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Doença genética pancreática
ORPHA:165661DOENÇA RARA

Doença genética pancreática é um grupo de distúrbios hereditários que afetam o pâncreas, levando a problemas como pancreatite crônica e fibrose cística. Pode causar dor abdominal, má absorção de nutrientes e diabetes.

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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 pancreática é uma condição rara que afeta o pâncreas, um órgão importante para a digestão e o controle do açúcar no sangue. Esta página foi criada para oferecer informações claras e confiáveis sobre essa condição, sempre baseadas em fontes científicas oficiais.[1]

Sinais e sintomas

Não há informações disponíveis nas fontes oficiais consultadas sobre os sinais e sintomas específicos da doença genética pancreática. Os sintomas podem variar amplamente entre os pacientes, e é fundamental conversar com um médico especialista para entender o quadro clínico individual.[1]

Causas genéticas

A doença genética pancreática é causada por alterações (mutações) em genes que afetam o funcionamento do pâncreas. No entanto, as fontes oficiais consultadas não especificam quais genes estão envolvidos. A herança genética (como a condição é passada de pais para filhos) e a idade de início dos sintomas também não estão descritas nas fontes disponíveis.[1][2]

Diagnóstico

O diagnóstico da doença genética pancreática é baseado na avaliação clínica realizada por um médico especialista. Não há informações nas fontes oficiais consultadas sobre testes genéticos específicos ou variantes genéticas registradas em bancos de dados como o ClinVar. O diagnóstico pode envolver exames de imagem, testes de função pancreática e aconselhamento genético.[1][2]

Tratamento e manejo

Não há informações nas fontes oficiais consultadas sobre tratamentos ou medicamentos específicos para a doença genética pancreática. O manejo da condição deve ser individualizado e acompanhado por uma equipe médica multidisciplinar, que pode incluir gastroenterologistas, endocrinologistas e geneticistas. O objetivo do tratamento é controlar os sintomas e melhorar a qualidade de vida.[1]

Prognóstico e qualidade de vida

Não há informações nas fontes oficiais consultadas sobre o prognóstico (evolução esperada) da doença genética pancreática. O acompanhamento médico regular é essencial para monitorar a condição e ajustar o plano de cuidados conforme necessário, visando manter a melhor qualidade de vida possível.[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 pancreática é uma categoria médica ampla que reúne diferentes condições hereditárias que podem afetar o pâncreas. Por representar um grupo de doenças e não uma patologia única, os sinais percebidos pela família dependem exclusivamente do quadro específico de cada pessoa. Esta condição não consta na lista oficial de PCDTs de doenças raras do Ministério da Saúde e não tem remédios específicos listados para o grupo geral. O cuidado e o acompanhamento devem ser direcionados pelo diagnóstico exato dentro da rede de atendimento especializado do SUS.

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

Doença genética pancreática é um grupo de distúrbios hereditários que afetam o pâncreas, levando a problemas como pancreatite crônica e fibrose cística. Pode causar dor abdominal, má absorção de nutrientes e diabetes.

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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

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2026195 papers
Linha do tempo
2025Hoje · 2026
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

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Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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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 pancreática

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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

Sex-specific KDM6A-HNF4A-CREBH network controls lipoprotein cholesterol metabolism and atherosclerosis via epigenetic reprograming of hepatocytes.

Nature communications2026 Mar 23

Este estudo identifica o gene KDM6A, ligado ao cromossomo X, como um regulador crucial do metabolismo do colesterol no fígado, explicando diferenças sexuais na saúde cardiovascular. Em mulheres, a diminuição dos níveis de KDM6A desregula o controle do colesterol, resultando em perfis lipoproteicos que aumentam o risco de aterosclerose. Para pacientes e médicos, esta descoberta sugere que disfunções no KDM6A podem ser um fator de risco genético específico para doenças cardiovasculares em mulheres, apontando para a necessidade de investigações e abordagens terapêuticas mais personalizadas baseadas no sexo.

🇧🇷 traduzido
#2

Response to modulator therapy in a cystic fibrosis patient with a single identified CFTR variant not eligible for modulator treatment.

The Turkish journal of pediatrics2026 Feb 27

Este artigo descreve o caso de uma paciente de 9 anos com Fibrose Cística e uma variante rara do gene CFTR (W1282X), que inicialmente não era elegível para terapia com moduladores. Após um mês de tratamento de Elexacaftor/Tezacaftor/Ivacaftor, autofinanciado pela família, a paciente demonstrou melhorias clínicas notáveis, incluindo um aumento de 12% no FEV1 e a normalização dos níveis de cloreto no suor (de 83 para 9 mEq/L). Esses resultados permitiram a aprovação do tratamento contínuo, reforçando a importância de considerar o benefício clínico real para pacientes com variantes raras, mesmo quando as diretrizes iniciais ou estudos preditivos não os incluem.

