Diabetes mellitus causado por mutações em um único gene.
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Diabetes mellitus causado por mutações em um único gene.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 67 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 201 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
22 genes identificados com associação a esta condição.
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
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).
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.
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.
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.
Mitochondrial aminoacyl-tRNA synthetase that catalyzes the specific attachment of the asparagine amino acid (aa) to the homologous transfer RNA (tRNA), further participating in protein synthesis (PubMed:25385316). The reaction occurs in a two steps: asparagine is first activated by ATP to form Asn-AMP and then transferred to the acceptor end of tRNA(Asn) (Probable)
Mitochondrion matrixMitochondrion
Combined oxidative phosphorylation deficiency 24
An autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe disorder, reminiscent of Alpers syndrome. Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter.
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.
Transcription regulator required to maintain maternal and paternal gene imprinting, a process by which gene expression is restricted in a parent of origin-specific manner by epigenetic modification of genomic DNA and chromatin, including DNA methylation. Acts by controlling DNA methylation during the earliest multicellular stages of development at multiple imprinting control regions (ICRs) (PubMed:18622393, PubMed:30602440). Acts together with ZNF445, but ZNF445 seems to be the major factor in h
Nucleus
Diabetes mellitus, transient neonatal, 1
An autosomal dominant form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first month of life. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes.
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.
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.
Acts both as a repressor and an activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity)
Nucleus
Diabetes mellitus, neonatal, with congenital hypothyroidism
A syndrome of neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic kidneys.
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.
Transcription factor implicated in the cell fate determination in various organs. Binds to the E-box consensus sequence 5'-CANNTG-3'. Plays a role in early and late pancreas development and differentiation. Important for determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. May be involved in the maintenance of exocrine pancreas-specific gene expression including ELA1 and amylase. Required for the formation of pancr
NucleusCytoplasm
Pancreatic and cerebellar agenesis
A disease characterized by neonatal diabetes mellitus, cerebellar agenesis or hypoplasia, severe intrauterine growth retardation, the presence of very little subcutaneous fat, and dysmorphic facial features.
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.
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.
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.
Acts as a transcriptional activator (PubMed:9722527). Involved in the transcriptional regulation of type 1 receptor for pituitary adenylate cyclase-activating polypeptide
Nucleus
Diabetes mellitus, transient neonatal, 1
An autosomal dominant form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first month of life. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes.
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.
Signal transducer and transcription activator that mediates cellular responses to interleukins, KITLG/SCF, LEP and other growth factors (PubMed:10688651, PubMed:12359225, PubMed:12873986, PubMed:15194700, PubMed:15653507, PubMed:16285960, PubMed:17344214, PubMed:18242580, PubMed:18782771, PubMed:22306293, PubMed:23084476, PubMed:28262505, PubMed:32929201, PubMed:38404237). Once activated, recruits coactivators, such as NCOA1 or MED1, to the promoter region of the target gene (PubMed:15653507, Pu
CytoplasmNucleus
Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections
A rare disorder of immunity and connective tissue characterized by immunodeficiency, chronic eosinophilia, distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures.
Plays a role in the regulation of Wnt signaling pathway during early development
Nucleus envelope
Variantes genéticas (ClinVar)
1,682 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
65 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 — Diabetes mellitus genéticos raros
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
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.
Original research: Amplification of genetic and metabolic factors in alpha-1 antitrypsin deficiency.
