eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | maturity-onset diabetes of the young |
| Comorbidity | |maturity-onset diabetes |
| Sentences | 90 |
| 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- 25790815 | An association with maturity-onset diabetes of the young (mody), type 3 and familial hepatic adenomatosis has been reported [36, 43, 44]. |
| 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- 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- 25619391 | Liraglutide is effective in patients with maturity-onset diabetes of the young (mody) 3, and produces lower hypoglycemic risk than glimepiride9. |
| 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- 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- 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- 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- 20174558 | Subjects with type 1 diabetes, gestational diabetes, and maturity-onset diabetes of the young (mody) were excluded from this study. |
| 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- 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- 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- 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- PMC3462912 | Pndm, permanent neonatal diabetes mellitus; tndm, transient neonatal diabetes mellitus; mody, maturity-onset diabetes of the young; t1bdm, type 1b diabetes mellitus |
| 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- 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- 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- 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- 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- 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- 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- 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- 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- 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- 24669230 | Patients with type 1, gestational, or maturity-onset diabetes of the young were excluded. |
| 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- 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- 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- 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- 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- 20863361 | Bmi: body mass index; gada: glutamic acid decarboxylase autoantibodies; iaa: insulin autoantibodies; ia-2a: insulinoma-associated antigen-2 autoantibodies; ica: islet cell antibodies; k-atp channel: atp-sensitive potassium channel; monogenic diabetes: maturity-onset diabetes of the young; ru: relative units. |
| PubMedID- 21829439 | maturity-onset diabetes of the young (mody) [28]. |
| PubMedID- 25723573 | In addition to cell-compartmental differences, pathways/processes such as “maturity-onset diabetes of the young (kegg pathways)”, “adipocytokine signalling pathway (kegg pathways)”, and processes involved in pancreas biology and development were found to be significant for the production of sappα but not for sappβ (see s10 supplementary information). |
| 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- 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- 20938745 | Non-autoimmune type 1 diabetes (t1dm)), maturity-onset diabetes of the young (mody), and early-onset type 2 diabetes (t2dm) (figs. |
| 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- 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- 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- 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- 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- 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- 24497937 | Among these pathways, six (glycolysis/gluconeogenesis, fatty acid metabolism, tyrosine metabolism, pyrimidine metabolism, peroxisome and maturity-onset diabetes of the young) were focused on metabolic pathways. |
| 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- 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- 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- 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- 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- 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). |
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