PedAM
Pediatric Disease Annotations & Medicines
| Disease | maturity-onset diabetes of the young |
| Phenotype | |maturity-onset diabetes |
| Sentences | 137 |
| PubMedID- 25506511 | Mutations in hnf1β (also known as tcf2, previously discussed) have been associated with maturity-onset diabetes of the young renal dysfunction and müllerian aplasia [92]. |
| PubMedID- 22837374 | Patients with maturity-onset diabetes of the young, type 2 diabetes, or secondary diabetes were excluded. |
| 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- 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- 24647409 | We have induced severe diabetes in pigs carrying a dominant-negative mutant hepatocyte nuclear factor 1-alpha (hnf1α) p291fsinsc, a maturity-onset diabetes of the young type-3 (mody3) gene in humans. |
| 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- 26311117 | In human, hnf-1b was first described to be associated with disease in 1997 that heterozygous germline mutations in hnf-1b cause maturity-onset diabetes of the young, subtype 5(mody5)5. in adults, hnf-1b is strongly expressed in the biliary system and is also expressed in the periportal hepatocytes6. |
| 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- 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- 22008945 | 2006), maturity-onset diabetes of the young (mody) (ellard et al. |
| 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- 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- 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- 23166422 | Among young-onset, non-insulin-dependent diabetes, distinguishing type 2 diabetes from maturity-onset diabetes of the young (mody) on the basis of family history can be problematic. |
| 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- 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- 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- 20067960 | Youth with maturity-onset diabetes of the young, hybrid, other, or missing type were excluded (n = 7). |
| 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- 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- 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- 25802718 | Thus, heterozygous inactivating mutations cause familial, mild fasting hyperglycemia, also known as maturity-onset diabetes of the young type 2 (mody2). |
| PubMedID- 26404250 | Obesity, vascular diseases, elevated androgen levels, tobacco, and alcohol abuse, as well as syndromic diseases (mccune-albright syndrome, glycogen storage disease type 1a, and maturity-onset diabetes of the young (mody) type 3, familiar adenomatous polyposis (fap)) add to the known risk factors for hca [2,3,4] (figure 1). |
| PubMedID- 22110178 | (2), which demonstrated that high-sensitivity c-reactive protein (hs-crp) levels are lower in hepatocyte nuclear factor 1-α (hnf1a) maturity-onset diabetes of the young (mody) patients in comparison with other forms of diabetes, including type 2 diabetes. |
| 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- 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- 23704680 | Among the disease features are the balance between insulin deficiency and insulin insensitivity, fasting versus postprandial hyperglycemia, short versus long disease duration, and special circumstances such as maturity-onset diabetes of the young (mody) or latent autoimmune diabetes in adulthood (lada). |
| 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- 22291974 | In contrast, homozygous inactivating mutations cause complete gk deficiency and permanent neonatal diabetes mellitus (pndm), whereas heterozygous inactivating mutations cause familial, mild fasting hyperglycaemia also known as maturity-onset diabetes of the young type 2 (mody2; [10] [11]). |
| 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- 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- 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- 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- 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- 20664687 | Subjects with type 1 diabetes, gestational diabetes, and mody (maturity-onset diabetes of the young) were excluded from this study. |
| 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). |
| PubMedID- 21951399 | Diabetes caused by a single gene mutation has also been called maturity-onset diabetes of the young (mody) [13,14]. |