Doença genética intestinal é um grupo de distúrbios raros que afetam o desenvolvimento, função ou absorção do intestino devido a mutações genéticas. Manifesta-se com sintomas variados, como diarreia crônica, má absorção e falência intestinal.
Introdução
O que você precisa saber de cara
Visão geral
A doença genética intestinal (em inglês, "Genetic intestinal disease") é classificada na ontologia de doenças raras sob o identificador MONDO:0015616.[1]
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
O termo **doença genética intestinal** é uma categoria médica do catálogo Orphanet que abrange diferentes condições hereditárias do trato digestivo. Como se trata de um grupo amplo, os sintomas específicos e as formas de manifestação clínica dependem da doença exata que afeta a pessoa. Esta classificação geral não consta na lista oficial de Protocolos Clínicos e Diretrizes Terapêuticas (PCDT) de doenças raras do Ministério da Saúde. O acompanhamento e o tratamento devem ser individualizados e organizados na rede de saúde de acordo com a condição específica identificada.
Doença genética intestinal é um grupo de distúrbios raros que afetam o desenvolvimento, função ou absorção do intestino devido a mutações genéticas. Manifesta-se com sintomas variados, como diarreia crônica, má absorção e falência intestinal.
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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
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Genética e causas
O que está alterado no DNA e como passa nas famílias
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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 intestinal
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
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Early intestinal barrier changes in A53T transgenic Parkinson's disease mice.
Este estudo em um modelo de camundongo da doença de Parkinson (DP) revelou que a disfunção da barreira intestinal ("intestino permeável") e alterações morfológicas ocorrem precocemente, muito antes do surgimento dos sintomas motores e sem inflamação significativa. Para pacientes e médicos, isso é crucial porque sugere que o intestino é um local inicial da patologia na DP e, portanto, representa um alvo terapêutico promissor para intervenções precoces, potencialmente antes mesmo do início dos sintomas neurológicos.
🇧🇷 traduzidoMultiomic characterisation of the clinical efficacy of guselkumab induction therapy in ulcerative colitis.
Este estudo sobre o guselkumab para colite ulcerosa (CU) ativa demonstrou que o tratamento reduz rapidamente proteínas inflamatórias no soro e, em nível molecular, altera vias genéticas pró-inflamatórias enquanto promove a reparação do tecido intestinal. Essas mudanças levam à diminuição de células inflamatórias e ao aumento de células mucosas, estando diretamente associadas a uma significativa melhora histológica e endoscópica da mucosa (HEMI) na semana 12, um indicador crucial de cicatrização e eficácia clínica.
🇧🇷 traduzidoPrimary sclerosing cholangitis.
A Colangite Esclerosante Primária (CEP) é uma doença hepática crônica e rara que causa inflamação e fibrose nos ductos biliares, progredindo lentamente para cirrose e, frequentemente, necessitando de transplante de fígado. É notável sua forte associação com a doença inflamatória intestinal (DII) e o aumento do risco de cânceres hepato-biliares e colorretais, com opções de tratamento limitadas e causas ainda pouco claras. No entanto, fatores genéticos e o microbioma intestinal são considerados cruciais para seu desenvolvimento e progressão, sendo um foco importante para pacientes e médicos na compreensão da doença.
🇧🇷 traduzidoDeterminants of the healthy gut microbiome: core features, modifying factors and normal functions.
O microbioma intestinal é crucial para a saúde, mas definir um perfil "saudável" é complexo, pois não existe um padrão fixo; sua composição varia significativamente entre indivíduos devido a fatores como dieta, estilo de vida e genética. No entanto, ele desempenha funções essenciais em múltiplos sistemas do corpo, incluindo digestão de fibras, regulação imune e manutenção da barreira intestinal. Para médicos e pacientes, é fundamental entender que um microbioma saudável é um ecossistema dinâmico e resiliente, não uma lista específica de microrganismos.
🇧🇷 traduzidoStructural basis for prostaglandin and drug transport via SLCO2A1.
Este estudo desvenda a estrutura molecular da proteína SLCO2A1, crucial para o transporte de prostaglandinas (substâncias envolvidas na inflamação) e de vários medicamentos amplamente utilizados, como anti-inflamatórios e tratamentos para asma e Parkinson. Para pacientes e médicos, essa descoberta é fundamental pois elucida como os fármacos são absorvidos, distribuídos e eliminados no corpo. Compreender melhor esses mecanismos pode otimizar tratamentos, reduzir efeitos colaterais e guiar o desenvolvimento de novos medicamentos.
🇧🇷 traduzidoPublicações recentes
Molecular Pathogenesis of Colitis-associated Colorectal Cancer: Immunity, Genetics, and Intestinal Microecology.
Transit-amplifying cells control R-spondins in the mouse crypt to modulate intestinal stem cell proliferation.
Silymarin, boswellic acid and curcumin enriched dietetic formulation reduces the growth of inherited intestinal polyps in an animal model.
Determination of the Potential Tumor-Suppressive Effects of Gsdme in a Chemically Induced and in a Genetically Modified Intestinal Cancer Mouse Model.
Functional Characterization of Colon Cancer-Associated Mutations in ADAM17: Modifications in the Pro-Domain Interfere with Trafficking and Maturation.
📚 EuropePMCmostrando 200
NUPR1 and LCN2: Potential Therapeutic Targets for Colorectal Cancer Via Modulating Cell Viability, Migration, and Ferroptosis-Related Pathways.
Journal of biochemical and molecular toxicologyAppendiceal Goblet Cell Adenocarcinoma With Mismatch Repair Deficiency and Microsatellite Instability-High Status: A Novel Molecular Signature Guiding Immuno-Oncology Strategy.
Pathology internationalEarly intestinal barrier changes in A53T transgenic Parkinson's disease mice.
Cell and tissue researchDietary inflammatory index and objective disease activity in IBD: no association found.
European journal of clinical nutritionMultiomic characterisation of the clinical efficacy of guselkumab induction therapy in ulcerative colitis.
BMJ open gastroenterologyPrimary sclerosing cholangitis.
Lancet (London, England)Dietary palmitic acid inhibits colorectal cancer progression through enhancing bisecting GlcNAc.
JCI insightPsoriasis: microbiome dysbiosis and pathogenic mechanisms.
Frontiers in immunologyDeterminants of the healthy gut microbiome: core features, modifying factors and normal functions.
Annals of gastroenterologyCirculating Butyrate Attenuates Cetuximab Efficacy in Colorectal Cancer Through EGFR and AMPK-Wip1 Signaling.
Drug design, development and therapyPsychosocial factors and the risk of cancer: An individual-participant data meta-analysis.
CancerSingle-cell RNA sequencing reveals the characteristics of porcine viral diseases, development, and immune repertoires: Current status and challenges.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseasesAdaptive VP1 sites 93 and 97 modulate antigenic evolution and receptor binding of Senecavirus A: Phylogenetic analysis and validation with recombinant viruses.
Veterinary microbiologyFAM118B Promotes Colorectal Carcinogenesis Through a Novel Mechanism Involving Enhanced RelA Transactivation and Subsequent SELENOF-Dependent Glycolytic Activity.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyStructural basis for prostaglandin and drug transport via SLCO2A1.
Nature communicationsGenetic evidence for a causal protective effect of GLP-1 receptor agonists on paralytic ileus but not on other gastrointestinal events.
MedicineCaspase-3/7 deficiency results in enhanced intestinal inflammation and reduced tumorigenesis.
Science advancesThe roles and heterogeneity of CD8+ T cells in inflammatory bowel disease: A narrative review of insights from single‑cell transcriptomics (Review).
International journal of molecular medicineColonic biopsy-associated microbial signatures are predictive of response to anti-TNFα biological therapy in Crohn's disease.
Frontiers in cellular and infection microbiologyCurrent and emerging approaches to manage chronic inflammatory gut disorders.
Frontiers in cellular and infection microbiologyT cell and cytokine signatures as early predictors of response to IL-12/IL-23 inhibition in Crohn's disease.
Frontiers in immunologyTumor-Infiltrating Immune Cells Are More Abundant in Lung Metastases From Colorectal Cancer Than in Paired Primary Tumors and Their Prognostic Value Depends on Adjuvant Chemotherapy.
Cancer medicineDistinct phenotype of primary sclerosing cholangitis-associated inflammatory bowel disease.
Journal of gastroenterology[Study on the characteristics and differences of intestinal microbiota in children with allergic diseases].
Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]Extrinsic lipids are absorbed and accumulate in colorectal cancer.
GutAmylase/trypsin inhibitors (ATIs) levels in wheat event IND-ØØ412-7 are similar to non-transgenic wheat.
Transgenic researchAging-Dependent Hepatic YAP1 Reduction Promotes Metabolic Dysfunction-Associated Steatotic Liver Disease via Gut Microbiota Dysbiosis With Akkermansia muciniphila Downregulation.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyMachine learning-driven transcriptomic and single-cell profiling of programed cell death patterns in colon cancer.
Science progressT cell-specific HIF-2α attenuates colitis by antagonizing notch-driven Th2 differentiations.
Frontiers in immunologyNeoadjuvant chemoradiotherapy with or without PD-1 inhibitors in MMR-proficient non-metastatic rectal cancer: a meta-analysis of randomized controlled trials.
Frontiers in immunologyInterplay between host genetics and gut microbiome composition in the Japanese population.
Frontiers in microbiomesA Randomized Trial of Encorafenib and Cetuximab Versus Irinotecan/Cetuximab or FOLFIRI/Cetuximab in Chinese Patients With BRAFV600E Mutant Metastatic Colorectal Cancer: The NAUTICAL Study.
Cancer medicineNicotine suppresses ferroptosis in colon cancer cells via HMOX1/NF-κB pathway to reduce oxaliplatin sensitivity.
Apoptosis : an international journal on programmed cell deathA bile acid-GPBAR1 network supports anti-inflammatory and anti-fibrotic benefits of probiotics in colitis.
Gut microbesCardiovascular health assessed by Life's Essential 8 score, genetic risk, colonoscopy status, and risk of colorectal cancer: an analysis of UK Biobank.
BMJ open gastroenterologyIdentification of a druggable target that predicts postoperative Crohn's disease recurrence.
GastroenterologyInhibition of MAPK p38α overcomes the cancer immunosurveillance defect caused by FPR1 loss-of-function mutation.
Cell reports. MedicineOil-Coated Nanoplastics Induce Rapid Membrane Disruption and Severe Intestinal Injury.
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ACS applied materials & interfacesThe Aberrant Activation of NLRP3 in Microsatellites Stability Colon Cancer Promotes M2 Macrophage Polarization Based on the TCGA Database and Tissue Microarray Analysis.
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Genetics researchThe Molecular Interplay Between Helicobacter pylori Infection and Ulcerative Colitis: Unraveling Shared Biomarkers and Pathway Networks.
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Neurogastroenterology and motilityHookworm genes encoding intestinal excreted-secreted proteins are transcriptionally upregulated in response to the host's immune system.
PLoS neglected tropical diseasesProbiotic and immune-modulatory capacities of three human gut-derived strains of Parabacteroides distasonis.
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JCI insightDietary Quality and Microbiome Profiles among Rectal Cancer Patients: A Cross-Sectional Pilot Study.
Puerto Rico health sciences journalWernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.
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Communications biology[Electroacupuncture improves intestinal motility and visceral sensitivity in mice with functional constipation via up-regulating Piezo1/2 channel activity].
Zhen ci yan jiu = Acupuncture researchDetection of Fungal Translocation in Patients With Alcohol Use Disorder Using a Real-Time PCR Assay.
APMIS : acta pathologica, microbiologica, et immunologica Scandinavica[Effect of different frequencies electroacupuncture at "Zusanli"(ST36) on visceral sensitivity and adrenocorticotropin releasing factor expression in IBS mice].
Zhen ci yan jiu = Acupuncture researchReal-world evidence on medication patterns in inflammatory bowel disease the first decade after diagnosis.
Journal of Crohn's & colitisEffect of Low-Lactose Processed Milk on Clinical Symptoms and Gut Microbiome Modulation in Lactose-Intolerant Adults.
Journal of medicinal foodCharacterization of intestinal immune responses in generalized human and murine lipodystrophy.
