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Doença genética gastroesofágica
ORPHA:165658DOENÇA RARA

Doença genética rara que afeta o esôfago e o estômago, causando dificuldades de deglutição, refluxo e dor. Pode envolver anomalias estruturais ou funcionais do trato digestivo superior.

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Introdução

O que você precisa saber de cara

Mantido pelo Disease Twin100% com fonte · atualizado 04/06/2026Revisão médica pendente
Informacoes curadas por IA — podem conter imprecisoes

Visão geral

A doença genética gastroesofágica é uma condição rara que afeta o sistema digestivo, especialmente a região onde o esôfago encontra o estômago. Por ser uma doença genética, ela está presente desde o nascimento, mas seus sintomas podem se manifestar em diferentes fases da vida. Ainda não há dados precisos sobre quantas pessoas são afetadas (prevalência) ou sobre o padrão de herança (como é transmitida na família).[1]

Sinais e sintomas

Não há uma lista específica de sinais e sintomas documentada para esta doença nas fontes oficiais disponíveis. Os sintomas podem variar amplamente entre os pacientes, dependendo das alterações genéticas envolvidas.[1]

Causas genéticas

A doença genética gastroesofágica é causada por alterações (mutações) em genes que ainda não foram identificados ou nomeados nas bases de dados científicas atuais. O gene específico responsável pela condição não está listado no momento.[1][2]

Diagnóstico

O diagnóstico é baseado na avaliação clínica do paciente, histórico familiar e exames complementares. Não há testes genéticos específicos disponíveis publicamente para esta condição (nenhuma variante registrada no ClinVar). O código de identificação da doença no banco de dados MONDO é MONDO:0015617.[1][2]

Tratamento e manejo

Não há medicamentos específicos aprovados ou protocolos de tratamento padronizados para esta doença nas fontes oficiais. O manejo é individualizado, focado no alívio dos sintomas e na melhora da qualidade de vida. No Brasil, a doença não possui cobertura pelo Sistema Único de Saúde (SUS) para procedimentos específicos.[1]

Prognóstico e qualidade de vida

Não há informações disponíveis nas fontes oficiais sobre o prognóstico (evolução esperada) ou impacto na qualidade de vida para esta condição específica.[1]

Fontes numeradas em Referências.

Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.

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EM LINGUAGEM SIMPLES

A doença genética gastroesofágica é um termo que reúne diferentes alterações genéticas que acometem a região gastroesofágica. Ela está catalogada sob o código internacional ORPHA:165658 como uma categoria ampla de doenças. Esta condição não consta na lista oficial de PCDT de doenças raras do Ministério da Saúde do Brasil. O acompanhamento dos pacientes é realizado pela rede assistencial do sistema público de saúde de acordo com cada caso.

Informacoes curadas por IA — podem conter imprecisoes
[1] Orphanet [16] Ministério da Saúde — lista oficial de…
📋
Informacoes curadas por IA — podem conter imprecisoes

Doença genética rara que afeta o esôfago e o estômago, causando dificuldades de deglutição, refluxo e dor. Pode envolver anomalias estruturais ou funcionais do trato digestivo superior.

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SUS: Sem cobertura SUSScore: 0%
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

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Anos de pesquisa2
Últimos 10 anos200publicações
Pico2025153 papers
Linha do tempo
2024Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Doença genética gastroesofágica

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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.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

The global cancer crisis: a review of growing burden, deepening inequality and initiatives for prevention and early detection.

Ecancermedicalscience2026

Cancer constitutes one of the most urgent global health crises, with over 20 million new cases diagnosed annually worldwide, claiming 10 million lives. This devastating burden disproportionately affects vulnerable populations: 75% of cancer deaths occur in low- and middle-income countries despite these regions having lower reported incidence rates. Lung cancer leads the global toll, representing 12% of all cases but 19% of deaths, followed by breast cancer (12% of cases) and colorectal cancer (9.6%). A stark geographical inequity defines the cancer landscape-while wealthy regions such as North America, Northern Europe and Australia report the highest incidence rates, Africa and Latin America suffer the highest mortality rates. This disparity will intensify dramatically: cancer deaths in low-income countries are projected to surge 155% compared to just 56% in high-income nations by 2050. The financial devastation compounds this crisis, with 56% of patients worldwide facing catastrophic health expenditures extending beyond medical costs to include lost income and reduced productivity. Economic burden varies starkly by wealth: 75% of patients in low-income countries experience financial catastrophe versus 58% in middle-income countries and 26% in high-income nations. However, cancer prevention offers unprecedented opportunities to transform this crisis through interventions we already possess. From largely preventable infectious cancers like stomach and cervical malignancies, to lifestyle-driven epidemics including lung and colorectal cancers, to complex multifactorial diseases like breast cancer. Evidence-based prevention strategies can dramatically reduce suffering while generating massive healthcare savings. Emerging genetic technologies amplify this potential: universal genetic testing and pharmacogenomics now enable identification of high-risk individuals before disease develops, allowing targeted prevention while optimising treatments based on individual genetic profiles. Cancer prevention represents not merely a health opportunity but an economic imperative. The primary barrier is no longer scientific understanding but systematic implementation. Governments, policymakers, insurance companies and the public urgently need clearer evidence and education demonstrating proven successes to motivate decisive action toward creating healthier populations and reducing cancer burdens worldwide.

#2

Impact of pediatric gastrointestinal disorders on learning and cognitive development in schoolchildren.

