Raras
Buscar doenças, sintomas, genes...
Síndrome de tremor-nistagmo-úlcera duodenal
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Síndrome rara autossômica dominante caracterizada por tremor cinético, nistagmo e úlcera duodenal. Frequentemente associada a morfologia cerebelar anormal, ataxia e outros distúrbios do movimento.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
17
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: G25.0
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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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

Partes do corpo afetadas

🧠
Neurológico
4 sintomas
👁️
Olhos
1 sintomas

+ 3 sintomas em outras categorias

Características mais comuns

90%prev.
Nistagmo
Muito frequente (99-80%)
90%prev.
Úlcera duodenal
Muito frequente (99-80%)
90%prev.
Anormalidade do movimento
Muito frequente (99-80%)
55%prev.
Ataxia
Frequente (79-30%)
Morfologia anormal do cerebelo
Tremor
8sintomas
Muito frequente (3)
Frequente (1)
Sem dados (4)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 8 características clínicas mais associadas, ordenadas por frequência.

NistagmoNystagmus
Muito frequente (99-80%)90%
Úlcera duodenalDuodenal ulcer
Muito frequente (99-80%)90%
Anormalidade do movimentoAbnormality of movement
Muito frequente (99-80%)90%
Ataxia
Frequente (79-30%)55%
Morfologia anormal do cerebeloAbnormal cerebellum morphology

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026166 papers
Linha do tempo
2026Hoje · 2026
Publicações por ano (últimos 10 anos)

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

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de tremor-nistagmo-úlcera duodenal

🗺️

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

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
0 papers (10 anos)
#1

Impact of Post-Transplant Cyclophosphamide on the Prognostic Value of HCT-CI.

Transplantation and cellular therapy2026 Mar 19

The hematopoietic cell transplant comorbidity index (HCT-CI) is a validated prognostic tool for baseline assessment in allogeneic hematopoietic cell transplantation (HCT). The impact of the individual components of the HCT-CI on prognosis remains unknown for patients undergoing post-transplant cyclophosphamide (PTCY) based graft versus host disease (GVHD) prophylaxis. Data were collected and validated from patients undergoing HCT for myelodysplastic syndrome or acute myeloid leukemia at our center between 2018 and 2022. Multivariable regression analysis was used to identify an optimized subset of HCT-CI; Akaike information index (AIC) was used to assess model fit; C-index was used to evaluate the predictive ability of models. From 586, 184 (31%) received PTCY; HCT-CI comorbidities were balanced between non-PTCY and PTCY- subgroups except for renal, which was only present in 8 patients. Higher HCT-CI was associated with an increased cumulative incidence of NRM in univariable (3-year NRM: 22% (≥ 5) vs 12% (2-4) vs 4.8% (0-1), p=0.0002) and multivariable analysis (subdistribution HR 4.28 for HCT-CI≥ 5, p=0.0003, 2.61 for 2-4, p=0.013). Subset of HCT-CI comorbidities-diabetes, infection, peptic ulcer disease, renal, rheumatologic, and severe pulmonary comorbidities- had a similar impact on NRM as the total score. Diabetes and cardiac comorbidities had a strong association with NRM, and the addition of cardiac comorbidities improved the C-index only in the PTCY subgroup. The HCT-CI retains prognostic significance in the PTCY era, although refinement may be required. Future studies can identify links between cardiac comorbidities and NRM when using PTCY.

#2

Current and emerging approaches to manage chronic inflammatory gut disorders.

Frontiers in cellular and infection microbiology2026

Chronic inflammatory gastrointestinal disorders, including inflammatory bowel disease (IBD), Crohn's disease, ulcerative colitis, and irritable bowel syndrome (IBS), remain challenging to manage due to complex etiologies, heterogeneous disease progression, and limitations in current diagnostic and therapeutic strategies. Existing clinical approaches rely on a combination of invasive and non-invasive diagnostic tools, while therapeutic management predominantly involves symptomatic control, disease-modifying pharmacotherapy, and surgical interventions. However, these strategies often fail to enable early or real-time disease detection and frequently fall short of achieving sustained remission. This review highlights two emerging and potentially transformative approaches: nanomedicine and living diagnostic-therapeutic systems. Nanomedicine has gained significant attention for its ability to enhance targeted drug delivery and improve therapeutic efficiency, addressing several limitations of conventional treatments; nevertheless, challenges related to delivery consistency, biosafety, scalability, and long-term efficacy persist. In parallel, living diagnostic-therapeutic systems-engineered whole-cell sensors capable of real-time sensing and on-demand therapeutic response within the gut-represent a compelling alternative. Although still at an early stage of development, promising preclinical and limited clinical studies demonstrate their potential utility. Key challenges remain, including biosensor functionality, genetic stability, microbial colonization, host-microbe interactions, and integration into existing healthcare frameworks, alongside regulatory and translational barriers. Overall, the convergence of nanomedicine and living, responsive systems may offer a transformative pathway for the diagnosis and treatment of chronic inflammatory gut diseases.

#3

Prevalence of Latent and Active Tuberculosis Infection in Inflammatory Bowel Disease Patients Who Received Biological Treatment.

The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology2026 Feb 13

This study aims to assess the frequency of latent tuberculosis (TB) and the incidence of active TB infection in patients with inflammatory bowel disease (IBD) and Behçet's syndrome with gastrointestinal involvement who received either tumor necrosis factor-alpha (TNF-α) antagonist therapy or vedolizumab as a second-line biologic treatment following TNF-α antagonist therapy. A total of 349 patients were included in the study. Demographic data, disease characteristics, TB screening results, prophylactic treatment regimens and the duration, as well as side effects were collected from patient records. Among the patients, 196 (56.1%) were male, with a mean age of 42 years and a mean disease duration of 10 Å} 6 years. A total of 267 (76.5%) had Crohn's disease, 76 (21.8%) had ulcerative colitis, 3 had indeterminate colitis (0.8%), and 3 had Behçet's syndrome with gastrointestinal involvement (0.8%). Latent TB was diagnosed in 176 (50.4%) patients, and 162 (92%) of them received isoniazid prophylaxis. Six (1.7%) patients developed active TB infection during the treatment period, occurring between 2 and 48 months after initiating TNF-α antagonist therapy. No cases of tuberculosis were observed in patients who had vedolizumab treatment. Among those who developed TB, 3 patients had pulmonary TB, and 3 had both pulmonary and extrapulmonary TB. No significant association was found between TB development and IBD phenotype or isoniazid use. Despite latent TB screening and prophylactic treatment, patients receiving TNF-α antagonists remain at risk of developing active TB, with a latent TB prevalence of 50.4% and an active TB incidence of 1.7%. These findings underscore the continued need for vigilance and robust TB monitoring strategies in this patient population.

#4

Magnesium Deficiency Accelerates Gut Aging and Increases Susceptibility to Colitis.

Aging cell2026 Mar

Aging is linked to a higher incidence of gut diseases such as inflammatory bowel disease (IBD), yet the underlying mechanisms remain unclear. We identified an age-related decline in magnesium (Mg) levels specifically in the gut across species, prompting investigation of its role in intestinal health. Functional studies demonstrated that Mg restriction accelerates gut aging in old but not in young mice and aggravates colitis severity. Multi-omics analysis of mouse tissues revealed that dietary Mg deficiency reshapes the phosphoproteome and N-glycoproteome, destabilizing adhesion complexes, a hallmark of intestinal aging and inflammation. In the UK Biobank cohort (n = 182,213), dietary Mg intake was inversely correlated with gut disorder risk, with 334.7-420.0 mg/day conferring significant protection against Crohn's disease, ulcerative colitis, irritable bowel syndrome, and diverticular disease. These findings identify Mg homeostasis as a key regulator of gut health and highlight Mg supplementation as a potential strategy to counteract age-related gut dysfunction.

#5

Extensive Oral Ulcerations After Stem Cell Transplant.

JAMA oncology2026 Mar 12

A 69-year-old male patient presented with worsening new-onset oral ulcerations and pain. He had myelodysplastic syndrome and underwent an allogeneic hematopoietic stem cell transplant 18 months prior. What is your diagnosis?

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Anti-NXP2 antibody-positive dermatomyositis presenting as systemic capillary leak syndrome with cutaneous and gastrointestinal ulcers.

Rheumatology advances in practice
2026

Analysis of Biomarkers in Diabetic Foot Ulcer Patients With Dampness-Heat Syndrome Based on 4D-DIA Proteomics Technology.

Journal of diabetes research
2026

Renal-Limited Cryofibrinogen-Associated Glomerulonephritis Diagnosed Using Electron Microscopy.

Nephrology (Carlton, Vic.)
2026

Improved Outcomes with Total Contact Cast After non-Ischemic Mixed Diabetic Foot Attack with Necrotizing Fasciitis and Compartment Syndrome: A Clinical Evaluation.

The international journal of lower extremity wounds
2026

A Lip Fixation Device Facilitates Labial Salivary Gland Biopsy for Sjögren's Disease.

Journal of visualized experiments : JoVE
2026

Expert consensus on acupuncture for diabetic foot.

American journal of clinical and experimental immunology
2026

Iliofemoral Venous Occlusion Due to Previous Intravenous Drug Abuse Crossed by Sharp Recanalization Technique With Endovascular Stenting: A Case Report.

Journal of the Society for Cardiovascular Angiography &amp; Interventions
2026

Case Report: A rare but critical complication in patients with lumbar infection combined with cauda equina syndrome-sacrococcygeal pressure sores.

Frontiers in medicine
2026

Impact of Post-Transplant Cyclophosphamide on the Prognostic Value of HCT-CI.

Transplantation and cellular therapy
2026

The effects of anabolic-androgenic steroids administration on oral health in humans: a scoping review.

The Journal of sports medicine and physical fitness
2026

Current and emerging approaches to manage chronic inflammatory gut disorders.

Frontiers in cellular and infection microbiology
2026

Secukinumab-Induced Delayed Behçet-Like Reaction in a Patient with Plaque Psoriasis: A Case Report.

Clinical, cosmetic and investigational dermatology
2026

Sigmoid wall thickness correlates with fecal calprotectin during irritable bowel syndrome exacerbation.

Medical ultrasonography
2026

Implications of Dermatologic Disorders in Facial Cosmetic Surgery: A Systematic Review.

