Obesidade genética é uma condição rara caracterizada por ganho de peso excessivo, frequentemente desde a infância, associada a alterações metabólicas (colesterol LDL alto, acantose nigricans) e de desenvolvimento (tálamo, crescimento, esqueleto). Pode ter herança autossômica dominante ou recessiva, ligada a mutações em genes como LEPR, SDC3, ENPP1, CARTPT e AGRP.
Introdução
O que você precisa saber de cara
Visão geral
Sinais e sintomas
As manifestações clínicas relatadas incluem obesidade troncular de início na infância, aumento do tecido adiposo, acantose nigricans, aumento da concentração de colesterol LDL e diabetes mellitus resistente à insulina.[1][2]
No âmbito endócrino e do desenvolvimento, podem ser observados déficit de crescimento, atraso de crescimento, maturação esquelética atrasada ou maturação esquelética acelerada, além de hipotireoidismo hipofisário e insuficiência adrenal central.[1][2]
Comprometimentos reprodutivos e hormonais também fazem parte do quadro, como hipogonadismo, hipogonadismo hipergonadotrófico, ausência de características sexuais secundárias, hipoplasia do ovário, tamanho testicular diminuído, concentração sérica de testosterona diminuída e estradiol sérico diminuído.[1][2]
Outras manifestações descritas envolvem anomalia do desenvolvimento do tálamo, hipotensão ortostática devido a disfunção autonômica, hipopigmentação da pele, ativação diminuída de células T e proporção diminuída de células T CD4-positivas.[1][2]
Causas genéticas
Diagnóstico
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
A obesidade genética é um termo que reúne condições em que o ganho excessivo de peso decorre de alterações em genes que regulam o apetite e o metabolismo. Ela costuma se manifestar precocemente na infância com acúmulo de gordura corporal, alterações no colesterol e complicações hormonais como resistência à insulina. A confirmação é feita por testes moleculares que identificam variantes em genes específicos, como LEPR, POMC e MC4R. Atualmente, esta condição não consta na lista oficial de PCDT de doenças raras do Ministério da Saúde nem possui medicamentos específicos dispensados na farmácia do SUS. O cuidado na rede pública é direcionado ao controle clínico de cada sintoma e à prevenção de complicações metabólicas.
Obesidade genética é uma condição rara caracterizada por ganho de peso excessivo, frequentemente desde a infância, associada a alterações metabólicas (colesterol LDL alto, acantose nigricans) e de desenvolvimento (tálamo, crescimento, esqueleto). Pode ter herança autossômica dominante ou recessiva, ligada a mutações em genes como LEPR, SDC3, ENPP1, CARTPT e AGRP.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 38 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 90 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
16 genes identificados com associação a esta condição.
Curadoria gene-doença
fontes oficiaisLeptin receptor deficiency
A rare disease characterized by normal levels of serum leptin, hyperphagia and severe obesity from an early age. Additional features include alterations in immune function, and delayed puberty due to hypogonadotropic hypogonadism.
Ossification of the posterior longitudinal ligament of the spine
A calcification of the posterior longitudinal ligament of the spinal column, usually at the level of the cervical spine. Patients with OPLL frequently present with a severe myelopathy that can lead to tetraparesis.
Obesity
A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.
Obesity
A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.
Obesity
A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.
Obesity
A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.
Morbid obesity and spermatogenic failure
An autosomal recessive morbid obesity syndrome characterized by hypertension, fatty liver disease, insulin resistance, and decreased sperm counts. Variable clinical manifestations are early coronary artery disease with myocardial infarction before 45 years of age, type II diabetes mellitus, and intellectual disability. Morbid obese individuals are defined as having a BMI greater than 40.
Proprotein convertase 1 deficiency
Characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to impaired processing of prohormones.
Obesity
A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.
Leptin deficiency
A rare disease characterized by low levels of serum leptin, severe hyperphagia and intractable obesity from an early age.