Severe (Pi*ZZ) and heterozygous (Pi*MZ) alpha-1 antitrypsin deficiency (AATD) confer increased liver- and lung-related mortality, but the phenotype is highly variable. We aimed to evaluate the impact of obesity and diabetes mellitus on individuals with/without AATD. Cohort 1 prospectively recruited 1678 Pi*ZZ adults from an international initiative with a systematic liver assessment. 983 participants had a longitudinal follow-up. The data were compared to 16,768 Pi*MZ and 415,208 non-AATD individuals from the United Kingdom Biobank (cohort 2). Findings were ascertained by multivariable adjustment and propensity score matching. At baseline, diabetes was present in 52 (3%), overweight (BMI 25.0-29.9 kg/m2) in 540 (52%) and obesity (BMI≥30 kg/m2) in 266 (32%) Pi*ZZ adults. Pi*ZZ individuals with diabetes showed higher transaminases and surrogates of advanced liver fibrosis (APRI≥1.0, LSM≥15 kPa) were four to six times more common (adjusted Odds Ratio (aOR) 5.7/4.3, p<0.01). Elevated transaminases were rare among lean Pi*ZZ subjects, but more common in overweight (aOR 1.5/2.0) and obese Pi*ZZ participants (aOR 2.1/2.9). APRI≥1.0 was more than four times elevated in obese vs. lean Pi*ZZ individuals (aOR 4.1, p<0.001). During a median follow-up of 4.2 years, 54 Pi*ZZ participants experienced a hepatic and 64 a pulmonary endpoint. While Pi*ZZ participants with diabetes/obesity had an increased risk of hepatic endpoints (aHR 6.03/3.38, p<0.001) compared with non-diabetic/lean Pi*ZZ subjects, overweight was associated with a decreased risk of pulmonary endpoints (aHR 0.45, p=0.004). Our data demonstrate the interaction between genetic and metabolic risk factors in AATD and provide evidence for patient management.
Novel Homozygous Variants in CIDEC and WRN in a Young Female with Lipodystrophy and Thyroid Cancer.
Autosomal recessive familial partial lipodystrophy type 5 (FPLD5) due to a homozygous NP_001186481.1; p.E186* CIDEC variant has previously been reported in a 19-year-old female with diabetes mellitus, hypertriglyceridemia, and hepatic steatosis. Now, we report an 18-year-old Hispanic female who presented with FPL, along with hirsutism, acanthosis nigricans, and marked insulin resistance, and was found to have an extremely rare homozygous variant in CIDEC (NM_001199623.2:c.224G>T; NP_001186552.1; p.Ser75Ile) by whole exome sequencing. She also harbored a novel homozygous variant in WRN (NM_000553.4:c.1856T>G; NP_000544; p.Leu619Arg). Both serine 75 of the CIDEC protein and leucine 619 of the WRN protein were well conserved across species. She developed an invasive papillary thyroid carcinoma at the age of 17 years. Our report confirms the previously reported association of the biallelic CIDEC variant with the FPL phenotype and also highlights the extremely rare possibility of co-occurrence of FPLD5 with thyroid cancer, a clinical feature of Werner syndrome. Thus, our patient may not only need surveillance for the metabolic complications of FPLD5, such as diabetes, hypertriglyceridemia, and hepatic steatosis, but also for WRN-associated neoplasms and features of premature aging.
Skeletal Muscle HSF1 Alleviates Age-Associated Sarcopenia and Mitochondrial Function Decline via SIRT3-PGC1α Axis.
Age-related sarcopenia, characterized by progressive loss of skeletal muscle mass and strength, impacts metabolic health and quality of life in the elderly. Heat shock factor 1 (HSF1) is a transcription factor that orchestrates cellular responses to various stresses, while its role in sarcopenia remains unknown. Here, HSF1 mRNA expression was decreased in muscles of aged mice and humans, correlating negatively with the atrophic gene and positively with the mitochondrial gene. Aged HSF1 muscle-specific knockout mice exhibited severe muscle atrophy and reduced endurance capacity, partially due to smaller fast fibers and mitochondrial dysfunction in slow fibers, as well as impaired systemic metabolic performance. In contrast, HSF1 overexpression in skeletal muscle improved these functions. Mechanistically, via RNA sequencing (RNA-seq) and chromatin immunoprecipitation sequencing (ChIP-seq), it is revealed that HSF1 transcriptionally activated Sirtuin3 (SIRT3) for the deacetylation of both PGC1α1 and PGC1α4 isoforms of peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC1α), in skeletal muscle, enhancing mitochondrial function and muscle hypertrophy in vivo and in vitro, and inducing fibronectin type III domain-containing protein 5 (FNDC5)/Irisin for tissue crosstalk. Thus, HSF1 regulates skeletal muscle functions and systemic energy homeostasis via the SIRT3-PGC1α axis, representing a potential therapeutic target for sarcopenia and metabolic disorders.
Transgenic overexpression of miR-486 and sAnk1.5 does not alter glucose handling in mice.