The Journal of clinical investigationMismatch repair deficiency reshapes glioblastoma through immune suppression rather than hypermutation.
The Journal of clinical investigationIntegrative pan-cancer analysis reveals AARS2 as a lactylation-associated biomarker and therapeutic target in colon adenocarcinoma.
Frontiers in immunologyShared immune dysregulation in systemic lupus erythematosus and colorectal cancer: a multi-omics guided discovery of DNASE1L3-centric efferocytosis deficiency.
Frontiers in immunologyBone marrow mesenchymal stromal cells metabolic reprogramming in systemic lupus erythematosus: remodeling of bone marrow microenvironment and regulation of immune cell fate.
Frontiers in immunologyAntibiotics administration during weaning ameliorates intestinal mucosal inflammation in adult mice and their offspring.
Frontiers in immunology[Role of Galectin-9 and Sonic Hedgehog Expressions in the Early Diagnosis and Prognosis of Colorectal Cancer].
Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science editionGenetic Alterations Involved in Immune Escape Mechanisms of Circulating Tumour Cells in Colorectal Carcinogenesis.
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Phytomedicine : international journal of phytotherapy and phytopharmacologyEpidemiological and Clinical Aspects of Early-Onset Colorectal Cancer: A Comparative Study of 180 Cases.
La Tunisie medicalePotential risk assessment of different sizes of microplastics on the digestive system of hybrid sturgeon.
Environmental geochemistry and healthDual testing with immunohistochemistry and PCR for enhanced accuracy in dMMR/MSI detection in Greek colorectal cancer population: the impact of retesting.
Personalized medicineIntegrated Proteomics and Metabolomics Reveal the Direct Hepatic Protection of Propionate Against Alcoholic Liver Disease via the RGN-PPARα Pathway.
NutrientsEmerging Role of Taste Receptors, Entero-Endocrine Cells in Type 2 Diabetes and Metabolic Disorders.
NutrientsIntegrated Gut Microbiome and Metabolome Analysis in Largemouth Bass (Micropterus salmoides) Following Viral Infection.
Animals : an open access journal from MDPIDDR2-COL11A1 Transcriptional Coupling as a Candidate Therapeutic Target in Colorectal Cancer: Integrative Transcriptomic and Deep Learning Validation.
International journal of molecular sciencesRoburic Acid as a Therapeutic Candidate: Antiproliferative Activity and Secondary Cell Death Response in Colorectal Cancer Cells.
International journal of molecular sciencesThe Oral-Gut-Immune-Nutrition Axis in Rheumatoid Arthritis: Molecular Mechanisms and Therapeutic Implications.
International journal of molecular sciencesGenotoxic Bacteria and Oncogenic Viruses in Colorectal Cancer: Evidence, Gaps, and a Proposed Interaction Model.
International journal of molecular sciencesScreening, Prognostic, and Predictive Molecular Tools for Colorectal Cancer: Recent Advances in the Classical Background.
International journal of molecular sciencesA Developmental Perspective on the Intestinal Microbiota in Crohn's Disease.
International journal of molecular sciencesColitis-Associated Carcinoma: The Quintessential Epithelial Neoplasia Driven by Chronic Inflammation.
CellsPhosphatidylcholine and CHPT1 as Central Drivers of Chemoresistance in Colorectal Cancer: Lipidomic and Functional Insights.
CellsMachine Learning-Driven Multi-Omics Analysis Identifies CHP2 as a Key PANoptosis-Related Dual-Function Biomarker in Colorectal Cancer.
CellsKAT2B-mediated epigenetic suppression of RAD51C enhances olaparib sensitivity in colorectal cancer.
Cancer chemotherapy and pharmacologyButyrate extends health and lifespan in mice with mitochondrial deficiency.
Nature communicationsOverconsumption of fructose aggravates acute GVHD by inducing gut dysbiosis and promoting macrophage-mediated inflammatory response.
Gut microbesPaeoniflorin protects against radiation enteritis by suppressing YY1/ACSL4 axis to attenuate murine intestinal epithelial injury and ferroptosis.
ImmunobiologyJianPi QingRe HuoXue Formula targets Cadherin-17 to induce apoptosis in chronic atrophic gastritis with intestinal metaplasia.
