PedAM
Pediatric Disease Annotations & Medicines
| Disease | maturity-onset diabetes of the young |
| Phenotype | C0011860|maturity-onset diabetes |
| Sentences | 137 |
| PubMedID- 23610061 | Significantly, mutations in pdx1 (5), pax6 (6), and neurod1 (7) also cause maturity-onset diabetes of the young in humans. |
| PubMedID- 23274887 | Heterozygous loss-of-function pdx1 mutations are linked to common human type 2 diabetes and cause heritable maturity-onset diabetes of the young type 4 (13,14). |
| PubMedID- 22577560 | Mutations in hepatocyte nuclear factor 1α (hnf-1α) is associated with maturity-onset diabetes of the young type 3. this condition depends on impaired insulin secretory response in pancreatic beta cells. |
| 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- 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- 20936101 | maturity-onset diabetes of the young (mody) is a rare, autosomal dominant form of diabetes. |
| 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- 22523693 | [8] identified hnf4a mutations as being causative in maturity-onset diabetes of the young (mody type 1, omim #125850) based on a nonsense mutation (p.q268x) in an extended pedigree, many other seemingly functional variants have turned out to be either innocent bystanders or of relatively low penetrance. |
| PubMedID- 23441155 | Inactivating gck mutations lead to maturity-onset diabetes of the young and neonatal diabetes [5]–[7], whereas activating gck mutations cause persistent hyperinsulinaemic hypoglycaemia [8]–[11]. |
| PubMedID- 26064518 | Not only in t2dm [15], but also in maturity-onset diabetes of the young (mody) [16], in particular, in hnf1α-mutated cases (mody3), who are characterized by a paradoxically low renal threshold for glucose and, therefore, exceptional glucosuria [17]. |
| PubMedID- 23071669 | Hnf4a, a nuclear receptor transcription factor, has been linked to developmental and metabolic functions, and to several diseases, including maturity-onset diabetes of the young and type 2 diabetes [50]. |
| 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- 26169365 | Patients with type 1 diabetes, gestational diabetes, or maturity-onset diabetes of the young were all excluded. |
| PubMedID- 21429197 | Exclusion criteria were: suspected non-type 1 diabetes (type 2 diabetes, maturity-onset diabetes of the young (mody) or secondary diabetes), decline of enrolment into the study by patients or parents, and patients initially treated outside of the centres for more than 5 days. |
| PubMedID- 21788644 | Although tattersall recognized that these patients “appeared to have maturity-onset type diabetes at an unusually early age,” he did not use the term “maturity-onset diabetes of the young” (12). |
| PubMedID- 20628089 | However, any unidentified maturity-onset diabetes of the young lineages could falsely increase risk estimates. |
| PubMedID- 23542897 | Common variants in several neonatal diabetes mellitus and maturity-onset diabetes of the young (mody) [e.g., potassium inwardly rectifying channel, subfamily j, member 11 (kcnj11), glucokinase (gck), hepatocyte nuclear factor 4 alpha (hnf1α), and hnf1β] are recognized as type 2 diabetes susceptibility variants 6 and 43 (bonnefond et al., 2010). |
| PubMedID- PMC4429118 | maturity-onset diabetes of the young type 5 encompasses a wide clinical spectrum. |
| PubMedID- 24299156 | In conclusion, we report the first patient with hnf4a hyperinsulinaemic hypoglycaemia to have switched to maturity-onset diabetes of the young on serial oral glucose tolerance testing. |
| PubMedID- 22299039 | Rare mutations in hnf1b have been associated with maturity-onset diabetes of the young subtype 5 (mody5), renal cysts, pancreatic atrophy, and uterine abnormalities caused by incomplete mullerian duct fusion and mullerian duct aplasia [15], [16]. |
| 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- 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- 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- 24303504 | The following were excluded: (1) patients with diabetes undergoing thiazolidinedione therapy; (2) patients with hypertension undergoing angiotensin-converting enzyme inhibitors therapy; (3) patients with diagnosed diabetic nephropathy; (4) patients with acute or chronic inflammatory disease; and (5) patients with type 1 diabetes, maturity-onset diabetes of the young, or mitochondrial diabetes. |
| PubMedID- 24669230 | Patients with type 1, gestational, or maturity-onset diabetes of the young were excluded. |
| PubMedID- 19833888 | Although mutations in hnf1b are associated with β-cell defects in maturity-onset diabetes of the young, it is unknown whether the type 2 diabetes–associated common single nucleotide polymorphism (snp) is also associated with reduced β-cell function (14,15). |
| PubMedID- 26268944 | Mutations in hnf4a, hnf1a and gck cause maturity-onset diabetes of the young (mody) as well hh [8, 13]. |
| PubMedID- 25806089 | The most significantly enriched pathways are the hedgehog signaling pathway (adjusted p = 3.96 × 10−3) and maturity-onset diabetes of the young (mody) (adjusted p = 6.26 × 10−3) in the positive admcs and type i diabetes mellitus (adjusted p = 3.69 × 10−7) in the negative admcs. |
| PubMedID- 26239553 | Ipsc lines have so far been generated from patients with type 1 and type 2 diabetes, as well as maturity-onset diabetes of the young [36,37,38]. |
| PubMedID- 23274891 | We hypothesized that loss-of-function hnf1a mutations causal for maturity-onset diabetes of the young (mody) would display altered fucosylation of n-linked glycans on plasma proteins and that glycan biomarkers could improve the efficiency of a diagnosis of hnf1a-mody. |
| 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- 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- 23281592 | Likewise, maturity-onset diabetes of the young type (mody syndrome) is linked to kinetic alterations and regulation of glucokinase activity [46,47] and in our ranking glucokinase receptor is the top ranked gene for mody syndrome. |
| PubMedID- 23139355 | maturity-onset diabetes of the young (mody) is a group of monogenic forms of diabetes (1) that exhibit specific loss-of-function mutations with characteristic phenotypes. |
| PubMedID- 23029454 | 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- 21949805 | The intracellular signaling mechanisms regulating insulin secretion have been extensively studied [4], and transcription factors have been linked to β-cell dysfunction in type 2 diabetes and maturity-onset diabetes of the young [3], [5]. |
| PubMedID- 21636800 | This group may also include individuals with single-gene mutations affecting β-cell function, historically referred to as maturity-onset diabetes of the young (mody). |
| PubMedID- 26110391 | In human, heterozygous mutations in nr2a1 are associated with maturity-onset diabetes of the young type 1 (mody1), an autosomal dominant genetic disorder that is characterized by early onset type 2 diabetes. |
| 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- 23820649 | (2007)maturity-onset diabetes of the younghnf1ahnf4aforlani et al. |
| 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- 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- 20682687 | Fifteen snps in genes that cause either maturity-onset diabetes of the young or neonatal diabetes were nominally associated with diabetes incidence; one of them, rs11868513 in hnf1b (not in ld with the previously type 2 diabetes–associated snp rs757210), was strongly associated with diabetes incidence in the placebo arm (hr 1.69, 95% ci 1.36–2.10, p = 2 × 10−6). |
| PubMedID- 21294870 | Eight subjects with genetically verified maturity-onset diabetes of the young [24] and 205 subjects evaluated as having type 1 diabetes were excluded. |
| 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- 20174558 | Subjects with type 1 diabetes, gestational diabetes, and maturity-onset diabetes of the young (mody) were excluded from this study. |
| PubMedID- 26430540 | These adenomas occur almost always in females, are multiple in half the cases, and can be associated with familial hepatic adenomatosis and maturity-onset diabetes of the young (mody). |
| PubMedID- 21270186 | maturity-onset diabetes of the young (mody) describes dominantly inherited young-onset non–insulin-dependent diabetes (often <25 years’ duration) with persistent endogenous insulin secretion (1,2). |
| PubMedID- 26110317 | Hnf1a-maturity-onset diabetes of the young (hnf1a-mody) is the most common monogenic form of diabetes resulting from mutations in the gene encoding the pancreatic transcription factor hepatocyte nuclear factor 1α (hnf1a) [21]. |
| 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. |