MODY (um tipo de diabetes que geralmente aparece em jovens ou adultos jovens) é uma forma rara e familiar de diabetes. Ele se manifesta de várias formas e é causado por diferentes alterações genéticas. Caracteriza-se por surgir em idade jovem (geralmente entre 10 e 45 anos) e por manter a produção de insulina pelo próprio corpo. Não é um diabetes autoimune (onde o sistema de defesa do corpo ataca as células do pâncreas), e geralmente não está associado à obesidade nem à resistência à insulina. Além disso, alguns tipos de MODY podem causar problemas em outras partes do corpo, além do pâncreas.
Introdução
O que você precisa saber de cara
MODY (um tipo de diabetes que geralmente aparece em jovens ou adultos jovens) é uma forma rara e familiar de diabetes. Ele se manifesta de várias formas e é causado por diferentes alterações genéticas. Caracteriza-se por surgir em idade jovem (geralmente entre 10 e 45 anos) e por manter a produção de insulina pelo próprio corpo. Não é um diabetes autoimune (onde o sistema de defesa do corpo ataca as células do pâncreas), e geralmente não está associado à obesidade nem à resistência à insulina. Além disso, alguns tipos de MODY podem causar problemas em outras partes do corpo, além do pâncreas.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 40 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 98 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
14 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.
Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promoter binding site. Isoform 2 appears to be a dominant negative form antagonizing PAX4 transcriptional activity
Nucleus
Type 2 diabetes mellitus
A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Transcription factor that binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:17924661, PubMed:7900999). Binds to the FPC element in the cAMP regulatory unit of the PLAU gene (By similarity). Transcriptional activity is increased by coactivator PCBD1 (PubMed:24204001)
Nucleus
Renal cysts and diabetes syndrome
An autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract.
Catalyzes the hydrolysis of a wide range of substrates including cholesteryl esters, phospholipids, lysophospholipids, di- and tri-acylglycerols, and fatty acid esters of hydroxy fatty acids (FAHFAs) (PubMed:10220579, PubMed:27509211, PubMed:27650499, PubMed:8471055). Preferentially hydrolyzes FAHFAs with the ester bond further away from the carboxylate. Unsaturated FAHFAs are hydrolyzed more quickly than saturated FAHFAs (By similarity). Has an essential role in the complete digestion of dietar
Secreted
Maturity-onset diabetes of the young 8 with exocrine dysfunction
An autosomal dominant form of diabetes characterized by a primary defect in insulin secretion, exocrine pancreatic dysfunction, altered pancreatic morphology, recurrent abdominal pain, and fecal elastase deficiency. Disease onset is at less than 25 years of age.
Serine/threonine-protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Acts as a MAPK kinase kinase kinase (MAP4K) and is an upstream activator of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway and to a lesser extent of the p38 MAPKs signaling pathway. Required for the efficient activation of JNKs by TRAF6-dependent stimuli, including pathogen-associated molecular patterns (PAMPs) such as polyinosine-polycytidi
CytoplasmBasolateral cell membraneGolgi apparatus membrane
Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2 gene transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. As part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Binds preferentiall
NucleusCytoplasm, cytosol
Pancreatic agenesis 1
A disease characterized by isolated hypoplasia or agenesis of the pancreas, pancreatic beta-cell failure resulting in neonatal insulin-dependent diabetes mellitus, and exocrine pancreatic insufficiency.
Regulator subunit of pancreatic ATP-sensitive potassium channel (KATP), playing a major role in the regulation of insulin release. In pancreatic cells, it forms KATP channels with KCNJ11; KCNJ11 forms the channel pore while ABCC8 is required for activation and regulation
Cell membrane
Leucine-induced hypoglycemia
Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine.
Inward rectifier potassium channel that forms the pore of ATP-sensitive potassium channels (KATP), regulating potassium permeability as a function of cytoplasmic ATP and ADP concentrations in many different cells (PubMed:29286281, PubMed:34815345). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is
Membrane
Hyperinsulinemic hypoglycemia, familial, 2
A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF2 is a common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF2 inheritance can be autosomal dominant or autosomal recessive.
Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling (By similarity). B-cell receptor (BCR) signaling requires a tight regulation of several protein tyrosine kinases and phosphatases, and associated coreceptors (By similarity). Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation (By similarity). Signaling through BLK plays an important role in transmitting signals through surface immunog
Cell membrane
Maturity-onset diabetes of the young 11
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitating the recruitment of RNA pol II to the promoters of target genes (PubMed:30597922). Activates the transcription of CYP2C38 (By similarity). Represses the CLOCK-BMAL1 transcriptional activity and is essential for circadian rhythm maintenance and period regulation in the liver and colon cells (PubMed:30530698)
Nucleus
Maturity-onset diabetes of the young 1
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Transcription factor (PubMed:10207080, PubMed:9748269). Activates the epsilon- and gamma-globin gene promoters and, to a much lower degree, the beta-globin gene and represses promoters containing SP1-like binding inhibiting cell growth (PubMed:10207080, PubMed:16131492, PubMed:9748269). Represses transcription of SMAD7 which enhances TGF-beta signaling (By similarity). Induces apoptosis (By similarity)
Nucleus
Maturity-onset diabetes of the young 7
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Insulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino acids and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver
Secreted
Hyperproinsulinemia
An autosomal dominant condition characterized by elevated levels of serum proinsulin-like material.
