Raras
Buscar doenças, sintomas, genes...
Doença hemorrágica relacionada com a trombomodulina
ORPHA:436169CID-10 · D68.3CID-11 · 3B21.0OMIM 614486DOENÇA RARA
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Doença hemorrágica rara autossômica dominante, com início na idade adulta, caracterizada por hipercoagulabilidade, levando a episódios de embolia pulmonar e trombose venosa profunda. Causada por mutações no gene THBD.

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
15
pacientes catalogados
Início
All ages
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D68.3
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🩸
Sangue
1 sintomas
🫁
Pulmão
1 sintomas

+ 3 sintomas em outras categorias

Características mais comuns

100%prev.
Início na idade adulta
Frequência: 2/2
50%prev.
Trombose venosa profunda
Muito frequente (~50%)
50%prev.
Embolia pulmonar
Muito frequente (~50%)
Hipercoagulabilidade
Herança autossômica dominante
5sintomas
Muito frequente (1)
Frequente (2)
Sem dados (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 5 características clínicas mais associadas, ordenadas por frequência.

Início na idade adultaAdult onset
Frequência: 2/2100%
Trombose venosa profundaDeep venous thrombosis
Muito frequente (~50%)50%
Embolia pulmonarPulmonary embolism
Muito frequente (~50%)50%
HipercoagulabilidadeHypercoagulability
Herança autossômica dominanteAutosomal dominant inheritance

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026184 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

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.

THBDThrombomodulinDisease-causing germline mutation(s) (gain of function) inDesconhecido
FUNÇÃO

Endothelial cell receptor that plays a critical role in regulating several physiological processes including hemostasis, coagulation, fibrinolysis, inflammation, and angiogenesis (PubMed:10761923). Acts as a cofactor for thrombin activation of protein C/PROC on the surface of vascular endothelial cells leading to initiation of the activated protein C anticoagulant pathway (PubMed:29323190, PubMed:33836597, PubMed:9395524). Also accelerates the activation of the plasma carboxypeptidase B2/CPB2, w

LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (2)
Common Pathway of Fibrin Clot FormationCell surface interactions at the vascular wall
MECANISMO DE DOENÇA

Thrombophilia due to thrombomodulin defect

A hemostatic disorder characterized by a tendency to thrombosis.

EXPRESSÃO TECIDUAL(Ubíquo)
Skin Sun Exposed Lower leg
112.0 TPM
Pulmão
110.4 TPM
Skin Not Sun Exposed Suprapubic
108.2 TPM
Artéria coronária
91.3 TPM
Aorta
87.3 TPM
OUTRAS DOENÇAS (3)
thrombomodulin-related bleeding disorderatypical hemolytic uremic syndrome with complement gene abnormalityatypical hemolytic-uremic syndrome with thrombomodulin anomaly
HGNC:11784UniProt:P07204

Variantes genéticas (ClinVar)

56 variantes patogênicas registradas no ClinVar.

🧬 THBD: NM_000361.3(THBD):c.563C>T (p.Ala188Val) ()
🧬 THBD: NM_000361.3(THBD):c.1440_1441del (p.Cys480_Asp481delinsTer) ()
🧬 THBD: NM_000361.3(THBD):c.127del (p.Ala43fs) ()
🧬 THBD: NM_000361.3(THBD):c.459G>A (p.Trp153Ter) ()
🧬 THBD: NM_000361.3(THBD):c.920C>A (p.Ser307Ter) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 205 variantes classificadas pelo ClinVar.

205
VUS (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
THBD: NM_000361.3(THBD):c.1474T>G (p.Ser492Ala) [Uncertain significance]
THBD: NM_000361.3(THBD):c.1420C>G (p.Arg474Gly) [Uncertain significance]
THBD: NM_000361.3(THBD):c.317G>A (p.Arg106His) [Uncertain significance]
THBD: NM_000361.3(THBD):c.1214A>C (p.Gln405Pro) [Uncertain significance]
THBD: NM_000361.3(THBD):c.1149A>C (p.Gln383His) [Uncertain significance]

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Doença hemorrágica relacionada com a trombomodulina

🗺️

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.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Non-cirrhotic portal-splenic-mesenteric vein thrombosis unmasking JAK2 V617F-positive polycythemia vera.

Clinical journal of gastroenterology2026 Mar 23

Este caso descreve um homem com tromboses extensas e simultâneas nas veias do abdômen (portal, esplênica e mesentérica superior), que não eram causadas por cirrose. Essa condição rara e grave "desmascarou" uma policitemia vera (PV) subjacente, uma doença sanguínea que estava previamente oculta ou "mascarada" pela deficiência de ferro. Para pacientes, o aparecimento de dor abdominal intensa e tromboses não explicadas pode ser um sinal de uma condição hematológica séria como a PV; para médicos, este caso ressalta a importância de investigar a PV com testes específicos (JAK2 V617F e eritropoietina) em pacientes com trombose venosa esplâncnica sem cirrose, permitindo um tratamento precoce com anticoagulantes e manejo da PV, que mostrou bons resultados.

🇧🇷 traduzido
#2

Development and Validation of a Novel Thrombosis Prediction Model for Adult Immune Thrombocytopenia (ITP-THROMBO).