Recent studies have shown that the C allele of SNP rs508419 is associated with susceptibility to Type 2 diabetes (T2D). This SNP lies within the muscle-specific P2 promoter of human ANK1, which drives transcription of the sAnk1.5 isoform and miR-486. The C allele increases P2 promoter activity, resulting to higher levels of sAnk1.5 transcript and protein in striated muscles. We now present the first evidence that in skeletal muscle of individuals homozygous for the rs508419 C allele, also the hsa-miR-486-5p is transcribed at higher levels. This raises the question of whether T2D susceptibility may be associated with simultaneous overexpression of miR-486-5p and sAnk1.5. To test this hypothesis, we generated and characterized double transgenic (D-Tg) mice that selectively overexpress both mmu-miR-486-5p and sAnk1.5 in skeletal muscle tissue. Analysis of sAnk1.5 and miR-486-5p expression in D-Tg mouse showed that despite both transgenes were significantly upregulated, a discrepancy between sAnk1.5 mRNA and protein levels was observed, suggesting that sAnk1.5 protein levels are further regulated by post-translational mechanism. D-Tg mice were monitored from 2 to 12 months of age to assess body weight, fat and lean mass, blood glucose levels under fasting conditions, as well as during intraperitoneal glucose tolerance tests and insulin tolerance tests, performed under either standard or high fat diet conditions. No differences were observed between D-Tg and age-matched wild type control mice for any of the parameters tested, indicating that the link between rs508419 and susceptibility to T2D cannot be ascribed to increased expression of miR-486-5p and sAnk1.5 in skeletal muscle.
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Journal of pediatric endocrinology & metabolism : JPEMExercise and functional integrity in non-disease and disease states during human ageing: the relevance of VO2max.
Free radical biology & medicinePancreatic volume and immune biomarkers predict checkpoint inhibitor-associated autoimmune diabetes in humans.
The Journal of clinical investigationTransgenic overexpression of miR-486 and sAnk1.5 does not alter glucose handling in mice.
Biochimica et biophysica acta. Molecular cell researchStage 1 type 1 diabetes memory B lymphocytes transcriptionally differ from healthy controls and harbor insulin-binding specificities.
ImmunoHorizonsPolygenic risk score and cluster-based analysis suggests links between type 2 diabetes and vascular dementia in the KARE study.
Nature communicationsExpanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review.
Frontiers in neurologyA rare case of H syndrome with severe multisystem involvement: Clinical challenges in low-resource healthcare settings.
The Journal of international medical researchCoincidence of Autoimmune Diabetes Mellitus and Familial Partial Lipodystrophy.
JCEM case reportsRogers Syndrome and Callosal Disconnection in the Setting of Moyamoya Disease.
CureusIncidence and synergistic Association of Type 2 diabetes and apolipoprotein E epsilon 4 with dementia risk in the Kunshan aging research with E-health cohort study.
Preventive medicinePDX-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 endocrinology18p Deletion Syndrome Associated with Type 1 Diabetes and Hashimoto's Thyroiditis: A Case Report on Autoimmune Disorders and Genetic Factors.
Journal of clinical research in pediatric endocrinologyMelanoma of the Choroid and Ciliary Body in Children: Remission of Metastatic Melanoma of the Choroid After Treatment With Chemotherapy and Immune Checkpoint Inhibition.
Pediatric blood & cancerDecoding VEXAS syndrome: emerging insights into pathogenesis and clinical management.
Current opinion in rheumatologyCase Report: When genetic diagnosis comes late: lessons from a DEND syndrome patient successfully transitioned to sulfonylurea.
Frontiers in clinical diabetes and healthcareDiscovery of obesity genes through cross-ancestry analysis.
Nature communicationsCoexistence of T1DM and GCK-MODY: Case Report and Literature Review.
Journal of clinical research in pediatric endocrinologySynergistic target network construction and dynamic simulation analysis based on a prospective systems pharmacology strategy.
MedicineTime-resolved Mendelian randomization detects substantial variation in the detrimental effect of obesity throughout life.
Science advancesITCH Deficiency Causing Immunodeficiency and Immune Dysregulation.
PediatricsExome and Genome Sequencing Reveals Novel Variants for Severe Diabetic Retinopathy in Type 1 Diabetes.