Multifunctional adapter protein that binds to various membrane receptors, nuclear factors and signaling proteins to regulate many processes, such as cell proliferation, immune response, endosomal trafficking and cell metabolism (PubMed:10490823, PubMed:15016378, PubMed:19661063, PubMed:26073777, PubMed:26583432). Regulates signaling pathway leading to cell proliferation through interaction with RAB5A and subunits of the NuRD/MeCP1 complex (PubMed:15016378). Functions as a positive regulator of i
Early endosome membraneNucleusCytoplasmEndosomeCell projection, ruffleCytoplasmic vesicle, phagosome
Maturity-onset diabetes of the young 14
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver (By similarity). Binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:10966642, PubMed:12453420). Activates the transcription of CYP1A2, CYP2E1 and CYP3A11 (By similarity) (Microbial infection) Plays a crucial role for hepatitis B virus gene transcription and DNA replication. Mechanistically, synergistically cooperates with NR5A2 to up-regulate the
Nucleus
Hepatic adenomas familial
Rare benign liver tumors of presumable epithelial origin that develop in an otherwise normal liver. Hepatic adenomas may be single or multiple. They consist of sheets of well-differentiated hepatocytes that contain fat and glycogen and can produce bile. Bile ducts or portal areas are absent. Kupffer cells, if present, are reduced in number and are non-functional. Conditions associated with adenomas are insulin-dependent diabetes mellitus and glycogen storage diseases (types 1 and 3).
Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory n
CytoplasmNucleus
Maturity-onset diabetes of the young 6
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Variantes genéticas (ClinVar)
660 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
33 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome MODY
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.087
Development of a Calculator for HNF1A- and HNF4A-MODY in Asian Indians.
We aimed to develop a calculator to determine the probability of having HNF1A-MODY (hepatocyte nuclear factor 1 alpha-maturity-onset diabetes of the young) or HNF4A (hepatocyte nuclear factor 4 alpha)-MODY (the commonest forms of MODY) in Asian Indians using clinical and biochemical criteria. We extracted data on individuals with young-onset diabetes aged <30 years (n = 29 191) from electronic records. Genetically confirmed HNF1A- and HNF4A-MODY (n = 55) were selected along with 1000 individuals each of type 1 diabetes (T1D) and type 2 diabetes (T2D). These data sets were used to develop a classification model using logistic regression. The model's performance was evaluated using receiver operating characteristic (ROC) curves in an internal data set and validated in an external data set. Eight predictive models were constructed, beginning with a basic model that included variables, such as age at diagnosis, body mass index (BMI), parental history, and glycated hemoglobin (HbA1c) (models 1 and 5). High-density lipoprotein (HDL) cholesterol was added in models 2 and 6, stimulated C-peptide in models 3 and 7, and all predictors were combined in models 4 and 8. Models 1 to 4, designed to distinguish MODY from T1D, achieved an ROC-area under the curve (AUC) value ranging from 0.884 to 0.957, while models 5 to 8, aimed at differentiating MODY from T2D, achieved an ROC-AUC value ranging from 0.914 to 0.936. All models demonstrated excellent performance in internal validation, with high five-fold cross-validation c-statistics. An online calculator using these models estimates MODY probability that is accessible at https://mdrf-t1d-calculator.shinyapps.io/MODY/. We developed an ethnicity-specific calculator to help identify individuals with possible HNF1A-MODY or HNF4A-MODY in Asian Indians. This user-friendly, web-based tool would be helpful to select candidates for genetic testing in this population.
Discovery and preclinical activity of the menin-KMT2A inhibitor ziftomenib in acute leukemia models.
The protein-protein interaction between menin and KMT2A (histone lysine methyltransferase 2A) plays a critical role in acute leukemia with KMT2A rearrangements, nucleophosmin 1 (NPM1) mutations and nucleoporin 98 rearrangements, and represents an emerging opportunity for therapeutic intervention. Here, we report development and comprehensive evaluation of the activity of ziftomenib as an orally bioavailable, highly potent and selective small molecule inhibitor of the menin-KMT2A interaction. In leukemia cells and primary patient samples with the menin-KMT2A dependency, ziftomenib profoundly inhibited proliferation, reduced clonogenic potential and induced differentiation, which was associated with strong downregulation of the menin-KMT2A target genes, including MEIS1, HOXA9 and HOXB2. In xenografts and patient-derived xenograft models of KMT2A-rearranged leukemia, ziftomenib induced leukemia regression or reduced leukemia burden, accompanied by a pronounced reduction of the menin-KMT2A target genes. We next assessed ziftomenib against four MEN1 (gene encoding menin) mutants (T349M, M327I, G331R, G331D) associated with clinical resistance to another menin inhibitor revumenib. Ziftomenib retained anti-leukemic activity against T349M mutant cells and demonstrated low-nanomolar potency (GI50≤25 nM) against G331R cells, despite several-fold reduced potency relative to MEN1 wild-type cells, whereas M327I and G331D mutants were resistant. The crystal structures of ziftomenib in complex with menin wild-type, T349M or G331R mutants revealed a similar binding mode of ziftomenib to these menin variants, rationalizing potent inhibitory activity towards these mutants. Ziftomenib has recently received FDA approval for adult patients with NPM1-mutated acute myeloid leukemia and continues to be evaluated clinically in leukemias with NPM1 or KMT2A alterations, both as monotherapy and in combinations.
Clinical Characterization of Atypical Diabetes: Insights from the GENEPEDIAB Study into the Spectrum Between Type 1 and Monogenic Diabetes.