🇧🇷 traduzido
#3

Efficacy and safety of peptide radionuclide therapy with 177Lu-DOTATATE in Japanese patients with advanced neuroendocrine neoplasm: a multicenter retrospective study (JON2203-N).

Journal of gastroenterology2026 Mar 23

Este estudo multicêntrico japonês confirmou que a terapia com 177Lu-DOTATATE é eficaz e segura para pacientes com neoplasias neuroendócrinas (NENs) avançadas, oferecendo bons resultados de resposta e sobrevida livre de progressão. A terapia mostrou-se particularmente benéfica para NENs do pâncreas e intestino grosso distal (hindgut), proporcionando também melhora significativa nos sintomas hormonais e um perfil de segurança favorável, com baixa incidência de eventos adversos graves.

🇧🇷 traduzido
#4

Liquid biopsy in pancreatic cancer: current advances, limitations, and future perspectives.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver2026 Mar 21

Este artigo destaca que o câncer de pâncreas é frequentemente diagnosticado tardiamente, e as biópsias tradicionais, embora úteis, dificultam a análise molecular crucial. A biópsia líquida surge como uma ferramenta minimamente invasiva, capaz de obter informações moleculares valiosas do sangue, prometendo melhorar significativamente o diagnóstico, o prognóstico e o monitoramento da doença, inclusive a detecção precoce. Embora ainda não validada para uso clínico rotineiro, sua integração multimodal pode em breve transformar as estratégias de manejo para pacientes e médicos.

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#5

ESCRT-Mediated Machinery Directly Drives Cardiac T-Tubule Formation.

Circulation research2026 Mar 20

Doenças cardíacas frequentemente cursam com desorganização dos túbulos T, invaginações da membrana plasmática cruciais para a contração eficaz do coração, resultando em função cardíaca prejudicada e arritmias. Este estudo demonstra que a proteína Chmp4b, parte da maquinaria ESCRT, é essencial tanto para a formação quanto para a manutenção desses túbulos. A sua expressão é significativamente reduzida em pacientes com cardiomiopatia dilatada e em modelos de insuficiência cardíaca, indicando que Chmp4b é um componente chave na saúde cardíaca e um potencial alvo terapêutico para estas condições.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

In Vivo Imaging of the Innate Immune System in the Pancreas in New-Onset and Long-Standing Type 1 Diabetes.

Diabetes, obesity & metabolism
2026

Sex determines the natural killer cell-mediated immunity against pancreatic cancer.

Oncoimmunology
2026

Type 2 Diabetes From the Perspective of Telomere Biology.

Endocrinology, diabetes & metabolism
2026

Sex-specific KDM6A-HNF4A-CREBH network controls lipoprotein cholesterol metabolism and atherosclerosis via epigenetic reprograming of hepatocytes.

Nature communications
2026

Rationale for multi-epitope TGFβ vaccination in pancreatic cancer: evidence from immunologic and clinical correlates.

Signal transduction and targeted therapy
2026

Optic Atrophy in Wolfram Syndrome Type 1: A Retrospective Analysis of Visual Outcomes and Biomarker Correlates.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2026

Targeting PI3Kγ anchoring enhances CFTR membrane localization and modulator efficacy via PKD1.

JCI insight
2026

Synergistic effect of combined hyperthermia and radiotherapy mediated by AQP5 reduction in pancreatic cancer.

International journal of hyperthermia : the official journal of European Society for Hyperthermic Oncology, North American Hyperthermia Group
2026

Development of CpG-Depleted CFTR Plasmid-Based Nanoparticles for Nonviral Gene Therapy in Lung Cystic Fibrosis Disease.

The journal of gene medicine
2026

Diagnostic Value of Next-Generation Sequencing (NGS) and Microarray in Characterizing Tumor Origin: A Challenging and Educational Case.

The American journal of case reports
2026

Efficacy and safety of peptide radionuclide therapy with 177Lu-DOTATATE in Japanese patients with advanced neuroendocrine neoplasm: a multicenter retrospective study (JON2203-N).

Journal of gastroenterology
2026

Liquid biopsy in pancreatic cancer: current advances, limitations, and future perspectives.

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

A retrospective analysis of risk-reducing salpingo-oophorectomy performed in women diagnosed with hereditary breast and ovarian cancer at our institution.

Hereditary cancer in clinical practice
2026

Epigenetic regulation in a high-sugar environment (Review).

International journal of molecular medicine
2026

Crosstalk between KRAS and miRNAs in pancreatic cancer: Opportunities for its diagnosis, prognosis and therapeutic intervention (Review).

International journal of oncology
2026

ESCRT-Mediated Machinery Directly Drives Cardiac T-Tubule Formation.

Circulation research
2026

Peripheral amylin modulation rebalances brain glycolysis and Tau-Ser214 phosphorylation via cAMP-PKA signaling.

iScience
2026

Co-cultivation Serratia marcescens with Trichoderma harzianum for improving production of Huperzine A.

Applied microbiology and biotechnology
2026

SHR-A1811, a novel HER2-targeting antibody-drug conjugate, in advanced solid tumors (HORIZON-X): a global phase 1 trial.

Signal transduction and targeted therapy
2026

RARRES1 marks an immune-cold, chemoresistance-associated malignant epithelial subpopulation enriched in pancreatic ductal adenocarcinoma.

Cancer immunology, immunotherapy : CII
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Effect of Diosmetin on Gut Microbiota and Serum Metabolites in Acute Pancreatitis Mice: A Metagenomic and Metabolomic Study.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2025

Pancreatic PEComa: Case Report of an Extremely Rare Tumor.

Archives of Iranian medicine
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Ganglioside-Mediated Neural-Acinar Crosstalk Facilitates Pancreatic Carcinogenesis via Metaplastic Niche Remodeling.

Gastroenterology
2026

Predicting recurrence in patients with node-negative perihilar cholangiocarcinoma after an R0 resection.

European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology
2026

The role of mesencephalic astrocyte-derived neurotrophic factor in digestive diseases.

Annals of medicine
2026

KLF5 controls subtype-independent highly interactive enhancers in pancreatic cancer to regulate cell survival.

Science advances
2026

Factors affecting compliance with pancreas surveillance in patients with familial/genetic risk.

Familial cancer
2026

Plasma metabolite association profiles for type 2 diabetes genetic clusters in Finnish men.

Diabetologia
2026

Hydroxyl radical footprinting modification reveals an intradomain communication pathway in EFL1 disrupted by a Shwachman-Diamond syndrome-associated mutation.

Protein science : a publication of the Protein Society
2026

DNA Origami Nanotechnology in Aging-Related Degenerative Diseases: Current Advances and Future Directions.

ACS applied materials & interfaces
2026

Global Collaboration in Cystic Fibrosis: Lessons From the COVID-19 Pandemic for Low- and Middle-Income Countries.

Pediatric pulmonology
2026

Interkingdom signaling elicited by bacterial extracellular vesicles in human cystic fibrosis airway epithelium and neutrophils.

Frontiers in cellular and infection microbiology
2025

Evaluation of Metastasis-Associated Lung Adenocarcinoma Transcript 1 (MALAT 1) and H19 in Determining the Diagnosis and Severity of the Disease in Patients with Acute Pancreatitis.

The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology
2026

Potential of SERINC2 as a biomarker in tumor prognosis and immunology: analysis from pan-cancer studies.

Yi chuan = Hereditas
2026

Gut microbiome in type 2 diabetes: insights from metagenomics, multi-omics, and diet-microbe interactions.

Gut microbes
2026

Evaluation of ATP12A and NFKBIZ as potential markers of inflammatory status in cystic fibrosis airway epithelial cells.

Inflammation research : official journal of the European Histamine Research Society ... [et al.]
2026

The multifaceted roles of the ACSL family in cancer: Metabolic reprogramming, ferroptosis regulation and tumour immune microenvironment remodelling.

Clinical and translational medicine
2026

Advancements in Sweat Testing Techniques for Cystic Fibrosis: From Classical to Novel Methods.

Pediatric pulmonology
2026

Targeting MUC16 suppresses malignant progression and chemoresistance in large-duct type intrahepatic cholangiocarcinoma.

Cancer letters
2026

Structural insight into the CUB2 domain's role in enteropeptidase-mediated trypsinogen activation.

Proceedings of the National Academy of Sciences of the United States of America
2026

Nrf3: an emerging player in cancer, inflammation, and cellular homeostasis.

Molecular biology reports
2026

Spatial heterogeneity of antibody-drug conjugate targets in pancreatic ductal adenocarcinoma.

The journal of pathology. Clinical research
2026

Precision management of medullary thyroid carcinoma: a dynamic framework integrating biomarkers, genotyping, and risk stratification.

Frontiers in endocrinology
2026

Obstructive jaundice induced by postoperative intra-cystic infection with polycystic liver disease: a rare case report and literature review.

International journal of surgery case reports
2026

The deubiquitinase USP28 promotes esophageal squamous cell carcinoma proliferation by stabilizing ΔNp63 protein.

Cellular signalling
2026

Unraveling the Link Between Azathioprine and Acute Pancreatitis: Integrating Network Toxicology, Machine Learning, and Mendelian Randomization.

CPT: pharmacometrics & systems pharmacology
2026

Current State of Clinical Care of People With Cystic Fibrosis.

Pharmacotherapy
2026

Building a diagnostic scoring system for high-grade neuroendocrine neoplasms of the pancreas.

American journal of clinical pathology
2026

Transcription Factors in Type 2 Diabetes: Molecular Mechanisms of Insulin Resistance and β-Cell Dysfunction.

Current diabetes reviews
2026

Prevalence of Overweight and Obesity in the Era of CFTR Modulators in Patients with Cystic Fibrosis.

Nutrients
2026

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

International journal of molecular sciences
2026

Diagnostic Value of miR-21, miR-122, miR-145, and miR-146a in Acute Pancreatitis: Findings from the PASEVO Cohort in Southeastern Romania.

International journal of molecular sciences
2026

Immune Cell-Specific and Isoform-Selective Regulation of CD44 in Pancreatic Ductal Adenocarcinoma Links Lymph Node Variant Loss and Exosomal CD44 to Clinical Outcome in Pancreatic Ductal Adenocarcinoma.

Cells
2026

Targeting Prolyl 3-hydroxylase 1 inhibits pancreatic cancer progression and macrophage immunity.

Nature communications
2026

Epigenetic effects of alcohol consumption on type 2 diabetes.

Alcohol (Fayetteville, N.Y.)
2026

Deciphering casual association between brain structure and liver cirrhosis: Insights from Mendelian randomization.

Medicine
2026

Mapping Genetic Regulation of Transcription to Identify Functional Variants and Genes Associated with Pancreatic Cancer Risk.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2026

Clinical signs, management, and survival of 278 dogs diagnosed with insulinoma under primary veterinary care in the United Kingdom.

Journal of veterinary internal medicine
2026

Roles of ubiquitin‑specific peptidase 22 in cellular fate: From embryonic survival to tissue repair, inflammation and metabolism (Review).

International journal of molecular medicine
2026

Role of small intronic RNAs in the crosstalk between immune cells and β-cells during type 1 diabetes development.

RNA biology
2026

Super-enhancer-associated miR-1260b coordinates adipogenesis and metabolic programming in human adipose stem cells.

Adipocyte
2026

Integrative Bioinformatic Identification and Molecular Docking of Quercetin and Sulforaphane-Associated Prognostic Targets in Pancreatic Adenocarcinoma.

Chemistry & biodiversity
2026

An international consensus on screening and monitoring early-stage type 1 diabetes: A roadmap to European implementation.

Diabetes, obesity & metabolism
2026

Zinc finger protein 598 promotes HIV-1 replication and latent reactivation by stabilizing the expression of viral trans-activator of transcription Tat.

International journal of biological macromolecules
2026

KRAShing pancreatic cancer before takeoff.

Science (New York, N.Y.)
2026

Cancer interception with KRAS inhibitors in preclinical models of pancreatic ductal adenocarcinoma.

Science (New York, N.Y.)
2026

A CD138+ tumor-associated macrophage-Siglec-F+ neutrophil feedforward loop promotes immune evasion in pancreatic cancer.

The Journal of clinical investigation
2026

USP7 facilitates brain tumor survival upon glucose deprivation by regulating phosphofructokinase muscle-type nuclear translocation in mice.

PLoS biology
2026

Tissue Factor as a Prognostic and Therapeutic Biomarker in Resected Pancreatic Cancer.

Annals of surgical oncology
2026

Cancer Risk in Solid Organ Transplant Recipients With a Pretransplant Cancer History.

JAMA oncology
2026

Hypochloremic Hypokalemic Metabolic Alkalosis as a Manifestation of CFTR-Related Disorder.

Pediatric pulmonology
2026

Metastatic Pancreatic Adenocarcinoma with Germline BLM and Somatic ATM Mutations: A Case Report and Review of DNA Damage Response.

Annals of case reports
2026

[Evolution of thoracic computed tomography after therapy with elexacaftor, tezacaftor, and ivacaftor in patients with cystic fibrosis].

Revue medicale de Liege
2026

Structural mining and engineering of metagenome-derived Cas12a orthologs expands the CRISPR genome editing and multiplex diagnostics toolkit.

Molecular therapy : the journal of the American Society of Gene Therapy
2026

GALNT3 Inhibits the Progression of Cerebral Ischemia-Reperfusion Injury by Stabilizing TREM2 via O-GalNAc Glycosylation.

CNS neuroscience & therapeutics
2026

The SGLT2 Inhibitor Canagliflozin Promotes β-Cell Regeneration and Restores and Stabilises β-Cell Identity in a Polygenic Model of Severe Early-Onset Type 2 Diabetes.

Journal of cellular and molecular medicine
2026

CRISPR-Cas9 genome editing in the parental iPSC line PCIi033-A to introduce the homozygous mutation p.F508del (c.1521_1523del) in the CFTR gene.

Stem cell research
2026

Knockdown of Lymphoid Enhancer-binding Factor 1 Inhibits Pancreatic Adenocarcinoma Growth and Neoangiogenesis by Curbing Notch1 and Nuclear Factor Kappa B Signaling Pathways.

Pancreas
2026

The Transcription Factor TFAP2A Induces M2 Macrophage Polarization by Upregulating EPS8L3 Expression, Thereby Accelerating the Malignant Progression of Pancreatic Ductal Adenocarcinoma.

Pancreas
2026

Quality control strategy for differentiating induced pluripotent stem cells into pancreatic β-cells before transplantation.

Regenerative medicine
2026

Advances in non-invasive biomarkers for pediatric inflammatory bowel disease diagnosis.

World journal of gastroenterology
2026

Decoding liver injury in cystic fibrosis: How to tell drug-induced liver injury from cystic fibrosis liver disease.

World journal of gastroenterology
2026

Development and validation of a high-confidence diagnostic model integrating ctDNA methylation and serum biomarkers for early-stage hepatocellular carcinoma detection.

Molecular biomedicine
2026

AGPAT3 reshapes tumor cell vulnerability to IFNγ-mediated ferroptosis and enhances immunotherapy efficacy through lipid remodeling.

Journal for immunotherapy of cancer
2026

CFTR Modulators in Brazil: Not for Everyone-A Comparison of Ineligibility Across Different Regions.

Pediatric pulmonology
2026

Protein-level profiling of TIGIT axis components in human PDAC reveals immune-suppressive expression patterns.

Cancer immunology, immunotherapy : CII
2026

A MUC1-ALIX complex regulates extracellular vesicle cargo loading with activated SRC to enhance pancreatic cancer progression.

Cancer letters
2026

Interaction between m6A and YAP1 mechanotransduction pathways is essential for mechanical memory and matrix remodeling in pancreatic cancer.

International journal of biological sciences
2026

Neutrophil extracellular traps prime the ZBP1-cGAS sensor complex, triggering necroptosis and inflammatory injury in acute pancreatitis.

International journal of biological sciences
2026

S100A14 Facilitates Pancreatic Cancer Progression via S100A16-Mediated p53 Suppression.

Oncology research
2026

OSBPL3-driven sterol metabolic reprogramming promotes oncogenic signaling and therapeutic resistance in pancreatic cancer.

Theranostics
2026

Determinants of pancreatic tropism in metastatic renal cell carcinoma.

JCI insight
2026

Disparities in Access to Cystic Fibrosis Therapy Across Countries.

Pediatric pulmonology
2026

Treatment of metastatic pancreatic cancer with concurrent BRAF V600E mutation and germline BRCA2 mutation: a case report.

Chinese clinical oncology
2026

KRAS-elicited PDIA6 blocks PERK-dependent immunogenic cell death in pancreatic carcinoma.

Oncoimmunology
2026

Double trouble: When focal and diffuse hyperinsulinism occur simultaneously.

Hormone research in paediatrics
2026

MLPA-Detected CFTR Exon Deletions in Children With Inconclusive CFTR Sequencing: A Single-Center Experience From Türkiye.

Pediatric pulmonology
2026

Molecular taxonomy of pancreatic neuroendocrine tumors reveals BEND2-fusions-driven transcriptional plasticity and therapeutic vulnerabilities.

Cell reports. Medicine
2026

Clinical development of molecular residual disease (MRD) and multi-cancer early detection (MCED) using liquid biopsy multiomics with artificial intelligence (AI).

International journal of clinical oncology
2026

Integrative Molecular Analysis to Predict Clinical Benefit of Everolimus in Patients With Gastro-Entero-Pancreatic Neuroendocrine Tumors (GEP-NETs).

Cancer control : journal of the Moffitt Cancer Center
2026

[Expression of Concern] c‑Fos/ERK promotes the progression from pancreatic intraepithelial neoplasia to pancreatic ductal adenocarcinoma.

Oncology reports
2026

Role of iron and TfR1 in the application of high‑dose ascorbate against pancreatic cancer.

Oncology reports
2026

Pancreatic cancer EMT‑targeted therapy: Molecular mechanisms and clinical translation (Review).

International journal of oncology
2026

Urinary System Involvement in Children With Cystic Fibrosis: A Single-Center Retrospective Cohort.

Pediatric pulmonology
2026

High versus gradually increasing energy nutrition in the early phase of acute pancreatitis (GOULASH): a multicentre double-blind randomised clinical trial.

Gut
2026

Targeting ACSS2 disrupts metabolic-epigenetic crosstalk to restore apoptosis and temozolomide chemosensitivity in pancreatic neuroendocrine tumors.

Cancer letters
2026

Senkyunolide I inhibits abdominal aortic aneurysm via PARP-1-targeted restraint of large peritoneal macrophage migration.

International immunopharmacology
2026

Impact of Germline BRCA Mutation Status on Antitumor Activity of Modified FOLFIRINOX in Patients With Advanced Pancreatic Cancer: An Exploratory Analysis.

JCO precision oncology
2026

Pseudomonas aeruginosa gene expression changes during established biofilm infection in a cystic fibrosis lung model.

Microbiology (Reading, England)
2026

Mitochondria-associated programmed cell death in pancreatic β cell of T2DM.

Apoptosis : an international journal on programmed cell death
2026

Nucleosome spacing across cell types, diseases, and ages.

Nucleic acids research
2026

A STING signaling relay from tumor cells to macrophages mediates the improved efficacy of combination chemotherapy in pancreatic cancer.

Journal of biomedical science
2026

Cystic fibrosis year in review 2025.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
2026

Epigenetically regulated pancreatic GABA-somatostatin signaling underlies gestational diabetes-induced glucose intolerance in offspring.

Science translational medicine
2026

Histone demethylase JMJD1A protects mice from enteric bacterial infection by upregulating CCL8 expression to recruit macrophages and CD4+ T cells.

PLoS pathogens
2026

MondoA mediates transcriptional coordination between the MYC network and the integrated stress response in pancreatic cancer.

Proceedings of the National Academy of Sciences of the United States of America
2025

Guidelines for endoscopic treatment of postinflammatory pancreatic and peripancreatic fluid collections. Recommendations of the Endoscopic Surgery Section of the Association of Polish Surgeons, the Endoscopy Section of the Polish Society of Gastroenterology, the Polish Pancreatic Club, the Laparoscopic and Robotic Surgery Section of the Association of Polish Surgeons, and the Pancreatic Surgery Section of the Association of Polish Surgeons; formulated by an expert panel led by Prof. Mateusz Jagielski, MD, PhD.

Wideochirurgia i inne techniki maloinwazyjne = Videosurgery and other miniinvasive techniques
2026

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

LINC00963 Targets miR-495-3p to Regulate Pancreatic Cancer Cell Proliferation, Apoptosis, and Carboplatin Sensitivity.

Nigerian journal of clinical practice
2026

The TRIB1-PPARγ Axis Regulates Cholesterol Metabolism in Pancreatic Ductal Adenocarcinoma.

Annals of the New York Academy of Sciences
2026

A Narrative Review of Gene-Environment Interactions in Pediatric Pulmonology.

Pediatric pulmonology
2026

Harm reduction in paediatric off-label therapy: ethical analysis of early CFTR modulator use in an infant with cystic fibrosis.

Journal of medical ethics
2026

Unraveling pancreatic ductal adenocarcinoma at single-cell resolution with spatial insights: From mechanisms to clinical translation.

Cancer letters
2026

Phage isolation and functional characterization reveal strong antibiofilm activity against Pseudomonas aeruginosa in a cystic fibrosis sputum model.

Frontiers in cellular and infection microbiology
2026

Bilateral multifocal renal neuroendocrine carcinoma with synchronous pancreatic neuroendocrine carcinoma and adrenal lesion.

Journal of surgical case reports
2026

Genotype-phenotype correlations of fasting C-peptide and lipids in HNF1A-MODY: a single-center series and multi-center cross-sectional analysis in Chinese population.

Frontiers in endocrinology
2026

Correlation between PD-L1 expression and clinical pathology, immunobiological markers, and prognosis in gastroenteropancreatic neuroendocrine neoplasms: a systematic review and meta-analysis.

Frontiers in immunology
2026

Spatial transcriptomics reveals the mechanistic role of lactate metabolism in the pancreatic ductal adenocarcinoma microenvironment.

Frontiers in immunology
2026

Macrophage-rich niches regulate T cell dynamics at the liver invasive margin during gallbladder cancer progression.

The Journal of clinical investigation
2026

[MUC1 and SIGIRR as Negative Regulators of TLR Signaling: Expression, Function, and Anti-inflammatory Augmentation].

Yakugaku zasshi : Journal of the Pharmaceutical Society of Japan
2026

Effect of vanzacaftor/tezacaftor/ivacaftor on cystic fibrosis nasal epithelial cells and intestinal organoids compared to elexacaftor/tezacaftor/ivacaftor.

Respiratory medicine
2026

Islet-derived T cells from both mice and humans recognize conserved insulin A-chain peptides presented by HLA-C*03:04.

Journal of immunology (Baltimore, Md. : 1950)
2026

[Hearing impairment in children with cystic fibrosis].

Vestnik otorinolaringologii
2026

In Utero CFTR Modulator Therapy in Fetuses With Cystic Fibrosis.

NeoReviews
2026

PPARδ: An underappreciated tumor accelerator in pancreatic ductal adenocarcinoma.

Cancer letters
2026

Genetic strategies for negative or variant of uncertain significance findings in exome sequencing in hereditary bronchiectasis: a case series.

Therapeutic advances in respiratory disease
2026

Biomarker-directed aptamer panels for diagnosis and differentiation of neuroendocrine tumors.

Journal of neuroendocrinology
2026

Metabolic syndrome necroptosis: disease implications and therapeutic targeting.

Journal of physiology and biochemistry
2026

Large variations in total and allele-specific transcript expression in a disease mutation-independent manner.

Scientific reports
2026

Beta cell-derived cholecystokinin drives obesity-associated pancreatic adenocarcinoma development.

Nature communications
2026

Multiple endocrine neoplasia with an atypical clinical course and a MEN1 gene variant of uncertain pathogenicity: A case report.

Medicine
2026

The causal association between plasma amino acid levels and abdominal aortic aneurysm: insights from Mendelian randomization and an experimental validation.

European journal of pharmacology
2026

Prognostic Impact of Metastatic Sites in Patients with Biliary Tract Cancer Treated with Cisplatin, Gemcitabine, and Durvalumab.

Targeted oncology
2026

Challenges and Practical Solutions in the Management of Cystic Fibrosis in Resource-Limited Countries: The Indian Experience.

Pediatric pulmonology
2026

pH-Dependent Microenvironmental Ionic Signaling in Pancreatic Ductal Adenocarcinoma.

Acta physiologica (Oxford, England)
2026

Clinical Impact of Semaglutide Beyond Glycemic Control: A Critical Analysis of Oncogenic Potential and Mitigation of Cardiotoxicity.

Pharmaceuticals (Basel, Switzerland)
2026

Pattern of HER2 and HER3 Overexpression in Patients with Pancreatic Ductal Adenocarcinoma.

Medicina (Kaunas, Lithuania)
2026

Research Progress on the Biological Function, Disease-Driving Mechanism and Clinical Targeting Strategies of G3BP2.

Molecules (Basel, Switzerland)
2026

Functional Foods as Modulators of Epigenetic Mechanisms Affecting Metabolic Health in Adolescence.

International journal of molecular sciences
2026

Selenium-Thioredoxin Axis Contributes to Ferroptosis Resistance in Pancreatic Cancer Cells.

International journal of molecular sciences
2026

Restoration of Defective CFTR in Human Nasal Respiratory Epithelial Cells by CFTR Modulators and mRNA Transfection.

International journal of molecular sciences
2026

A DNA Vaccine Incorporating the MHC Class I Trafficking Domain and PADRE Epitope Enhances Antitumor Immunity in a Murine Pancreatic Cancer Model.

International journal of molecular sciences
2026

Sleep-Disordered Breathing in Chung-Jansen Syndrome.

International journal of molecular sciences
2026

Review Article: Overview of Clinical Genetics of Diabetes Mellitus.

Genes
2026

UBE3A-mediated mH2A1 Ubiquitination activates TERT transcription to promote senescence resistance in pancreatic cancer.

Cell death & disease
2026

Unveiling the hidden genetic conundrum linking pulmonary diseases and neuropsychiatric disorders: Novel insights from advanced omics-based analyses of the lung-brain axis.

Neurobiology of disease
2026

Acute pancreatitis as a severe complication of scoliosis surgery in pediatric patient: a case report and literature review.

Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego
2026

Hypertriglyceridaemia-Associated Acute Pancreatitis: Risk Stratification, Drivers, and Prevention of Recurrence.

Diseases (Basel, Switzerland)
2026

A Case of Ovarian Primary Solid Pseudopapillary Neoplasm With Multiple Organ Metastases.

International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists
2026

Advancing Gene Therapy for Pancreatitis: From Genetic Insights to Clinical Translation.

Research (Washington, D.C.)
2026

A disease model resource reveals core principles of tissue-specific cancer evolution.

Nature
2026

SEL1L-HRD1 ER-associated degradation facilitates prohormone convertase 2 maturation and glucagon production in islet α cells.

Nature communications
2026

MUC15 loss promotes perineural invasion in pancreatic cancer by activating the IGF1R/STAT3/NGF pathway.

Cancer letters
2026

Risk-stratified surveillance for individuals in the UK at high risk of developing pancreatic cancer: Outcomes from the European Registry of Hereditary Pancreatic Diseases (EUROPAC).

European journal of cancer (Oxford, England : 1990)
2026

Dual calcium-ACE inhibition reverses non alcoholic fatty pancreas progression: Mechanistic convergence on miR-762/GPX4 driven NLRP3 inflammasome activation.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
2026

Commentary on "Comparative efficacy and safety of PSCA CAR-engineered Vδ1 γδ T cells for immunotherapy of pancreatic cancer".

Journal for immunotherapy of cancer
2026

Contribution of two-component regulatory systems to the acute-to-chronic infection transition of Pseudomonas aeruginosa in cystic fibrosis.

Journal of bacteriology
2026

Role of lipid rafts in the FGFR2c-mediated oncogenic signaling by involvement of TRPA1 channel in pancreatic ductal adenocarcinoma cells.

Cell death & disease
2026

[A specific situation: the genetic pancreatitis].

La Revue du praticien
2026

[Etiological work-up for chronic pancreatitis].

La Revue du praticien
2026

[Definition, diagnosis and differential diagnostics of chronic pancreatitis].

La Revue du praticien
2026

Exploring dietary habits strongly associated with pancreatic cancer from the perspective of Mendelian randomization.

Medicine
2026

Treating Pancreatic Ductal Adenocarcinoma: The Targeted Revolution is Here.

Drugs
2026

Genetic regulation across germline and somatic variation on the Y chromosome contributes to type 2 diabetes.

Nature medicine
2026

Multianimal Magnetic Resonance Imaging for Tumor Measurements in Pancreatic Cancer Mouse Models.

Journal of visualized experiments : JoVE
2026

When One Gland Speaks First: Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1) Unmasked by Isolated Hypoparathyroidism.

Cureus
2026

A plasma-based DNA test for quantification of disease burden in acute myeloid leukemia patients undergoing bone marrow transplantation.

medRxiv : the preprint server for health sciences
2025

[Bisalbuminemia: a report of three cases collected at the biochemistry laboratory of Mohammed VI University Hospital in Oujda, Morocco, and a literature review].

The Pan African medical journal
2026

Comprehensive analysis of mitochondrial unfolded protein response related genes for prognosis and therapeutic response in pancreatic cancer.

Frontiers in immunology
2026

Multi-scale systems toxicology defines a KLF5-centered adverse outcome pathway linking DEHP exposure to pancreatic cancer progression and signaling programs relevant to therapy tolerance.

Frontiers in cell and developmental biology
2026

Molecular classification and prognosis study of pancreatic ductal adenocarcinoma through multi-omics integrated clustering analysis.

PeerJ
2026

Soluble LAG-3 Identifies a Dynamic Early T Cell Activation Window in self-reactivity, Type 1 Diabetes, and Broader Immune Responses.

bioRxiv : the preprint server for biology
2026

Respiratory Oscillometry and Multimodal Lung Function Assessment of Elexacaftor/Tezacaftor/Ivacaftor Response in Children and Young Adults With Cystic Fibrosis.

Pediatric pulmonology
2026

BiGCN Learns B Cell Functional States by Integrating Single-Cell Transcriptomes and BCR Repertoires.

Small methods
2026

Integrative Transcriptomic and Proteomic Profiling Defines Secretory and Immune Related Subtypes in Pancreatic Ductal Adenocarcinoma.

Journal of proteome research
2026

Changes in the 6th edition of the World Health Organization classification of tumours of the digestive system.

Histopathology
2026

Cystic lesions and their role in pancreatic cancer risk stratification.

Translational oncology
2026

α-ketoglutarate/succinate ratio imbalance impairs thymine DNA glycosylase function and base excision repair process increasing susceptibility to pancreatic cancer.

Cell death & disease
2026

Targeting mitochondrial phosphatase PGAM5 alleviates ferroptosis and acute pancreatitis by upregulating NRF2-mediated FSP1 expression.

Cell death & disease
2026

MIF-CD74 axis facilitates MDSC infiltration in the tumor microenvironment of pancreatic ductal adenocarcinoma.

Cancer letters
2026

Identification of circulating microRNA signature in pancreatic ductal adenocarcinoma and chronic pancreatitis patients from Indian population.

Gene
2026

ETS1 potentiates pancreatic Pyroptosis in mice with acute pancreatitis by regulating the NKIRAS1/NF-κB Axis.

International immunopharmacology
2026

FGTI-2734 prevents ERK-mediated resistance and enhances MRTX1133 efficacy in KRAS G12D pancreatic cancer.

European journal of cancer (Oxford, England : 1990)
2026

Aerobic training and cannabidiol activate the PI3K/AKT/PDX1 axis to ameliorate beta-cell dysfunction in a rat model of diet-induced obesity.

Molecular biology reports
2026

Anticancer effect of palmitoyl piperidinopiperidine against human pancreatic ductal adenocarcinoma cells.

Cancer genetics
2026

Evidence that extra copies of chromosome 1q play a role in the early phases of pancreatic neoplasia.

Science advances
2026

KRASG12V/HLA-A*02:01-targeted chimeric antigen receptor T cells exhibit potent preclinical activity against solid tumors.

Science advances
2025

Contrasted modifications of IgM and IgT repertoires induced by high- and low-virulent infectious pancreatic necrosis virus strains in rainbow trout (Oncorhynchus mykiss).

Frontiers in immunology
2026

Single-cell and spatial transcriptomics reveal transplant-associated T cells and myeloid cells in human liver transplantation.

Frontiers in immunology

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

Significa apresentar uma condição de origem hereditária ou genética que acomete a estrutura ou as funções do pâncreas. Como este é um termo genérico, é preciso identificar o diagnóstico específico para compreender os impactos exatos em cada paciente.

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. Liquid biopsy in pancreatic cancer: current advances, limitations, and future perspectives.
    Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver2026PMID 41866258
  3. Q55785598
    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 pancreática. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/doenca-genetica-pancreatica

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 pancreática

ORPHA:165661 · MONDO:0015618
MedGen
UMLS
C5680436
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