Investigative ophthalmology & visual scienceA case report of co-isolation of Lactobacillus delbrueckii and Candida albicans from blood cultures of an elderly woman with diabetes mellitus.
The new microbiologicaAssociation of matrix metalloproteinase-10 levels and genetic variant rs17860955 with severe vascular complications in patients with type 1 diabetes: prospective cohort.
Journal of diabetes and its complicationsBeyond the Classical Triad: Atypical Presentations and Regulatory T Cell Phenotyping in a Cohort of IPEX Patients.
Journal of clinical immunologyEffect of Tirzepatide in an Adolescent With Early-Onset Obesity, Hyperphagia, and Type 2 Diabetes.
CureusDiabetes mellitus HNF4A-MODY in children from the Russian population: clinical and genetic features.
Frontiers in endocrinologyDiabetes Insipidus as an Early Clinical Indicator of Wolfram Syndrome Type 1: Evidence From a Symptom-Based Screening Approach.
Pediatric diabetesDiabetic Ketoacidosis as the Presentation of Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked Syndrome: A Case Report.
Case reports in pediatricsPopulation-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health.
Nature geneticsGenomic Sequencing in Oncocytic Adrenal Carcinoma May Provide Insights into Disease Progression and Treatment Options.
JCEM case reportsCase Report: a family report of hereditary pancreatitis caused by SPINK1 and PRSS1 gene mutations.
Frontiers in geneticsCyclophosphamide post-haploidentical stem cell transplantation experience in an infant with IPEX syndrome.
Biomedica : revista del Instituto Nacional de Salud[194 + 2T>C;-215G>A] mutation of SPINK1 gene is associated with fibrocalculous pancreatic diabetes: A rare case report.
MedicineA Japanese infant with fulminant type 1 diabetes with disease-sensitive CSAD polymorphism and HLA haplotype.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyOutcomes misaligned in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): implications for trial design.
Brain communicationsThe Targets of Immune Adverse Events in Cancer Immunotherapy by Combined Check-point Inhibitors Resemble those Seen in IPEX Patients.
Journal of clinical immunologyComplete loss of SLC30A8 in humans improves glucose metabolism and beta cell function.
DiabetologiaA Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.
JCEM case reportsInvestigating the role of the ALPK1 signaling pathway in the pathogenesis of diabetic retinopathy.
Scientific reportsGenotype-Phenotype Discrepancies in Family Members With a Novel Glucokinase Mutation: Insights Into GCK-MODY and Its Interplay With Insulin Resistance.
DiabetesPsychosis as a rare neuropsychiatric manifestation of Bardet-Biedl syndrome: A case report.
The Journal of international medical researchDiabetes mellitus and pregnancy in Wolfram syndrome type 1: a case report with review of clinical and pathophysiological aspects.
Frontiers in medicineThe miR-200 family in the context of obesity and type 2 diabetes.
Diabetes research and clinical practiceHereditary Hemochromatosis Type 2A Presenting With Hypogonadism, Diabetes, and Osteoporosis in a Young Woman.
JCEM case reportsAssociation between SGLT2 inhibitors and genital cancer: a meta-analysis and mendelian randomization study.
Journal of endocrinological investigationApplying weighted Cox regression to genome-wide association studies of time-to-event phenotypes.
Nature computational scienceThe X-Age Project to construct a Chinese aging clock.
Nature agingNeonatal Diabetes: 20-Year Experience from a Tertiary Care Pediatric Diabetes Clinic in North India.
Hormone research in paediatricsLong-term impact of growth hormone therapy on mortality and type 2 diabetes in Prader-Willi syndrome: a nationwide cohort study.
Frontiers in endocrinologySenescence-regulating agents remodel mesenchymal stem cell-schwann cell circuitry for diabetic bone regeneration.
BiomaterialsTailored Therapies for Hereditary Diabetes: Unraveling the Genetic Underpinnings of MODY and Neonatal Diabetes.
Current gene therapyClinical characteristics and risk factors of metabolic dysfunction-associated steatotic liver disease in lean patients: results of the Polish Gallstone Surgery Registry.