Type 1 diabetes (T1D) shares clinical characteristics with other forms of diabetes, particularly monogenic diabetes such as maturity-onset diabetes of the young (MODY). Differential diagnosis is complicated by the existence of intermediate phenotypes. We aimed to delineate the phenotypic continuum between T1D and monogenic diabetes. The multicentric GENEPEDIAB study included patients aged 6 months to 18 years diagnosed with diabetes and treated for either T1D or monogenic diabetes. Analyses comprised glycemic variability, continuous glucose monitoring metrics, application of the DIAMODIA criteria, and genetic investigations. A gradient was observed across T1D, atypical diabetes (Adia), and MODY cohorts for several glycemic parameters. T1D patients exhibited values furthest from treatment targets, whereas MODY patients showed better glycemic control. Stratification of the Adia cohort according to the number of positive DIAMODIA criteria further supported this trend, as demonstrated by glycemic measures and multiple correspondence analysis. Genetic analyses did not identify a uniform causative variant in the Adia cohort; however, several rare variants, including variants of uncertain significance and likely pathogenic variants in diabetes-related genes, were detected. These findings showed, in our specific cohort of pediatric patients, the existence of a phenotypic gradient between T1D and monogenic diabetes, with atypical diabetes occupying an intermediate position, including when stratified by DIAMODIA criteria.
Efficacy and Tolerability of Topotecan/Cyclophosphamide/Dinutuximab in Relapsed and Refractory High-Risk Neuroblastoma: A Multi-Institutional Retrospective Study.
Chemoimmunotherapy with irinotecan, temozolomide, and dinutuximab (I/T/DIN) has emerged as first-line therapy for relapsed/refractory (r/r) high-risk neuroblastoma (HRNB) in North America. Topotecan and cyclophosphamide (T/C) are often used in combination with dinutuximab in the setting of lack of response, progression, or incomplete response following I/T/DIN, but efficacy and tolerability are unknown. Eligible patients received one or more cycles of T/C/DIN for r/r HRNB. Response was assessed using the 2017 International Neuroblastoma Response Criteria. Fifty-four patients with r/r HRNB were included. Patients received a median of four cycles of T/C/DIN (range = 1-16); 48 (89%) had previously received I/T/DIN. Twenty-three patients (42.6%) had an objective response (complete/partial/minor; OR) to T/C/DIN, 21 (38.9%) had stable disease, and 10 (18.5%) had progressive disease as best response. Among patients who previously received I/T/DIN, objective response rate (ORR) to T/C/DIN was 54% in those with prior OR to I/T/DIN and 23% in those without prior OR (adjusted odds ratio 4.40, 95% confidence interval [CI]: 1.09-17.75). Patients who had experienced on-therapy progression with I/T/DIN had a similar ORR to T/C/DIN compared to those who never progressed (38% vs. 41%, p = 1.0). Twenty-one patients (39%) required T/C/DIN dose modification-11 (52%) due to hematologic toxicity. Seven patients (13%) discontinued T/C/DIN due to toxicity. T/C/DIN is an effective regimen for patients with r/r HRNB, producing ORRs similar to prior reports in chemoimmunotherapy-naïve patients treated with I/T/DIN. Prior chemoimmunotherapy response may predict response to T/C/DIN, but even patients who progress while receiving I/T/DIN may benefit from the T/C/DIN combination.
A customized CNN model for signature authentication-Forensic implications.
Signature authentication refers to the verification whether the signature is legitimate or forged and is executed by the person who is claiming to have signed it. The main objective of the present research was to customize a deep learning-based convolutional neural network (CNN) model trained on a primary dataset for signature authentication. The model was trained, validated, and tested on the dataset of the 1400 signature images (700 genuine and 700 forged) primarily obtained from the study participants. The signature samples were equally divided into a train (1000 samples comprising 500 forged and 500 genuine signatures) and a test dataset (400 samples comprising 200 forged and 200 genuine signatures) as per the requirements of the model's training and testing procedure. The model's architecture was optimized with different hyperparameters to achieve a higher accuracy rate. The results show that the proposed model attains the training, validation and testing accuracy of 97.32%, 97.92%, and 84.5% respectively. Furthermore, other evaluation matrices were also computed, including precision, recall (sensitivity), F1-score, and specificity with the values of 85%, 84%, 84%, and 90%, respectively. The accuracy matrices provide better performance over the other existing methods. This customized CNN architecture can be trained on larger datasets and directly deployed in the field of forensic science for signature examination. The study has wide-ranging applications in the banking sector, forensic document examination, courtrooms, and beyond.
Publicações recentes
Insights from maturity-onset diabetes of the young into impaired insulin secretion in type 2 diabetes.
Prediction of maturity-onset diabetes of the young subtypes using machine learning.
Impact of Genetic Testing in Endocrinology Practice: A Single-Centre Experience Focused on Lipid and Monogenic Diabetes Disorders.
The conundrum in diagnosing Maturity-Onset Diabetes of the Young (MODY) in a large German pedigree with early-onset diabetes and a novel HNF1A variant.
A worldwide perspective on clinical characteristics and treatment of youth with monogenic diabetes in the SWEET registry.
📚 EuropePMC752 artigos no totalmostrando 194
The effect of vericiguat on sudden cardiac death: insights from the VICTOR trial.
European journal of heart failureDevelopment of a Calculator for HNF1A- and HNF4A-MODY in Asian Indians.
Journal of diabetes science and technologyAge- and diet-dependent progression of retinal microvascular injury in GCK-MODY under metabolic stress.
Frontiers in endocrinologyNanotechnology-Based Strategies for Glioblastoma: Diagnostic and Therapeutic Advances.
Current neuropharmacologyProgress of HIV care cascade and transition dynamics along the continuum of care among persons living with HIV in Ifakara, Tanzania: a prospective study.
