were used to test the model. " 09/01/1995 - "Candidate gene studies in pedigrees with maturity-onset diabetes of the young not linked with glucokinase."
2.	Glucose (Dextrose)FDA LinkGeneric 01/01/2023 - "From glucose sensing to exocytosis: takes from maturity onset diabetes of the young." 01/01/2022 - "Pancreatic and duodenal homeobox factor-1 (PDX-1) is an imperative gene for insulin secretion in maturity-onset diabetes of the young 4. PDX-1 gene polymorphism was associated with lower first-phase insulin secretion in a genome-wide association study of intravenous glucose tolerance test. " 03/01/2014 - "Serial oral glucose tolerance testing, after the resolution of hyperinsulinaemic hypoglycaemia, confirmed the diagnosis of maturity-onset diabetes of the young at the age of 10 years. " 09/01/2007 - "Whereas deletion or inactivating mutations of the Pdx1 gene causes whole pancreas agenesis in both mice and humans, even haploinsufficiency of the gene or alterations in its expression in mature islet cells causes substantial impairments in glucose tolerance and the development of a late-onset form of diabetes known as maturity onset diabetes of the young. " 09/01/1998 - "Glucose utilization and production in patients with maturity-onset diabetes of the young caused by a mutation of the hepatocyte nuclear factor-1alpha gene."
3.	Glyburide (Glibenclamide)FDA LinkGeneric 10/01/2017 - "Due to the risk of stimulating increased insulin secretion in utero, we recommend that in women with HNF1A/ HNF4A maturity-onset diabetes of the young, those with good glycaemic control who are on a sulfonylurea per conception either transfer to insulin before conception (at the risk of a short-term deterioration of glycaemic control) or continue with sulfonylurea (glibenclamide) treatment in the first trimester and transfer to insulin in the second trimester. " 10/01/2012 - "To contribute to the understanding of experimental pharmacology and therapeutics of GKAs, we have tested the efficacy of one of these agents (Piragliatin) in isolated islets from humans with type 2 diabetes mellitus (T2DM), from mice with glucokinase (GK) mutations induced by ethyl-nitroso-urea (ENU) as models of Maturity Onset Diabetes of the Young linked to GK and Permanent Neonatal Diabetes Mellitus linked to GK (PNDM-GK) and finally of islets rendered glucose insensitive by treatment with the sulphonyl urea compound glyburide in organ culture. "
4.	Urea (Carbamide)FDA LinkGeneric 10/01/2012 - "To contribute to the understanding of experimental pharmacology and therapeutics of GKAs, we have tested the efficacy of one of these agents (Piragliatin) in isolated islets from humans with type 2 diabetes mellitus (T2DM), from mice with glucokinase (GK) mutations induced by ethyl-nitroso-urea (ENU) as models of Maturity Onset Diabetes of the Young linked to GK and Permanent Neonatal Diabetes Mellitus linked to GK (PNDM-GK) and finally of islets rendered glucose insensitive by treatment with the sulphonyl urea compound glyburide in organ culture. "
5.	piragliatinIBA 10/01/2012 - "To contribute to the understanding of experimental pharmacology and therapeutics of GKAs, we have tested the efficacy of one of these agents (Piragliatin) in isolated islets from humans with type 2 diabetes mellitus (T2DM), from mice with glucokinase (GK) mutations induced by ethyl-nitroso-urea (ENU) as models of Maturity Onset Diabetes of the Young linked to GK and Permanent Neonatal Diabetes Mellitus linked to GK (PNDM-GK) and finally of islets rendered glucose insensitive by treatment with the sulphonyl urea compound glyburide in organ culture. "
6.	Insulin (Novolin)FDA Link 02/01/2023 - "KLF11 regulates insulin gene expression through binding to the insulin promoter and has been reported as a causative gene for maturity-onset diabetes of the young 7 (MODY7). " 01/01/2020 - "These forms of diabetes should be included in maturity-onset diabetes of the young testing panels, and relatives of TNDM patients should be screened for underlying defects, as they may be treated with drugs other than insulin." 04/01/2015 - "Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young." 05/01/2006 - "The family history for non-insulin-dependent diabetes was suggestive of maturity-onset diabetes of the young. " 01/01/2006 - "Furthermore, defined genetic defects exist of pancreatic beta-cell function (maturity-onset diabetes of the young, mitochondrial diabetes) and insulin action (e.g. "
7.	Transcription Factors (Transcription Factor)IBA 12/21/2020 - "Our study aims to investigate the impact of the Maturity-onset diabetes of the young 3 disease-linked rSNP rs35126805 located in the HNF‑1α gene promotor on the binding of the transcription factor HNF‑4α and consequently on the regulation of HNF‑1α gene expression. " 12/25/2009 - "Here, we show that KLF11, an SP/Krüppel-like (SP/KLF) transcription factor, mutated in French maturity onset diabetes of the young patients (MODY7), regulates Pdx-1 transcription in beta cells through two evolutionarily conserved GC-rich motifs in conserved Area II, a control region essential to islet beta cell-enriched expression. " 12/15/2004 - "Mutations in the HNF1beta gene, encoding the dimeric POU-homeodomain transcription factor HNF1beta (TCF2 or vHNF1), cause various phenotypes including maturity onset diabetes of the young 5 (MODY5), and abnormalities in kidney, pancreas and genital tract development. " 12/01/2002 - "Experimental models of transcription factor-associated maturity-onset diabetes of the young." 09/01/2002 - "The role of transcription factors in maturity-onset diabetes of the young."