Journal of blood medicine2026

Este artigo descreve o desenvolvimento de um novo modelo preditivo, o ITP-THROMBO, crucial para identificar pacientes adultos com trombocitopenia imune (PTI) que correm maior risco de desenvolver trombose, apesar da condição ser caracterizada por sangramento. O modelo utiliza fatores como fibrilação atrial, histórico de eventos trombóticos/cerebrovasculares, doença vascular periférica, pneumonia recente e níveis de D-dímero, permitindo uma avaliação rápida e robusta do risco. Para médicos e pacientes, esta ferramenta é fundamental para facilitar a tomada de decisões personalizadas sobre o tratamento, ajudando a equilibrar a prevenção de hemorragias e tromboses em pacientes com PTI. *(Nota: O resumo foi focado no artigo fornecido, "ITP-THROMBO", pois o conteúdo não mencionava "Thrombomodulin-related bleeding disorder".)*

🇧🇷 traduzido
#3

Gastric outlet obstruction secondary to Peutz-Jeghers syndrome successfully managed by polypectomy.

Clinical journal of gastroenterology2026 Mar 17

O artigo fornecido descreve um caso de obstrução da saída gástrica em um bebê de 1 ano com Síndrome de Peutz-Jeghers (PJS), causada por um pólipo, e não aborda especificamente distúrbios hemorrágicos relacionados à trombomodulina. Para pacientes e médicos, o estudo destaca que a PJS pode se manifestar precocemente, com sintomas como vômitos e sangramento, sendo o ultrassom e a série gastrointestinal ferramentas úteis para o diagnóstico da obstrução. Além disso, a remoção do pólipo por via endoscópica demonstrou ser uma alternativa segura e eficaz à cirurgia em casos de pólipos que causam obstrução em PJS.

🇧🇷 traduzido
#4

Case Report: Ataxia telangiectasia with severe hemorrhagic cystitis.

Frontiers in pediatrics2026

Este relato descreve um caso de Ataxia Telangiectasia (AT) em um menino de 12 anos que desenvolveu **cistite hemorrágica grave e recorrente** após quimioterapia para leucemia, causada por novas variantes genéticas no gene ATM. A condição foi associada a **lesões telangiectáticas na bexiga**, confirmadas por cistoscopia, e o sangramento foi controlado por eletrocoagulação. Médicos e pacientes com AT devem estar cientes do **risco de cistite hemorrágica tardia e potencialmente fatal**, especialmente após exposição a quimioterápicos como a ciclofosfamida, sendo a cistoscopia essencial para diagnóstico e manejo.

🇧🇷 traduzido
#5

Deleterious NKAP Mutations Are Associated with Musculoskeletal Abnormalities in Hemizygous Males and Skewed X Chromosome Inactivation in Heterozygous Females.

International journal of molecular sciences2026 Mar 02

Este estudo mostra que mutações no gene NKAP causam anomalias musculoesqueléticas, como hipotonia, em homens. Em mulheres, essas mutações levam a uma inativação do cromossomo X (XCI) significativamente desequilibrada, o que pode fazer com que doenças ligadas ao X, como a hemofilia A, se manifestem em portadoras, pois as células com o cromossomo X contendo a mutação NKAP ativa são desfavorecidas. Isso é crucial para o diagnóstico e aconselhamento genético, tanto para problemas musculoesqueléticos em homens quanto para entender a manifestação de doenças ligadas ao X em mulheres.

🇧🇷 traduzido

Publicações recentes

📚 EuropePMCmostrando 199

2026

Non-cirrhotic portal-splenic-mesenteric vein thrombosis unmasking JAK2 V617F-positive polycythemia vera.

Clinical journal of gastroenterology
2026

Case Report: Differential diagnosis and clinical management of isolated prolonged activated partial thromboplastin time.

Frontiers in immunology
2026

Development and Validation of a Novel Thrombosis Prediction Model for Adult Immune Thrombocytopenia (ITP-THROMBO).

Journal of blood medicine
2026

Ultrasound signs of adenomyosis in pregnancy and counselling related to infertility and obstetric outcomes.

Minerva obstetrics and gynecology
2026

A Longitudinal Imaging and Clinical Data Workflow Identifies Potential Time-Dependent Risk Factors for Post-Subarachnoid Hemorrhage Epilepsy.

Neurocritical care
2026

Phlegmasia Cerulea Dolens Secondary to Iliac Vein Compression From Posttransplant Hematoma Despite Anticoagulation.

Ochsner journal
2026

Polycystic ovary syndrome and risk of endometrial hyperplasia and endometrial cancer in women with abnormal uterine bleeding: A systematic review and meta-analysis.

Biomolecules &amp; biomedicine
2026

[Prediction of High-Risk Factors for Survival Outcomes in Children Undergoing Massive Intraoperative Blood Transfusion].

Zhongguo shi yan xue ye xue za zhi
2026

Efficacy and safety of TPO-RA combined with sirolimus in the treatment of relapsed immune thrombocytopenia.

Hematology (Amsterdam, Netherlands)
2026

Gastric outlet obstruction secondary to Peutz-Jeghers syndrome successfully managed by polypectomy.

Clinical journal of gastroenterology
2026

Endotheliopathy within the thromboinflammatory network of sepsis-induced coagulopathy.