BMC infectious diseasesDiscovery and preclinical activity of the menin-KMT2A inhibitor ziftomenib in acute leukemia models.
BloodPolygenic background contributes to GCK-MODY clinical presentation and glycaemic variability.
DiabetologiaDiverse and rare candidate MODY gene variants were identified in one-fifth of a Bangladeshi cohort with nonobese, nonautoimmune youth-onset diabetes.
Scientific reportsClinical Predictors of Nose/throat Bacteriome and Fungal Colonization in Skilled Nursing Facility Residents.
The Journal of infectious diseasesClinical Characterization of Atypical Diabetes: Insights from the GENEPEDIAB Study into the Spectrum Between Type 1 and Monogenic Diabetes.
CellsEfficacy and Tolerability of Topotecan/Cyclophosphamide/Dinutuximab in Relapsed and Refractory High-Risk Neuroblastoma: A Multi-Institutional Retrospective Study.
Pediatric blood & cancerSurvival after salvage pulmonary resection for non-small cell lung cancer: a national cancer database analysis.
Journal of thoracic diseaseLipid-dependent uncoupling of agonist binding and channel gating in the nicotinic acetylcholine receptor.
Biophysical reviewsCase Report: Identification of a HNF1A exons 1-10 heterozygous deletion in a Chinese MODY family.
Frontiers in endocrinologyDevelopment, optimization, and in vitro assessment of abuse-deterrent formulation.
Journal of opioid managementSystematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODY.
DiabetologiaGenotype-phenotype correlations of fasting C-peptide and lipids in HNF1A-MODY: a single-center series and multi-center cross-sectional analysis in Chinese population.
Frontiers in endocrinologyDeciphering Silence: Functional Studies of GCK Synonymous and Nonsense Variants and Their Importance in Understanding Diabetes.
GenesReview Article: Overview of Clinical Genetics of Diabetes Mellitus.
GenesIntegrated transcriptome and proteome analyses unveil cytoskeletal alterations in an endothelial model of monogenic diabetes.
Genome medicineExperimental quantification of resistance to subsidence conferred by endplate-specific expandable implants in anterior lumbar interbody fusion.
Journal of orthopaedic surgery and researchLow prevalence of GCK gene mutations in Chinese patients with gestational diabetes mellitus.
Clinics (Sao Paulo, Brazil)Protocol for automated analysis of biological images using Python code.
STAR protocolsApproach to large thrombus burden in ST-elevation myocardial infarction.
Frontiers in cardiovascular medicineApplications of genetic testing in cardiovascular disease.
Current opinion in cardiologyReduced Liver Fat Content in GCK-MODY Patients Compared With Healthy Individuals Without Diabetes.
Diabetes careHigh prevalence of maturity-onset diabetes of the young in the Czech Republic: A 25-year nationwide registry-based study.
Diabetic medicine : a journal of the British Diabetic AssociationRFX6 expression is central to the development and function of the neuroendocrine compartments of the pancreas and intestine and strongly affects diabetes risk.
Diabetology internationalProbing the effects of protein glycosylation on transcription with induced-proximity tools.
Nature reviews. Molecular cell biologyCase Report: Nephrocalcinosis from pancreatic hypoplasia in HNF1B disease: a multigenerational expression with genetic confirmation in the youngest generation.
Frontiers in medicineIdentification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice.
Frontiers in endocrinologyC-peptide in Precision Diabetes Care and Beyond: A Comprehensive Review.
Clinical medicine insights. Endocrinology and diabetesEndocrine Care During Transition in Emerging Adults With Cystic Fibrosis: A Single Center Retrospective Study.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsA customized CNN model for signature authentication-Forensic implications.
Medicine, science, and the lawSearch for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.
Acta diabetologicaProgression of diabetic retinopathy during pregnancy in a woman with ABCC8-MODY.
Endocrinology, diabetes & metabolism case reportsHLA-guided identification of monogenic diabetes in antibody-negative type 1 diabetes: frequency and characteristics.
Diabetes & metabolismTicagrelor vs Prasugrel in Patients With Diabetes and Multivessel Coronary Artery Disease: The TUXEDO-2 Randomized Clinical Trial.
JAMA cardiologyUtility of next-generation sequencing for the genetic study of MODY diabetes.
The Journal of endocrinologyReducing Potentially Inappropriate Medication Use for Older Adults in the Emergency Department-A Safer Script.
JAMA internal medicineSARS-CoV-2 infection and sleep health in Military Health System beneficiaries.
Sleep advances : a journal of the Sleep Research SocietyNovel variation in the CEL gene causing impaired fasting glucose in a Chinese pediatric patient: case report and literature review.
Frontiers in endocrinologyEvaluation of rare NR1D2 variants in MODY-X: clinical, genetic, and in silico insights.
Journal of endocrinological investigationAntiphospholipid Syndrome in Orthopaedic Foot and Ankle Surgery: A Propensity-Matched Analysis.
Foot & ankle orthopaedicsRFX6 maturity-onset diabetes of the young: clinical considerations and novel use of tirzepatide.
Endocrinology, diabetes & metabolism case reportsNovel variants of monogenic diabetes and impact of genetic diagnosis on treatment strategies.
Frontiers in medicineComprehensive Phenotype and Treatment Description of Mitochondrial Diabetes: Insights From a Large Cohort Study.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsBurden of malaria among children aged 5-10 years in the Sahelian area: do we need to adapt seasonal malaria chemoprophylaxis?