8.	Hepatocyte Nuclear FactorsIBA 01/01/2022 - "Maturity-onset diabetes of the young 5 (MODY5), a rare diabetes syndrome of young adults, is associated with variants in hepatocyte nuclear factor 1B (HNF1B) gene. " 10/01/2017 - "Hepatocyte nuclear factor 1β maturity-onset diabetes of the young in a Chinese child presenting with hyperglycemic hyperosmolar state." 11/01/2009 - "Hepatocyte nuclear factor (HNF)1A and HNF4A substitution occurring simultaneously in a family with maturity-onset diabetes of the young." 03/01/2004 - "Mutations in the hepatocyte nuclear factor (HNF)-1 beta lead to type 5 maturity-onset diabetes of the young (MODY5). " 03/01/2004 - "Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with Type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations."
9.	Hepatocyte Nuclear Factor 1-alpha (Hepatocyte Nuclear Factor 1 alpha)IBA 10/01/2009 - "Transgenic cloned pigs carrying a mutant human hepatocyte nuclear factor 1alpha gene, which is known to cause the type 3 form of maturity-onset diabetes of the young, were produced using a combined technology of intracytoplasmic sperm injection-mediated gene transfer and somatic cell nuclear transfer. " 03/01/2006 - "Mechanisms of mutual functional interactions between HNF-4alpha and HNF-1alpha revealed by mutations that cause maturity onset diabetes of the young." 10/01/2002 - "Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young." 11/01/2000 - "Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young." 01/01/2019 - "Genetic Study of Hepatocyte Nuclear Factor 1 Alpha Variants in Development of Early-Onset Diabetes Type 2 and Maturity-Onset Diabetes of the Young 3 in Iran."
10.	AntibodiesIBA 09/01/2011 - "The prevalence of GAD and IA-2 antibodies in maturity-onset diabetes of the young is the same as in control subjects (< 1%). " 09/01/2011 - "All five patients with maturity-onset diabetes of the young with detectable antibodies had GAD antibodies and none had detectable IA-2 antibodies. " 09/01/2011 - "The aim of this study was to determine the prevalence of GAD and IA-2 antibodies in patients with maturity-onset diabetes of the young and Type 1 diabetes. " 12/01/1996 - "Under semiambulatory conditions, 85 consecutive patients with the diagnosis of Type 2 diabetes of short duration (excluding patients with islet cell antibodies or maturity onset diabetes of the young) were admitted to a self-control training program and were examined in this study. " 09/01/2011 - "GAD and/or IA-2 antibodies were present in 80/98 (82%) patients with Type 1 diabetes and 5/508 (< 1%) patients with maturity-onset diabetes of the young. "

Therapies and Procedures

1.	Therapeutics 01/01/2022 - "Precision therapy for three Chinese families with maturity-onset diabetes of the young (MODY12)." 01/01/2021 - "Precision Therapy for a Chinese Family With Maturity-Onset Diabetes of the Young." 01/01/2023 - "Identification and precision therapy for three maturity-onset diabetes of the young (MODY) families caused by mutations in the HNF4A gene." 01/01/2018 - "with onset within first 6 months of life) and patients with Maturity Onset Diabetes of the Young (MODY; an autosomal dominant form of diabetes), those carrying mutations in KCNJ11, ABCC8, HNF1A and HNF4A genes usually respond to oral therapy with sulphonylurea, while those bearing GCK mutations do not necessitate any treatment. " 07/01/2017 - "Precise diagnosis of maturity-onset diabetes of the young (MODY) has proven valuable for understanding mechanism of diabetes and selecting optimal therapy. "
2.	Diet Therapy (Therapy, Diet) 01/01/1981 - "The efficacy of diet therapy used for one patient with the newly classified maturity-onset diabetes of the young (MODY) is reported. "
3.	Precision Medicine 01/01/2019 - "This review discusses how the application of state-of-the-art genomics research to precision diagnosis of MD, particularly the various subtypes of maturity-onset diabetes of the young (MODY), has increasingly informed diabetes precision medicine and patient care throughout life. " 09/01/2019 - "Personalized medicine finds wider utility in monogenic (especially Maturity Onset Diabetes of the Young (MODY) and Neonatal Diabetes Mellitus [NDM]) than in polygenic, diabetes. "
4.	Kidney Transplantation 04/27/2004 - "Maturity-onset diabetes of the young with end-stage nephropathy: a new indication for simultaneous pancreas and kidney transplantation?" 05/01/2012 - "The diabetes and renal phenotype of patients with maturity-onset diabetes of the young (MODY) on a transplantation waiting list is not known; neither is their outcome after pancreas (PT) and/or kidney transplantation (KT). "
5.	Pancreas Transplantation 05/01/2012 - "Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience."