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.
Introdução
O que você precisa saber de cara
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
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]
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
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.
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.
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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
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 — Doença genética gastroesofágica
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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Human immunologyGastroesophageal reflux disease and osteoporosis: A bidirectional Mendelian randomization study.
MedicineDecoding the complexity: mechanistic insights into comorbidities in idiopathic pulmonary fibrosis.
The European respiratory journalExpanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.
American journal of medical genetics. Part AA genome-wide cross-trait analysis characterizes the shared genetic architecture between lung and gastrointestinal diseases.
Nature communicationsMolecular Abnormalities and Carcinogenesis in Barrett's Esophagus: Implications for Cancer Treatment and Prevention.
GenesAnalysis of Molecular Aspects of Periodontitis as a Risk Factor for Neurodegenerative Diseases: A Single-Center 10-Year Retrospective Cohort Study.
International journal of molecular sciencesObservational, causal relationship and shared genetic basis between cholelithiasis and gastroesophageal reflux disease: evidence from a cohort study and comprehensive genetic analysis.
GigaScienceLoss of FXR or Bile Acid-dependent Inhibition Accelerate Carcinogenesis of Gastroesophageal Adenocarcinoma.
Cellular and molecular gastroenterology and hepatologyAssociation between gestational diabetes mellitus and offspring health: a two-sample mendelian randomization study.
BMC pregnancy and childbirthThe relationship between amino acids and gastroesophageal reflux disease: evidence from a mendelian randomization analysis combined with a meta-analysis.
Frontiers in immunologyAssociations between gastroesophageal reflux disease and otolaryngological diseases.
MedicineDeterminants 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 ResearchPD-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 therapyFirst-Line Tislelizumab Plus Chemotherapy for Advanced Gastric Cancer with Programmed Death-Ligand 1 Expression ≥ 1%: A Retrospective Analysis of RATIONALE-305.
Advances in therapyNon-coding RNAs in thoracic disease: Barrett's esophagus and esophageal adenocarcinoma.
Clinica chimica acta; international journal of clinical chemistryMediating 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 disordersGastrointestinal traits, common inflammatory disorders, gallstones, and biliary tract cancer: A network Mendelian randomization study.
Journal of advanced researchDiagnostic Evaluation and Clinical Findings in Children With Persistent Tachypnea of Infancy/Neuroendocrine Cell Hyperplasia of Infancy: A European Multicenter Retrospective Study.
Chest[The role of surgery in preventing esophageal cancer].
Bulletin du cancerExploring the silent connection: unveiling the intricate relationship between gastroesophageal reflux disease and sleep apnea syndrome.
Human genomicsSedentary Leisure Behaviour, Physical Activity, and Gastroesophageal Reflux Disease: Evidence From a Mendelian Randomization Analysis.
Health science reportsInterstitial Cystitis: a phenotype and rare variant exome sequencing study: Interstitial Cystitis: a phenotype and exome sequencing study.
medRxiv : the preprint server for health sciencesThe Association Between Gastroesophageal Reflux Disease and Atrial Fibrillation: A Systematic Review and Meta-Analysis.
CureusA novel ingredients recipe derived from Shugan-Hewei Formula targeting chemical carcinogenesis-ROS signaling pathway treated gastroesophageal reflux disease.
Journal of ethnopharmacologyRole of Epigenetics in Chronic Lung Disease.
CellsCausal association between gastroesophageal reflux disease and sepsis, and the mediating role of gut bacterial abundance, a Mendelian randomization study.
MedicineUntangling immune cell contributions in the progression from GERD to Barrett's esophagus and esophageal cancer: Insights from genetic causal analysis.
International immunopharmacologyGenetic evidence for amlodipine's protective role in gastroesophageal reflux disease: A focus on CACNB2.
PloS oneExpanding the Gastrointestinal Phenotype of 10p15.3 Microdeletion Syndrome: Refractory Atypical Gastroparesis in an Adult.
CureusHewei 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 panMultifocal neuromuscular hamartoma with smooth muscle and Schwannian components.
BMJ case reportsModifiable factors for irritable bowel syndrome: evidence from Mendelian randomisation approach.
eGastroenterologyThe Dynamic Evolution of Eosinophilic Esophagitis.
Diagnostics (Basel, Switzerland)Histology of the Upper Gastrointestinal Tract, Morphometry and Lymphocyte Subpopulations of the Duodenal Mucosa: Insights from Healthy Individuals.
International journal of molecular sciencesHow do I treat dMMR/MSI gastro-oesophageal adenocarcinoma in 2025? A position paper from the EORTC-GITCG gastro-esophageal task force.
Cancer treatment reviewsCAR-macrophage therapy for HER2-overexpressing advanced solid tumors: a phase 1 trial.
Nature medicinePhase 2 study of futibatinib in patients with gastric or gastroesophageal junction cancer harboring FGFR2 amplifications.
European journal of cancer (Oxford, England : 1990)Novel risk loci encompassing genes influencing STAT3, GPCR, and oxidative stress signaling are associated with co-morbid GERD and COPD.
PLoS geneticsCausal relationship between gastroesophageal reflux disease and chronic obstructive respiratory disease: A bidirectional Mendelian randomization study.
HeliyonGut microbiota, inflammatory cytokines and gastro-esophageal reflux disease: A Mendelian randomization analysis.
MedicineMulti-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 AssociationPhenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams-Beuren Syndrome.
American journal of medical genetics. Part AComprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.
Clinical geneticsDexlansoprazole is an aryl hydrocarbon receptor agonist.
Food and chemical toxicology : an international journal published for the British Industrial Biological Research AssociationIntegrating genetics and transcriptomics to characterize shared mechanisms in digestive diseases and psychiatric disorders.
Communications biologyAssociation between gastroesophageal reflux disease and venous thromboembolism: A Mendelian randomization study.
MedicineSupraglottoplasty 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 SurgeryAssociações
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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
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.
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
📋 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