BMC infectious diseasesGenomic Insights into Unspecified Monogenic Forms of Diabetes and Their Associated Comorbidities: Implication for Treatment.
Current issues in molecular biologyGenetic diversity and molecular mechanisms in hypertrophic cardiomyopathy: toward personalized therapy.
American journal of physiology. Heart and circulatory physiologyAssociation Between Non-Tobacco Nicotine Dependence and Postoperative Complications After Ankle and Hindfoot Arthrodesis.
Foot & ankle internationalStudy of the ovarian function and gyneco-obstetrical profile of patients with an HNF1B abnormality.
European journal of obstetrics, gynecology, and reproductive biologyAnalysis of Mutation Site Structure Prediction and Family Characteristics of Maturity-Onset Diabetes of the Young (MODY) with Ketosis: Caused by HNF4α Gene Mutation.
Neuro endocrinology lettersEffect of class IV LASER therapy along with Low-dye kinesio-taping technique or plantar fascia stretching on pain, pain pressure threshold, and disability in individuals with plantar fasciitis: Double-blinded randomized clinical trial.
Lasers in medical sciencePrEParing for Long-acting Technologies: A Multistate Analysis of PrEP Persistence and HIV and STI Lab Coverage Among Oral PrEP Initiators in St. Louis, Missouri (2014-2021).
Open forum infectious diseasesClinical outcomes in acute myocardial infarction cardiogenic shock patients supported with the Impella 5.5, high-flow, surgically implanted micro-axial flow pump.
The Journal of thoracic and cardiovascular surgerySuccessful Use of Recombinant Tissue Plasminogen Activator in an Extremely Low Birth Weight Premature Infant for the Resolution of Multiple Thrombi.
AJP reportsComparing expert assessments of research quality between the Global North and East Africa.
Philosophical transactions of the Royal Society of London. Series B, Biological sciencesPDX1 phosphorylation at S61 by mTORC1 links nutrient signaling to β cell function and metabolic disease.
Cell reportsSmall molecule splicing modulators that disrupt O-GlcNAc homeostasis.
Nature communicationsEmpagliflozin in HNF1A-MODY (MODY3)-a Randomized, Double-Blind, Placebo-Controlled, Crossover Trial.
Diabetes careSkilled Nursing Facilities and Sufficient Bed Capacity-No Room at the Inn.
JAMA internal medicineThe effect of GLP-1 receptor agonists on cognition in nondiabetic patients with mild cognitive impairment or alzheimer's disease: a meta-analysis of randomized controlled trials.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyFunctional Characterization of Glucokinase Variants to Aid Clinical Interpretation of Monogenic Diabetes.
International journal of molecular sciencesGenetic Characterization of MODY in Iranian Families Using Multigenerational-Based Whole-Exome Sequencing Approach.
Journal of diabetes researchBreakpoint-resolved balanced t(2;12)(q35;q24.31) disrupting HNF1A in multigenerational MODY-3: Diagnostic utility of long-read genome sequencing and therapeutic impact.
Metabolism openOptimizing SMILES token sequences via trie-based refinement and transition graph filtering.
Journal of cheminformaticsdentification and characterization of novel PAX4 variants in patients with suspected MODY9.
BMJ open diabetes research & careConcurrent hepatic adenomatosis and hemangiomatosis in a patient with HNF1A MODY.
BMJ case reportsManagement and outcomes in pregnant patients with monogenic diabetes due to pathogenic variants in GCK and HNF1A genes.
Frontiers in endocrinologyComposite Digenic Diabetes Linked to Heterozygous Variants of <italic>GCK</italic> and <italic>NEUROD1</italic>: A Case Report.
Hormone research in paediatricsNon-type 1 and non-type 2 diabetes in a young man due to novel mutation in HNF1A.
BMJ case reportsDepression and the revolving door of HIV care: using multistate approaches to understand complex longitudinal exposure/outcome relationships among a cohort of people entering HIV care in Cameroon from 2019 to 2020.
BMJ public healthDuration-dependent alterations of lipid profiles and microvascular complications in GCK-MODY.
Biochimica et biophysica acta. Molecular basis of diseaseGliclazide Challenge Testing as an Alternative Diagnostic Tool for Hepatocyte Nuclear Factor-1-Alpha Maturity Onset Diabetes of the Young.
European journal of case reports in internal medicineExome Sequencing of a Type 1 Diabetes Mellitus Family Exposes Both Common and Individualized Rare Variants Contributing to Pathogenesis.
Journal of diabetes researchInflammatory arthritis in people living with HIV on anti-retroviral therapy in a high burden setting in South Africa.
HIV research & clinical practiceRevealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center Experience.
Pediatric diabetesCoexistence of Maturity-Onset Diabetes of the Young Type 3 (MODY 3) and Diabetic Ketoacidosis: A Report of a Rare Case.
CureusTargeted protein O-GlcNAc reveals transcriptional functions for O-GlcNAc.
Cell chemical biologyWhy all MODY variants in transcription factor genes are dominantly inherited.
Frontiers in geneticsComparing auditory vs. virtual reality relaxation in reducing dental anxiety.
Frontiers in dental medicineTrends and clinical features of childhood diabetes subgroups: 28 years of single center experience.
The Turkish journal of pediatricsPediatric Oncology Patients With Germline Pathogenic Variants in Adult-Onset Cancer Predisposition Genes.
JCO precision oncologyThe role of small, dense lipoproteins in type-2 diabetes and maturity-onset diabetes of the young (MODY): What's new.
