eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | maturity-onset diabetes of the young |
| Comorbidity | C0011860|maturity onset diabetes |
| Sentences | 66 |
| PubMedID- 22126607 | Ampk: amp-dependent kinase; atm: ataxia-telangiectasia mutated; cyp: cytochrome p450; dpp: diabetes prevention program; gwas: genome-wide association study; hba1c: glycated hemoglobin; mody: maturity onset diabetes of the young; pparg: peroxisome proliferator-activated receptor γ; snp: single nucleotide polymorphism; sur1: sulfonylurea receptor 1; t2d: type 2 diabetes; tcf7l2: transcription factor 7-like 2 gene; tripod: troglitazone in the prevention of diabetes; ukpds: united kingdom prospective diabetes study. |
| PubMedID- 21829703 | While it is well established that pdx1 (also known as maturity onset diabetes of the young [mody] 4 [6], [7], [8]) is required for mpc specification as well as for proper adult islet function [9], [10], [11], pdx1 has also recently been shown to regulate ngn3 directly in cooperation with hnf6 [12]. |
| PubMedID- 21569204 | In humans, more than 600 different mutations in the glucokinase gene (gck) have been detected in patients suffering from familial, mild fasting hyperglycaemia [gck maturity onset diabetes of the young (gck-mody), gck permanent neonatal diabetes mellitus, and gck congenital hyperinsulinism of infancy [6–11]. |
| PubMedID- 22654519 | maturity onset diabetes of the young (mody) was a term first used in the 1970s1,2 to describe inheritable diabetes distinct from type 1 (insulin-dependent) and type 2 (noninsulin-dependent) diabetes. |
| PubMedID- 20806066 | Mutations in the hnf4a gene are documented dominantly inherited maturity onset diabetes of the young (mody) [36]. |
| PubMedID- 21765850 | Cluster 4 comprises 292 differentially expressed genes, and the following genes were highlighted: integrin alpha x (itgax) and claudin 5 (cldn5) gene, involved in cell-cell adhesion; gap junction protein, alpha 5 (gja5) gene, involved in cell-cell signaling; hnf1 homeobox 1 transcription factor, involved in maturity onset diabetes of the young and circadian regulation of transcription; and gastrin (gast) and guanine nucleotide-binding protein 1 (gna1) gene, both involved in protein signaling pathway. |
| PubMedID- 22961571 | The clinical diabetes type assigned by the health care professional was obtained from medical records or physician reports and categorized as follows: type 1 (combining type 1, type 1a, and type 1b), type 2, and other types (including hybrid type, maturity onset diabetes of the young, type unknown by the reporting source, type designated as other, and missing type). |
| PubMedID- 24587801 | In their paper titled “chronic mild hyperglycemia in gck-mody patients does not increase carotid intima-media thickness” have examined carotid intima media thickness (cimt) in patients with glucokinase-mutation maturity onset diabetes of the young (gck-mody or mody2). |
| PubMedID- 24744783 | These diabetes cases present as familial, young onset, noninsulin dependent diabetes mellitus (maturity onset diabetes of the young or mody) and are inherited in a mendelian dominant pattern [75]. |
| PubMedID- 24843648 | Individuals who tested positive for anti‐glutamic acid decarboxylase antibodies and those diagnosed as having mitochondrial disease (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke‐like episodes [melas]) or maturity onset diabetes of the young were not included in the present study. |
| PubMedID- 21251264 | Two genes with variants leading to maturity onset diabetes of the young (mody), hepatic nuclear factor (hnf)-4alpha and hnf-1alpha, are known to directly bind to the promoter region of fabp-1 [38]. |
| PubMedID- 22532329 | May be explained by a genetic mutation in hnf1beta, which is associated with maturity onset diabetes of the young (mody) and renal hypodysplasia. |
| PubMedID- 22511885 | Consistent with its role in metabolism, mutations in hnf4α are associated with both maturity onset diabetes of the young (mody) and type 2 diabetes [6]–[9]. |
| PubMedID- 24069322 | Heterozygous mutations in the hnf1a gene, encoding the transcription factor hepatocyte nuclear factor-1 alpha, cause autosomal dominant inherited diabetes known as maturity onset diabetes of the young (mody). |
