Home Contact Sitemap

eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease maturity-onset diabetes of the young
Comorbidity |maturity-onset diabetes
Sentences 90
PubMedID- 21700917 maturity-onset diabetes of the young (mody) is a rare monogenic form of diabetes and is often misdiagnosed as type 1 diabetes or type 2 diabetes (1,2).
PubMedID- 20067960 Youth with maturity-onset diabetes of the young, hybrid, other, or missing type were excluded (n = 7).
PubMedID- 24447392 Dcm: diabetic cardiomyopathy; dm: diabetes mellitus; mody: maturity-onset diabetes of the young; gck: glucokinase; pparγ: peroxisome proliferator activated receptor γ; ipgtt: intraperitoneal glucose tolerance test; homa: homeostasis model assessment; ef: ejection fraction; fs: fractional shortening; ecg: electrocardiogram; mlc2: myocardium myosin light chain; ampk: adenosine 5'-monophosphate (amp)-activated protein kinase; acc: acetyl-coa carboxylase; sod: superoxide dismutase; mda: malondialdehyde; lvid;d: left ventricle internal dimension during diastole; lvid;s: left ventricle internal dimension during systole; lvpw;d: left ventricle posterior wall thickness during diastole; lvpw;s: left ventricle posterior wall thickness during systole; cyba: cytochrome b-245 alpha; cybb: cytochrome b-245 beta.
PubMedID- 24086726 Patients who tested positive for antibodies to glutamic acid decarboxylase or who were diagnosed with mitochondrial disease or maturity-onset diabetes of the young were excluded from the present study.
PubMedID- 20664687 Subjects with type 1 diabetes, gestational diabetes, and mody (maturity-onset diabetes of the young) were excluded from this study.
PubMedID- 20936101 maturity-onset diabetes of the young (mody) is a rare, autosomal dominant form of diabetes.
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- 21805196 Karlsson et al., looking for biomarkers for maturity-onset diabetes of the young (mody), found that complement c5 and c8 are both elevated in diabetes, regardless of aetiology [117], a possible mechanism for these abnormalities being that complement activation can be driven by glycated immunoglobulins [118].
PubMedID- 22618775 Support for this hypothesis comes from studies on maturity-onset diabetes of the young (mody), a group of autosomal-dominant disorders that typically manifest in adolescents, predominantly resulting from heterozygous mutations in islet developmental transcription factors (hnf4α, hnf1α, hnf1β, ipf1/pdx1, neurod1, and perhaps others) (62).
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- 25598768 Using wes in the maturity-onset diabetes of the young (mody) patients, the same research group found one mutation (p.glu227lys) in kcnj11, indicating that such mody patients can be ideally treated with oral sulfonylureas [51].
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- 25894234 Moreover, in maturity-onset diabetes of the young (mody) patients with low insulin responses, there are delayed and decreased insulin and c-peptide secretory responses to glucose due to beta cell dysfunction [31].
PubMedID- 20628089 However, any unidentified maturity-onset diabetes of the young lineages could falsely increase risk estimates.
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- 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- 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- 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- 20042775 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- 24734255 The maturity-onset diabetes of the young (mody) is a familial monogenic form of early-onset type 2 diabetes, which usually develops in childhood, adolescence, or young adulthood [105].
PubMedID- 22808921 maturity-onset diabetes of the young (mody), is a monogenic form of diabetes characterized by autosomal dominant mode of inheritance including a three-generation family history of diabetes, age at diagnosis of diabetes of 25 years or less in at least one family member and reduced glucose-stimulated insulin secretion [1].
PubMedID- 24586696 Heterozygous inactivating gck mutations cause maturity-onset diabetes of the young (mody), homozygous or compound heterozygous inactivating mutations cause permanent neonatal diabetes mellitus (pndm), and heterozygous activating mutations cause congenital hyperinsulinism (chi) [10].
PubMedID- 24244580 maturity-onset diabetes of the young type 2 (mody2) is a monogenic form of diabetes with autosomic dominant transmission caused by heterozygous, inactivating mutation in the glucokinase gene (gck).
PubMedID- 21193628 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- 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- 22355214 Additionally, mutation in the gene is associated with maturity-onset diabetes of the young type iii (mody3) [16,17], indicating the important biological role of hnf-1α in glucose metabolism.
PubMedID- 21324932 For example, point mutations in the gck gene give rise to maturity-onset diabetes of the young 2 (gck-mody2) in humans and to a similar phenotype in the mouse (e.g.
PubMedID- PMC4429118 maturity-onset diabetes of the young type 5 encompasses a wide clinical spectrum.
PubMedID- 21085603 For example, rare highly penetrant sequence variants in several genes (hnf4a, gck, tcf1/hnf1a, tcf2/hnf1b) invariably cause a monogenic disorder known as maturity-onset diabetes of the young (mody), while common less penetrant variants in the same genes are risk factors for multifactorial type 2 diabetes.
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- 23264297 Seemed to confirm our published theory; therefore, a nonmutated gck child from a maturity-onset diabetes of the young type 2 (mody2+) mother may have the same complications as a diabetic mother's son and, in this case, it's very important to treat the mother (also with insulin if necessary) to prevent macrosomia and neonatal hypoglycemia—but the situation is different if both mother and child carry a genetic mutation predisposing to mody2.
PubMedID- 26417411 maturity-onset diabetes of the young (mody) is a monogenic form of diabetes that arises from one or more mutations in a single gene, and 13 disease genes for mody have been identified1; for example, the disease gene of mody5 is hnf1b1.
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- 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].
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- 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- 20705777 maturity-onset diabetes of the young (mody) (mim #606391) is a genetically and clinically heterogeneous group of disorders characterized by early onset of noninsulin-dependent diabetes and autosomal dominant inheritance.
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- 20682686 maturity-onset diabetes of the young (mody) is a familial form of non–insulin-dependent diabetes characterized by early onset of disease, autosomal dominant inheritance, and insulin secretory defects (1).
PubMedID- 21189947 Mutations in the genes encoding hnf-1β produce an autosomal dominant disorder maturity-onset diabetes of the young, type 5 (mody5), also known as renal cysts and diabetes (rcad), because affected individuals present with severe cystic kidney disease40).

Page: 1 2