Journal of diabetes and its complicationsThe TRANSEVER registry - A prospective, open-label, multicentre, post market surveillance study of ISAR SUMMIT polymer-free Everolimus eluting stent in a real-world Indian population of patients with coronary artery disease: One-year outcomes of the first 500 enrolled patients.
International journal of cardiologyEsophageal cancer staging in Malawi: the feasibility of chest radiography and abdominal ultrasound for initial evaluation.
BMC gastroenterologyIn silico analysis of missense SNPs in APPL1 gene: implications on APPL1-AKT2 complex and its relation to MODY 14.
Journal of biomolecular structure & dynamicsMaturity-Onset Diabetes of the Young (MODY) Presenting With a Diabetic Foot Ulcer: A Case Report.
CureusCommentary: The heart of the matter: Prioritizing wellness in cardiothoracic training.
The Journal of thoracic and cardiovascular surgeryCurrent treatment for diabetes: a holistic approach.
Hormones (Athens, Greece)MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.
DiabetesThe Importance of Real-World Evidence to Inform RSV Vaccine Guidance.
JAMA internal medicineNovel Kruppel-like factor 11 variant of maturity-onset diabetes of the young type 7: A case report.
World journal of diabetesClinical and cost-effectiveness of non-invasive cell-free DNA testing to optimise foetal outcomes for women with monogenic diabetes due to inactivating glucokinase gene mutations: a case series.
Internal medicine journalNovel Use of Glucagon-Like Peptide-1 (GLP-1) and Dual Glucose-Dependent Insulinotropic Polypeptide (GIP)/GLP-1 Receptor Agonists in Maturity-Onset Diabetes of the Young (MODY).
CureusLoGCC: Local-to-Global Correlation Clustering for Scalar Field Ensembles.
IEEE transactions on visualization and computer graphicsCase Report: NEUROD1 c.-108G>C mutation in a ketosis-prone MODY6 patient: implications for genetic testing and DPP-4 inhibitor therapy.
Frontiers in endocrinologyAdvancing pest control: evaluating the effectiveness of RNAi and the BenPol delivery platform for Lucilia cuprina.
Pest management scienceDevelopment of production methodologies for scFv-Fc conjugated critical reagents to support CAR-T clinical programs.
BioanalysisGender differences in the distribution of IDL, LDL, and HDL lipoprotein subfractions in MODY compared to type 2 diabetes: Data from the MODY-Ist study.
Journal of diabetes and its complicationsTreatment Outcomes of Esophageal Cancer in Malawi: An Analysis of Overall Survival and Patient-Reported Outcomes.
JCO global oncologyObstructive Sleep Apnea, Resting Heart Rate, and Glycemic Variability in Adults With Maturity-Onset Diabetes of the Young.
DiabetesGene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia.
Molecular syndromologyLong-Chained Fatty Acid-Based Solid Dispersions of Voriconazole as an Effective Strategy For Achieving Sustained Release.
AAPS PharmSciTechEarlier Orthopaedic Surgeon Evaluation of Workers' Compensation Associated With Higher Return to Full Duty After Shoulder Arthroscopy.
Journal of the American Academy of Orthopaedic Surgeons. Global research & reviewsDifferent diabetes types and pancreatic ductal adenocarcinoma: a Mendelian randomization and pathway/gene-set analysis.
Journal of the National Cancer InstitutePDX-1 related diabetes: a case series of two families highlighting challenges in MODY diagnosis.
Acta diabetologicaMODY PDX1P33T: a mouse model reveals phenotypic divergence from human disease.
Frontiers in endocrinology[Lessons learned from a misdiagnosed case of MODY diabetes: Implications for clinical practice].
SemergenAdditive Effects of Dorzagliatin and Glucagon-Like Peptide 1 Receptor Agonism in a Novel Mouse Model of GCK-MODY and in Obese db/db Mice.
DiabetesImpact of Prior Ipsilateral Arthrodesis on Subsequent Ankle and Subtalar Fusion Outcomes: A Propensity-Matched Cohort Study.
Foot & ankle internationalBreaking Through Barriers: The Transformative Potential of Nanomedicine in Overcoming Drug Delivery Challenges for Psychiatric Disorders.
CNS & neurological disorders drug targetsGlycemia, management and outcomes of pregnant women with maturity-onset diabetes of the young - a single-center case series.
Journal of diabetes and its complicationsA Simultaneous Mixed-Methods Examination of Factors Influencing Intent-to-Leave Among Nursing Home Care Providers in 25 Long-Term Care Facilities.
Journal of the American Medical Directors AssociationPopulation prevalence, penetrance, and mortality for genetically confirmed MODY.
The Journal of clinical endocrinology and metabolismCaloric Restriction Substantially Improves Glucose Regulation in Mice With Hnf1a-Deficient Beta-Cells.
Acta physiologica (Oxford, England)Sleep patterns in adults and children with less common forms of diabetes.
Frontiers in endocrinologyRare BLK, CEL, KLF11, PDX1, and PAX4 Gene Variants in Russian Patients with Monogenic Diabetes: Clinical and Molecular Characterization.
BiomedicinesBeyond the Cup: Coffee Extracts as Modulators of Periodontal Inflammation and Bone Remodeling.
Current issues in molecular biologySpontaneous Ventriculoperitoneal Shunt Extrusion in a Child With Recurrent Meningitis.
Clinical pediatricsCoexistence of T1DM and GCK-MODY: Case Report and Literature Review.
Journal of clinical research in pediatric endocrinologyMultisociety guidance for infection prevention and control in nursing homes.
Infection control and hospital epidemiologyOnline Digital Health Intervention-Safe and Scalable.
JAMA internal medicineHNF1α-Q125ter-mediated mitochondrial dysfunction and impaired mitophagy in β-cells.
Journal of molecular endocrinologyAssessment of selective salivary properties and taste perception in subjects with oral submucous fibrosis - A case-control study.
Journal of oral biology and craniofacial researchEnhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia.
Communications medicineTransitioning adolescents with rare forms of diabetes to adult care: challenges and perspectives.
Endocrine connectionsToward Data-Driven MODY Panels: Strong Evidence for NEUROD1 and PDX1, Limited Support for APPL1 and WFS1.
DiabetesComparative evaluation of demineralized freeze-dried bone allograft with and without doxycycline hyclate loaded proniosomal gel in the treatment of class II furcation defects: a randomized controlled trial.
Clinical oral investigationsGCK Mutation Analysis and Clinical Profiles of Chinese Pediatric Patients with MODY2: Insights into Screening and Diagnosis.
Pediatric health, medicine and therapeuticsDiabetes mellitus HNF4A-MODY in children from the Russian population: clinical and genetic features.
Frontiers in endocrinologySwiss Diabetes and Technology recommendations.
Swiss medical weeklyPediatric PET/MRI: Imaging Techniques, Indications, and Clinical Implementation.
Radiographics : a review publication of the Radiological Society of North America, IncMaturity-onset diabetes of the young due to HNF1β variants (HNF1β-MODY): a 2-year follow-up study of six patients from a single diabetes center.
Journal of pediatric endocrinology & metabolism : JPEMArtificial Intelligence and Clinical Care: JAMA Internal Medicine Call for Papers.
JAMA internal medicineAntibody-Positive Type 1 Diabetes in a Family With a Pathogenic HNF1A-MODY Variant and Variable Age of Onset.
JCEM case reportsThe effect of COVID-19 and sex differences on natural killer cell cytotoxicity.
Frontiers in cellular and infection microbiologyCase Report: Misdiagnosis of Maturity-Onset Diabetes of the Young as type 1, type 2 or gestational diabetes: insights from a Latin American tertiary center.
Frontiers in medicineA Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.
JCEM case reportsChromosomal instability degrades developmental phenotypes essential for anti-GD2 immunotherapy outcomes in high-risk neuroblastoma.
Cell reports. MedicineInvestigating the Hemorheological, Metabolic, and Physical Performance Effect of a Core Muscle Strengthening Training Program.
Life (Basel, Switzerland)Accelerating antibody development: sequence and structure-based models for predicting developability properties via size exclusion chromatography.
mAbsI-BET151 modulates glucokinase gene expression and beta cell function in part through changes in FOXO1 expression.
DiabetologiaExhausted-like effector CD8 T cells mediate immune-stromal interactions at mucosal Chronic Graft-versus-Host Disease onset.
bioRxiv : the preprint server for biologyGenotype-Phenotype Discrepancies in Family Members With a Novel Glucokinase Mutation: Insights Into GCK-MODY and Its Interplay With Insulin Resistance.
DiabetesPredicting CSR authenticity in healthcare organizations: an integrated SEM-IPMA-ANN approach through the lens of self-compassion theory.
Journal of health organization and managementImproving Risk Prediction in Complex High-Risk Percutaneous Coronary Intervention: Addressing Missing Data, Calibration, and Clinical Utility.
The Canadian journal of cardiologyMODY: Strategies for a unique form of diabetes.
Journal of education and health promotionDevelopment of a Chinese-Specific Clinical Model to Predict Maturity-Onset Diabetes of the Young.
Diabetes/metabolism research and reviewsDiazoxide and Continuous Glucose Monitoring as Treatment in a Neonate with Hyperinsulinemic Hypoglycemia due to HNF4A Mutation.
Journal of clinical research in pediatric endocrinologySulphonylurea efficacy and end-organ outcomes in the management of HNF4A-MODY.
Diabetic medicine : a journal of the British Diabetic AssociationCirculating Tumor DNA and Tissue Testing for Pancreatobiliary Tumors.
JAMA network openEnhanced guidance on artificial intelligence for medical publication and communication professionals.
Current medical research and opinionEnzyme-Activated Sugar-Coated Bifunctional Degraders.
Journal of the American Chemical SocietyAmorphization of Albendazole Using Organic Acid-based Solid Dispersions for Improved Dissolution: A Solvent-free Approach.
AAPS PharmSciTechBridging the Gap Between Training and Reality: A Dental Scientist Trainee Perspective.
Journal of dental educationCommon genetic variants modify disease risk and clinical presentation in monogenic diabetes.
Nature metabolismCortical versus hippocampal network dysfunction in a human brain assembloid model of epilepsy and intellectual disability.
Cell reportsEndocrinologist-led genomic testing for monogenic diabetes in adult diabetes clinics: a feasibility and outcome study.
Diabetes research and clinical practiceSkilled Nursing Facility Population Characteristics and Length of Stay: A Prospective Cohort Study.
Journal of the American Medical Directors AssociationTailored Therapies for Hereditary Diabetes: Unraveling the Genetic Underpinnings of MODY and Neonatal Diabetes.
Current gene therapyIdentifying care gaps along the HIV treatment failure cascade: A multistate analysis of viral load monitoring, re-suppression, and regimen switches in Zambia.
PLoS medicineVericiguat in patients with chronic heart failure and reduced ejection fraction (VICTOR): a double-blind, placebo-controlled, randomised, phase 3 trial.
Lancet (London, England)Vericiguat for patients with heart failure and reduced ejection fraction across the risk spectrum: an individual participant data analysis of the VICTORIA and VICTOR trials.