Clinical and experimental hepatologyPediatric patient with maturity-onset diabetes of the young type 5 and 17q12 deletion syndrome: A case report.
Medicine internationalNeonatal diabetes mellitus is a significant feature of COXPD-24 caused by recessive NARS2 variants.
Diabetic medicine : a journal of the British Diabetic AssociationImpact of Parental or First-Degree Family History of Diabetes on Diabetes Incidence and Progression During Long-term Follow-up in the Diabetes Prevention Program Outcomes Study.
Diabetes careDe Novo KCNJ11 Mutation in an Infant With Neonatal Diabetes Mellitus Presenting as Diabetic Ketoacidosis: A Case Report and Literature Review.
Journal of investigative medicine high impact case reportsEffect of PCSK9 Inhibition With Alirocumab in Patients With Probable Familial Hypercholesterolemia or Type III Hyperlipoproteinemia: Results From the ODYSSEY OUTCOMES Trial.
Journal of the American Heart AssociationWFS1 gene mutation associated with pediatric diabetes mellitus and congenital deafness: A case report.
World journal of diabetesSubcutaneous phaeohyphomycosis due to a rare fungus Parathyridaria percutanea: First reported case from central India.
Indian journal of medical microbiologyABCC8 Mutation Causing Permanent Neonatal Diabetes Mellitus in Early Infancy: A Case Report.
AJP reportsSLC30A8 Rare Variant Modify Contribution of Common Genetic and Lifestyle Factors toward Type 2 Diabetes Mellitus.
Diabetes & metabolism journal[A rare case of autoimmune polyglandular syndrome type 2 in an elderly patient].
MedicinaInhibition of Ferroptosis by Adipose Stem Cell-Derived Apoptotic Vesicles Enhances Angiogenesis and Accelerates Diabetic Wound Healing.
International journal of nanomedicineRare Variants in NEUROD1 and PDX1 Are Low-Penetrance Causes of MODY, Whereas Those in APPL1 and WFS1 Are Not Associated With MODY.
DiabetesGenotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye.
Molecular syndromologyMauriac syndrome: a rare complication in patients with type 1 diabetes mellitus.
Endocrinology, diabetes & metabolism case reportsEvaluating the Prophylactic and Nephroprotective Effects of Vitamin D and Metformin in Diabetic Nephropathy.
Oxidative medicine and cellular longevityLipoprotein Lipase (LPL) Gene Mutation in a Girl With Diabetic Ketoacidosis, Acute Pancreatitis, and Hypertriglyceridemia.
CureusPheochromocytoma Associated With Neurofibromatosis Type 1: A Case Report.
CureusFirst live birth after in vitro fertilization in a woman with Alström syndrome: a case report.
Frontiers in reproductive healthAltered branched chain ketoacids underlie shared metabolic phenotypes in type 1 diabetes and maple syrup urine disease.
Communications medicineA rare likely pathogenic HLA-DRB1 variant with compromised immunity in severe COVID-19 patient and in-hospital mortality.
Personalized medicineThree Siblings With an Attenuated Presentation of Perlman Syndrome: A Case Report and Literature Review.
Molecular genetics & genomic medicinePrenatal pembrolizumab exposure as the potential link among recurrent necrotizing enterocolitis, neonatal diabetes mellitus and exocrine pancreatic insufficiency: a case report.
Italian journal of pediatricsGonadal Dysfunction in Wolfram Syndrome: A Prospective Study.
Diagnostics (Basel, Switzerland)A Case Report on Schistosoma and Gastric Cancer: Association or Causation?
CureusA rare presentation of Wilson disease with normal levels of serum ceruloplasmin and copper and MODY: A case report.
MedicineBaseline 25-hydroxyvitamin D as a stronger protector against type 2 diabetes in the context of hyperuricemia and gout: a cohort study based on the UK biobank.
The Journal of nutritional biochemistryLiraglutide use in pediatric type 2 familial partial lipodystrophy caused by LMNA mutation: a case report.
BMC pediatricsNon-syndromic WFS1 mutations are not a rare cause of diabetes in Pakistan.
Diabetes research and clinical practiceEpidemiology and clinical outcomes of clinically suspected multiple endocrine neoplasia type 1 in South Korea: a nationwide cohort study.
