eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | maturity-onset diabetes of the young |
| Comorbidity | C0342276|maturity-onset diabetes of the young |
| Sentences | 90 |
| PubMedID- 24026547 | maturity-onset diabetes of the young (mody) is the most prevalent form of monogenic diabetes, all types of which account for 1–2% of diabetes cases (1). |
| PubMedID- 21515849 | Stable fasting hyperglycemia is observed in individuals with gck maturity-onset diabetes of the young (mody), a monogenic form of diabetes caused by mutations in the gck gene, and is maintained over the course of a lifetime (27), with many of these individuals showing no symptoms, suggesting that stable mild fasting hyperglycemia may not in itself be detrimental. |
| PubMedID- 24606082 | maturity-onset diabetes of the young (mody) accounts for approximately 5% of all diabetes cases diagnosed before the age of 45 years (1). |
| PubMedID- 22611063 | We identified three probands with a phenotype consistent with maturity-onset diabetes of the young (mody) subtype gck-mody, in whom two potential pathogenic mutations were identified: [r43h/g68d], [e248 k/i225m], or [g261r/d217n]. |
| PubMedID- 22187472 | They are referred to as maturity-onset diabetes of the young (mody) and are characterized by impaired insulin secretion with minimal or no defects in insulin action. |
| PubMedID- 25619391 | Liraglutide is effective in patients with maturity-onset diabetes of the young (mody) 3, and produces lower hypoglycemic risk than glimepiride9. |
| PubMedID- 21709279 | In a separate model, mice exposed to tcdd had reduced glucokinase gene expression (33), predicting a rise in blood glucose levels analogous to that seen in maturity-onset diabetes of the young type 2. others have suggested that the diabetogenic effects of tcdd are mediated through an antagonism of peroxisome proliferator–activated receptor-γ (pparγ) action (34) or through upregulation of the inflammatory adipokine tumor necrosis factor-α (tnf-α) in adipocytes (35). |
| PubMedID- 24299156 | Hnf4a mutations cause hyperinsulinaemic hypoglycaemia and maturity-onset diabetes of the young (mody) [6–8]. |
| PubMedID- 25806089 | As shown in additional file 8, three kegg pathways were found to be significantly enriched in clusters positively associated with age, including the hedgehog signaling pathway (adjusted p = 3.96 × 10−3; figure 5a) and the maturity-onset diabetes of the young (mody) pathway (adjusted p = 6.26 × 10−3; figure 5b) and neuroactive ligand-receptor interaction (adjusted p = 1.58 × 10−2). |
| PubMedID- 24476040 | Bgi: beijing genomic institute; bmi: body mass index; fn: false negative; fp: false positive; het: heterozygous; hom: homozygous; ins: insulin; lovd: locus specific mutation databases; maldi-tof-ms: matrix-assisted laser desorption/ionization time-of-flight mass spectrometry; mlpa: multiplex ligation-dependent probe amplification; mody: maturity-onset diabetes of the young; na: not applicable; ndm: neonatal diabetes mellitus; ngs: next generation sequencing; pcr: polymerase chain reaction; pe: paired-end; phhi: persistent hyperinsulinemic hypoglycemia of infancy; pndm: permanent neonatal diabetes mellitus; oha: oral hypoglycemic agents; snp: single nucleotide polymorphism; t1d: type 1 diabetes; t2d: type2 diabetes; tn: true negative; tndm: transient neonatal diabetes mellitus; tp: true positive; utr: untranslated region; yh: yanhuang. |
| PubMedID- 20664687 | Subjects with type 1 diabetes, gestational diabetes, and mody (maturity-onset diabetes of the young) were excluded from this study. |
| PubMedID- 20226046 | Gad: glutamic acid decarboxylase; gdm: gestational diabetes mellitus; ins: insulin gene; mody: maturity-onset diabetes of the young; pndm: permanent neonatal diabetes mellitus. |
| PubMedID- 20936101 | maturity-onset diabetes of the young (mody) is a rare, autosomal dominant form of diabetes. |
| PubMedID- 20174558 | Subjects with type 1 diabetes, gestational diabetes, and maturity-onset diabetes of the young (mody) were excluded from this study. |
| PubMedID- 20056949 | Subjects who tested positive for anti-gad antibodies and those with mitochondrial disease (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) or maturity-onset diabetes of the young (mody) were not included. |
| PubMedID- 24447392 | maturity-onset diabetes of the young (mody) is a clinically heterogeneous group of disorders and accounts for about 2%–5% of all diabetic patients [10]. |
| PubMedID- 20526366 | Hnf1b was previously known to be mutated in individuals with maturity-onset diabetes of the young type 5 (mody 5)[13], but a biological explanation of the impact of the identified common variation on t2d and prostate cancer risk remains elusive. |
| PubMedID- 20181263 | Patients with clinical or autoimmune type 1 diabetes and families with known maturity-onset diabetes of the young or mitochondrial dna nucleotide 3243 a > g mutations were excluded. |
| PubMedID- 23942200 | Other topics, such as cardiogenetics (ie, long qt syndrome or hyperthrophic cardiomyopathy) or diabetes (ie, maturity-onset diabetes of the young), could also be trained in this framework. |
| PubMedID- 20628089 | However, any unidentified maturity-onset diabetes of the young lineages could falsely increase risk estimates. |
| PubMedID- 19933992 | Serum 1,5 anhydroglucitol (1,5ag) levels were reported to differentiate maturity-onset diabetes of the young due to hnf1a mutations (hnf1a-mody) from type 2 diabetes, but this requires further validation. |
| PubMedID- 23610083 | Hepatocyte nuclear factor-1a maturity-onset diabetes of the young (hnf1a-mody) is a monogenic form of non-insulin-dependent diabetes caused by heterozygous mutations in the hnf1a gene (1). |
| PubMedID- 21625646 | It is worth to highlight here the maturity-onset diabetes of the young (mody) and the neonatal diabetes case, as a case study of successful treatment. |
| PubMedID- 25790815 | An association with maturity-onset diabetes of the young (mody), type 3 and familial hepatic adenomatosis has been reported [36, 43, 44]. |
| PubMedID- 26464794 | Mutations in the hnf1β gene cause maturity-onset diabetes of the young type 5 (mody5), renal cysts, genital malformations, and pancreas atrophy. |
| PubMedID- 20938745 | Pndm, permanent neonatal diabetes mellitus; tndm, transient neonatal diabetes mellitus; mody, maturity-onset diabetes of the young; t1bdm, type 1b diabetes mellitusfig. |
| PubMedID- 21788644 | Robert tattersall deserves full credit for suggesting that the familial disease previously designated in 1964 as maturity-onset diabetes of the young is inherited in a dominant fashion. |
| PubMedID- 24023612 | The sequence variations in or near the blk gene have been shown to cosegregate with maturity-onset diabetes of the young (mody) in familial studies. |
| PubMedID- 23846812 | Subjects also were excluded if they were 1) taking any medications known to influence body composition, insulin action, or insulin secretion (e.g., prednisone, ritalin, growth hormone); 2) diagnosed with syndromes or diseases that may influence insulin action and secretion (e.g., maturity-onset diabetes of the young, lipoatrophic diabetes, cystic fibrosis) or body composition and fat distribution (e.g., cushing syndrome, down syndrome); or, 3) previously diagnosed with any major illness since birth (e.g., severe intrauterine growth retardation, birth asphyxia, cancer) or a condition that could affect body composition, fat distribution, or insulin action or secretion. |
| PubMedID- 22723580 | Candidates were excluded if they had diabetes secondary to a specific disease (maturity-onset diabetes of the young, pancreatitis, or pancreatectomy), drug or alcohol addiction, recent vascular event (myocardial infarction, coronary angioplasty, or stroke within 6 months), internal malignancy, portal hypertension, inability to cooperate in long-term follow-up, poor understanding of the operation, or unrealistic expectations of outcomes or mental impairment (as judged by investigators during the first clinic visit). |
| PubMedID- 22162806 | Moreover, rare cel gene defects in this region are responsible for a monogenically derived diabetes condition called maturity-onset diabetes of the young type 8 (mody8), also known as diabetes and pancreatic exocrine dysfunction (dped), which causes a defect in insulin secretion [31, 32]. |
| PubMedID- 23264425 | They are referred to as maturity-onset diabetes of the young (mody) and are characterized by impaired insulin secretion with minimal or no defects in insulin action. |
| PubMedID- 20886378 | This new knowledge means that patients who were previously categorized clinically as having maturity-onset diabetes of the young (mody), permanent neonatal diabetes mellitus, or transient neonatal diabetes mellitus can now usually be classified by genetic subgroup. |
| PubMedID- 23761103 | Monogenic diabetes, or maturity-onset diabetes of the young (mody), is caused by mutations of these genes (hnf1α-mody, hnf1β-mody, pdx1-mody, neurod1-mody) (11–16). |
| PubMedID- 20007936 | Here, we sought to identify ins mutations associated with maturity-onset diabetes of the young (mody) or nonautoimmune diabetes in mid-adult life, and to explore the molecular mechanisms involved. |
| PubMedID- 23776849 | [37] heterozygous mutations in the hnf4a gene causes maturity-onset diabetes of the young type 1 (mody1), which is characterized by progressive β-cell dysfunction and failure of glucose induced insulin secretion. |
| PubMedID- 20571754 | However, it is worth noting that not all glucose-raising loci appear to influence type 2 diabetes risk [11], possibly because some loci may cause modest elevations in glucose concentrations that do not worsen over time, as observed in maturity-onset diabetes of the young [17]. |
| PubMedID- 26417406 | Patients who have diabetic conditions other than type 2 diabetes, such as diabetes associated with chronic pancreatitis49, maturity-onset diabetes of the young with hepatocyte nuclear factor-1α (hnf1α) mutation51 and gestational diabetes52, also have the decreased incretin effect. |
| PubMedID- 24647409 | maturity-onset diabetes of the young type-3 (mody3) is an early onset, non-insulin-dependent form of diabetes characterized by autosomal-dominant inheritance [14]. |
| PubMedID- 22662265 | Mody (maturity-onset diabetes of the young) is a heterogeneous group of diabetes caused by single gene defects in at least ten genes affecting pancreas development and beta-cell function [1], [2], [3]. |
| PubMedID- 24669230 | Patients with type 1, gestational, or maturity-onset diabetes of the young were excluded. |
| PubMedID- 20682687 | Although pharmacogenetic investigation has yielded clinically actionable results in neonatal diabetes and maturity-onset diabetes of the young, extending these studies to common type 2 diabetes has been more arduous (2). |
| PubMedID- 20067960 | Youth with maturity-onset diabetes of the young, hybrid, other, or missing type were excluded (n = 7). |
| PubMedID- 22517736 | There are few exceptions, mainly involving diabetes monogenic variants often confused with type 2 diabetes, such as maturity-onset diabetes of the young (mody), several forms of which respond preferentially to sulfonylureas (110). |
| PubMedID- 23251491 | However, only the maturity-onset diabetes of the young (mody) gene hnf4a[36] and the t2d gene cdkn2a[37] in sat had significant permutation adjusted p-values. |
| PubMedID- 20009086 | Homozygous or compound heterozygous mutations in pdx1 have been previously reported in two unrelated patients with neonatal diabetes and exocrine pancreas deficiency due to pancreas agenesis or hypoplasia (10,11), and heterozygous mutations are responsible for maturity-onset diabetes of the young (mody4) (7,12). |
| PubMedID- 24026554 | This was obtained from medical records or physician reports and categorized as type 1 (combining type 1, type 1a, and type 1b), type 2, secondary diabetes, and other types (such as “hybrid,” maturity-onset diabetes of the young, other type, and unknown/missing). |
| PubMedID- 19794065 | maturity-onset diabetes of the young (mody) is a young-onset, dominantly inherited non–insulin-dependent diabetes resulting from β-cell dysfunction (1). |
| PubMedID- 22577560 | The hepatocyte nuclear factor-1α (hnf1α), which haploinsufficiency causes the maturity-onset diabetes of the young type 3 (mody3), also appears to modulate shp expression via the fxr pathway. |
| PubMedID- 20360843 | Mutations in human hnf4α are associated with maturity-onset diabetes of the young, an autosomal dominant genetic condition associated with early onset diabetes [8]. |
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