Inflammation research : official journal of the European Histamine Research Society ... [et al.]
2025

[Damage control resuscitation in severe pediatric trauma. Part I: Limited crystalloids administration, permissive hypotension, balanced transfusion in hemostatic resuscitation].

Andes pediatrica : revista Chilena de pediatria
2026

Preceding Infections and Coagulation Biomarkers in Early-Onset Cryptogenic Ischemic Stroke.

Stroke
2026

Case Report: Ataxia telangiectasia with severe hemorrhagic cystitis.

Frontiers in pediatrics
2026

Case Report: Endothelial-targeted bridging therapy for a TTP-like phenotype in fulminant iMCD-TAFRO.

Frontiers in immunology
2026

Low-dose mifepristone for the management of refractory heavy menstrual bleeding in women with bleeding disorders: a retrospective study.

BMC women's health
2026

Glycoside Compounds from Blood-Nourishing Chinese Medicinal Herbs: Structural Characteristics, Pharmacological Mechanisms, and Therapeutic Potential for Thrombocytopenia.

Molecules (Basel, Switzerland)
2026

Deleterious NKAP Mutations Are Associated with Musculoskeletal Abnormalities in Hemizygous Males and Skewed X Chromosome Inactivation in Heterozygous Females.

International journal of molecular sciences
2026

Genotype-Specific Postural Control Deficits in Hemophilia A: Insights from Center of Pressure Analysis Beyond Radiographic Arthropathy.

International journal of molecular sciences
2026

Prevalence and influence of cardiovascular kidney metabolic syndrome on outcomes after transcatheter aortic valve implantation.

European journal of heart failure
2026

Aortoesophageal fistula from an ingested large hand needle in a nonverbal adult with autism.

Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma &amp; emergency surgery : TJTES
2026

Novel compound heterozygous mutation of the KNG1 gene associated with severe HMWK deficiency in a Chinese pedigree.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2026

Neonatal Glanzmann's Thrombasthenia Presenting as Refractory Post-circumcision Hemorrhage in a Region of High Consanguinity: A Case Report.

Cureus
2026

[Acquired hemophilia A secondary to marginal zone lymphoma].

Revue medicale de Liege
2026

Phase 1 pilot study for hemophilia-A: AAV8 vector with prophylactic tacrolimus-glucocorticoid achieves therapeutic FVIII activity.

Signal transduction and targeted therapy
2026

Transfusing HPA-mismatched platelets to mimic fetomaternal hemorrhage elicits fetal/neonatal alloimmune thrombocytopenia.

Blood
2026

Regional variations and trends in hemophilia prevalence: A global analysis with future projection.

PLOS global public health
2025

[Molecular pathogenesis of a novel p.Cys467Tyr missense variant underlying Hereditary factor Ⅻ deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2026

Untargeted Proteomics Profiling of Liver and Plasma in Fed and Fasted Liver-Specific Glycogen Storage Disease Type Ia (GSD Ia) Mice: Toward Potential Protein Biomarkers.

Journal of inherited metabolic disease
2026

National Bleeding Disorder Foundation Clinical Practice Recommendations for Laboratory Screening of Iron Deficiency With and Without Anemia in the Inherited Bleeding Disorders Population.

Haemophilia : the official journal of the World Federation of Hemophilia
2026

Heyde syndrome secondary to hypertrophic obstructive cardiomyopathy: a case report.

The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology
2026

Subclinical Cardiac Diseases and the Role of Extracellular Vesicles in Patients with Hemophilia A Treated on-Demand.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
2026

A Novel Homozygous ITGA2B Variant Associated With Recurrent Epistaxis in a Four-Year-Old Girl: A Case Report.

Cureus
2026

Upper Gastrointestinal Bleeding Due to Ruptured Gastric Varices: A Diagnostic Challenge.

Cureus
2026

Platelet dense granule defect: experience in the French population.

Research and practice in thrombosis and haemostasis
2026

Adaptive immune and platelet activation during the maintenance phase of therapy in adults with B cell acute lymphoblastic leukemia.

Platelets
2026

Enhanced Peripartum Hemostatic Management Does Not Decrease Postpartum Hemorrhage Incidence in Hemophilia Carriers: the Pregnancy and Inherited Bleeding Disorders study (PRIDES).

Journal of thrombosis and haemostasis : JTH
2026

Excessive intraoperative hemorrhage during orthognathic surgery in a patient with neurofibromatosis type 1: a case report and literature review.

Oral and maxillofacial surgery
2026

Case Report: Co-Occurrence of Lung Adenocarcinoma and Congenital Dysfibrinogenemia-Diagnostic and Perioperative Management Challenges.

Cancer reports (Hoboken, N.J.)
2026

Delayed acute respiratory distress syndrome and sepsis-associated disseminated intravascular coagulation following aluminium phosphide poisoning.

BMJ case reports
2026

Inherited Bleeding Disorders in Pregnancy: Obstetric Management and Outcomes From a Tertiary Care Centre.

Haemophilia : the official journal of the World Federation of Hemophilia
2026

Kinesiophobia in Parents of Children with Haemophilia.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2026

Influence of Psychiatric Comorbidities on Outcomes in Cirrhosis: A Propensity-Matched Cohort Analysis.