Frontiers in endocrinologyThe role of SLC19A2 variants in the wide spectrum of non-autoimmune abnormalities of glucose homeostasis.
DiabetologiaBi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.
Genetics in medicine : official journal of the American College of Medical GeneticsManagement of pregnancy with metformin: Case reports for genetic insulin resistance syndrome and a literature review for gestational and type 2 diabetes.
Journal of diabetes investigationRegulation of Renal and Extrarenal Calcitriol Synthesis and Its Clinical Implications.
International journal of molecular sciencesPulmonary fungal infection caused by Rhizopus microsporus in type II diabetic patient:A case report.
Diagnostic microbiology and infectious diseaseA novel homozygous missense DNAJC3 variant in syndromic juvenile-onset diabetes.
Journal of pediatric endocrinology & metabolism : JPEMExploring the causal association between pre-pregnancy obesity and pregnancy-related complications, and mediating pathways of obesity on adverse pregnancy outcomes: Insights from Mendelian randomization analysis.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsDual Diagnostic Dilemma: Gitelman Syndrome and Incidental Neuroendocrine Tumor in a Young Adult With Refractory Hypokalemia.
CureusFURIN R81C variant: a link to type 2 diabetes via impaired enzymatic activity.
American journal of physiology. Endocrinology and metabolismAutosomal Dominant Calpainopathy in a Diabetic Patient Complicated by Functional Gitelman Syndrome.
Case reports in medicineKearns-Sayre syndrome presenting with fanconi syndrome: a case report.
Translational pediatricsGenealogical Rabson-Mendenhall syndrome caused by INSR gene mutation.
American journal of physiology. Endocrinology and metabolismA case of a young patient with progressive vision loss: An atypical presentation of the rare Wolfram Syndrome in a Middle Eastern individual.
American journal of ophthalmology case reportsMonogenic diabetes: An evidence-based clinical approach.
World journal of diabetesA Hidden Diagnosis: Neurogenic Bladder Leading to Acute Kidney Failure in Wolfram Syndrome.
CureusCase Report: Beyond type 1 diabetes: a case of delayed MODY1 diagnosis and successful transition to sulfonylurea therapy.
Frontiers in medicineNeonatal diabetes-associated missense PDX1 variant disrupts chromatin association and protein-protein interaction.
JCI insightMazdutide, a dual agonist targeting GLP-1R and GCGR, mitigates diabetes-associated cognitive dysfunction: mechanistic insights from multi-omics analysis.
EBioMedicineSafety and Effectiveness of Oral Glyburide Suspension in Neonatal Diabetes Mellitus: French Retrospective Cohort Study.
Journal of the Endocrine SocietyAssociation of cross-life-cycle body size and genetic risk with cardio-renal-metabolic conditions in adulthood: evidence from a prospective cohort study.
International journal of surgery (London, England)MDA5 variants trade antiviral activity for protection from autoimmune disease.
BMC medical genomicsBrazilian expert consensus on the diagnosis, classification, screening for complications and treatment of familial partial lipodystrophy.
Diabetology & metabolic syndromeAn Invasive Macrolide/Lincosamide-Resistant Corynebacterium mucifaciens Isolate from a Patient with Diabetic Gangrene: Colonies with Mucoid Appearance Harboring a Fragment of erm(X).
Japanese journal of infectious diseasesPhenome-wide association study and functional annotation of hemoglobin A1c-associated variants in African populations.
PloS oneA Rare PTF1A Enhancer Mutation Causing Neonatal Diabetes Mellitus with Pancreatic Agenesis: Case Report and Considerations for Genetic Evaluation.
International journal of endocrinology and metabolismA rare combination of hypogonadotropic hypogonadism, GH deficiency and rectal atresia in a female with an FGFR1 variant: a case report and systematic review of the literature.
EndocrineWolcott-Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure - a case report.
Journal of pediatric endocrinology & metabolism : JPEMPancreatic Comorbidities in Pediatric Celiac Disease: Exocrine Pancreatic Insufficiency, Pancreatitis, and Diabetes Mellitus.
Diagnostics (Basel, Switzerland)A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes.