Annals of plastic surgery
2026

Cytomegalovirus Infection Mimics Manifestations of Underlying Diseases in Patients With Autoimmune Disorders: A Case Report and Literature Review.

Immunity, inflammation and disease
2026

Prevention of Pressure Injuries During Nasal Continuous Positive Airway Pressure in Newborns: A Non-pharmacological Intervention Trial.

Nursing in critical care
2026

Prevalence of Latent and Active Tuberculosis Infection in Inflammatory Bowel Disease Patients Who Received Biological Treatment.

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

Comparative seven year outcomes of RYGB and SADI-S as revisional procedures for weight recurrence regain after sleeve gastrectomy: weight loss trajectory, reflux control, and metabolic safety.

Surgical endoscopy
2026

Magnesium Deficiency Accelerates Gut Aging and Increases Susceptibility to Colitis.

Aging cell
2026

Adherence to Recommended Immunisation Schedules for Patients With Inflammatory Bowel Disease (IBD) on Biologics: A Retrospective Study at Our Lady's Hospital, Navan, Ireland.

Cureus
2026

[Use of human umbilical cord acellular matrix for soft tissue defects in patient with diabetic foot syndrome (case report)].

Problemy endokrinologii
2026

Course and predictors of somatic symptom disorder in irritable bowel syndrome and ulcerative colitis: A longitudinal analysis from the SOMA.GUT-RCT.

General hospital psychiatry
2026

6-Shogaol ameliorates experimental colitis and colitis-associated colorectal cancer in mice through the Nrf2-Keap1 signaling pathway.

European journal of pharmacology
2026

Chronic Limb-Threatening Ischemia Owing to Popliteal Artery Aneurysms With Repeated Occlusion After Stent Graft Placement That was Successfully Treated With Supera Stent Reinforcement: A Case Report.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography &amp; Interventions
2026

Extensive Oral Ulcerations After Stem Cell Transplant.

JAMA oncology
2026

Wnt/β -catenin signalling shapes macrophage behaviour during injury and repair in the mouse submandibular gland.

Scientific reports
2026

From Gut to Metabolism: Exploring the Intersection of Inflammatory Bowel Disease and Systemic Metabolic Dysfunction.

Journal of clinical gastroenterology
2026

Diabetic foot ulcer: a systematic review of risk factors.

Journal of wound care
2025

A Rare Case of Paraneoplastic Raynaud's Phenomenon and Uveal Melanoma.

Acta dermatovenerologica Croatica : ADC
2026

CT Imaging Features of Acute Aortic Syndrome: A Case Series.

Cureus
2026

Clinical phenotype and long-term damage in paediatric Behçet's disease: comparative performance of ISG, ICBD and PEDBD classification criteria in a retrospective endemic cohort.

RMD open
2026

Dermatologic Findings of RELA-Associated Autoinflammatory Disease.

Pediatric dermatology
2026

[Gastrointestinal complications of dual antiplatelet therapy in patients with ischemic heart disease: risk stratification, current management tactics. A review].

Terapevticheskii arkhiv
2026

Abdominal Compartment Syndrome Following Massive Transfusion in Upper Gastrointestinal Bleeding: A Case Report.

Cureus
2026

Association Between Rheumatoid Arthritis and Gastrointestinal Comorbidities: Evidence From Taiwan's National Health Insurance Database.

International journal of rheumatic diseases
2026

Interplay of probiotics, prebiotics, synbiotics and postbiotics: a review of their therapeutic potential for gastrointestinal inflammation.

Food research international (Ottawa, Ont.)
2026

[Postthrombotic syndrome: an update].

Dermatologie (Heidelberg, Germany)
2026

Case Report: Diverse pediatric phenotypes of RELA frameshift variants: comparison of two cases.

Frontiers in immunology
2026

Case Report: Successful endoscopic treatment of gastric outlet obstruction due to duodenal persimmon phytobezoar.

Frontiers in medicine
2026

A Presumed Dysphagia Aortica in a Siamese Cat.

Veterinary radiology &amp; ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association
2025

Acute abdomen: postmortem analysis of 31 cases in the Emergency Department - a monocentric retrospective study.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
2026

An abnormal immune response masquerading as infectious conditions.

SAGE open medical case reports
2026

When Recurrent Pancreatitis Is Not Pancreatitis: Cyclic Vomiting Syndrome Masquerading as Acute Pancreatitis in a Young Adult.

Cureus
2026

[Lower gastrointestinal bleeding secondary to Chronic Nonspecific Ulcerative Colitis: A clinical case].

Revista medica del Instituto Mexicano del Seguro Social
2026

The Vital Role of Family Physicians in the Screening and Early Detection of Lynch Syndrome: A Case Report.

Cureus
2026

The role of mediterranean diet and highly processed foods in inflammatory bowel diseases.

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

Geriatric vulnerability and symptom burden as determinants of p Geriatric vulnerability and symptom burden as determinants of palliative care in respiratory disease.

Journal of pain and symptom management
2026

Association of cancer on coronary atherosclerotic burden and plaque rupture: Insights from the BRAVADO study.

Atherosclerosis
2026

Adjunctive Molecular Hydrogen Therapy Modulates T Cell Markers and Reduces Anti-Ro Antibody in Refractory Oral Ulcers of Behçet's Disease and Sjögren's Syndrome: A Case Report.

In vivo (Athens, Greece)
2026

Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection.

Frontiers in immunology
2026

SARS-CoV-2 Persistence and the Gut Microbiota: New Insights into Long COVID Pathogenesis.

Viruses
2026

Varicella-Zoster Virus and the Eye: Clinical Spectrum, Management, and Vaccination.

Pathogens (Basel, Switzerland)
2026

Reactive Infectious Mucocutaneous Eruption (RIME) Associated with Mycoplasma pneumoniae: Clinical and Immunological Insights from Pediatric Cases.

Microorganisms
2026

Understanding Frailty in IBD: Implications for Clinical Outcomes and Multidisciplinary Care.

Journal of clinical medicine
2026

Efficacy and safety of mufemilast in patients with Behçet's syndrome: a phase 2 randomised clinical trial.

Annals of the rheumatic diseases
2026

Tackling the diagnosis of HA20 in children: challenges of a highly variable clinical and genetic spectrum.

RMD open
2026

Geriatric-Typical Characteristic Complexes Predict Short-Term Outcome of Proximal Humeral Fractures in Geriatric Patients.

Clinical interventions in aging
2026

Multifocal Osteonecrosis in a Patient With Systemic Lupus Erythematosus and Antiphospholipid Syndrome Associated With Pyoderma Gangrenosum and Other Complications: A Case Report.

Case reports in medicine
2026

Follicular helper-like γδ T cells promote plasma cell differentiation in Behçet's disease.

Frontiers in immunology
2026

Gegen Qinlian decoction ameliorates experimental colitis in miceferroptosis pathway.

Journal of traditional Chinese medicine = Chung i tsa chih ying wen pan
2026

Balancing therapeutic benefits and hidden risks of proton pump inhibitors in pediatric practice: a narrative review and update.

Clinical and experimental pediatrics
2026

Characteristics of monogenic inflammatory bowel disease in very early-onset cases: a Japanese multicenter registry study.

Intestinal research
2026

Prevalence of disorders of gut-brain-interaction in pediatric patients with in-remission inflammatory bowel disease: An Italian multicenter study.

Journal of pediatric gastroenterology and nutrition
2026

The Efficacy and Safety of Indobufen-Based DAPT in ACS Patients with a History of Gastrointestinal Damage Undergoing PCI: A Single-Center, Observational Study.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
2025

Trigeminal trophic syndrome.

Dermatology online journal
2026

Dysbiosis of the enteric DNA virome correlates with the development of cachexia in a murine Lewis lung carcinoma (LLC) model.

Archives of virology
2026

The role of gut microbes in production of aromatic carboxaldehydes.

Gut microbes
2026

Development and validation of the IBD frailty score in a multicenter prospective cohort of IBD outpatients.

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

Bowel-Associated Dermatosis and Arthritis Syndrome (BADAS) - A Literature Review With Diagnostic and Therapeutic Implications and a Report of Two Cases of BADAS Associated With Inflammatory Bowel Disease.

Archivum immunologiae et therapiae experimentalis
2026

Mismatch Repair Deficiency in Benign and Atypical Ocular Sebaceous Neoplasms: Implications for Muir-Torre Screening and Classification.

American journal of ophthalmology
2026

Complications are more commonly reported for French Bulldogs than Miniature Dachshunds undergoing hemilaminectomy for thoracolumbar intervertebral disk extrusion.

Journal of the American Veterinary Medical Association
2026

Morbidity and Mortality Among People Living With HTLV-1: A 30-Year Retrospective Analysis in a Brazilian Cohort.

Journal of medical virology
2026

Clinico-Etiological Study of Purpura Fulminans: Experience from a Tertiary-Care Children Hospital.

Indian dermatology online journal
2026

Cross face nerve grafting for reinnervation of nasal and tongue mucosa following trigeminal nerve injury.

JPRAS open
2026

Pemphigus Vulgaris Mimicking Behçet's Syndrome With Oral and Vulvar Ulcers: A Case Report.

Cureus
2026

Development and External Validation of a Nomogram for Predicting Upper Gastrointestinal Bleeding in Patients After Percutaneous Coronary Intervention: A Retrospective Multicenter Cohort Study.

International journal of general medicine
2026

Adverse Drug Reaction to Paracetamol: Case Report of Oral Manifestation of Stevens-Johnson Syndrome in Children.

International medical case reports journal
2026

Cytometry-based blood immune cell markers associated with clinical outcomes in systemic sclerosis: protocol for a systematic review.

BMJ open
2026

Epidemiology and clinical features of Behçet's disease in the Middle East and North Africa:A systematic review and meta-analysis.

Clinical rheumatology
2026

A New Paradigm in Metabolic Surgery: Jejunal Bipartition.

Journal of laparoendoscopic &amp; advanced surgical techniques. Part A
2026

Expanding the Clinical Spectrum of VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) Syndrome: The First Report of Histologically Confirmed Neutrophilic Colitis With Rare Muscular and Pancreatic Involvement.

Cureus
2026

Unveiling Shared Genetic Architectures and Causality: Intestinal Diseases and Neurological Diseases.

Brain and behavior
2026

Enhanced CHI3L1 promotes macrophage activation in persistent inflammatory events of ulcerative interstitial cystitis.

Frontiers in immunology
2026

Huangtu Decoction regulates macrophage M1/M2 polarization to alleviate DSS- and rhubarb-induced Deficiency-Cold Pattern in Ulcerative Colitis by inhibiting the HIF-1α signaling pathway.

Journal of ethnopharmacology
2026

The Bidirectional Relationship Between Cognitive Function and Active Inflammatory Bowel Disease.

The American journal of gastroenterology
2026

Neonatal Behçet's syndrome: a case report and literature review.

Reumatismo
2026

Clinical and Imaging Features of Aortic Penetrating Atherosclerotic Ulcers: A Systematic Review and Meta-Analysis.

Journal of clinical medicine
2026

Acute-to-chronic glycemic ratio: a promising biomarker for prognosis of diabetic foot ulcers in a multi-center cohort study.

Diabetology &amp; metabolic syndrome
2026

Persistent Abdominal Pain in Patients with Inactive Inflammatory Bowel Disease: A Clinical Conundrum.

Inflammatory bowel diseases
2026

Fatal Granulomatosis with Polyangiitis Presenting as Medial Longitudinal Fasciculus Syndrome with Gastrointestinal Perforation: An Autopsy Case Report.

JMA journal
2026

Activating PXR by Curcumol Ameliorates DSS-Induced Ulcerative Colitis via Transcriptional Repression of STING Signaling.

Journal of agricultural and food chemistry
2026

Polysaccharide structural differences in Shenling Baizhu formulations and their therapeutic effects in ulcerative colitis and irritable bowel syndrome.

International journal of biological macromolecules
2026

High-Sensitivity C-Reactive Protein and Risk of Recurrent Vascular Events in Patients With Stroke Associated With Complex Aortic Atheroma.

Circulation reports
2026

A Case Report of Milk-Alkali Syndrome Secondary to Excessive Antacid Use.

Clinical practice and cases in emergency medicine
2026

Vulvar Necrosis Following Uterine Artery Embolisation for Uterine Fibroid Treatment: A Case Report and Literature Review.

Cureus
2026

Two-phase Intravesical Injection of Apheresis-derived Platelet-rich Plasma for Non-ulcerative Primary Bladder Pain Syndrome: A Prospective Single-center Study.

Urology
2026

Focal active colitis: Diagnostic relevance and long-term clinical outcomes.

Human pathology
2026

Dientamoeba fragilis dominance in IBS and Blastocystis sp. in ulcerative colitis.

Diagnostic microbiology and infectious disease
2026

Chitosan and polyacrylic acid engineered AlFeO3 validated degradation of rhodamine B and resistant Pseudomonas aeruginosa of epizootic ulcerative syndrome in Ctenopharyngodon idella with mechanistic insights.

International journal of biological macromolecules
2026

Filiform Polyposis of the Terminal Ileum as the Initial Manifestation of Crohn's Disease: A Case Report.

The American journal of case reports
2026

Luteolin/polyvinyl alcohol/sodium alginate hydrogel enhances fibroblast-mediated tissue repair and facilitates pressure injury healing.

Biomaterials advances
2026

Multidisciplinary diagnosis and treatment of iatrogenic Cushing syndrome in a patient with obsessive-compulsive disorder.

Endocrinology, diabetes &amp; metabolism case reports
2026

From Needle to Necrosis: A Case Report on Nicolau Syndrome.

Cureus
2026

Catastrophic antiphospholipid syndrome with eosinophilia mimicking hypereosinophilic syndromes with disseminated intravascular coagulation: a case report.

Journal of medical case reports
2026

Preparation and evaluation of elastic provesicular chrysin carriers: a targeted therapeutic strategy for mitigating ulcerative colitis.

Journal of drug targeting
2026

[STAT1 gain-of-function mutation leading to disseminated Talaromyces marneffei infection combined with hemophagocytic syndrome: a case report].

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases
2026

High-risk atherosclerotic plaque features, covert brain infarcts, and cognitive performance: a cross-sectional analysis of the carotid artery multi-modality imaging prognostic study.

European journal of preventive cardiology
2026

Molecular landscape connecting complications of dry eye disease: mechanisms, therapeutic targets, biomarkers, and future innovations.

International ophthalmology
2025

Unmasking Wiskott-Aldrich Syndrome in Adulthood in a Case of Long-Standing Bleeding, Infections, and Steroid-Induced Morbidity.

Cureus
2026

Rapunzel Syndrome Complicated by Cholecystoduodenal Fistula Secondary to Biliary Compression: A Case Report of a Patient With Cerebral Palsy.

Cureus
2025

Severe Recurrent Gastrointestinal Bleeding and Diagnostic Dilemmas in Zollinger-Ellison Syndrome: A Case Report.

GE Portuguese journal of gastroenterology
2026

Cutaneous Toxicities of Small Molecules in Targeted Cancer Therapy Part I - Mechanisms of Toxicity.

Journal of the American Academy of Dermatology
2026

Cutaneous Toxicities of Small Molecules in Targeted Cancer Therapy Part II - Approach to Management and Treatment.

Journal of the American Academy of Dermatology
2026

Behçet's Disease: A Comprehensive Overview of Symptoms, Pathology, Genetics, and Treatment.

Journal of mother and child
2026

Long-term efficacy following venous stenting for symptomatic iliofemoral venous obstruction: 5 year clinical and stent outcomes in a Southeast Asian population.

Journal of vascular surgery. Venous and lymphatic disorders
2026

Clinical distribution patterns and histopathological features of 2016 cases of basal cell carcinoma: a retrospective study from Southwest China.

European journal of medical research
2026

Shared genetic architecture between schizophrenia and gastrointestinal diseases: insights from large-scale genome-wide cross-trait analysis.

Annals of general psychiatry
2026

Juvenile Behçet's disease 2014-2024: multicenter study in Colombia.

Pediatric rheumatology online journal
2026

[Adult Kawasaki disease: A diagnostic case report].

Annales de pathologie
2026

Metabolic profiling of Gegen-Qinlian Decoction and its modified formula in gut microbiota from healthy individuals and ulcerative colitis patients with different syndromes using UHPLC-QTOF-MS/MS and an in vitro incubation model.

Journal of pharmaceutical and biomedical analysis
2026

A Case of Ulcerative Colitis Combined with Pulmonary Air Leak Syndrome.

Digestive diseases and sciences
2025

Changes in Fitness Parameters in Ridden Trained Showjumping Horses After Healing of Gastric Ulcers: Preliminary Results.

Veterinary sciences
2026

Insulin Resistance in Systemic Sclerosis: Decoding Its Association with Severe Clinical Phenotype.

Journal of clinical medicine
2026

Efficacy and Safety of HAIC Combined with PD-(L)1 Inhibitors and Bevacizumab Versus HAIC with PD-(L)1 Inhibitors and TKIs in Advanced Hepatocellular Carcinoma: A Retrospective Cohort Study.

Cancers
2026

Geriatric Syndromes and Mortality Among Hospitalized Older Adults.

JAMA network open
2026

A Case-Based Literature Review of RELA Associated Inflammatory Diseases.

Journal of clinical immunology
2026

[Pathology of the digestive system organs in post-COVID syndrome according to autopsy data from 2021-2024].

Arkhiv patologii
2026

Endoscopic Progression of Gastric DLBCL in an HIV-Positive Patient: A Case Report and Literature Review.

Reviews on recent clinical trials
2026

[Comparison of outcomes between emergency surgery and conservative treatment for acute type A aortic intramural hematoma].

Zhonghua yi xue za zhi
2026

Ex Vivo Human Colonic Explants Identify Metabolic Alterations and Cytokine Dysregulation in Ulcerative Colitis: A Pilot Study.

Digestive diseases and sciences
2025

Epidemiology of metabolic syndrome in patients with inflammatory bowel disease: a population-level cohort study from the United States.

Annals of gastroenterology
2026

Esophageal Perforation in Zollinger-Ellison Syndrome: A Scoping Review of Management and Outcomes.

JGH open : an open access journal of gastroenterology and hepatology
2026

Tuberculosis Masquerading as Behcet's Disease-Pseudo Bechet's Syndrome: A Case-Based Review of Literature.

Respirology case reports
2025

Mycobacterium haemophilum Infection in a Patient With Systemic Lupus Erythematosus and Antisynthetase Syndrome: A Case Report and Literature Review.

Cureus
2026

Clinical Effectiveness and Safety of Chinese Herbal Enema for Ulcerative Colitis: An Evidence-Based Study.

The American journal of Chinese medicine
2026

A case of invasive lobular breast cancer mimicking occult gastric metastasis and atypical paraneoplastic syndrome eight years postoperatively.

Discover oncology
2026

A case of tubulointerstitial nephritis with infiltration of neutrophils and interleukin-17-positive cells associated with Behçet's disease.

CEN case reports
2026

Acute neurological Behçet's disease complicated by a syndrome of inappropriate secretion of antidiuretic hormone.

BMJ case reports
2026

When Textbook Meets Reality: A Rare Case of Boerhaave's Syndrome With Mackler's Triad.

Journal of investigative medicine high impact case reports
2026

Reshaping the cardiovascular continuum in the management of arterial and venous cardiovascular disease: a narrative review.

Journal of comparative effectiveness research
2026

CD40-CD40L inhibition attenuates platelet-neutrophil interaction and neutrophil extracellular trap release in primary antiphospholipid syndrome.

Annals of the rheumatic diseases
2025

A Geriatric Case of Tourniquet-Like Foot Scarring Caused by Loose Woolen Stockings Successfully Treated at Home.

Cureus
2026

Unmasking Mycobacterium avium: two case reports of cutaneous lesions in HIV patients after initiation of an integrase inhibitor-based regimen.

BMC infectious diseases
2026

Association between pressure ulcers and malnutrition in hospitalized geriatric patients.

Zeitschrift fur Gerontologie und Geriatrie
2026

Behçet-like Syndromes: A Comprehensive Review.

Dermatopathology (Basel, Switzerland)
2025

Comparison of granule and traditional decoction of Gancao Xiexin for cold-heat complex pattern recurrent oral ulcer: a randomized controlled trial.

Frontiers in pharmacology
2026

Orthodontic Appliance-Related Mucosal Ulcerations in Newborns and Infants With Craniofacial Disorders.

Clinical and experimental dental research
2026

Disease-modifying efficacy of alginate-microencapsulated probiotics in an animal model of ulcerative colitis.

Archives of microbiology
2026

[A Case of Perforated Ileum Due to Gangrenous Ischemic Enteritis after Cardiopulmonary Arrest with Diabetic Ketoacidosis and Hyperosmolar Hyperglycemic Syndrome].

Gan to kagaku ryoho. Cancer &amp; chemotherapy
2026

ACE2 expression by colonic epithelial cells is associated with viral infection, immunity, and energy metabolism.

Scientific reports
2026

Multimodal imaging of acquired aortic diseases: clinical efficacy, comparative analysis, and future perspectives.

The international journal of cardiovascular imaging
2026

Influence of Tripterygium wilfordii Hook F and Caulis Sinomenii with traditional Chinese medicine directed drug delivery on CD3+, CD4+, CD8+ and joint function in rheumatoid arthritis patients.

Pakistan journal of pharmaceutical sciences
2026

IGF2BP stabilizes RNF34 mRNA to orchestrate apoptosis and host susceptibility to Vibrio splendidus in Apostichopus japonicus.

Fish &amp; shellfish immunology
2025

Multiple Endocrine Neoplasia Type 1 Presenting as Recurrent Overt Gastrointestinal Bleeding and Ulceration: A Diagnostic Challenge.

Cureus
2025

Case report: Secondary peristomal cutaneous squamous cell carcinoma following multimodal treatment for rectal cancer.

International journal of surgery case reports
2026

PHARMACOLOGICAL TREATMENTS FOR FATIGUE IN INFLAMMATORY BOWEL DISEASE PATIENTS: AN INTEGRATIVE REVIEW.

Arquivos de gastroenterologia
2025

Epidemiology of Macrovascular and Microvascular Complications Among Patients With Diabetes Mellitus in Primary Care in Bahrain.

Cureus
2026

Vonoprazan pharmacokinetics and effects on gastric pH following administration to fed and fasted horses.

Equine veterinary journal
2026

Periocular necrotizing sweet syndrome - a case series and review of literature.

Orbit (Amsterdam, Netherlands)
2026

Behçet-like intestinal disease in a patient with trisomy 8-associated myelodysplastic syndrome (TRIAD).

BMJ case reports
2026

Auto-brewery syndrome with Candida-associated gastric ulcers in a severely cachectic child.

Forensic science, medicine, and pathology
2025

A Presentation of Fungating Nevoid Basal Cell Carcinoma Syndrome.

Cureus
2025

A Rare Case of Severe Disseminated Pyoderma Gangrenosum of the Upper Body With Concurrent Nasopharyngeal and Inferior Orbital Wall Necrosis.

Cureus
2026

Occipital Extracranial Dermoid Cyst in a Neonate With Cardiofaciocutaneous Syndrome Type 4 (CFC4): A Case Report.

Clinical case reports
2026

Myelodysplastic Syndrome With Complex Chromosomal Karyotype Abnormalities Complicated by Multiple Intestinal Perforations: A Case Report and Literature Review.

Case reports in gastrointestinal medicine
2026

Nimbolide ameliorates ARDS and ulcerative colitis by disrupting NLRP3 inflammasome activation.

Communications biology
2026

Malabsorption Syndromes and Risk of Age-Related Macular Degeneration.

Ophthalmology. Retina
2025

Case Report of Wound Treatment with Hyiodine Gel in an Occasional KID Syndrome Patient.

Journal of clinical medicine
2026

Transient receptor potential channels as emerging therapeutic targets: mechanisms and therapeutic insights in inflammatory bowel disease.

Biochemical pharmacology
2026

Anterior Scleral Thickness in Rheumatoid Arthritis and Sjögren's Syndrome: A Comparative Analysis.

Ocular immunology and inflammation
2025

Trichobezoar Causing Obstruction of a Percutaneous Endoscopic Gastrostomy (PEG) Feeding Tube: A Case Report.

Cureus
2026

Efficacy and tolerability of switching from coated to compressed colchicine preparations in patients with Behçet's syndrome.

Rheumatology (Oxford, England)
2026

Pediatric case of trichobezoar leading to gastric perforation.

Radiology case reports
2026

Cytomegalovirus colitis in a woman with Sheehan syndrome.

QJM : monthly journal of the Association of Physicians
2026

Lactate dehydrogenase to albumin ratio as a convenient parameter for predicting the severity of Behçet disease: a cross-sectional study.

BMC immunology
2026

Efficacy and safety of low-dose interleukin 2 for Behçet's syndrome: a randomized, placebo-controlled, double-blind, phase 2 clinical trial.

Nature communications
2025

Clinical efficacy and mechanisms of hyperbaric oxygen therapy in the treatment of rheumatic and immune diseases.

Frontiers in medicine
2026

From the archives of MD Anderson Cancer Center: Paraneoplastic autoimmune multiorgan syndrome (PAMS) associated with stroma-rich Castleman disease.

Annals of diagnostic pathology
2026

The relationship between Braden Skin Score (BSS) and the risk of acute respiratory distress syndrome in elderly sepsis patients: An analysis based on the MIMIC-IV database.

PloS one
2025

[Gastro- Intestinal Complications in ICU Burn Patients].

Annals of burns and fire disasters
2026

Curcumin alleviates murine ulcerative colitis by modulating Tfh-B cell crosstalk via the CD40/CD40L costimulatory pathway.

The Journal of nutritional biochemistry
2026

Results of dedicated venous nitinol stents in treating chronic inferior vena cava occlusions.

Journal of vascular surgery. Venous and lymphatic disorders
2025

Atypical Calciphylaxis Following Parathyroidectomy and Persistent Severe Hypocalcemia in a Hemodialysis Patient: A Case Report.

Cureus
2025

Evaluation of a nutraceutical for prevention of equine ulcer recurrence.

Equine veterinary journal
2025

Inferior Gluteal Nerve Originating From the Common Fibular Nerve: A Histologically Validated Anatomical Variant With Clinical Implications.

Cureus
2026

Patient Outcomes Among Medicare Beneficiaries With Guillain-Barré Syndrome.

Journal of the peripheral nervous system : JPNS
2025

Curcumin Modulates TIGIT/Neuropilin-1 to Regulate T-Cell Immune Homeostasis in Ulcerative Colitis.

Foods (Basel, Switzerland)
2025

Dental Caries and Erosion in Children with Nephrotic Syndrome on Long-Term Liquid Medications-A Cross-Sectional Observational Study.

Journal of clinical medicine
2025

Current Medical Controversies in Zollinger-Ellison Syndrome.

Biomedicines
2025

Neutrophils: emerging perspectives on the pathogenesis of oral mucosal diseases.

Frontiers in cellular and infection microbiology
2025

Management of Severe Riga-Fede Disease in a Child With MIRAGE Syndrome.

Cureus
2025

Mid and Long-term Results of Endovascular Treatment of Thoracic Penetrating Aortic Ulcers.

Journal of endovascular therapy : an official journal of the International Society of Endovascular Specialists
2025

From bilateral pulmonary embolism to the final diagnosis of Behçet's disease: a rare case report.

Thrombosis journal
2025

Endovascular treatment of patients concurrent with type 3A aortic syndrome and degeneration (infrarenal) abdominal aortic aneurysm.

Journal of the Chinese Medical Association : JCMA
2025

Parasutterella excrementihominis exacerbates experimental colitis and colitis-associated colorectal cancer via pathogenic NETosis activation.

Gut
2026

Isotretinoin-related adverse sexual and reproductive outcomes: a real-world pharmacovigilance study of the FDA Adverse Event Reporting System (FAERS).

Cutaneous and ocular toxicology
2025

First documented isolation of Diutina mesorugosa (Candida mesorugosa) from a clinical sample in Argentina.

Revista Argentina de microbiologia
2026

Aortic Arch Morphology as a Predictor of Dissection Type: Unveiling the Hidden Link.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2025

Outcomes Following Iliac Vein Stenting for Non-Thrombotic Iliac Vein Lesions-A Narrative Review Based on Large Sample Studies.

Journal of functional biomaterials
2025

Investigating the Causal Relationship and Shared Genetic Basis Between Major Depression Disorder and Eight Types of Gastrointestinal Diseases.

Genetics research

Associações

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Impact of Post-Transplant Cyclophosphamide on the Prognostic Value of HCT-CI.
    Transplantation and cellular therapy· 2026· PMID 41864573mais citado
  2. Current and emerging approaches to manage chronic inflammatory gut disorders.
    Frontiers in cellular and infection microbiology· 2026· PMID 41859463mais citado
  3. Prevalence of Latent and Active Tuberculosis Infection in Inflammatory Bowel Disease Patients Who Received Biological Treatment.
    The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology· 2026· PMID 41846472mais citado
  4. Magnesium Deficiency Accelerates Gut Aging and Increases Susceptibility to Colitis.
    Aging cell· 2026· PMID 41837770mais citado
  5. Extensive Oral Ulcerations After Stem Cell Transplant.
    JAMA oncology· 2026· PMID 41817515mais citado
  6. A de novo SALL4 mutation causes unilateral renal agenesis by misregulating genes involved in kidney development.
    Orphanet J Rare Dis· 2025· PMID 40483479recente
  7. Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.
    Orphanet J Rare Dis· 2022· PMID 35379254recente
  8. Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.
    Orphanet J Rare Dis· 2021· PMID 34930372recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:3350(Orphanet)
  2. OMIM OMIM:190310(OMIM)
  3. MONDO:0008591(MONDO)
  4. GARD:3948(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55781570(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.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Compêndio · Raras BR

Síndrome de tremor-nistagmo-úlcera duodenal

ORPHA:3350 · MONDO:0008591
Prevalência
<1 / 1 000 000
Casos
17 casos conhecidos
CID-10
G25.0 · Tremor essencial
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1860860
Repurposing
1 candidato
tridihexethylacetylcholine receptor antagonist
Wikidata
Evidência
🥉 Relato de caso
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