Variantes genéticas (ClinVar)
223 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
49 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 — Obesidade, genética
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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
Ensaios em destaque
Com ensaio aberto em 1 país. O ponto verde marca onde há vaga agora.
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
4 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Sleep-Disordered Breathing in Chung-Jansen Syndrome.
We report a thirty-six-year-old woman with intellectual disability who was referred for evaluation of suspected obstructive sleep apnea. The initial clinical impression suggested a syndromic case, so comprehensive genetic testing was undertaken. Overnight polysomnography revealed a severe rapid eye movement-predominant obstructive sleep apnea syndrome with an apnea-hypopnea index of 31.9 events per hour, rapid eye movement apnea-hypopnea index of 113.8 events per hour, and lowest oxygen saturation of 66%. Treatment with continuous positive airway pressure improved respiratory and sleep quality indices and was well tolerated. Whole-exome sequencing identified a de novo splice site variant in the pleckstrin homology domain interacting protein gene (c.41-1G > A), confirming a molecular diagnosis of Chung-Jansen Syndrome. Chung-Jansen syndrome is a rare neurodevelopmental disorder caused by heterozygous pathogenic variants in the pleckstrin homology domain interacting protein gene, marked by developmental delay, intellectual disability, behavioral abnormalities, dysmorphism, and progressive obesity. PHIP influences central and peripheral pathways controlling satiety, pancreatic function, and body weight. Despite frequent reports of sleep problems, systematic evaluation of sleep-disordered breathing has been limited. This adult case provides the first polysomnographic confirmation in the syndrome, supporting proactive screening for obstructive sleep apnea-especially in those with obesity. Integrating genetic assessment into sleep care can reduce diagnostic delays and better guide therapy and prognosis.
Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.
Pathogenic variants in five established leptin-melanocortin pathway genes (LEP, LEPR, MC4R, PCSK1, POMC) are associated with severe early-onset obesity and are targets for emerging treatments. However, these variants are rare in these patients, suggesting the involvement of additional genes interacting with this pathway. Next-generation sequencing (NGS) analysis was performed in 395 patients with severe obesity, including 213 children (mean BMI: 56.3 kg/m2; BMI-z-score: 4.6). The analysis targeted 20 genes, including the 5 established genes. Rare genetic variants were assessed for pathogenicity using prediction algorithms, genetic databases, and literature review. Phenotypic data were retrospectively collected, focusing on obesity severity, age of onset, familial history, eating behavior disorder, neurodevelopmental and endocrine-associated diseases, and obesity complications. Pathogenic heterozygous variants were identified in 34 patients (8.6%), 18 of them harboring pathogenic variants in the 15 additional genes. In adults, early-onset obesity was more frequent in potentially pathogenic variants carriers than in non-carriers (83.3% vs. 55.0%, p = 0.04). No differences were observed in the other phenotypic characteristics. This supports the relevance of expanded genetic testing in severe obesity. Early-onset obesity remains a key clinical feature to guide genetic investigation and identify patients who may benefit from early personalized care and targeted treatments.
Sex Differences in Leptin Levels in Children and Adolescents with Normal Weight and Overweight/Obesity Across Pubertal Stages: A Systematic Review and Meta-analysis.
Leptin levels differ significantly between adult men and women, it is unknown whether these sex differences arise during puberty in children with normal weight (NW) or overweight (OW)/obesity (OB). To analyze sex differences in leptin levels and body mass index SD score across pubertal stages in children with NW and OW/OB. Eligible studies were obtained from Medline, Embase, Web of Science, Cochrane, and CINAHL from inception until February 2025. Twenty-four of 1713 studies assessing leptin levels in children aged 5 to 19 years were included. Two reviewers independently extracted data and assessed study quality. We performed subgroup meta-analysis stratified for pubertal stage using random effects model to estimate the weighted mean difference in R. Girls with NW had higher leptin levels than boys at all pubertal stages (pooled mean difference [MD]: 3.99; 95% CI, 2.63-5.35). In children with OW/OB, no significant differences were found in the prepubertal and pubertal stages. At the postpubertal stage, leptin levels were higher in girls compared to boys (MD: 14.60; 95% CI, 0.95-28.25), based on 1 included study. In pubertal children with OW/OB, body mass index SD score was higher in boys than girls (MD: -0.67; 95% CI, -0.74 to -0.61). The sex-specific differences in leptin levels, characteristic of normal-weight (pre-)pubertal children is lost in obesity. Therefore, leptin levels alone are unlikely to explain why obesity accelerates puberty in girls more than in boys. A combined effect with other factors, such as sex dimorphism in kisspeptin, may play a role.
Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism.
Nizon-Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7-year-old female who presented with developmental delay, right-leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin pigmentation, sectoral iris hypopigmentation, dysphagia, periventricular nodular heterotopia, seizures, morbid obesity, and a pelvic kidney. Genome sequencing (GS) revealed a MED12L variant, NM_053002.5:c.3559+2T>G. Both computational models and transcriptomic analysis confirmed that this variant induced splice loss of MED12L exon 25. Probands 2 and 3 presented with overlapping phenotypes of developmental delay; sequencing confirmed c.3441_3444dup; p.(G1149Nfs*13) and seq[GRCh37] del(3)(q25.1q25.1) chr3:g.?_151075120 variants affecting MED12L. Further investigation found diploid-triploid mosaicism in Proband 1, supporting the hypothesis that loss of MED12L function may increase risk for other cytogenetic abnormalities. Probands 2 and 3 did not harbor evidence of additional cytogenetic aberrations. In Proband 1, caloric restriction and semaglutide-pramlintide combination therapy were started at age eight and were effective in weight reduction. Overall, this report expands the phenotypic spectrum of Nizon-Isidor syndrome, highlights a potential link between MED12L and cytogenetic abnormalities, and demonstrates a case of weight loss through GLP-1 therapy in a child with a genetic obesity syndrome.
Innovative Care for Children and Adolescents with Severe and/or Genetic Obesity.
Children and adolescents with severe and/or genetic obesity require continuous care and long-term treatment due to the chronic, relapsing, and progressive nature of their disease. Understanding the molecular mechanisms underlying the regulation of hunger, satiety, body weight, and the development of obesity enables a personalized treatment approach. Individualized, multimodal treatment strategies are essential for effective, long-term management of severe and/or genetic obesity in affected children and adolescents. New pharmacological treatments, such as mechanism-based medications for genetic obesity and incretin-based drugs for severe obesity, represent significant advances in chronic weight management and are valuable adjuncts to individualized lifestyle interventions. This article outlines an innovative, structured care and treatment concept for children and adolescents with severe and/or genetic obesity tailored to their specific needs and requirements. It emphasizes the importance of providing care within specialized treatment centers under the "Chronic Care Model," in close collaboration with local healthcare providers. In order to ensure long-term treatment of children and adolescents with severe and/or genetic obesity, innovative and structured care concepts consisting of individualized, multimodal treatment strategies in specialized treatment centers in collaboration with local healthcare providers are required.
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The Role of GLP1 Receptor Agonists and Multi-agonist Incretin Therapies for Specific Obesity-related Health Conditions: Evidence and Rationale for Prioritisation.
Sleep-Disordered Breathing in Chung-Jansen Syndrome.
Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.
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Sleep-Disordered Breathing in Chung-Jansen Syndrome.
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Nutrients[A clinical challenge of evaluation and management in children with genetic obesity].
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Frontiers in endocrinologyObesity and Hyperphagia With Increased Defective ACTH: A Novel POMC Variant.
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Obesity surgeryMutations in melanocortin-4 receptor: From fish to men.
Progress in molecular biology and translational scienceTesting for rare genetic causes of obesity: findings and experiences from a pediatric weight management program.
International journal of obesity (2005)Association of Neighborhood Resources and Race and Ethnicity With Readmissions for Diabetic Ketoacidosis at US Children's Hospitals.