| PubMedID- 23869298 | Subsequently this group came to be called as maturity onset diabetes of the young and was shown to have an autosomal dominant mode of inheritance. |
| PubMedID- 25716801 | In contrast to human t2d, maturity onset diabetes of the young 3 is a monogenic disease and results from the mutations in hnf-1α transcription factor. |
| PubMedID- 20603712 | When diabetes occurs in mutation carriers, it can manifest as maturity onset diabetes of the young (mody) type 5, characterized by c-peptide being persistently detectable and a lack of pancreas autoantibodies [33]. |
| PubMedID- 20523905 | Heterozygous mutations in several genes encoding dna binding transcription factors cause autosomal dominant diabetes, or maturity onset diabetes of the young (mody) [14]–[16], [18]. |
| PubMedID- 21352552 | Defects in hnf4α function have been linked to the human disease maturity onset diabetes of the young 1(mody1) that results from haploinsufficiency of hnf4a gene [12]. |
| PubMedID- 21709282 | On the other hand, gck (glucokinase) mutations increase risk for both low birth weight and diabetes (maturity onset diabetes of the young 2) when inherited from either parent but increase birth weight when carried by the mother due to the hyperglycemic environment they create (12). |
| PubMedID- 25422773 | Patients having type 1 diabetes, gestational diabetes and maturity onset diabetes of the young were excluded from the study. |
| PubMedID- 25886725 | In addition, we noticed there were 489 deus (34.4%) implicated in disease pathways and microorganism infection, including amoebiasis, parkinson’s disease, huntington’s disease, maturity onset diabetes of the young and vibrio cholera infection, pathogenic escherichia coli infection, staphylococcus aureus infection and epstein-barr virus infection. |
| PubMedID- 21294859 | Type 1 and type 2 diabetes and maturity onset diabetes of the young (mody). |
| PubMedID- 20668691 | Uag down-regulated gene sets (table s2) relating to fatty acid, cholesterol/steroid and glucose/carbohydrate metabolism, and mitochondrial respiration (oxphos and krebs/tca cycle pathways), as well as gene sets linked with t2d and maturity onset diabetes of the young (mody), and insulin signaling. |
| PubMedID- 25737948 | Although mutations in the gck gene cause maturity onset diabetes of the young type 2 (mody2), gck mutations are not found in the etiology of classical t2d. |
| PubMedID- PMC4428821 | maturity onset diabetes of the young (mody) is frequently misdiagnosed as type 1 or type 2 diabetes. |
| PubMedID- 20863361 | Exclusion criteria were: clinically suspected type 2 diabetes, diabetes in 3 consecutive generations with onset before age 25 (to exclude maturity onset diabetes of the young (mody)), secondary diabetes, decline of enrolment into the study, and patients initially treated outside the centers for more than 5 days. |
| PubMedID- 24369921 | For example, mody (maturity onset diabetes of the young) patients with mutation in the glucokinase gene presented with elevated fpg but generally without a significant increase in average hba1c and diabetes-related complications [28]. |
| PubMedID- 21331741 | Subjects who tested positive for anti-glutamic acid decarboxylase antibodies and those diagnosed with mitochondrial disease (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (melas)) or maturity onset diabetes of the young were not included. |
| PubMedID- 24843435 | For example, (i) includes defects in the insulin gene itself and maturity onset diabetes of the young (mody)24,25. |
| PubMedID- 24633305 | Transcription factor pdx1 (pancreatic duodenal homeobox-1, previously called ipf1, idx1, stf1, or iuf1) 14,15 is a key factor in beta-cell development and function 16. in humans, mutations in pdx1 gene can predispose individuals to develop maturity onset diabetes of the young (mody4) 17, suggesting that a critical role for pdx1 in mature beta-cells. |
| PubMedID- 24039891 | Additionally, we included twenty-three genes linked to maturity onset diabetes of the young (mody), neonatal diabetes (ndm), and chronic hyperinsulinemia (chi). |
| PubMedID- 25643857 | Of the remainder, 75 women had type 1 diabetes, 12 had type 2 diabetes, 2 were diagnosed with gdm in the first trimester and 1 had maturity onset diabetes of the young. |