Gastroenterologia y hepatologia
2026

An Interesting Case of Hereditary Hemorrhagic Telangiectasia in a Patient with Recurrent Epistaxis.

Annals of African medicine
2026

Factors Influencing Sport-Induced Bleeding in Patients With Haemophilia Without Inhibitors: A Single Centre Retrospective Study of People Born in the 2000s.

Haemophilia : the official journal of the World Federation of Hemophilia
2026

Timely Diagnosis and Management in Adult Patients With Ehlers-Danlos Syndrome Experiencing Gynaecological Bleeding.

Haemophilia : the official journal of the World Federation of Hemophilia
2026

Comparative Efficacy and Safety of Non-Clotting Factor Prophylaxis Versus. on-Demand Therapy in Hemophilia: A Meta-Analysis of Randomized Controlled Trials.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
2026

Current Status of Clinical Gene Therapy for Hemophilia and Globin Disorders.

Journal of blood medicine
2026

COVID-19-Associated Acquired Hemophilia A With an Exceptionally High Inhibitor Titer: A Case of Remission and Overwhelming Sepsis.

Cureus
2026

Multicenter survey on viscoelastic assays access and use in trauma in Swiss emergency departments.

European journal of trauma and emergency surgery : official publication of the European Trauma Society
2026

Duplication of the prothrombin gene is associated with a significant increase in thrombin generation.

Research and practice in thrombosis and haemostasis
2026

Propofol and/or etomidate-induced immune thrombocytopenia: A case report.

Hematology (Amsterdam, Netherlands)
2026

Machine learning estimation of FVIII pharmacokinetic parameters in Chinese children with severe Hemophilia A.

NPJ systems biology and applications
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

Neonatal Sepsis-Induced Coagulopathy: An Evolving Frontier at the Crossroads of Inflammation and Hemostasis.

Seminars in thrombosis and hemostasis
2026

Safety of recombinant thrombomodulin during percutaneous transhepatic gallbladder drainage in patients with biliary tract infections and disseminated intravascular coagulation: A retrospective cohort study.

Medicine
2026

A Novel Autoimmune Presentation of Wiskott-Aldrich Syndrome: Type 1 Diabetes.

Immunity, inflammation and disease
2026

Preoperative Hemostatic Management for Refractory Abnormal Uterine Bleeding in Patients With von Willebrand Disease: A Case Report.

Case reports in obstetrics and gynecology
2026

Glucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease.

International journal of molecular sciences
2026

Vitamin K Prophylaxis in Newborns: A Narrative Review of the Molecular Basis, Clinical Evidence, and Comparative Effectiveness of Intramuscular Versus Oral Administration and Parental Hesitation.

International journal of molecular sciences
2026

The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.

Genes
2026

Diagnostic Potential of Metabolomic and Proteomic Biomarkers in Cardiology-A Narrative Review.

Biomedicines
2026

Group A β-hemolytic streptococcus causing purpura fulminans: two case reports.

Frontiers in immunology
2026

Understanding Treatment Care and Delays in Acquired Hemophilia A: A Population-Based Study From Nova Scotia, Canada.

EJHaem
2026

Age-driven shifts in T and NK cell responses amplify inflammation and coagulopathy during viral infection in mice and humans.

Frontiers in immunology
2026

Unmasking a Rare Genetic Puzzle: Hereditary Hemorrhagic Telangiectasia in a Black Kenyan Woman: A Case Report.

Case reports in gastrointestinal medicine
2026

Bleeding assessment tools and quality of life in bleeding disorder of unknown cause.

Research and practice in thrombosis and haemostasis
2026

Factor-VIII mimetic bispecific antibodies for the treatment of hemophilia A: an update.

Expert review of clinical pharmacology
2026

Efficacy and Safety of Rituximab as Frontline Therapy for Eradication of Inhibitors in Congenital Haemophilia A.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2026

Clinicopathological Spectrum of Functional Platelet Disorders Diagnosed Using Light Transmission Aggregometry.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2026

Multicentre development and validation of a risk model integrating immunotherapy and coagulation biomarkers for thrombosis in autoimmune neurological disorders.

International immunopharmacology
2026

Image-guided puncture drainage as a first-line management for postoperative abscess following head and neck reconstruction: A case series.

Auris, nasus, larynx
2026

Exercise Programmes for People With Haemophilia: A Scoping Review.

Haemophilia : the official journal of the World Federation of Hemophilia
2026

Intravascular Rewarming in Major Burns: A Rare but Serious Catheter-Related Complication.

European burn journal
2026

Exploring gene editing as a potential therapeutic strategy for hemophilia.

Frontiers in bioengineering and biotechnology
2026

An ultra-expansible chitosan-silk fibroin miniaturized sponge loaded with tranexamic acid modified gelatin for coagulation abnormalities.

Carbohydrate polymers
2026

Peripartum management of caesarean delivery in type 2 von Willebrand disease.

BMJ case reports
2026

GTH 2026: Connected Science - Advanced Solutions.

Hamostaseologie
2026

A Multifactorial Case of Acquired Hemophilia A.

Cureus
2026

Unveiling the Invisible: A Case of Canine Diffuse Microscopic Pancreatic Adenocarcinoma With Normal Imaging and Gross Appearance of the Pancreas Complicated by Sterile Peritonitis and Disseminated Intravascular Coagulation.

Veterinary medicine and science
2026

Hereditary Antithrombin Deficiency in Pediatric Patients: Pathophysiology, Clinical Features, Diagnosis, and Antithrombin Replacement Therapy.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
2026

A Potential Case of Tetanus-Diphtheria Vaccine-Induced Immune Thrombocytopenia.

Cureus
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

Thrombin Generation Assays: Possibilities and Limitations.

Hamostaseologie
2026

Von Willebrand Factor at the Crossroads of Hemostasis and Inflammation.

Hamostaseologie
2026

Severe hemophilia A with inhibitors and pancreatic cancer - when emicizumab is not enough.

Blood transfusion = Trasfusione del sangue
2026

Rare inherited autosomal bleeding disorders in women: sex-related bleeding, pregnancy and delivery. A narrative review.

Blood transfusion = Trasfusione del sangue
2026

The emerging role of complement inhibitory approaches in the treatment of acute sickle cell disease complications.

Expert review of hematology
2026

One Health horsepower in hemostasis: SEL1Lecting stable platelet adhesion.

The Journal of clinical investigation
2026

ER-associated degradation pathway protein SEL1L plays an evolutionarily conserved role in platelet adhesion.

The Journal of clinical investigation
2026

Recombinant von Willebrand factor for von Willebrand disease: mechanism of action and clinical application.

Therapeutic advances in hematology
2026

Refractory Intrahepatic Cholestasis of Pregnancy in Twin Gestation Managed With Ursodeoxycholic Acid and Adjunctive Cholestyramine: A Case Report.

Cureus
2026

Neuraxial Anesthesia in a Parturient With Newly Diagnosed Klippel-Trenaunay Syndrome: A Case Report.

Cureus
2026

Uterine rupture in the second trimester with fetal demise.

BMJ case reports
2026

Refractory Primary Immune Thrombocytopenia With Bleeding and Thrombosis: A Case Report.

The American journal of case reports
2026

Malignant renovascular hypertension consequent to IgA vasculitis in a young male patient: a case report.

Journal of medical case reports
2026

Challenges in Balancing Hemostasis and Thrombosis in Therapy Tailoring for Hemophilia: A Narrative Review.

International journal of molecular sciences
2026

Effect of a truncated mutant factor V on hemostatic function and embryonic development in mice.

Scientific reports
2026

Immunopathology of immune thrombocytopenia.

Journal of thrombosis and haemostasis : JTH
2026

Clinical Spectrum, Subtype Distribution, and Treatment Outcomes in von Willebrand Disease: A Prospective Study from a Hemophilia Treatment Center in Pakistan.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
2026

The Genetic Link Between Primary Immune Thrombocytopenia and Depression/Anxiety Disorders: A Two-Sample Mendelian Randomization Study.

Journal of clinical laboratory analysis
2026

Successful Vaginal Delivery in a Pregnant Woman With Bernard-Soulier Syndrome: A Case Report.

Clinical case reports
2026

One-Year Outcome of Japanese Patients With Atrial Fibrillation: Insights From APHRS-AF Registry.

Journal of arrhythmia
2026

Relationships between bleeding assessment tools (ISTH-BAT, Self-BAT) and quality of life in patients with bleeding symptoms.

Research and practice in thrombosis and haemostasis
2026

Risk-stratified perioperative tranexamic acid utilization for total hip and knee arthroplasty: Analysis of trends of the past decade.

Bulletin of the Hospital for Joint Disease (2013)
2026

Severe venom-induced consumption coagulopathy, snakebite-associated thrombotic microangiopathy, and local necrosis following Western bush viper (Atheris chlorechis) envenoming in France.

Toxicon : official journal of the International Society on Toxinology
2026

Torque Teno Virus Levels During Viral Respiratory Infections: The Interplay With Immune Dysregulation and Coagulopathy Biomarkers.

Journal of medical virology
2026

Management of essential thrombocythaemia-associated toe ulcer with a novel topical macrophage-modulating cream containing extract of Plectranthus amboinicus.

Journal of wound care
2026

Bleeding from umbilicus in a neonate: exploring aetiologies of a common presentation.

BMJ case reports
2026

The MAPTO survey: worldwide approaches on unmasking factor VIII inhibitors in children with emicizumab treatment: communication from the ISTH SSC Subcommittee on Factor VIII, Factor IX and Rare Coagulation Disorders.

Journal of thrombosis and haemostasis : JTH
2025

Intestinal barrier compromise, viral persistence, and immune dysregulation converge on neurological sequelae in Long COVID.

Frontiers in aging neuroscience
2026

Early catheter-directed portal vein thrombolysis in myeloproliferative disorder-related diffuse mesenteric venous ischemia: A case report.

World journal of gastroenterology
2026

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

Journal of medical case reports
2026

Antiphosphatidylserine/prothrombin antibodies define a high-risk antiphospholipid syndrome profile associated with organ damage.

Clinical chemistry and laboratory medicine
2026

A Case Report on Emergency Medicine: Suspected Acquired Hemophilia A in an Older Adult Male.

Cureus
2026

Translational insights from nonclinical studies of AAV gene therapies for hemophilia: mechanisms underpinning variability and durability of gene expression.