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International journal of epidemiologyDextroamphetamine Treatment in Children With Hypothalamic Obesity.
Frontiers in endocrinologyThe Hyperphagia Questionnaire: Insights From a Multicentric Validation Study in Individuals With Prader Willi Syndrome.
Frontiers in pediatricsInfluence of High Energy Diet and Polygenic Predisposition for Obesity on Postpartum Health in Rat Dams.
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Hormone research in paediatricsIntestinal, liver and lipid disorders in genetically obese rats are more efficiently reduced by dietary milk thistle seeds than their oil.
Scientific reportsEffects of COVID-19 Lockdown on Weight, Body Composition, and Behavior of Children, Adolescents, and Young Adults with Prader-Willi Syndrome.
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International journal of environmental research and public healthDiet-induced- and genetic-obesity differentially alters male germline histones.
Reproduction (Cambridge, England)Genetic testing in pediatric endocrine pathology.
Medicine and pharmacy reportsEvaluation and Management of Early Onset Genetic Obesity in Childhood.
Journal of pediatric geneticsNutritional phases of Prader-Willi syndrome.
Andes pediatrica : revista Chilena de pediatriaGenetic Obesity Variants and Risk of Conventional Adenomas and Serrated Polyps.
Digestive diseases and sciencesDietary flaxseed reduces Myocardial Ischemic Lesions, improves cardiac function and lowers cholesterol levels despite the presence of severe obesity in JCR:LA-cp Rats.
The Journal of nutritional biochemistryEffects of glucagon-like peptide-1 analogue treatment in genetic obesity: A case series.
Clinical obesityCase Report: Liraglutide for Weight Management in Beckwith-Wiedemann Syndromic Obesity.
Frontiers in endocrinologyMonogenic human obesity syndromes.
Handbook of clinical neurologyHypothalamic neuropeptides and neurocircuitries in Prader Willi syndrome.
Journal of neuroendocrinologyLong-term outcomes of bariatric surgery in patients with bi-allelic mutations in the POMC, LEPR, and MC4R genes.
Surgery for obesity and related diseases : official journal of the American Society for Bariatric SurgeryThe Influence of Diet and Sex on the Gut Microbiota of Lean and Obese JCR:LA-cp Rats.
MicroorganismsEffects of the COVID-19 pandemic and lockdown on the mental and physical health of adults with Prader-Willi syndrome.
Orphanet journal of rare diseasesExercise and Adipose Tissue Immunity: Outrunning Inflammation.
Obesity (Silver Spring, Md.)Complexity and Stigma of Pediatric Obesity.
Childhood obesity (Print)Benefits of multidisciplinary care in Prader-Willi syndrome.
Expert review of endocrinology & metabolismIndependent and combined associations between fast-food outlet exposure and genetic risk for obesity: a population-based, cross-sectional study in the UK.
BMC medicineLipocalin 13 enhances insulin secretion but is dispensable for systemic metabolic control.
Life science allianceClinical management of patients with genetic obesity during COVID-19 pandemic: position paper of the ESE Growth & Genetic Obesity COVID-19 Study Group and Rare Endo-ERN main thematic group on Growth and Obesity.
EndocrineExperimental models of metabolic and alcoholic fatty liver disease.
World journal of gastroenterologyCausal Inference for Genetic Obesity, Cardiometabolic Profile and COVID-19 Susceptibility: A Mendelian Randomization Study.
Frontiers in geneticsImpact of Genetic Variations and Epigenetic Mechanisms on the Risk of Obesity.
International journal of molecular sciencesMECHANISMS IN ENDOCRINOLOGY: Update on treatments for patients with genetic obesity.
European journal of endocrinologyStimulated GH levels during the transition phase in Prader-Willi syndrome.
Journal of endocrinological investigationAngiopoietin-like 8 (ANGPTL8) as a potential predictor of NAFLD in paediatric patients with Prader-Willi Syndrome.