Annals of gastroenterology2026

Schoolchildren nowadays encounter multiple challenges within the teaching process. Learning disabilities (LD) are characterized as complex conditions that affect academic achievement and cognitive performance. LD are typically linked to neurodevelopmental and genetic factors. However, emerging evidence suggests they may be associated with gastrointestinal (GI) pathologies, including celiac disease, inflammatory bowel disease, irritable bowel syndrome, gastroesophageal reflux disease and Helicobacter pylori infection. The aforementioned GI disorders have been (indirectly) linked with a spectrum of outcomes, such as school functioning, attention regulation, fatigue, and broader cognitive and psychosocial development. The gut-brain axis enacts a crucial role in both cognition and behavior. Furthermore, functional GI disorders may also coexist with somatic symptom anxiety, including school refusal and hypervigilance to bodily sensations. A typical paradigm is emetophobia, an intense fear of vomit, which might result in food avoidance, social withdrawal or even academic disengagement. Moreover, iron and vitamin deficiencies, as manifestation of a malabsorption due to GI diseases, might impact concentration and memory. Additionally, sleep disturbances, chronic discomfort and psychological stress could deteriorate cognitive and educational functioning. This work reviews current evidence linking GI health to LD and related neurodevelopmental/psychological outcomes. Timely diagnosis and treatment, targeting both GI and psychological factors, might improve cognitive outcomes and learning potential in schoolchildren with LD. Future studies with longitudinal and interventional designs are warranted, in order to elucidate any causal relationships and to determine whether targeted treatment of GI disorders leads to objective improvement in learning and cognitive outcomes.

#3

Causal Associations between Gastroesophageal Reflux Disease and Gastroduodenal Ulcer: A Two-sample Mendelian Randomisation Study.

The American journal of the medical sciences2026 Mar 15

Both common diseases are gastroesophageal reflux disease (GERD) and gastroduodenal ulcer. However, whether GERD causes gastroduodenal ulcers remains uncertain or if the reverse relationship exists. Using Mendelian randomisation, we investigated the potential causal link between GERD and gastroduodenal ulcers. We conducted genome-wide genetic analyses based on extensive datasets: the European population GERD dataset (with 2,320,781 SNPs) and the gastroduodenal ulcer dataset (with 16,380,400 SNPs). We used the R language to perform five MR Analyses, including inverse variance weighting, MR-Egger regression, weighted median, weighted model, and simple model, to speculate on the potential causal relationship between GERD and gastroduodenal ulcer. Additionally, sensitivity analysis, heterogeneity, and horizontal pleiotropy tests were performed to assess the robustness of the MR results. Our study suggest a possible causal relationship between GERD and an increased risk of gastroduodenal ulcer (GU, IVW method, OR = 1.01) (95% CI: 1.00 - 1.01, P = 0.025). The weighted median method produced a similar estimate (OR = 1.01) (95% CI: 1.00 - 1.02; P = 0.019), whereas MR-Egger showed no significant association. No evidence of horizontal pleiotropy was observed. The reverse MR analysis indicated that GU did not have a causal influence on GERD.7 CONCLUSIONS: Our two-sample MR analysis supports the notion that GERD elevates the risk of gastroduodenal ulcers. However, further investigation is needed to elucidate the underlying mechanisms.

#4

Eosinophilic oesophagitis: pathophysiology, diagnosis, and treatment.

BMJ medicine2026

Eosinophilic oesophagitis is a chronic, immune mediated condition characterised by infiltration of eosinophils across the oesophageal mucosa and progressive oesophageal dysfunction. This specialist review explores the changes in understanding of eosinophilic oesophagitis across epidemiology, pathophysiology, diagnosis, and treatment. It highlights the interplay of genetic susceptibility, early life environmental exposures, and immune responses driven by type 2 helper T cells that underpin epithelial barrier dysfunction and fibrostenotic progression. Current diagnostic strategies rely on endoscopic biopsy, but emerging minimally invasive tests (including the oesophageal string test and transnasal endoscopy) offer promising alternatives for disease monitoring. Therapeutic approaches include dietary elimination, drug treatments (eg, proton pump inhibitors, topical corticosteroids), biologics (particularly dupilumab), and endoscopic dilation for fibrostenotic complications. Evidence from landmark trials and guidelines to support phenotype driven, patient centred management are also reviewed. As eosinophilic oesophagitis prevalence continues to rise globally, recent advances in targeted treatments and diagnostics are redefining long term care.

#5

Targeting APE1-Redox Function Reverses SOX9-mediated Chemoresistance in Esophageal Adenocarcinoma.

Gastroenterology2026 Mar 02

Gastroesophageal reflux disease is the leading risk factor for esophageal adenocarcinoma (EAC), a malignancy that exhibits marked resistance to chemotherapy and results in poor clinical outcomes. This study aims to define and overcome the mechanisms underlying chemoresistance in EAC to enable the development of novel therapeutic strategies. The study included analysis of RNA sequencing and public datasets. Experimental models consisted of 3-dimensional organotypic cultures, tumorospheres, patient-derived organoids, and de-identified tissue microarrays. In vivo experiments utilized the pL2-IL1β, Krt7CreER;R26rtTA;otet-CDX2, and patient-derived xenograft mouse models. RNA sequencing revealed a significant enrichment of the SRY-Box Transcription Factor 9 (SOX9) molecular signature in patients with EAC. We identified an apurinic/apyrimidinic endonuclease (APE1)-dependent mechanism that activates SOX9 signaling on exposure to acidic bile salts, mimicking reflux conditions. Genetic knockdown or pharmacological inhibition of APE1's redox activity suppressed SOX9 activation under both reflux-mimicking conditions and oxaliplatin treatment. The redox function of APE1 was required to stabilize the SOX9 protein. Immunostaining demonstrated co-overexpression of APE1 and SOX9 in mouse and human EAC lesions, accompanied by Aldehyde Dehydrogenase 1 Family Member A1 expression, a SOX9 transcriptional target implicated in chemotherapeutic resistance. Clinically, patients with high SOX9 signature expression had significantly worse relapse-free survival. Moreover, in vivo treatment with the APE1-redox-specific inhibitor APX2009 enhanced the response of patient-derived xenograft tumors to oxaliplatin by downregulating SOX9. Activation of SOX9 through the APE1-redox function is a key driver of EAC chemoresistance. Targeting APE1's redox activity offers a promising therapeutic strategy to overcome resistance by inhibiting the otherwise "undruggable" SOX9 transcription network.

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2026

The global cancer crisis: a review of growing burden, deepening inequality and initiatives for prevention and early detection.

Ecancermedicalscience
2026

Monitoring treatment response using an ultra-sensitive ctDNA assay in advanced esophagogastric cancer patients.

Scientific reports
2026

Impact of pediatric gastrointestinal disorders on learning and cognitive development in schoolchildren.

Annals of gastroenterology
2026

Genetic causal association between kidney stones and proton pump inhibitors.

International urology and nephrology
2026

Causal Associations between Gastroesophageal Reflux Disease and Gastroduodenal Ulcer: A Two-sample Mendelian Randomisation Study.

The American journal of the medical sciences
2026

Eosinophilic oesophagitis: pathophysiology, diagnosis, and treatment.

BMJ medicine
2026

The epidemiology of cubital tunnel syndrome: a UK Biobank case-control study.

The Journal of hand surgery, European volume
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Beamion PANTUMOR-1: rationale and design of a Phase II trial of zongertinib in HER2-overexpressed/amplified or HER2-mutant solid tumors.

Future oncology (London, England)
2026

Targeting APE1-Redox Function Reverses SOX9-mediated Chemoresistance in Esophageal Adenocarcinoma.

Gastroenterology
2026

Unilateral Multicystic Dysplastic Kidney in a Fetus Associated With Parental Genetic and Environmental Risk Factors: A Case Report.

Cureus
2026

CYP2C19 genetic polymorphisms and proton pump inhibitor therapy resistance in patients with gastrooesophageal reflux disease: a preliminary observational cohort study.

Drug metabolism and personalized therapy
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Genetic evidence links alcohol, coffee, cheese, and anxiety to GERD risk: A Mendelian randomization study.

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2026

Gastrointestinal Manifestations in Rubinstein-Taybi Syndrome.

American journal of medical genetics. Part A
2026

Interstitial cystitis: a phenotype and rare variant exome sequencing study.

EBioMedicine
2026

Undernutrition and Clinical Deterioration in Children with Cystic Fibrosis: Findings from a Prospective Study.

Anais da Academia Brasileira de Ciencias
2026

Cross-trait genetic enrichment between GERD and psychiatric disorders in East Asian populations.

Frontiers in genetics
2026

Oral health status and esophageal diseases: Univariate and multivariate Mendelian randomization analyses.

Medicine
2026

Diagnostic and Therapeutic Challenges Related to HER2 Heterogeneity in Gastric Cancer: Bridging Molecular Pathology and Clinical Decision-Making.

International journal of molecular sciences
2026

Shared genetic architecture of obesity and gastroesophageal reflux disease.

Medicine
2026

CYP2C19 genotype-guided dosing of proton pump inhibitors: progress in clinical trials and real-world use.

Expert review of clinical pharmacology
2026

VSIG10L is a major determinant of esophageal homeostasis and inherited predisposition to Barrett's esophagus.

Nature communications
2026

Gastric cancer attributable to Helicobacter pylori in 2040.

Gut
2026

Clinical and genetic characterization of non-optimal triptan response among migraine patients.

Cephalalgia : an international journal of headache
2026

MicroRNAs in Esophageal Cancer: Implications for Diagnosis, Progression, Prognosis and Chemoresistance.

International journal of molecular sciences
2025

Retrograde Cricopharyngeal Dysfunction: An Update of Pathophysiological Mechanisms and Future Directions.

Toxins
2025

The Bidirectional Relationship Between Gastroesophageal Reflux Disease (GERD) and Asthma in Pediatric and Adult Populations: A Systematic Review.

Cureus
2026

Gene, genetics and genetic medicines in gastroenterology: Current status and its future.

World journal of gastroenterology
2026

Associations of phenotypic age acceleration, genetic risk, and lifestyle with chronic digestive diseases: A large-scale longitudinal cohort study.

The journal of nutrition, health & aging
2026

Is gastroesophageal reflux linked to inflammation-related gestational complications and poor obstetric history?

BMC pregnancy and childbirth
2026

The role of gene polymorphisms in the occurrence of gastroesophageal reflux disease: A systematic review and meta-analysis of genetic association studies.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
2026

Phenotypic Expansion of Autosomal Dominant SREBF1-Related Ichthyosis Follicularis, Atrichia, Photophobia: It Is in Fact the Same Condition as Hereditary Mucoepithelial Dysplasia.