Therapeutic advances in hematology
2026

[Immune-mediated thrombotic thrombocytopenic purpura successfully diagnosed and treated through repeated ADAMTS13 inhibitor testing].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2026

[Plasma-derived human protein C replacement concentrate therapy in a patient with severe congenital protein C deficiency presenting with purpura fulminans and disseminated intravascular coagulation].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2026

Explainable machine learning model for predicting traumatic brain injury-induced coagulopathy in elderly patients: A multicenter cohort study.

Neurosurgical review
2026

Hematologic malignancies in pediatric patients with RUNX1-Familial Platelet Disorder with Associated Myeloid Malignancy.

Blood advances
2026

Isolated Hepatic Hemangiomatosis Leading to Fatal Consumptive Coagulopathy in an Elderly Patient: A Case Report.

The American journal of case reports
2026

Investigation of the Suitability of the ROTEM Assay to Measure Coagulation Potential in Blood From Patients on Concizumab Prophylaxis.

Haemophilia : the official journal of the World Federation of Hemophilia
2026

Anti-beta2-glycoprotein I IgG antibodies are associated with early-onset cryptogenic ischemic stroke.

European stroke journal
2026

Hemophilia Severity and Its Association With Mental Health and Health-Related Quality of Life-Results From a Cross-Sectional Multicenter Study.

Haemophilia : the official journal of the World Federation of Hemophilia
2026

Complications of Chiropractic Manipulation in a Patient With Von Willebrand Disease: A Clinical Case Report and Literature Review.

Cureus
2025

Kyphoscoliotic Ehlers-Danlos syndrome associated with superior mesenteric artery aneurysm and abdominal aortic rupture: a case report.

Frontiers in pediatrics
2026

Complex Triple Deformity of the Knee Managed with Knee Arthrodesis in a Severe Hemophilia A Patient: A Case Report.

JBJS case connector
2026

[Management of thrombotic microangiopathy].

Revue medicale suisse
2026

De Novo MYH9-Related Macrothrombocytopenia in a Toddler: Insights From Platelet Mass Index.

British journal of hospital medicine (London, England : 2005)
2026

Aortic graft invasion into duodenum as an atypical pathergy phenomenon in vascular Behçet's disease.

Modern rheumatology case reports
2026

Endothelial thrombomodulin-Its role in trauma-induced coagulopathy.

Transfusion
2026

Development and internal validation of an interpretable machine learning model to predict coagulopathy following extracorporeal membrane oxygenation: a retrospective multicenter study.

Scandinavian journal of trauma, resuscitation and emergency medicine
2026

Focused ultrasound therapy for neurological disease.

Journal of medical ultrasonics (2001)
2026

Quantitative Evaluation of Coagulability in Obstetric DIC Using TEG6s for New Japanese Diagnostic Criteria of Obstetrical Disseminated Intravascular Coagulation.

The journal of obstetrics and gynaecology research
2026

Molecular Mechanisms of Factor IX Signal Peptide and Propeptide Mutations Underlying Hemophilia B.

Thrombosis and haemostasis
2025

Prevalence and clinical relevance of sarcopenia in Chinese patients with porto-sinusoidal vascular disorder.

Frontiers in medicine
2026

Enzyme-Responsive Hemostatic Elastin-like Polypeptides for Fibrin Stabilization and Coagulation Restoration in Thrombocytopenia.

Journal of the American Chemical Society
2026

Coagulation Abnormalities in Liver Cirrhosis: Diagnostic and Therapeutic Approaches.

Medicina (Kaunas, Lithuania)
2026

Construction of a nomogram prediction model for prolonged ICU length of stay in patients with sepsis-induced coagulopathy.

European journal of medical research
2026

Geriatric trauma coagulation profiles: Impact of sex on clot formation.

The journal of trauma and acute care surgery
2026

Suboptimal screening and correction of maternal iron deficiency anaemia in the general population and in inherited bleeding disorders: A population-based cohort study.

British journal of haematology
2026

The Effect of von Willebrand Disease on Platelet Adhesion Dynamics: Correlating a Multiscale Platelet Model to In Vitro Results.

IEEE transactions on bio-medical engineering
2026

Factor XIII Deficiency: A Review of Biology, Testing, and Treatment.

Clinical hematology international
2026

[Guideline for perioperative coagulation management in adult liver transplant recipients (2026 edition)].

Zhonghua wai ke za zhi [Chinese journal of surgery]
2026

Fibrinogen replacement to prevent intracranial hemorrhage in ischemic stroke patients after thrombolysis - a prospective randomized open blinded endpoint trial (FibER): rationale and methods.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
2026

Coagulation risk in sepsis patients with elevated lactate-to-albumin ratio: a retrospective cohort study.

BMC infectious diseases
2026

Diagnostic reassessment in myeloproliferative neoplasms: the value of functional iron parameters and JAK2 allelic burden.

Annals of hematology
2026

Perioperative factor XIII and viscoelastic measurements of open compared to minimal invasive major upper gastrointestinal surgery- A prospective observational study.

Thrombosis research
2026

The impact of coagulopathy on prognosis in critically ill patients with sepsis: A nationwide cohort study.

Journal of critical care
2025

[Microangiopathies thrombotiques].