Journal of endocrinological investigationUnilateral section of the superior ovarian nerve induces first ovulation in the Zucker fatty (fa/fa) rat.
General and comparative endocrinologyFat-Free Mass Is Better Related to Serum Uric Acid Than Metabolic Homeostasis in Prader-Willi Syndrome.
NutrientsBariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders.
Current diabetes reportsBardet-Biedl syndrome and related disorders in Japan.
Journal of human geneticsLeptin-Mediated Changes in the Human Metabolome.
The Journal of clinical endocrinology and metabolismIdentifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.
PloS oneDietary Hemp Seeds More Effectively Attenuate Disorders in Genetically Obese Rats than Their Lipid Fraction.
The Journal of nutritionDelivery of phosphatidylethanolamine blunts stress in hepatoma cells exposed to elevated palmitate by targeting the endoplasmic reticulum.
Cell death discoveryClass A1 scavenger receptor prevents obesity-associated blood pressure elevation through suppressing overproduction of vascular endothelial growth factor B in macrophages.
Cardiovascular researchAdenosine accumulation causes metabolic disorders in testes and associates with lower testosterone level in obese mice.
Molecular reproduction and developmentA Targeted Next Generation Sequencing Panel for Non-syndromic Early Onset Severe Obesity and Identification of Novel Likely -Pathogenic Variants in the MC4R and LEP Genes.
Indian journal of pediatricsGenetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity.
Obesity surgeryMendelian non-syndromic obesity.
Acta bio-medica : Atenei ParmensisDifferential contribution of Nox1, Nox2 and Nox4 to kidney vascular oxidative stress and endothelial dysfunction in obesity.
Redox biologyUniparental disomy and pretreatment IGF-1 may predict elevated IGF-1 levels in Prader-Willi patients on GH treatment.
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research SocietyAdipocyte-specific deletion of IL-6 does not attenuate obesity-induced weight gain or glucose intolerance in mice.
American journal of physiology. Endocrinology and metabolismGenetics of lipedema: new perspectives on genetic research and molecular diagnoses.
European review for medical and pharmacological sciencesTracing the effect of the melanocortin-4 receptor pathway in obesity: study design and methodology of the TEMPO registry.
The application of clinical geneticsExtensive Phenotyping for Potential Weight-Inducing Factors in an Outpatient Population with Obesity.
Obesity factsA comprehensive diagnostic approach to detect underlying causes of obesity in adults.
Obesity reviews : an official journal of the International Association for the Study of ObesityGenetic obesity increases pancreatic expression of mitochondrial proteins which regulate cholesterol efflux in BRIN-BD11 insulinoma cells.
Bioscience reportsA toddler with a novel LEPR mutation.
Hormones (Athens, Greece)Association between genetic obesity susceptibility and mother-reported eating behaviour in children up to 5 years.
Pediatric obesityIncreased brain age in adults with Prader-Willi syndrome.
NeuroImage. ClinicalObesity management in Prader-Willi syndrome: current perspectives.
Diabetes, metabolic syndrome and obesity : targets and therapyp53 Functions in Adipose Tissue Metabolism and Homeostasis.
International journal of molecular sciencesDipeptidyl-Peptidase 4 Inhibitor Sitagliptin Ameliorates Hepatic Insulin Resistance by Modulating Inflammation and Autophagy in ob/ob Mice.
International journal of endocrinologyHippocampal brain-derived neurotrophic factor determines recruitment of anatomically connected networks after stress in diabetic mice.
HippocampusGenetically Obese Human Gut Microbiota Induces Liver Steatosis in Germ-Free Mice Fed on Normal Diet.
Frontiers in microbiologyInsights into the Allosteric Mechanism of Setmelanotide (RM-493) as a Potent and First-in-Class Melanocortin-4 Receptor (MC4R) Agonist To Treat Rare Genetic Disorders of Obesity through an in Silico Approach.