Clinical genetics
2026

Transformer-based InsightGWAS improves GERD genetic discovery via pretraining on GWAS for major depressive disorder.

Communications biology
2026

Machine learning for screening laryngopharyngeal reflux symptoms in college students: a cross-sectional study.

Annals of medicine
2026

Circulating tumor DNA informs clinical practice in patients with recurrent/metastatic gastroesophageal cancers.

Cancer
2026

A machine-learning informed circulating microbial DNA signature for early diagnosis of esophageal adenocarcinoma.

Gut microbes
2025

The ratio of omega-6 fatty acids to omega-3 fatty acids mediating the effect of gastroesophageal reflux disease on pancreatic cancer risk: a two-step mediation Mendelian randomisation study.

BMC gastroenterology
2025

Non-pharmacological approaches in gastroesophageal reflux disease: Evidence-based dietary and lifestyle interventions.

Best practice & research. Clinical gastroenterology
2026

Claudin 18.2 in cancer research and treatment: a pathologist's perspective.

Journal of clinical pathology
2026

Ocular Safety Evaluation of Bemarituzumab in FGFR2b-Overexpressing Gastroesophageal Adenocarcinoma: A 42-Week Follow-Up Study.

Ocular immunology and inflammation
2026

Evidence for acid-sensing ion channel 3 (ASIC3) involvement in cough resulting from aspiration of gastric fluid.

The Journal of physiology
2025

[Immunotherapy of esophageal, GEJ and gastric tumors].

Magyar onkologia
2025

Non-Invasive Biomarkers for Eosinophilic Esophagitis: Latest Developments and Future Directions.

Journal of clinical medicine
2025

Associations Between Non-Genetic Risk Factors and DNA Methylation Alterations in Barrett's Esophagus and Its Progression to Esophageal Adenocarcinoma.

International journal of molecular sciences
2025

Association of the microbiome with pre-epithelial barrier impairment in individuals with laryngopharyngeal reflux.

BMC microbiology
2025

Clonal cell states link gastroesophageal junction tissues with metaplasia and cancer.

Nature communications
2025

Genomic complexity in advanced gastric and esophageal adenocarcinomas: a case report of rare WDR11-AS1-FGFR2 fusions.

Frontiers in oncology
2025

NCI 10211: a phase II, single-arm study of berzosertib in combination with irinotecan in patients with advanced TP53 mutant gastroesophageal cancer.

The oncologist
2025

Cross-sectional study on association of autoantibodies and organ involvement in systemic sclerosis patients.

The Medical journal of Malaysia
2026

Biomarkers of aspiration in gastroesophageal reflux-related respiratory disease: A scoping review.

Respiratory medicine
2026

Pharmacokinetics and Bioequivalence of Ilaprazole Enteric-Coated Tablets in Healthy Chinese Volunteers: A Two-Sequence, Four-Period, Fully Replicated Crossover Study.

Clinical pharmacology in drug development
2025

Identification of shared molecular biomarkers and pathogenic mechanisms between gastroesophageal reflux disease and ischemic stroke via integrated machine learning.

Medicine
2025

The mediating role of dietary habits in the causal relationships between frailty, depression, and gastroesophageal reflux disease.

Medicine
2026

Relative telomere length and senescence-associated inflammatory cytokines as blood-based prognostic markers in patients with advanced or resectable gastro-oesophageal adenocarcinoma.

British journal of cancer
2026

Obesity-Associated TRIM15 Promotes the Proliferation of Esophageal Adenocarcinoma Through the YY2/FOXRED1 Axis.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Gene-Diet interaction between FTO rs9939609 and fiber intake in relation to GERD susceptibility.

Molecular biology reports
2025

Gastroesophageal reflux disease and risk of atrial fibrillation/flutter: Implications for heart failure progression.

ESC heart failure
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CLDN18.2 expression in gastroesophageal adenocarcinoma: prevalence, heterogeneity, and prognostic implications in Spanish patients.

Virchows Archiv : an international journal of pathology
2025

Congenital disorder of glycosylation type IIb in an infant with developmental and epileptic encephalopathy.

BMJ case reports
2025

The relationship between otitis media and gastroesophageal reflux disease: A 2-sample Mendelian randomization analysis.

Medicine
2025

Genetic evidence linking gastroesophageal reflux disease to chronic kidney disease and kidney failure: a two-step Mendelian randomization study.

Renal failure
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Pre-pandemic disease trajectories and genetic insights into long COVID susceptibility.

BMC medicine
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Monitoring and Assessment of Circulating Tumor DNA in Cancers Using Ultrarapid Sensitivity as an Innovative Practice.

Health science reports
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Mapping Gastroesophageal Reflux Disease and Coronary Artery Disease: A Comprehensive Analysis of Multivariable Mendelian Randomization and Shared Genetic Etiology.

Clinical cardiology
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Beamion BCGC-1: phase Ib/II trial of zongertinib for advanced HER2-positive breast or gastroesophageal cancers.

Future oncology (London, England)
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Genomic structural equation modeling identifies shared genetic architecture and novel loci for halitosis.

Scientific reports
2025

Pseudodominant Inheritance of Biallelic RFC1 Expansions-Revisiting the 3p22-p24 HSN1B Locus.

Journal of the peripheral nervous system : JPNS
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Genetically Predicted Gastroesophageal Reflux Disease and Common Thyroid Disorders: A Two-sample Mendelian Randomization Study.

Current medicinal chemistry
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Cystic fibrosis liver disease progression in the era of elexacaftor-tezacaftor-ivacaftor.

JHEP reports : innovation in hepatology
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Optimizing acid-related disease management: insights into potassium-competitive acid blockers and proton pump inhibitors.

European journal of clinical pharmacology
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Optimal Cannabinoid-Terpene Combination Ratios Suppress Mutagenicity of Gastric Reflux in Normal and Metaplastic Esophageal Cells.

bioRxiv : the preprint server for biology
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Genetic determinants of monocyte splicing are enriched for disease susceptibility loci.

Nature communications
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Neoadjuvant CTLA-4/PD-(L)1 Blockade Versus Surgery +/- Chemotherapy in Deficient Mismatch Repair/Microsatellite Instability-High Resectable Gastroesophageal Adenocarcinoma: Individual Patient Data Pooled Analysis.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology
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The relationship between insomnia and multiple gastrointestinal disorders: a Mendelian randomization study.

BMC gastroenterology
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Exploring Potential Hub Genes and Molecular Mechanisms Linking Cardia Carcinoma With Sjögren's Syndrome Based on Comprehensive Bioinformatics Analysis and Machine Learning.

The journal of gene medicine
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Impact of claudin 18.2 expression on treatment outcomes of first-line immunochemotherapy in patients with HER2-negative, proficient MMR, PD-L1 CPS ⩾1 metastatic gastric/gastroesophageal junction cancer.

Therapeutic advances in medical oncology
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Association of CYP2C19 Phenotype on Historical Medication Prescribing for Gastroesophageal Reflux Disease.

The Annals of pharmacotherapy
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Etiology and Pathophysiology of Barrett's Esophagus/Neoplasia.

Digestion
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Refractory Hypophosphatemia Secondary to Tumor-Induced Osteomalacia: Diagnostic Challenges and Successful Management With Burosumab.

Cureus
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Unveiling the genetic overlap and causal links between gastroesophageal reflux disease and asthma.

International journal of surgery (London, England)
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Ammonia-to-Urea Ratio: A Noninvasive First-Line Tool for Detecting Clinically Significant Portal Hypertension.

JGH open : an open access journal of gastroenterology and hepatology
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Causal relationship between gastroesophageal reflux disease and 7 types of hernias: A bidirectional Mendelian randomization study.

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Gastroesophageal reflux disease and risk of laryngeal cancer: A Mendelian randomization study.

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Why Every Asthma Patient Tells a Different Story.

Journal of clinical medicine
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Two Cases of Charcot-Marie-Tooth Disease Diagnosed in a 53-Year-Old Mother and a 24-Year-Old Daughter.

The American journal of case reports
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Diet, genetic factors, and the risk of gastroesophageal reflux disease, Barrett's esophagus and esophageal adenocarcinoma.

Food & function
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Human Epidermal Growth Factor Receptor 2 [HER-2/neu] Amplification and Microsatellite Stable Status in Gastric and Gastroesophageal Adenocarcinoma: Assessing Frequency and Prognostic Implications at the Cancer Institute of Iran.

Cancer reports (Hoboken, N.J.)
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Association Between Gastroesophageal Reflux Disease, Barrett's Esophagus and Ear Disorders: A Mendelian Randomization Study.

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Causal Relationship Between Cataracts and Gastrointestinal Diseases: A Two-Sample Mendelian Randomization Study.

Translational vision science & technology
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Increased reflux secondary bile acids are associated with changes to the microbiome and transcriptome in Barrett's esophagus.

Gut microbes
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Recurrent fexuprazan-induced liver injury following unintentional re-exposure.

British journal of clinical pharmacology
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The causal relationship between chronic obstructive pulmonary disease and Barrett's esophagitis: A two-sample Mendelian randomization study.

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Laparoscopic Treatment of Severe Gastroesophageal Reflux Disease (GERD) in Schaaf-Yang Syndrome: First Report of Toupet Fundoplication.

Cureus
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Mutational Landscape Assessed in Tumor Tissue and Circulating Tumor DNA During Treatment of Patients with HER2/ERBB2-Mutated Solid Tumors.

BMC cancer
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ALDH18A1 has carcinogenic functions and regulates alternative splicing events of DNA repair-related genes in esophageal carcinoma cells.

Scientific reports
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Deciphering genetic overlaps between pulmonary tuberculosis and GERD for drug target discovery: A structural bioinformatics perspective.

Microbial pathogenesis
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Causal Relationships Between Modifiable Risk Factors and Gastroesophageal Reflux Disease: A Two-Sample Mendelian Randomization Study.

Current medicinal chemistry
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Targeting DRP1Ser637 Phosphorylation Alleviates Acidic Bile Salt-Induced NF-κB Activation via Mitochondrial Protection.

Journal of gastroenterology and hepatology
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Low frequency of HER2 expression in colorectal cancer: A Tunisian single-center study.

Cellular and molecular biology (Noisy-le-Grand, France)
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Key Aspects in the Nutritional Management of Polycystic Liver Disease Patients.

Nutrients
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Causal Relationships Between Gastroesophageal Reflux Disease and Myocardial Infarction: Insights From Univariable and Multivariable Mendelian Randomization Analyses.