La Revue du praticien
2025

Perioperative anesthesia management of high-molecular-weight kininogen deficiency: a case report and literature review.

Frontiers in medicine
2025

Transplanted gene-modified placental cells boost FVIII activity in pediatric sheep without eliciting immunity, toxicity, or adverse events.

Frontiers in immunology
2026

Experimental infection of horses with African horse sickness virus results in overt disseminated intravascular coagulation.

Equine veterinary journal
2026

HMB-002: A Monovalent Antibody that Elevates Circulating VWF and FVIII Levels for Treatment of Von Willebrand Disease.

Blood advances
2026

Immune thrombocytopenia in patients with connective tissue disease.

Clinical rheumatology
2026

Clinical characteristics and whole exome sequencing in JAK2V617F- and CALR-unmutated essential thrombocythemia.

Hematology (Amsterdam, Netherlands)
2026

Bernard-Soulier Syndrome: Identification of a Novel GP1BB Variant in a Mauritanian Patient.

Molecular genetics &amp; genomic medicine
2026

Effects of the space environment and re-adaptation to Earth's gravity on astronauts' plasma proteome.

Life sciences in space research
2026

Redefining hemophilia management: treatment goals, nonfactor replacement therapies, and the role of fitusiran.

The American journal of managed care
2026

SARS-CoV-2 spike protein expression drives post-acute coagulopathy.

Journal of virology
2025

Case report: Epidermolysis bullosa acquisita following dipeptidyl peptidase-4 inhibitor therapy and complicated by immune thrombocytopenic purpura.

Frontiers in immunology
2026

Platelet function abnormalities in acquired hemophilia A.

Research and practice in thrombosis and haemostasis
2026

Immune repertoire profiling in immune thrombocytopenia: A path towards biomarkers, for The British Journal of Haematology.

British journal of haematology
2026

Long-term outcomes of blue light laser therapy for epistaxis in patients with hereditary hemorrhagic telangiectasia within a multimodal treatment concept.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2026

Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.

Scientific reports
2026

Mass Spectrometry-Based Proteomics to Understand Immune Thrombocytopenic Purpura: A Review.

Rapid communications in mass spectrometry : RCM
2026

Platelet count, fibrinogen and ROTEM® parameters predict deep vein thrombosis in elderly patients with femoral fracture.

Journal of anesthesia, analgesia and critical care
2026

Elevated IGF1R and abnormal methylated IGF1R in immune thrombocytopenia.

Annals of hematology
2026

Coagulation dysfunction in children with secondary hemophagocytic lymphohistiocytosis: a comprehensive analysis.

Annals of medicine
2026

Bone Health in Adults With Severe Haemophilia Receiving Different Prophylactic Treatments.

Haemophilia : the official journal of the World Federation of Hemophilia
2026

Evaluation of the Burden of Bone Fractures in People Living With Haemophilia: A Registry-Based Matched Cohort Study.

Haemophilia : the official journal of the World Federation of Hemophilia
2026

Metabolic Workup for Bone Stress Injury: A Practical Approach for Evaluating Bone Health in Athletes.

Sports health
2026

Establishing the clinical utility of integrated quasistatic acoustic tweezing thromboelastometry for blood coagulation analysis.

Journal of thrombosis and haemostasis : JTH
2025

[A Case Study of Severe Myelosuppression Induced by Adjuvant Chemotherapy in a Breast Cancer Patient with Concurrent Immune Thrombocytopenia(ITP)].

Gan to kagaku ryoho. Cancer &amp; chemotherapy
2026

Comparative analysis of whole blood clot viscoelastic properties via thromboelastography and plasma fibrin clot characteristics.

Thrombosis research
2026

A Case Report of Coagulation Factor XII Deficiency.

Clinical laboratory
2026

Comparative safety of drug therapies used in hemophilia A and B in Canada: a multi-center, retrospective study.

Research and practice in thrombosis and haemostasis
2026

From Hip Effusion to Hemophilia: Unveiling the Cause of Pain in 6-Month-Old Infant. A Case Report.

Journal of orthopaedic case reports
2026

CD34-positive circulating cells quantification during follow-up in myeloproliferative neoplasms.

Annals of hematology
2026

Spatiotemporal multi-omics profiling of secondary brain injury after intracerebral hemorrhage in an optimized autologous blood-induced mouse model with human tissue validation.

Experimental neurology
2026

Exploring the therapeutic potential of Anoectochilus roxburghii in glucose and lipid metabolism disorder: From phenotypic effects to molecular mechanisms and network pharmacology.

Journal of pharmaceutical and biomedical analysis
2026

The interleukin-1 receptor antagonist gene VNTR polymorphism confers a genetic contribution to the risk of immune thrombocytopenia purpura: A systematic review and meta-analysis.

Cytokine
2026

Improvements in pharmacokinetics, bleeding control, and cost analysis after PK-guided transition to extended-half-life factor IX in hemophilia B: A multicentric study.

Thrombosis research
2026

Impact of antiplatelet therapy on the hemostatic efficacy of platelet-targeted FVIII gene therapy in hemophilia A mice.

Blood advances
2026

Prognostic Impact of Alactic Base Excess in Critically Ill Patients with Sepsis-Associated Disseminated Intravascular Coagulation: A Retrospective Observational Study.

