PedAM
Pediatric Disease Annotations & Medicines
| Disease | maturity-onset diabetes of the young |
| Phenotype | C0342276|maturity-onset diabetes of the young |
| Sentences | 137 |
| 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- 20067960 | Youth with maturity-onset diabetes of the young, hybrid, other, or missing type were excluded (n = 7). |
| 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- 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- 20185807 | Loss-of-function mutations in gck are responsible for maturity-onset diabetes of the young (mody) 2, a syndrome characterized by mild fasting hyperglycemia and glucose intolerance due to reduced sensitivity of insulin secretion to changes in glycemia, resulting in an impaired secretory response (45). |
| PubMedID- 23717413 | A variant is maturity-onset diabetes of the young (mody), a monogenic form of the disease responsible for 1–2% of t2dm [1], [2]. |
| 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- 23820649 | (2011)maturity-onset diabetes of the younghnf1ahnf1bkarges et al. |
| PubMedID- 19934005 | (10) isolated a mutation in glucokinase, a gene commonly mutated in maturity-onset diabetes of the young, indicating that this method has the potential to uncover genes that are physiologically relevant to the etiology of metabolic disorders. |
| PubMedID- 22538116 | Moreover, 54 proteins were already assigned to known human disease pathways and might be relevant for tracking disease-related changes earlier in life associated with maturity-onset diabetes of the young (mody), primary immunodeficiency, systemic lupus erythematosus, ventricular/hypertonic or dilated cardiomyopathy, diverse kind of cancers, or infectious diseases. |
| 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- 23032149 | Loss-of-function hnf4a mutations cause maturity-onset diabetes of the young type 1 (mody1), which is characterized by progressive β-cell destruction and failure of glucose-induced insulin secretion (70,71). |
| PubMedID- 21390319 | The decreased serum apom level in maturity-onset diabetes of the young subjects as compared to the controls could be explained by the hnf-1 alpha mutations in these patients [28]. |
| PubMedID- 22523693 | One example is maturity-onset diabetes of the young (mody1), caused by mutations affecting the gene encoding the hepatic nuclear factor (hnf) 4-alpha (nr2a1) [6] (table 1). |
| 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- 20174558 | Subjects with type 1 diabetes, gestational diabetes, and maturity-onset diabetes of the young (mody) were excluded from this study. |
| 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- 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- 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- 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- 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- 26169365 | Patients with type 1 diabetes, gestational diabetes, or maturity-onset diabetes of the young were all excluded. |
| PubMedID- 26268944 | Mutations in hnf4a, hnf1a and gck cause maturity-onset diabetes of the young (mody) as well hh [8, 13]. |
| PubMedID- 20938745 | Non-autoimmune type 1 diabetes (t1dm)), maturity-onset diabetes of the young (mody), and early-onset type 2 diabetes (t2dm) (figs. |
| 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- 23846810 | Thus patients with maturity-onset diabetes of the young or other specific types of diabetes may have been erroneously diagnosed as having type 2 diabetes and enrolled in this study. |
| PubMedID- 20664687 | Subjects with type 1 diabetes, gestational diabetes, and mody (maturity-onset diabetes of the young) were excluded from this study. |
| 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- 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- 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- 22309939 | Kinases in the figure: cdc2l1, cell-division cycle 2-like 1 (pitslre proteins); chek1, chk1 checkpoint homologue (s. pombe); cdc2, cell-division cycle 2, g1 to s and g2 to m; csnk2a2, casein kinase 2, alpha prime polypeptide; dguok, deoxyguanosine kinase; gck, glucokinase (hexokinase 4, maturity-onset diabetes of the young 2); irak1, interleukin-1 receptor-associated kinase 1; map3k4, alpha mitogen-activated protein kinase kinase kinase 4; pdgfra, platelet-derived growth factor receptor, alpha polypeptide; pfkfb2, 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2; pik3c2g, phosphoinositide-3-kinase, class 2, gamma polypeptide; pik4cb, phosphatidylinositol 4-kinase, catalytic, beta polypeptide; phkg2, phosphorylase kinase, gamma 2 (testis); pftk1, pftaire protein kinase 1; plau, plasminogen activator, urokinase; plk1, polo-like kinase 1 (drosophila); prkcd, protein kinase c, delta; skp2: s-phase kinase-associated protein 2 (p45); rps6ka2, ribosomal protein s6 kinase, 90 kda, polypeptide 2; ttk, ttk protein kinase; vrk2, vaccinia-related kinase 2; ihpk1, inositol hexaphosphate kinase 1; pkig, protein kinase (camp-dependent, catalytic) inhibitor gamma; mapk8ip3, mitogen-activated protein kinase 8-interacting protein 3; prkd2, protein kinase d2; pi4k2b, phosphatidylinositol 4-kinase type-ii beta; uck1, uridine-cytidine kinase 1; loc392265, similar to cell-division protein kinase 5 (tau protein kinase ii catalytic subunit) (tpkii catalytic subunit) (serine/threonine-protein kinase pssalre). |
| 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- 26019827 | Mcdk has also been reported in other syndromes, including alagille syndrome (mutations in the jag1 gene), beckwith–wiedemann syndrome (imprinting disorder at 11p15.5), hypoparathyroidism-deafness-renal dysplasia syndrome (mutations in the gata3 transcription factor), maturity-onset diabetes of the young type 5 (mody5, mutations in the tcf2 gene), trisomy 18, vacterl association, waardenburg syndrome type 1 and williams syndrome [1, 4, 10]. |
| PubMedID- 22008945 | 2006), maturity-onset diabetes of the young (mody) (ellard et al. |
| 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- 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- 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- 23441155 | Heterozygous inactivating mutations in gck cause maturity-onset diabetes of the young subtype 2, in which hyperglycemia is present from birth. |
| 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- 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- 21829439 | maturity-onset diabetes of the young (mody) [28]. |
| 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- 23519111 | Monogenic diabetes, also called maturity-onset diabetes of the young (mody), accounts for about 2%–5% of all diabetic patients [4]. |
| 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- 22456868 | In humans, 250 mutations in the gck gene on chromosome 7 have been identified as being responsible for maturity-onset diabetes of the young (mody) (13), and certain rare but severe forms of diabetes are due to mutations in gck (14). |
| PubMedID- 22028181 | Heterozygous mutations that decrease enzyme activity cause maturity-onset diabetes of the young (gk-mody) characterized by mild hyperglycemia (6), whereas homozygous or compound heterozygous mutations manifest as the more severe phenotype of permanent neonatal diabetes mellitus (7). |
| PubMedID- 20226046 | Ins was sequenced in 116 maturity-onset diabetes of the young (modyx) patients (n = 48 danish and n = 68 czech), 83 patients with gestational diabetes mellitus (gdm), 34 type 1 diabetic patients screened negative for glutamic acid decarboxylase (gad), and 96 glucose tolerant individuals. |
| 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- 20200315 | Mtnr1b was sequenced in 47 probands with clinical maturity-onset diabetes of the young (mody), in 51 probands with early-onset familial type 2 diabetes, and in 94 control individuals. |
| 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. |