Annals of human genetics
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Management of Dental Demineralization in a Patient with Complex Medical Conditions: A Case Report and Clinical Outcomes.

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Gene- and immune-targeted therapy combinations using dual-matched biomarkers for patient selection.

NPJ precision oncology
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Genetic Analyses Identify Human Serum Metabolites Associated With Risk of Gastroesophageal Reflux Disease: A Mendelian Randomization Study.

British journal of hospital medicine (London, England : 2005)
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Causal relationship between gastroesophageal reflux disease and IgA nephropathy: a Mendelian randomization analysis.

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FGFR2b protein overexpression: An emerging biomarker in gastric and gastroesophageal junction adenocarcinoma.

Cancer treatment reviews
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CLDN18.2-targeting antibody-drug conjugate IBI343 in advanced gastric or gastroesophageal junction adenocarcinoma: a phase 1 trial.

Nature medicine
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Helicobacter pylori Infection and Eradication in Relation to Gastroesophageal Reflux Disease.

Journal of gastroenterology and hepatology
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Association between antibody-mediated immune responses and gastroesophageal reflux disease: Evidence from genetic studies.

Medicine
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Efficacy of perioperative and neoadjuvant therapies in gastric and gastroesophageal junction adenocarcinoma: a network meta-analysis.

The oncologist
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Amprenavir Mitigates Pepsin-Induced Transcriptomic Changes in Normal and Precancerous Esophageal Cells.

International journal of molecular sciences
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DKN-01 and tislelizumab as second-line therapy in DKK1-high gastroesophageal adenocarcinoma: DisTinGuish trial part B.

Nature communications
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LncRNA small nucleolar RNA host gene 1 (SNHG1) mediates acidic bile salt-induced EMT via the ULK1-Notch1 axis in Barrett's esophagus.

Molecular biomedicine
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Assessment of Public Awareness and Prevalence of Asthma Comorbidities in Al-Qunfudhah, Saudi Arabia.

Cureus
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ONO-4578 Plus Nivolumab in Unresectable Advanced or Recurrent Gastric or Gastroesophageal Junction Cancer.

Cancer science
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Causal relationship between COVID-19, vaccination, and 20 digestive diseases: a comprehensive two-sample Mendelian randomization study.

Virology journal
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Differential Causal Associations of Chronic Gastritis and Ulcerative Colitis with Melanoma Risk: A Mendelian Randomization Study Using Large-Sample GWAS Data.

Clinical, cosmetic and investigational dermatology
2025

Association between comorbidity and chronic obstructive pulmonary disease: a systematic review and meta-analysis of Mendelian randomization studies.

Therapeutic advances in respiratory disease
2025

Gastric cancer: from biomarkers to functional precision medicine.

Trends in molecular medicine
2025

Prevalence and management of gastrointestinal complications in Duchenne muscular dystrophy: A retrospective cohort study.

Brain & development
2025

Genetic Evidence of Association Between Gastroesophageal Reflux Disease and Hypertensive Disorders in Pregnancy.

JGH open : an open access journal of gastroenterology and hepatology
2025

Long-term quality of life after sleeve gastrectomy vs Roux-en-Y Gastric Bypass in patients with severe obesity: Results from the SleeveBypass multicentre randomised controlled trial.

European journal of internal medicine
2025

Describing Clinical Characteristics and Treatment Course of Patients with Hereditary Alpha-tryptasemia: A Single-center Study.

Clinical reviews in allergy & immunology
2025

A Reflux Linked GATA Factor Fulcrum Dictates Lineage Commitment Through GPRC5B During the Esophageal Dysplastic Transition.

Cellular and molecular gastroenterology and hepatology
2025

Negative emotions mediate the causal association between GERD and MG: A mediation Mendelian randomization study.

Medicine
2025

Mood instability and 22 gastrointestinal disorders: investigating the causal relationships and the mediating factors by Mendelian randomization analysis.

Journal of affective disorders
2025

Deciphering the dual role of autophagy in gastric cancer and gastroesophageal junction cancer: from tumor suppression to cancer progression.

Discover oncology
2025

Zanidatamab plus chemotherapy as first-line treatment for patients with HER2-positive advanced gastro-oesophageal adenocarcinoma: primary results of a multicentre, single-arm, phase 2 study.

The Lancet. Oncology
2025

X-linked hypohidrotic ectodermal dysplasia associated with gastroesophageal reflux disease.

Molecular genetics and metabolism reports
2025

Inflammatory diseases and risk of lung cancer among individuals who have never smoked.

Nature communications
2025

Commentary: The causal role of gastroesophageal reflux disease in endometriosis: a bidirectional Mendelian randomization study.

Frontiers in medicine
2025

Exploration of the potential therapeutic effects and targets of Coriandrum sativum on non-erosive esophagitis based on bioinformatics and molecular dynamics simulation.

Scientific reports
2025

Tegoprazan: a novel, highly selective, and potent potassium-competitive acid blocker (P-CAB).

European journal of clinical pharmacology
2025

Causal relationships between 91 inflammatory cytokines and gastroesophageal reflux disease, and the mediating role of related metabolites: Evidence from genetics.

Medicine
2025

Does paired genetic testing improve targeted therapy choices and screening recommendations for patients with upper gastrointestinal cancers and their families? A prospective cohort of 42 patients.

BMJ open
2025

Post-traumatic stress disorder, attention deficit and hyperactivity disorder, and 24 gastrointestinal diseases: Evidence from Mendelian randomization analysis.