Lancet (London, England)Methodological and Statistical Concerns Regarding "Can Sodium-Glucose Co-Transporter-2 Inhibitors Improve Sleep Quality, Anxiety, and Quality of Life in Patients With Heart Failure?".
Clinical cardiologyTorsades de Pointes Following Massive Transfusion Protocol: Case Highlighting Electrolyte Disturbances After Blood Product Administration.
JACC. Case reports[Analysis of a family with maturity-onset diabetes of the young type 6 due to a mutation in the NEUROD1 gene].
Zhonghua yi xue za zhiGenetic and Clinical Characteristics of Monogenic Diabetes in Japan: A Nationwide Study by the Japan Diabetes Society.
The Journal of clinical endocrinology and metabolismCost-Effectiveness Thresholds for Venous Thromboembolism Prophylaxis in Ankle Fracture Surgery: A Break-Even Analysis.
Foot & ankle orthopaedicsFeasibility, Acceptability, and Utility of Remote Patient-Reported Outcomes Monitoring in Patients With Lung Cancer: A Moovcare© Study.
Clinical lung cancerEarly-onset diabetes with low utilization of lipid as an energy source carrying a rare missense mutation in the CEL gene.
Endocrinology, diabetes & metabolism case reportsExciting Discovery of a New Maturity-onset Diabetes of the Young Subtype from India (MODY 15).
The Journal of the Association of Physicians of IndiaReal-world generalizability of clinical trial cytomolecular risk in pediatric acute myeloid leukemia: a report from the REAL-AML cohort.
Journal of the National Cancer InstituteOral microbiome alterations after cancer treatment: a scoping review and analysis.
Medical oncology (Northwood, London, England)Mutational landscapes of HNF MODY gene products display a wide distribution with functional implications.
Endocrine connectionsSources of Racial Disparities in Critical Care Outcomes: A Single Center Analysis.
Journal of health care for the poor and underservedMaturity onset diabetes of the young and beyond: the changing face of single-gene diabetes.
European journal of endocrinologyMaturity-Onset Diabetes of the Young Associated With a Pathogenic ABCC8 Variant: Expanding the Phenotypic Spectrum.
AACE endocrinology and diabetesCall for Standardization of C-Peptide Measurement.
Journal of diabetes science and technologyClinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes.
European journal of pediatricsRare Variants in NEUROD1 and PDX1 Are Low-Penetrance Causes of MODY, Whereas Those in APPL1 and WFS1 Are Not Associated With MODY.
DiabetesUnmasking Diabetes in a Young Adult Male: A Case Report.
CureusPredictive value of IL-6, IL-1β, TNF-α, and vaginal pH in diagnosing vaginal microbial infections: A host-inflammatory axis perspective.
Journal of microbiological methodsHNF1A and A1CF coordinate a beta cell transcription-splicing axis that is disrupted in type 2 diabetes.
Cell metabolismRFX6 heterozygous frame-shift variation causes maturity-onset diabetes mellitus of the young (MODY) with refractory hyperlipidemia: a case report.
AME case reportsSocializing the Benefits of Entering Long-Term Care.
JAMA internal medicineChildren With Diabetes and At Least One Non-Autoimmune Feature Should Be Considered for Monogenic Diabetes Testing.
The Journal of clinical endocrinology and metabolismEarly-Onset Diabetes in Ghana's Upper East Region-Insights From Hospital Data.
Endocrinology, diabetes & metabolismSupporting Families in the Adult Intensive Care Unit With High Touch-Low Tech Interventions.
JAMA internal medicineGenetic and clinical characteristics of children with mody: insights into novel HNF4A variants and genotype-phenotype correlation.
Irish journal of medical scienceMitigating Trastuzumab-Doxorubicin Cardiotoxicity With Multiscale Quantitative Systems Toxicology and PBPK-Toxicodynamic Predictive Modeling Framework.
CPT: pharmacometrics & systems pharmacologyTearCare system versus cyclosporine ophthalmic emulsion for the treatment of moderate-to-severe meibomian gland disease associated dry eye disease in the United States: a cost-utility analysis.
Expert review of pharmacoeconomics & outcomes researchGlobal perspectives on monogenic forms of diabetes.
DiabetologiaAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Development of a Calculator for HNF1A- and HNF4A-MODY in Asian Indians.
- Discovery and preclinical activity of the menin-KMT2A inhibitor ziftomenib in acute leukemia models.
- Clinical Characterization of Atypical Diabetes: Insights from the GENEPEDIAB Study into the Spectrum Between Type 1 and Monogenic Diabetes.
- Efficacy and Tolerability of Topotecan/Cyclophosphamide/Dinutuximab in Relapsed and Refractory High-Risk Neuroblastoma: A Multi-Institutional Retrospective Study.
- A customized CNN model for signature authentication-Forensic implications.
- Insights from maturity-onset diabetes of the young into impaired insulin secretion in type 2 diabetes.
- Prediction of maturity-onset diabetes of the young subtypes using machine learning.
- Impact of Genetic Testing in Endocrinology Practice: A Single-Centre Experience Focused on Lipid and Monogenic Diabetes Disorders.
- The conundrum in diagnosing Maturity-Onset Diabetes of the Young (MODY) in a large German pedigree with early-onset diabetes and a novel HNF1A variant.
- A worldwide perspective on clinical characteristics and treatment of youth with monogenic diabetes in the SWEET registry.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:552(Orphanet)
- OMIM OMIM:606391(OMIM)
- MONDO:0018911(MONDO)
- GARD:3697(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q663041(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
