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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease maturity-onset diabetes of the young
Comorbidity |maturity-onset diabetes of the young
Sentences 90
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- 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- 21700917 maturity-onset diabetes of the young (mody) is a rare monogenic form of diabetes and is often misdiagnosed as type 1 diabetes or type 2 diabetes (1,2).
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- 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- PMC4429118 maturity-onset diabetes of the young type 5 encompasses a wide clinical spectrum.
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- 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- 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- 24734255 The maturity-onset diabetes of the young (mody) is a familial monogenic form of early-onset type 2 diabetes, which usually develops in childhood, adolescence, or young adulthood [105].
PubMedID- 21829439 maturity-onset diabetes of the young (mody) [28].
PubMedID- 24586696 Heterozygous inactivating gck mutations cause maturity-onset diabetes of the young (mody), homozygous or compound heterozygous inactivating mutations cause permanent neonatal diabetes mellitus (pndm), and heterozygous activating mutations cause congenital hyperinsulinism (chi) [10].
PubMedID- 21193628 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- 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- 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- PMC3462912 Pndm, permanent neonatal diabetes mellitus; tndm, transient neonatal diabetes mellitus; mody, maturity-onset diabetes of the young; t1bdm, type 1b diabetes mellitus
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- 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- 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- 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- 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- 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- 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- 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- 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- 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- 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- 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- 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- 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- 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- 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.
PubMedID- 21189947 Mutations in the genes encoding hnf-1β produce an autosomal dominant disorder maturity-onset diabetes of the young, type 5 (mody5), also known as renal cysts and diabetes (rcad), because affected individuals present with severe cystic kidney disease40).
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- 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- 21324932 For example, point mutations in the gck gene give rise to maturity-onset diabetes of the young 2 (gck-mody2) in humans and to a similar phenotype in the mouse (e.g.
PubMedID- 25598768 Using wes in the maturity-onset diabetes of the young (mody) patients, the same research group found one mutation (p.glu227lys) in kcnj11, indicating that such mody patients can be ideally treated with oral sulfonylureas [51].
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.

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