Journal of diabetes investigationUnmasking the Rare but Lethal Cardiac Complications of Immune Checkpoint Inhibitor Therapy: A Review of Mechanisms, Risk Factors, and Management Strategies.
Current treatment options in oncology[Transition in cases of complex endocrine and diabetic diseases].
Innere Medizin (Heidelberg, Germany)Clonal hematopoiesis meets an autoinflammatory disease: the new paradigm of VEXAS syndrome.
Expert review of hematologyEndocrine manifestations and long-term outcomes of patients with mitochondrial diseases.
Orphanet journal of rare diseasesAccounting for the impact of rare variants on causal inference with RARE: a novel multivariable Mendelian randomization method.
Briefings in bioinformaticsNovel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy.
The Journal of clinical endocrinology and metabolismsc-MULTI-omics approach in nano-rare diseases: understanding the pathophysiological mechanism of Mulvihill-Smith Syndrome.
Functional & integrative genomicsIn Silico Analysis Identified Putative Pathogenic Missense Single Nucleotide Polymorphisms (SNPs) in the Human HNF1A Gene.
International journal of molecular sciencesDiabetic Ketoacidosis With Schmidt Syndrome: An Autoimmune Polyendocrine Syndrome Type 2.
CureusCase Report: Challenges of insulin and sulfonylurea dosing in an extremely premature infant for the management of KCNJ11-associated neonatal diabetes mellitus.
Frontiers in pediatricsA KDM6 A variant in a Chinese female patient with diabetes mellitus and oligomenorrhea: a case report.
Journal of medical case reportsFocusing on Rare Variants Related to Maturity-Onset Diabetes of the Young in Children.
Pediatric diabetesClinical Characteristics and Remission Monitoring of 6q24-Related Transient Neonatal Diabetes.
Pediatric diabetesCrossed Cerebellar Diaschisis in a Patient with MELAS Syndrome: A Case Report.
Cerebellum (London, England)Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)-A European cohort perspective.
AndrologyNeonatal hypoglycaemia in the offsprings of parents with maturity-onset diabetes of the young (MODY).
Journal of pediatric endocrinology & metabolism : JPEMAutoimmune hyperglycemia: beyond type 1 diabetes.
Acta diabetologicaClinical settings in which human leukocyte antigen typing is still useful in the diagnosis of celiac disease.
World journal of gastroenterologyConcomitant Pathologies and Their Impact on Parkinson Disease: A Narrative Overview of Current Evidence.
International journal of molecular sciencesThe Last Mile in Beta-Cell Replacement Therapy for Type 1 Diabetes: Time to Grow Up.
Transplant international : official journal of the European Society for Organ TransplantationLiraglutide Treatment Reverses Unconventional Cellular Defects in Induced Pluripotent Stem Cell-Derived β-Cells Harboring a Partially Functional WFS1 Variant.
DiabetesA Beacon of Hope: Confronting Bardet-Biedl Syndrome in Pakistan's Health Care Frontier.
AACE clinical case reportsSGLT2 inhibition for patients with ADPKD - closing the evidence gap.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationPathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.
Journal of diabetes investigationAssociações
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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.
- Clinical Characterization of Atypical Diabetes: Insights from the GENEPEDIAB Study into the Spectrum Between Type 1 and Monogenic Diabetes.
- Original research: Amplification of genetic and metabolic factors in alpha-1 antitrypsin deficiency.
- Novel Homozygous Variants in CIDEC and WRN in a Young Female with Lipodystrophy and Thyroid Cancer.
- Skeletal Muscle HSF1 Alleviates Age-Associated Sarcopenia and Mitochondrial Function Decline via SIRT3-PGC1α Axis.
- Transgenic overexpression of miR-486 and sAnk1.5 does not alter glucose handling in mice.
- Age- and diet-dependent progression of retinal microvascular injury in GCK-MODY under metabolic stress.
- A type 2 diabetes patient with three years of persistent abdominal pain: the culprit was variegate porphyria-a case report.
- Pediatric Hepatocyte Nuclear Factor 1B (HNF1B) Disease: Diabetes and Endocrine Manifestations.
- A Novel Autoimmune Presentation of Wiskott-Aldrich Syndrome: Type 1 Diabetes.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:183625(Orphanet)
- MONDO:0015967(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55785854(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