ACS chemical neuroscienceGenetic obesity: next-generation sequencing results of 1230 patients with obesity.
Journal of medical geneticsAutoimmune pituitary involvement in Prader-Willi syndrome: new perspective for further research.
EndocrineObesity-induced overexpression of miRNA-24 regulates cholesterol uptake and lipid metabolism by targeting SR-B1.
GeneFinding treatable genetic obesity: strategies for success.
Current opinion in pediatricsDiscovery of dimethyl pent-4-ynoic acid derivatives, as potent and orally bioavailable DGAT1 inhibitors that suppress body weight in diet-induced mouse obesity model.
Bioorganic & medicinal chemistry lettersA Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome.
Cell reportsROHHAD Syndrome, a Rare Cause of Hypothalamic Obesity: Report of Two Cases.
Journal of clinical research in pediatric endocrinologyGenetic factors in sleep-disordered breathing.
Respiratory investigationEnoyl coenzyme A hydratase 1 protects against high-fat-diet-induced hepatic steatosis and insulin resistance.
Biochemical and biophysical research communicationsEffects of a combined intervention with a lentil protein hydrolysate and a mixed training protocol on the lipid metabolism and hepatic markers of NAFLD in Zucker rats.
Food & functionPyruvate induces torpor in obese mice.
Proceedings of the National Academy of Sciences of the United States of AmericaInteractome of Obesity: Obesidome : Genetic Obesity, Stress Induced Obesity, Pathogenic Obesity Interaction.
Advances in experimental medicine and biologyMetabolic biomarkers and gallstone disease - a population-based study.
Scandinavian journal of gastroenterologyEngineering brown fat into skeletal muscle using ultrasound-targeted microbubble destruction gene delivery in obese Zucker rats: Proof of concept design.
IUBMB lifeLetter by Koh Regarding Article, "Genetic Obesity and the Risk of Atrial Fibrillation: Causal Estimates from Mendelian Randomization".
CirculationFTO genotype and weight status among preadolescents: Assessing the mediating effects of obesogenic appetitive traits.
AppetiteLong-term effects of bariatric surgery in patients with obesity and chromosome 16 p11.2 microdeletion.
Surgery for obesity and related diseases : official journal of the American Society for Bariatric SurgeryMaternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation.
Molecular syndromologyDietary effects of Raphanus sativus cv Sango on lipid and oxysterols accumulation in rat brain: A lipidomic study on a non-genetic obesity model.
Chemistry and physics of lipidsObesity-induced discrepancy between contractile and metabolic phenotypes in slow- and fast-twitch skeletal muscles of female obese Zucker rats.
Journal of applied physiology (Bethesda, Md. : 1985)[Genetic obesity: new diagnostic options].
Nederlands tijdschrift voor geneeskundeGenetic Obesity Risk and Attenuation Effect of Physical Fitness in Mexican-Mestizo Population: a Case-Control Study.
Annals of human geneticsEffects of pterostilbene in brown adipose tissue from obese rats.
Journal of physiology and biochemistryA cafeteria diet triggers intestinal inflammation and oxidative stress in obese rats.
The British journal of nutritionAssociações
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Obesidade, genética e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
A obesidade genética é causada por variantes em genes responsáveis pela regulação neuroendócrina do gasto calórico e saciedade. Entre os genes associados catalogados estão LEPR, MC4R, POMC, AGRP e GHRL. O padrão de herança pode ser autossômico dominante ou autossômico recessivo.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
5 fontes citadas no texto · 8 publicações do grafo RarasNet (PubMed) · 5 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (2026). Obesidade, genética. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/obesidade-genetica
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Obesidade, genética
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Genética mendeliana
- fonte: OMIM
- NIH/GARD
- fonte: GARD (NIH)
- Dado público estruturado
- fonte: Wikidata
- Reposicionamento
- fonte: Drug Repurposing Hub
- Ensaios clínicos
- fonte: ClinicalTrials.gov