| PubMedID- 24843427 | maturity onset diabetes of the young (mody) is a specific subtype of monogenic diabetes that develops as a result of ndna mutations associated with defects of β‐cell function. |
| PubMedID- 24497937 | maturity onset diabetes of the young (mody) is an autosomal dominant form of diabetes involving defective β cells. |
| PubMedID- 22682234 | The top 9 significant correlated pathways (p < 0.05) include “melanogenesis”, “calcium signalling pathway”, “abc transporters”, “vascular smooth muscle contraction”, “hypertrophic cardiomyopathy” “steroid biosynthesis”, “maturity onset diabetes of the young”, “regulation of actin cytoskeleton” and “pathways in cancer” (figure 8). |
| PubMedID- 21047794 | Human hnf4α gene mutations cause maturity onset diabetes of the young 1 (mody1) (8, 9), and the hnf4α ligands have been extended to include fatty acid metabolites (10–12). |
| PubMedID- 25768928 | The top pathways included the fxr/rxr activation (p = 7.4×10-09), lxr/rxr activation (p = 4.6×10-05), maturity onset diabetes of the young (mody) signaling (p = 7.6×10-05), hepatic cholestasis (p = 1.1×10-04) and acute phase response signaling (p = 1.3×10-04). |
| PubMedID- 23589285 | Alterations in klf11 function result in maturity onset diabetes of the young 7 (mody7) and neonatal diabetes; however, the mechanisms underlying the role of this protein in metabolic disorders remain unclear. |
| PubMedID- 23346036 | By definition, gdm encompasses women with pre-exiting t2dm, maturity onset diabetes of the young (mody), or even type 1 diabetes patients that were not diagnosed previously. |
| PubMedID- 24843456 | maturity onset diabetes of the young (mody) is a clinically heterogeneous group of disorders characterized by non‐ketotic diabetes mellitus and a group of monogenic diabetes disorders causing 2–5% of cases of type 2 diabetes42. |
| PubMedID- 20461074 | In humans, hnf4α mutations lead to an early onset diabetic disorder, maturity onset diabetes of the young (mody1) (yamagata et al, 1996). |
| PubMedID- 23565393 | maturity onset diabetes of the young (mody), caused by monogenic defects in β cell function, and onset before 25 years of age, accounts for 0.2% - 5% of pediatric and adolescent diabetes. |
| PubMedID- 22540250 | The ten loci associated included three loci in or near genes likely involved in glycemic control pathways: g6pc2 (glucose-6-phosphatase catalytic subunit 2, mim 608058), gck (glucokinase, maturity onset diabetes of the young (mody) 2, mim 138079), and mtnr1b (melatonin receptor 1b, mim 600804) and seven loci in or near genes likely to be involved in erythrocyte biology, including spta1 (spectrin alpha erythrocytic 1, mim 182860), hfe (hemochromatosis, mim 235200), ank1 (ankyrin 1, mim 612641), hk1 (hexokinase 1, mim 142600), apt11a (atpase class vi, type 11a, mim 605868), fn3k (fructosamine 3 kinase, mim 608425), and tmprss6 (transmembrane protease serine 6, mim 609862). |
| PubMedID- 24194887 | The pathway type ii diabetes mellitus (hsa04930) is directly associated with niddm, and maturity onset diabetes of the young (mody) (hsa04950), a monogenic form of niddm, is suffered by 2–5% diabetic patients [56]. |
| PubMedID- 22399922 | Mutations in the gck gene are associated with maturity onset diabetes of the young (mody), a subtype of diabetes characterized by monogenic autosomal dominant transmission, early age of onset (typically less than 25 years of age) and primary defects in β-cell function. |
| PubMedID- 23281828 | Many interacted pathways play a role in t2d genetic risks, which includes insulin signalling pathway, type ii diabetes pathway, maturity onset diabetes of the young, adipocytokine signalling pathway, and pathways in cancer. |
| PubMedID- 25723573 | C. “maturity onset diabetes of the young (mody) (kegg)” and "alzheimer's disease" pathways (kegg database). |
| PubMedID- 21788634 | The maturity onset diabetes of the young (mody) autosomal dominant disorders account for 1–5% of diabetes and are caused by a variety of genes affecting insulin secretion. |
| PubMedID- 20587063 | maturity onset diabetes of the young (mody) is a clinically heterogeneous group of disorders characterized by an autosomal -dominant mode of inheritance [42]. |
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