Medicine
2025

Multidimensional Assessment of Psychiatric Adverse Events Related to Proton Pump Inhibitors: A Real-World, Pharmacovigilance Study.

CNS neuroscience & therapeutics
2025

Risk factors associated with hiatal hernia: a retrospective study and two-sample Mendelian randomization.

Surgical endoscopy
2025

Zanidatamab monotherapy or combined with chemotherapy in HER2-expressing gastroesophageal adenocarcinoma: a phase 1 trial.

Nature communications
2025

Biomarker-Driven Approach to the Treatment of Metastatic Gastric or Gastroesophageal Adenocarcinoma.

Journal of the National Comprehensive Cancer Network : JNCCN
2025

QX-314 inhibits acid-induced esophageal hypersensitivity by regulating TRPV1/NaV1.8 receptor pathway.

International immunopharmacology
2025

Shared genetic architecture of gastroesophageal reflux disease and age related phenotypes.

Scientific reports
2025

Diagnostic Management of Pediatric Bronchiectasis: A Literature Review and Clinical Examples.

Respiration; international review of thoracic diseases
2025

Causal relationship between gastroesophageal reflux disease and the risk of chronic suppurative otitis media: a mendelian randomization analysis.

SAGE open medicine
2025

Non-Cystic Fibrosis Bronchiectasis in Adults: A Review.

JAMA
2025

Multiple primary tumors patient developed microsatellite stable gastric cancer after cadonilimab treatment for liver cancer: A case report.

World journal of clinical oncology
2025

Causal relationship between serum urate and asthma: a Mendelian randomization study.

The Journal of asthma : official journal of the Association for the Care of Asthma
2025

Exploring the genetic link between gastroesophageal reflux disease and pancreatic cancer: insights from Mendelian randomization.

BMC cancer
2025

Assessing the causal association between age at menarche and genetic susceptibility to future gastroesophageal reflux disease risks: A two-sample Mendelian randomization study.

Pediatrics and neonatology
2025

Multi-omics evaluation of peritoneal fluid in gastroesophageal cancer (OMEGCA): protocol for a prospective multicentre cohort study to detect occult peritoneal metastases in patients undergoing curative-intent treatment.

PloS one
2025

Molecular and Functional Recovery of Esophageal Barrier Integrity After Laparoscopic Anti-reflux Surgery.

Digestive diseases and sciences
2024

Shared and Unique Genetic Links between Neuroticism and Gastrointestinal Tract Diseases.

Depression and anxiety
2025

The Associations of Tobacco, Alcohol, and Coffee Consumption with Upper and Lower Gastrointestinal Disease Risk: A Mendelian Randomization Study.

Gut and liver
2025

Study on the common mechanisms of gastroesophageal reflux disease and interstitial lung disease.

Human immunology
2025

Gastroesophageal reflux disease and osteoporosis: A bidirectional Mendelian randomization study.

Medicine
2025

Decoding the complexity: mechanistic insights into comorbidities in idiopathic pulmonary fibrosis.

The European respiratory journal
2025

Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.

American journal of medical genetics. Part A
2025

A genome-wide cross-trait analysis characterizes the shared genetic architecture between lung and gastrointestinal diseases.

Nature communications
2025

Molecular Abnormalities and Carcinogenesis in Barrett's Esophagus: Implications for Cancer Treatment and Prevention.

Genes
2025

Analysis of Molecular Aspects of Periodontitis as a Risk Factor for Neurodegenerative Diseases: A Single-Center 10-Year Retrospective Cohort Study.

International journal of molecular sciences
2025

Observational, causal relationship and shared genetic basis between cholelithiasis and gastroesophageal reflux disease: evidence from a cohort study and comprehensive genetic analysis.

GigaScience
2025

Loss of FXR or Bile Acid-dependent Inhibition Accelerate Carcinogenesis of Gastroesophageal Adenocarcinoma.

Cellular and molecular gastroenterology and hepatology
2025

Association between gestational diabetes mellitus and offspring health: a two-sample mendelian randomization study.

BMC pregnancy and childbirth
2025

The relationship between amino acids and gastroesophageal reflux disease: evidence from a mendelian randomization analysis combined with a meta-analysis.

Frontiers in immunology
2025

Associations between gastroesophageal reflux disease and otolaryngological diseases.

Medicine
2025

Determinants of Response to Sequential Pembrolizumab with Trastuzumab plus Platinum/5-FU in HER2-Positive Gastric Cancer: A Phase II Chemoimmunotherapy Trial.

Clinical cancer research : an official journal of the American Association for Cancer Research
2025

PD-1 antibody camrelizumab plus apatinib and SOX as first-line treatment in patients with AFP-producing gastric or gastro-esophageal junction adenocarcinoma (CAP 06): a multi-center, single-arm, phase 2 trial.

Signal transduction and targeted therapy
2025

First-Line Tislelizumab Plus Chemotherapy for Advanced Gastric Cancer with Programmed Death-Ligand 1 Expression ≥ 1%: A Retrospective Analysis of RATIONALE-305.

Advances in therapy
2025

Non-coding RNAs in thoracic disease: Barrett's esophagus and esophageal adenocarcinoma.

Clinica chimica acta; international journal of clinical chemistry
2025

Mediating effects of gastroesophageal reflux disease and smoking behavior on the relationship between depression and chronic obstructive pulmonary disease: Trans-ethnic Mendelian randomization study.

Journal of affective disorders
2026

Gastrointestinal traits, common inflammatory disorders, gallstones, and biliary tract cancer: A network Mendelian randomization study.

Journal of advanced research
2025

Diagnostic Evaluation and Clinical Findings in Children With Persistent Tachypnea of Infancy/Neuroendocrine Cell Hyperplasia of Infancy: A European Multicenter Retrospective Study.

Chest
2025

[The role of surgery in preventing esophageal cancer].

Bulletin du cancer
2025

Exploring the silent connection: unveiling the intricate relationship between gastroesophageal reflux disease and sleep apnea syndrome.

Human genomics
2025

Sedentary Leisure Behaviour, Physical Activity, and Gastroesophageal Reflux Disease: Evidence From a Mendelian Randomization Analysis.

Health science reports
2025

Interstitial Cystitis: a phenotype and rare variant exome sequencing study: Interstitial Cystitis: a phenotype and exome sequencing study.

medRxiv : the preprint server for health sciences
2025

The Association Between Gastroesophageal Reflux Disease and Atrial Fibrillation: A Systematic Review and Meta-Analysis.

Cureus
2025

A novel ingredients recipe derived from Shugan-Hewei Formula targeting chemical carcinogenesis-ROS signaling pathway treated gastroesophageal reflux disease.

Journal of ethnopharmacology
2025

Role of Epigenetics in Chronic Lung Disease.

Cells
2025

Causal association between gastroesophageal reflux disease and sepsis, and the mediating role of gut bacterial abundance, a Mendelian randomization study.

Medicine
2025

Untangling immune cell contributions in the progression from GERD to Barrett's esophagus and esophageal cancer: Insights from genetic causal analysis.

International immunopharmacology
2025

Genetic evidence for amlodipine's protective role in gastroesophageal reflux disease: A focus on CACNB2.

PloS one
2025

Expanding the Gastrointestinal Phenotype of 10p15.3 Microdeletion Syndrome: Refractory Atypical Gastroparesis in an Adult.

Cureus
2025

Hewei Jiangni granule alleviates visceral hypersensitivity of non-erosive reflux diseasestromal interaction molecule 1/transient receptor potential vanilloid subfamily member 1 pathway.

Journal of traditional Chinese medicine = Chung i tsa chih ying wen pan
2024

Multifocal neuromuscular hamartoma with smooth muscle and Schwannian components.

BMJ case reports
2025

Modifiable factors for irritable bowel syndrome: evidence from Mendelian randomisation approach.

eGastroenterology
2025

The Dynamic Evolution of Eosinophilic Esophagitis.

Diagnostics (Basel, Switzerland)
2025

Histology of the Upper Gastrointestinal Tract, Morphometry and Lymphocyte Subpopulations of the Duodenal Mucosa: Insights from Healthy Individuals.

International journal of molecular sciences
2025

How do I treat dMMR/MSI gastro-oesophageal adenocarcinoma in 2025? A position paper from the EORTC-GITCG gastro-esophageal task force.

Cancer treatment reviews
2025

CAR-macrophage therapy for HER2-overexpressing advanced solid tumors: a phase 1 trial.

Nature medicine
2025

Phase 2 study of futibatinib in patients with gastric or gastroesophageal junction cancer harboring FGFR2 amplifications.

European journal of cancer (Oxford, England : 1990)
2025

Novel risk loci encompassing genes influencing STAT3, GPCR, and oxidative stress signaling are associated with co-morbid GERD and COPD.

PLoS genetics
2025

Causal relationship between gastroesophageal reflux disease and chronic obstructive respiratory disease: A bidirectional Mendelian randomization study.

Heliyon
2025

Gut microbiota, inflammatory cytokines and gastro-esophageal reflux disease: A Mendelian randomization analysis.

Medicine
2025

Multi-omics sequencing of gastroesophageal junction adenocarcinoma reveals prognosis-relevant key factors and a novel immunogenomic classification.

Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association
2025

Phenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams-Beuren Syndrome.

American journal of medical genetics. Part A
2025

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Clinical genetics
2025

Dexlansoprazole is an aryl hydrocarbon receptor agonist.

Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association
2025

Integrating genetics and transcriptomics to characterize shared mechanisms in digestive diseases and psychiatric disorders.

Communications biology
2024

Association between gastroesophageal reflux disease and venous thromboembolism: A Mendelian randomization study.

Medicine
2025

Supraglottoplasty outcomes and peri-operative care in congenital laryngomalacia.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Respostas geradas por IA a partir das fontes citadas

É uma classificação médica que engloba condições genéticas que atingem o trato gastroesofágico. No catálogo internacional Orphanet, ela é identificada pelo código ORPHA:165658.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

3 fontes citadas no texto · 10 publicações do grafo RarasNet (PubMed) · 3 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. MONDO
    purl.obolibrary.org
  2. Digestive outcomes in Cystic fibrosis.
    Best Pract Res Clin Gastroenterol2022PMID 35331400
  3. Q55785597
    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.

Citar este verbete

Raras. (2026). Doença genética gastroesofágica. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/doenca-genetica-gastroesofagica

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Compêndio · Raras BR

Doença genética gastroesofágica

ORPHA:165658 · MONDO:0015617
MedGen
UMLS
C5680437
Wikidata

📋 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
Dado público estruturado
fonte: Wikidata
Rara