Phytomedicine : international journal of phytotherapy and phytopharmacologyLncRNA MANCR Acts as a ceRNA to Sponge MicroRNA-20a-5p and Upregulate GCNT4 to Suppress Angiogenesis in Colorectal Cancer.
Critical reviews in eukaryotic gene expressionA Lack of Association between Vitamin D Receptor Gene Polymorphisms with Colorectal Cancer: A Comprehensive Meta-Analysis and Power Assessment.
Critical reviews in eukaryotic gene expressionInflammatory ILC2s migrate to distal tissues during infection using stage-specific S1P receptors.
Science immunologySENP3 drives colorectal cancer progression by enhancing GDF15 expression.
International journal of colorectal disease4‑Acetylantrocamol LT3 suppresses colorectal cancer growth and metastasis via PI3K/AKT and MAPK pathway modulation.
International journal of molecular medicineGlucose‑driven TRIB3 enhances the tumorigenic potential of colon cancer via the PI3K/AKT pathway.
Molecular medicine reportsSmoking promotes colorectal cancer via the CKAP2L/AREG axis.
International journal of oncologySingle-Cell Sequencing Data Revealed Mechanisms of Interactions Between Tumor Cells and Cancer-Associated Fibroblasts in Metastatic Colorectal Cancer.
BioMed research internationalThe exosomal miR-26b-3p derived from Crohn's disease-associated mesenteric adipose tissue induces M1 macrophage polarization and exacerbates ileocolonic anastomosis inflammation via the p38-MAPK signaling pathway.
Frontiers in immunologyGut microbial metabolites in inflammatory bowel disease: immunological mechanisms regulating Treg/Th17 balance and therapeutic potential.
Frontiers in immunologyA genetic toolkit for the human gut bacterium Mediterraneibacter gnavus identifies capsular polysaccharides as a competitive colonization factor.
Nature communicationsTumour immune cell infiltration and response to FOLFOX or FOLFIRI chemotherapy in colorectal cancer.
The pharmacogenomics journalPrevalence and molecular detection of Cryptosporidium parvum infection in sheep and cattle in Maiduguri, Nigeria.
Veterinary parasitology, regional studies and reportsFirst molecular identification of Spirometra erinaceieuropaei, Ligula intestinalis, and Taenia hydatigena infecting wildlife canine and avian hosts from the Astrakhan Region, Russia.
Veterinary parasitology, regional studies and reportsChicken feather protein hydrolysate: An alternative for the prevention of indomethacin-induced gastric ulcer formation in rats.
Food research international (Ottawa, Ont.)Intratumoral microbiota and host genotype cooperatively shape neutrophil cytotoxic functions in colorectal cancer.
Cell host & microbeA sweet side to fusobacteria.
Cell host & microbeSuppression Probe Enrichment for Highly Sensitive and Multiplexed Detection of RAS Mutations in Colorectal Cancer.
Analytical chemistryA Novel Indigenous Probiotic, Clostridium moniliforme G18, Confers Health Benefits to Mud Crabs (Scylla paramamosain).
Probiotics and antimicrobial proteinsKRAS Variant Frequency and Colorectal Cancer-Specific Survival by Race and Ethnicity.
JAMA network openIdentification and characterization of VC1123, a novel gene required for colonization in Vibrio cholerae.
Frontiers in microbiologyPeriodontitis promotes intestinal inflammation through gut microbiota-mediated suppression of GPR109A.
Frontiers in cellular and infection microbiology[Shenzao Jiannao Oral Liquid treats Alzheimer's disease by regulating gut microbiota].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Mechanism study of modified Xiangsha Liujunzi Decoction in regulating intestinal HDL3 to ameliorate hepatic inflammation in hyperlipidemic mice].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Mechanism of sarsasapogenin targeting HIF1α protein stability in inhibiting glycolytic metabolic reprogramming in colorectal cancer].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Transcriptomics and cell experiments reveal regulatory effect of jatrorrhizine on SAT1-mediated ferroptosis in colorectal cancer cell].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Asthma-alleviating effects of Poria cocos based on network pharmacology and gut microbiota].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Mechanism of Shuangshen Yiwei Granules in regulating gastric acid secretion and blocking malignant progression of chronic atrophic gastritis with gastric intestinal metaplasia].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Traditional Chinese medicine improves glycolipid metabolism disorders caused by high-fat diet via regulating AMPK/FXR/TLR4 signal molecules through gut-liver axis].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medicaAJUBA: The Master Regulator Bridging EMT and Immune Evasion in Colorectal Cancer.
Mediators of inflammationBEX2 influences the MCL1-Hedgehog signaling axis to regulate the potential of stemness characterization in colorectal cancer.
Cancer biology & medicineExcessive poly(ADP)-ribosylation in the inflamed mucosa of pediatric celiac disease points to a novel inflammatory mechanism and therapeutic target.
Molecular and cellular pediatricsMetabolically reprogrammed eosinophils impair T cell immunity and cause chronic skin infection.
EMBO molecular medicine[Advanced colorectal cancer in a 19-year-old male patient with Lynch syndrome:a case report].
Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterologyDetection of mitochondrial DNA mutations in T cells following 5-FU or cisplatin exposure.
Cell reports. MedicineProtective effects of magnolol, an active compound of Houpu Sanwu Tang, on intestinal barrier function in sepsis: Mechanisms of PPARG activation and inhibition of JAK-STAT and NF-κB signaling.
International immunopharmacologyAssociation Between Inflammatory Bowel Disease and Venous Leg Ulcers: Insight From Mendelian Randomization Analyses.
Canadian journal of gastroenterology & hepatologyChasing the Ghost in the Code: Highlighting the mystery of a rare genetic condition.
American journal of physiology. Cell physiologyInterplay between colorectal cancer-related lifestyles and the gut microbiome: an exploratory analysis of metagenomic data.
Cancer causes & control : CCCGut microbiome-produced bile acid metabolite lengthens the circadian period in host intestinal cells.
Proceedings of the National Academy of Sciences of the United States of AmericaAssociation between autoimmune diseases and the gut microbiome.
International immunologyAdvances in non-invasive biomarkers for pediatric inflammatory bowel disease diagnosis.
World journal of gastroenterologyGenetic background of infantile hypophosphatemia: a narrative review.
Translational pediatricsAssociation analysis of the differences in intestinal flora and clinical tumor indicators among colorectal cancer patients.
Frontiers in cellular and infection microbiologyTargeting Dialister-driven succinate accumulation: A novel strategy for Crohn's disease activity control and recurrence prevention.
World journal of gastroenterologyPeroxiredoxin 1 as a novel pyroptosis inducer in colorectal cancer: Insights and future directions.
World journal of gastroenterologyOncological Genetic Counseling in Hereditary Breast and Ovarian Cancers and Lynch Syndrome High-Risk Subjects: Evaluation of Efficacy and Outcomes Using the Genomics Outcome Scale.
Human mutationGut bacterial and fungal signatures in relation to human leukocyte antigen-DQ2/DQ8 in children with celiac disease and siblings.
World journal of gastroenterologyDistribution and prognostic value of macrophages in colorectal cancer and adjacent mucosa in patient stages I-III vs IV.
World journal of gastroenterologyNOTCH3 attenuates cytotoxicity via RBPJ-dependent PVR upregulation to influence immunotherapy outcomes in colorectal cancer.
Frontiers in immunologyAdherence to guidelines, pitfalls, and emerging technologies in endoscopic practice for celiac disease: a nationwide SIGENP survey.
European journal of pediatricsBacteroides-associated NAD⁺ depletion correlates with exacerbated radiation-induced colorectal injury and impaired mucosal proliferative capacity.
Gut microbesLipidomics uncovers metabolic manifestations related to liver steatosis and low-grade systemic inflammation in diet-treated hereditary fructose intolerance patients.
Clinical nutrition (Edinburgh, Scotland)ZNF460 Promotes the m6A Modification of COPS6 to Facilitate Immune Escape in Colorectal Cancer.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyDietary Protein Modulation, Gut Microbiota, and Metabolic Control in Methylmalonic Acidemia: A Prospective Longitudinal Study.
Journal of inherited metabolic diseaseA genetic model of congenital intestinal atresia implicates Mypt1 in epithelial organisation.
Disease models & mechanismsCDH1, CAV1, NR3C1, and ZEB1 are Potential Biomarkers in Colorectal Cancer Drug Resistance and Prognosis.
Technology in cancer research & treatmentSingle Cell RNA Transcriptomics of Mantle Cell Lymphoma Reveals the Presence of Treatment-Resistant Subclones at the Time of Diagnosis.
American journal of hematologyGegen Qinlian decoction alleviates bacterial diarrhea via Lactobacillus amylovorus-modulated restoration of colonic water transport through the cAMP/CFTR/AQP3 pathway.
Microbial pathogenesisZoonotic risk of transmission of Giardia duodenalis from water resources; Worldwide molecular and network analyses.
Acta tropicaMicroalgal delivery of recombinant fish interferon modulates gut microbiota and enhances antiviral immunity in fish.
Journal of immunology (Baltimore, Md. : 1950)Pretreatment KRAS-Mutant Circulating Tumor DNA Predicts Incidence and Patterns of Recurrence in Patients Undergoing Radiofrequency Ablation for Colorectal Liver Metastases: A Prospective Analysis.
JCO precision oncologyInvolvement of gastrointestinal functional disorder in the management of inflammatory bowel disease.
DigestionRND-mediated efflux couples antimicrobial resistance and hypervirulence in contemporary Vibrio cholerae.
PLoS pathogensIntegrative network pharmacology and machine learning identify potential targets of indole-3-lactic acid in colorectal cancer.
PloS oneReduced levels of mitochondrial ribosomal protein MRPL54 does not alter Apc related adenoma formation.
PloS oneFunctionally-derivatized Nanoantibodies as novel tools for Giardia lamblia cyst detection.
PLoS neglected tropical diseasesFrom environmental reservoirs to clinical threats: the expanding resistome and genetic plasticity of Citrobacter spp.
InfectionA yeast synthetic biotic platform for delivery of therapeutic nanobodies to ameliorate gastrointestinal inflammation.
Disease models & mechanismsThe ethnicity and gut microbiota hypothesis: analyzing multifactorial interactions and their health implications.
Frontiers in microbiologyGut-Derived Hippuric Acid Alleviates Hepatic Lipid Metabolism via UGDH/FOXK1/CD36 Axis in Obese Mice.
Drug design, development and therapyCD44/POU2F2/BCL9L axis mediates MIF-driven SPP1+TAM activation in colorectal cancer metastasis.
International journal of biological sciencesThe role of p38 MAPK in acteoside-mediated gastric ulcer protection.
International journal of medical sciencesGut Microbiota Signatures and Potential Mediators in the Trajectory of Age-related Macular Degeneration: A Phased Atlas by Genetic Inference.
International journal of medical sciencesThe Role of the Gut Microbiome in Clinical Outcomes of Colorectal Cancer: A Systematic Review (2020-2025).
Oncology researchIdentification of programmed cell death-related subtypes reveals immune heterogeneity and therapeutic divergence in colon cancer.
TheranosticsC-terminal Fragment Generated by HOIL-1 Cleavage Suppresses Inflammatory Responses of Myeloid Cells to Alleviate Colitis.
TheranosticsThe hidden link between iron deficiency and celiac disease: a clinical perspective.
Frontiers in immunologyCase Report: Interleukin-23 blockade achieves sustained remission in Niemann-Pick type C-associated Crohn's disease refractory to anti-tumor necrosis factor therapy.
Frontiers in immunologyD-allose suppresses colitis associated carcinogenesis by reversing ER stress in macrophages and inhibiting cancer cell proliferation.
Frontiers in immunologySuccessful upadacitinib treatment in anti-TNF-refractory intestinal Behçet's disease: a case report and literature review.
Frontiers in medicineExtrachromosomal DNA Detection and Ultrastructural Profiling in Lung and Colorectal Cancer Models.
Genes, chromosomes & cancerIntegrating machine learning of bulk and single cell RNA data to characterize immune mechanism of m6A related mitophagy genes in malignant gastric cancer.
Computer methods and programs in biomedicineToxicity of polycaprolactone nanoplastics, pristine or weathered in environmental conditions, to human intestinal epithelial cells, in vitro.
NanoImpactA De Novo Variant in Calponin2 Causes Intestinal Pseudo-obstruction: Evidence from Patient and Mouse Model.
Journal of pediatric surgeryCurcumin Modulates 5-fluorouracil Sensitivity in Colorectal Cancer Cells Through the circ-NRIP1/miR-195-5p/SMURF1/AKT Signaling Axis.
Journal of biochemical and molecular toxicologyThe Efficacy and Safety of Hepatic Arterial Infusion Chemotherapy for Mismatch Repair Proficient (pMMR)/Microsatellite Stable (MSS) Colorectal Cancer Liver Metastases (CRLM).
Cancer medicine[The Role of Iron Dysregulation in White Matter Injury Induced by Carbon Mono- xide Poisoning].
Fa yi xue za zhiDifferential Effects of Saturated and Unsaturated Fatty Acids on Colorectal Cancer via IDO1 Signaling.
Cancer medicineCase report: The first report of a family with sitosterolemia in the Polish population.
Journal of clinical lipidologyILA-producing bifidobacterium bifidum ameliorates chronic kidney disease via AHR signaling by modulating the gut-kidney axis.
Food research international (Ottawa, Ont.)Engineering lactococci to reduce human lactose intolerance; biotechnology and risk/benefit assessment toward the gut microbiota of lactose-intolerants.
Food research international (Ottawa, Ont.)Molecular Insights into the Immunomodulating and Anticancer Mechanisms of Eremina desertorum (Forsskal, 1775) Mucin in HepG-2 and CACO-2 Cells.
Asian Pacific journal of cancer prevention : APJCPExosome genomics in inflammatory bowel disease: mechanisms and diagnostic potential.
European journal of medical researchA Meta-Analysis: <em>PTEN</em> Expression in Relation to Prognosis and Clinical Characteristics of Patients with Colorectal Cancer.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPPhosphorylations of serines 21/9 in glycogen synthase kinase 3α/β are dispensable for V600EBRAF-driven premalignant tumour development in the mouse intestine.
PloS oneMendelian randomization study finds no causal link between inflammatory bowel disease and cirrhosis.
MedicineAssociation between oral microbiota and inflammatory bowel disease: A 2-sample Mendelian randomization study in East Asian populations.
MedicineBifidobacterium breve CCFM1078 alleviates DNFB-induced atopic dermatitis in early-life via AhR activation, Th1/Th2 immune modulation, and gut microbiota regulation.
Food & functionIntegrative 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 CenterCLDN7: Epithelial gatekeeper from physiology to pathology‑roles in cancer and epithelial‑related diseases (Review).
International journal of molecular medicineAdvances and Ongoing Challenges in Colorectal Cancer.
Chirurgia (Bucharest, Romania : 1990)lncRNA AL445238.2‑USP4 axis regulates cell survival and stemness in colon cancer.
International journal of oncologyA multi-dimensional omics framework identifies GPR35 as a driver of M2 macrophage activation and poor prognosis in colorectal cancer.
Frontiers in immunologyIdentification of public neoantigens with broad HLA class I coverage as candidates for off-the-shelf cancer vaccine development in colorectal cancer.
Frontiers in immunologyA multi-machine learning framework identifies novel PANoptosis-related biomarkers and their immune landscape in ulcerative colitis: Insights from transcriptomics and experimental validation.
Frontiers in immunologyA Novel Zebrafish Liver-Specific Metastasis Model Reveals c-Met as a Driver of Liver Tropism.
Liver international : official journal of the International Association for the Study of the LiverChanges of Helicobacter pylori Infection Status and Risk of Precancerous Lesions: A Prospective Cohort Study in Chinese Population.
HelicobacterPMM2 interacts with TRIM28 to recruit E2F4 and promote KIFC3-mediated tumor glycolysis and colorectal cancer progression.
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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 categoria da classificação Orphanet (ORPHA:165655) que reúne diferentes doenças genéticas do intestino. Por ser uma classificação de grupo, ela engloba múltiplas enfermidades com características próprias.
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 intestinal. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/doenca-genetica-intestinal
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Doença genética intestinal
📋 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