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

Deep Cerebral Vein Thrombosis Triggered by Contraceptive Use in a Woman with Non-Overt Essential Thrombocythemia.

Journal of Nippon Medical School = Nippon Ika Daigaku zasshi
2026

Predicting Chronicity in Children and Adolescents With Newly Diagnosed Immune Thrombocytopenia at the Timepoint of Diagnosis Using Machine Learning-Based Approaches.

Pediatric blood &amp; cancer
2026

Exploration of the Pathogenic Mechanism of the Factor XIII A Subunit in a Patient With Congenital Factor XIII Deficiency.

Molecular genetics &amp; genomic medicine
2026

Rare Bleeding Disorders: Strategy for Diagnosis and Management- A Tertiary Care Experience from North India.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2025

Complications and adverse outcomes related to induced abortion in female from the Ukrainian-Russian military conflict regions: A multicentre study.

Wiadomosci lekarskie (Warsaw, Poland : 1960)
2025

Evaluation of Autoimmune FVIII Inhibitor Using Clot Waveform Analysis in Emicizumab-Treated Patients.

Journal of clinical medicine
2025

Hyperfibrinolysis During Caesarean Section and Vaginal Delivery: A Prospective Cross-Sectional Study in the Delivery Room.

Journal of clinical medicine
2025

Comparative Analysis of Coagulation and Liver Parameters in Individuals with Alcohol and Substance Use Disorders and Healthy Controls.

Diagnostics (Basel, Switzerland)
2026

Impact of Exercise/Sport on Well-being in von Willebrand Disease and Other Congenital Bleeding Disorders: An Update.

Seminars in thrombosis and hemostasis
2025

A CASE OF REFRACTORY IRON DEFICIENCY ANEMIA REVEALING HEREDITARY HEMORRHAGIC TELANGIECTASIA.

Georgian medical news
2026

The Humanitarian and Medical Crisis in Palestinian Territories: The Plight of Patients With Congenital Bleeding Disorders and Health Care Under Siege.

Haemophilia : the official journal of the World Federation of Hemophilia
2026

Novel compound heterozygous ITGA2B mutations in Glanzmann thrombasthenia associated with adolescent osteoporosis.

Platelets
2026

Complement activation and altered fibrin clot properties in obstetric antiphospholipid syndrome: impact on thromboembolism and pregnancy.

Clinical rheumatology
2026

Real-World Effectiveness and Safety of Fostamatinib in Difficult-to-Treat Immune Thrombocytopenia Patients. A Prospective, Multicenter Registry in France.

American journal of hematology

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Doença hemorrágica relacionada com a trombomodulina.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Doença hemorrágica relacionada com a trombomodulina

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

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. Non-cirrhotic portal-splenic-mesenteric vein thrombosis unmasking JAK2 V617F-positive polycythemia vera.
    Clinical journal of gastroenterology· 2026· PMID 41870701mais citado
  2. Development and Validation of a Novel Thrombosis Prediction Model for Adult Immune Thrombocytopenia (ITP-THROMBO).
    Journal of blood medicine· 2026· PMID 41867385mais citado
  3. Gastric outlet obstruction secondary to Peutz-Jeghers syndrome successfully managed by polypectomy.
    Clinical journal of gastroenterology· 2026· PMID 41843399mais citado
  4. Case Report: Ataxia telangiectasia with severe hemorrhagic cystitis.
    Frontiers in pediatrics· 2026· PMID 41837192mais citado
  5. Deleterious NKAP Mutations Are Associated with Musculoskeletal Abnormalities in Hemizygous Males and Skewed X Chromosome Inactivation in Heterozygous Females.
    International journal of molecular sciences· 2026· PMID 41828556mais citado
  6. Circulating Platelet-Neutrophil Aggregates as Novel Biomarker for Coagulopathy Diagnosis and Disseminated Intravascular Coagulation Prediction in Sepsis.
    Mediators Inflamm· 2026· PMID 41869834recente
  7. Case Report: Differential diagnosis and clinical management of isolated prolonged activated partial thromboplastin time.
    Front Immunol· 2026· PMID 41869337recente
  8. Hypocoagulability among people living with HIV at Hoima Regional Referral Hospital, Western Uganda: a cross-sectional study.
    HIV Res Clin Pract· 2026· PMID 41863448recente
  9. Primary Sjögren's syndrome-associated immune thrombocytopenia: from pathogenesis to treatment.
    Front Immunol· 2026· PMID 41859115recente
  10. Thrombotic thrombocytopenic purpura in pregnancy: Lessons from a case series of three patients.
    J Int Med Res· 2026· PMID 41852235recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:436169(Orphanet)
  2. OMIM OMIM:614486(OMIM)
  3. MONDO:0013775(MONDO)
  4. GARD:17726(GARD (NIH))
  5. Variantes catalogadas(ClinVar)

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

Doença hemorrágica relacionada com a trombomodulina
Compêndio · Raras BR

Doença hemorrágica relacionada com a trombomodulina

ORPHA:436169 · MONDO:0013775
Prevalência
<1 / 1 000 000
Casos
15 casos conhecidos
Herança
Autosomal dominant
CID-10
D68.3 · Transtorno hemorrágico devido a anticoagulantes circulantes
CID-11
Início
All ages
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C3280976
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades