É uma doença hereditária que afeta as plaquetas, tornando-as maiores que o normal. Ela apresenta um conjunto de características variadas, incluindo trombocitopenia congênita (contagem baixa de plaquetas desde o nascimento), e pode, mais tarde, desenvolver perda de audição, catarata (que surge antes da velhice), aumento das enzimas do fígado e/ou uma doença nos rins que piora com o tempo (nefropatia progressiva), muitas vezes levando à falência renal terminal (DRCT), quando os rins param de funcionar. A síndrome de Epstein, a síndrome de Fechtner, a anomalia de May-Hegglin e a síndrome de Sebastian, que antes eram consideradas doenças separadas, são, na verdade, algumas das diferentes formas como a doença MYH9 (MYH9-RD) pode se manifestar.
Introdução
O que você precisa saber de cara
É uma doença hereditária que afeta as plaquetas, tornando-as maiores que o normal. Ela apresenta um conjunto de características variadas, incluindo trombocitopenia congênita (contagem baixa de plaquetas desde o nascimento), e pode, mais tarde, desenvolver perda de audição, catarata (que surge antes da velhice), aumento das enzimas do fígado e/ou uma doença nos rins que piora com o tempo (nefropatia progressiva), muitas vezes levando à falência renal terminal (DRCT), quando os rins param de funcionar. A síndrome de Epstein, a síndrome de Fechtner, a anomalia de May-Hegglin e a síndrome de Sebastian, que antes eram consideradas doenças separadas, são, na verdade, algumas das diferentes formas como a doença MYH9 (MYH9-RD) pode se manifestar.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 9 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 26 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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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.
Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. Required for cortical actin clearance prior to oocyte exocytosis (By similarity). Promotes cell motility in conjunction with S100A4 (PubMed:16707441). During cell spreading, plays an important role in cytoskeleton reorganization, focal contact formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanic
Cytoplasm, cytoskeletonCytoplasm, cell cortexCytoplasmic vesicle, secretory vesicle, Cortical granuleCell membrane
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
An autosomal dominant disorder characterized by thrombocytopenia, giant platelets and Dohle body-like inclusions in peripheral blood leukocytes with variable ultrastructural appearance. Some affected individuals lack leukocyte inclusion bodies on classic staining of peripheral blood smears. Alport syndrome-like features of nephritis, hearing loss, and eye abnormalities are present in some patients.
Variantes genéticas (ClinVar)
298 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
13 vias biológicas associadas aos genes desta condição.
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 — Trombocitopenia sindrômica MYH9-relacionada
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.
Publicações mais relevantes
Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.
Inherited platelet disorders (IPDs) comprise a heterogeneous group of rare conditions that present particular challenges during pregnancy, with bleeding risk increasing during labor and the immediate postpartum period. These disorders require coordinated, multidisciplinary management to mitigate maternal and neonatal bleeding risk. Although data remains limited, individuals with IPD, including Bernard-Soulier syndrome, Glanzmann thrombasthenia, MYH9-related disorders, Hermansky-Pudlak syndrome, and platelet storage pool disorders, are at an increased risk for obstetrical bleeding, with the degree of risk varying by underlying diagnosis. In severe inherited platelet disorders such as Glanzmann thrombasthenia, peripartum hemorrhage is common, with up to half of the deliveries in some series requiring red cell or platelet transfusion. Because these conditions are congenital, the fetus may also be affected, placing neonates at risk for serious bleeding complications, including intracranial hemorrhage, although available data is limited. Despite the considerable morbidity and mortality risk associated with inherited platelet disorders, management strategies during pregnancy and delivery remain poorly defined. This stands in contrast to other bleeding disorders, such as factor deficiencies, for which multiple therapeutic approaches have been evaluated in the peripartum setting. In this review, we summarize the available evidence and current management strategies for individuals with inherited platelet disorders during pregnancy and delivery.
The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.
Background/Objectives: MYH9 gene variants cause MYH9-related disease (MYH9-RD), which is also known as Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, and Sebastian syndrome. MYH9-RD is characterized by sensorineural hearing loss, macrothrombocytopenia, thrombocytopenia, hematuria/proteinuria, glomerulonephritis, cataracts purpura, and mucosal bleeding. In addition, the MYH9 gene is also known to be causative of autosomal dominant non-syndromic hearing loss (DFNA17). MYH9-RD is a relatively rare disorder, and the detailed clinical features and mutational spectra remain unclear. Methods: In this study, we performed next-generation sequencing analysis for 15,684 hearing loss patients and identified MYH9-associated hearing loss patients. Detailed clinical information was collected for these patients and summarized. Results: In this study, we identified 24 patients from 18 families with MYH9-associated hearing loss. We clarified the details of hearing deterioration observed in patients based on collected serial audiogram data. Some cases showed rapid hearing deterioration that worsened by about 50 dB within 5 years. Hearing loss is more likely to progress in patients with myosin head domain variants than in patients with myosin tail domain variants, but hearing loss in each set of patients finally deteriorates to bilateral profound hearing loss. Conclusions: In this study, we were able to clarify the detailed characteristics of MYH9-RD- and DFNA17-related hearing loss in a relatively large number of patients, particularly in some cases that showed rapid and asymmetrical hearing deterioration progressing to bilateral profound hearing loss. Our data will be useful for providing more appropriate treatment and follow-up for MYH9-associated hearing loss.
A Case Report of Thrombocytopenia Caused by a May-Hegglin Anomaly in a Young Saudi Female.
Low platelet count is rarely caused by inherited thrombocytopenia. May-Hegglin anomaly is an uncommon condition that falls under the umbrella of familial thrombocytopenia. The condition is under-reported in Saudi Arabia; therefore, we report the current case. This is a 24-year-old Saudi lady, presented to the emergency room with vaginal bleeding. No bleeding occurred at any other sites. She has a positive family history of thrombocytopenia among her father and 2 of her siblings. Her platelet count was 16 × 103/µL with normal other blood count as well as renal and liver panels. She was admitted to the regular bed for investigation as sever thrombocytopenia with suspicion of either familial or immune thrombocytopenia. Further studies showed normal hemostatic, virology, and connective tissue disease markers. Peripheral blood film showed low platelet distribution with occasional large/giant platelets and basophilic inclusion bodies in some neutrophils (Dohle body-like). A picture suggestive of May-Hegglin related thrombocytopenia that was confirmed by the presence of a positive myosin heavy chain 9 (MYH9) gene mutation. In conclusion, there are many difficulties in diagnosing and treating May-Hegglin disorders in females of reproductive age. More research and guidelines are needed to manage inherited thrombocytopenia before and throughout pregnancy.
De Novo MYH9-Related Macrothrombocytopenia in a Toddler: Insights From Platelet Mass Index.
Myosin heavy chain 9-related disease (MYH9-RD) is a rare inherited disorder characterised by macrothrombocytopenia, often misdiagnosed as immune thrombocytopenia (ITP). Early identification is crucial to prevent unnecessary treatments and to ensure appropriate monitoring. The present case aims to highlight the diagnostic challenges and clinical management of MYH9-RD in a toddler, emphasising the importance of early genetic testing. We discuss a 13.5-month-old girl with macrothrombocytopenia lacking Döhle bodies, who initially received intravenous immunoglobulin (IVIg) and corticosteroids without any response. Within two months, whole-exome sequencing identified a pathogenic MYH9 mutation (c.287C>T; p.Ser96Leu). One year later, the patient remains clinically stable without significant bleeding. The occurrence of petechial rash exhibited a more pronounced correlation with platelet mass index (PMI) values compared to platelet count (PLT), underscoring its significance in clinical evaluation. MYH9-RD should be considered in cases of IVIg-resistant thrombocytopenia accompanied by macrothrombocytes. Timely genetic testing can facilitate accurate diagnosis and may help avoid unnecessary procedures, while routine renal and auditory monitoring is important for managing the S96L variant.
Pulled-in-two syndrome in a young woman with restrictive strabismus and rare genetic mutation.
Pulled-in-two syndrome (PITS) is a rare but serious complication of strabismus surgery, with a reported incidence of once every decade among strabismus surgeons. It occurs more commonly in patients of advanced age and those with cranial nerve palsies or who have undergone prior surgeries. We present a case of PITS in a young female, diagnosed following surgery with a hereditary myosin myopathy.
Publicações recentes
The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.
De Novo MYH9-Related Macrothrombocytopenia in a Toddler: Insights From Platelet Mass Index.
Pulled-in-two syndrome in a young woman with restrictive strabismus and rare genetic mutation.
Re-evaluating the MYH9 p.I1816V variant in a patient with atypical clinical presentation.
A novel variant of MYH9 mutation associated macro-thrombocytopenia: A case series.
📚 EuropePMCmostrando 122
Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.
Hematology reportsThe Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.
GenesA Case Report of Thrombocytopenia Caused by a May-Hegglin Anomaly in a Young Saudi Female.
Journal of investigative medicine high impact case reportsDe Novo MYH9-Related Macrothrombocytopenia in a Toddler: Insights From Platelet Mass Index.
British journal of hospital medicine (London, England : 2005)Pulled-in-two syndrome in a young woman with restrictive strabismus and rare genetic mutation.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusResearch Advances in the Physiological and Pathological Function of MYH9 and NMIIA.
International journal of immunogeneticsRe-evaluating the MYH9 p.I1816V variant in a patient with atypical clinical presentation.
Pediatric nephrology (Berlin, Germany)A novel variant of MYH9 mutation associated macro-thrombocytopenia: A case series.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for HaemapheresisSuccessful kidney transplantation using eltrombopag in a patient with MYH9-related disease.
CEN case reportsIdentification of a de novo MYH9 mutation in a Chinese family with MYH9-related disease.
Hematology (Amsterdam, Netherlands)Thrombocytopenia, renal failure and hearing loss in a young patient: MYH9-related disorder.
BMJ case reportsNatural history of the severe subtype of MYH9-related disease (Epstein syndrome).
European journal of internal medicineKidney pathological findings of MYH9-related disease: a cross-sectional nationwide survey in Japan.
Pediatric nephrology (Berlin, Germany)Bariatric Surgery for a Patient With Myosin Heavy Chain 9-Related Disorders (MYH9RD): A Case Report.
Journal of metabolic and bariatric surgery[Refractory immune thrombocytopenia revealing MYH9 related disease in a 64-year-old man].
La Revue de medecine interneClinical and genetic characteristics of 40 patients with nonmuscle myosin heavy chain 9-related disease (MYH9-RD) misdiagnosed as immune thrombocytopenia: a retrospective analysis in China.
Journal of thrombosis and haemostasis : JTHMYH9-related disease with a normal platelet count.
CEN case reportsIdentification of a novel MYH9-related disease-associated mutation with multiple faintly staining Döhle-like bodies.
Pediatric blood & cancerSuccessful hematopoietic stem cell transplantation in MYH9-related congenital thrombocytopenia.
Pediatric blood & cancerMYH9-related disorder with sole presentation of end-stage kidney disease and long-term, recurrence-free living after living donor renal transplantation: a case report.
CEN case reportsMYH9-related disease misdiagnosed for a decade: lessons from diagnostic pitfalls.
QJM : monthly journal of the Association of PhysiciansDiagnostic delay of MYH9-related disorder in Japan.
British journal of haematologyMarked Underestimation of Platelet Count and a Characteristic Platelet Histogram as Clues to MYH9-Related Disorders.
Clinical laboratoryUnveiling the hidden clues: Döhle body-like inclusions as morphological markers for MYH9-related disorders: A case report.
Medicine[Analysis of clinical phenotype and gene mutation characteristics of MYH9-related disorder].
Zhonghua yi xue za zhiA nationwide survey of MYH9-related disease in Japan.
Clinical and experimental nephrologyAnesthetic considerations for May-Hegglin anomaly.
Minerva anestesiologicaSuccessful living-related kidney transplantation in MYH9-related disorder with macrothrombocytopenia: lessons for the clinical nephrologist.
Journal of nephrologyHereditary thrombocytopenia with familial novel mutation in MYH9 gene: A familial case report.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for HaemapheresisSuccessful administration of eltrombopag in preparation for peritoneal dialysis catheter placement in a girl with MYH9-related disease.
CEN case reportsSuccessful Eltrombopag Therapy in a Child with MYH9-Related Inherited Thrombocytopenia.
Children (Basel, Switzerland)A familial case of MYH9 gene mutation associated with multiple functional and structural platelet abnormalities.
Scientific reportsPost-Kidney Transplant Brief Psychosis in a Patient With MYH9-Related Disease: A Case Report.
Transplantation proceedingsAvatrombopag improves thrombocytopenia in MYH9-related disorder following eltrombopag treatment failure.
PlateletsDefective VWF secretion due to expression of MYH9-RD E1841K mutant in endothelial cells disrupts hemostasis.
Blood advancesUmbilical cord blood transplantation for MYH9-related disorders.
Pediatric blood & cancerA gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome.
Blood advancesLower Leg Hyperpigmentation in MYH9-Related Disorder.
CutisCharacterization of Sensorineural Hearing Loss in Patients With MYH9-Related Disease: A Systematic Review.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology[Clinical and genetic features of seven children with MYH9-related disease].
Zhonghua er ke za zhi = Chinese journal of pediatrics[Gene analysis and clinical features of MYH9-related disease].
Zhonghua er ke za zhi = Chinese journal of pediatricsIndividualized Bleeding Risk Assessment through Thromboelastography: A Case Report of May-Hegglin Anomaly in Preterm Twin Neonates.
Children (Basel, Switzerland)Myosin Heavy Chain 9 (MYH9)-Related Congenital Macrothrombocytopenia.
CureusMYH9-related Disease Caused by an R1165C Mutation in a Child With Previous Diagnosis of Immune Thrombocytopenic Purpura.
Journal of pediatric hematology/oncologySpontaneous and recurrent subdural haematoma in a patient with May-Hegglin anomaly.
BMJ case reportsRole of Thrombopoietin Receptor Agonists in Inherited Thrombocytopenia.
International journal of molecular sciencesRenal Biopsy-induced Hematoma and Infection in a Patient with Asymptomatic May-Hegglin Anomaly.
Journal of Nippon Medical School = Nippon Ika Daigaku zasshiThe May-Hegglin anomaly: a rare cause of a common complaint.
BMJ case reportsThe curious incident of a cavum velum interpositum cyst in twins of a mother carrying May-Hegglin anomaly: a case report and short literature review.
BMC pregnancy and childbirthAnesthetic Management of Living-Donor Renal Transplantation in a Patient With Epstein Syndrome Using Rotational Thromboelastometry: A Case Report.
A&A practiceObstetrical bleeding in women with MYH9-related disease-A systematic review.
Haemophilia : the official journal of the World Federation of HemophiliaSuccessful cochlear implantation in a patient with Epstein syndrome during long-term follow-up.
Auris, nasus, larynxA family with an MYH9-related disorder with different phenotypes masquerading as immune thrombocytopaenia: an underreported disorder in Taiwan.
International journal of hematologyAn interesting case of thrombocytopenia in pregnancy.
International journal of hematologyLinking the Landscape of MYH9-Related Diseases to the Molecular Mechanisms that Control Non-Muscle Myosin II-A Function in Cells.
CellsA De Novo Mutation in MYH9 in a Child With Severe and Prolonged Macrothrombocytopenia.
Journal of pediatric hematology/oncologyFamilial macro thrombocytopenia: role of genetics where morphology fails.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisMegakaryocyte migration defects due to nonmuscle myosin IIA mutations underlie thrombocytopenia in MYH9-related disease.
BloodA case report of optic neuropathy following dacryocystorhinostomy in a 57-year-old female patient with May-Hegglin anomaly.
BMC ophthalmologyRare inherited kidney diseases: an evolving field in Nephrology.
Jornal brasileiro de nefrologiaA novel de novo MYH9 mutation in MYH9-related disease: A case report and review of literature.
Medicine[Molecular diagnosis of a family with May-Hegglin anomaly].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsThe use of pan-retinal photocoagulation to treat recurrent vitreous haemorrhage with neovascularisation in the context of Epstein syndrome: an MYH9-related disorder.
BMJ case reportsA sporadic MYH9-related disease in a Chinese boy with p.A95T mutation.
Hematology (Amsterdam, Netherlands)Cellular defects resulting from disease-related myosin II mutations in Drosophila.
Proceedings of the National Academy of Sciences of the United States of AmericaSafety of clozapine in patient with treatment resistant schizophrenia & asymptomatic constitutional macrothrombocytopenia (Harris syndrome).
Asian journal of psychiatryNext-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Human mutationPay attention to neutrophil inclusions in pediatric patients with thrombocytopenia.
BloodGenetic classification and confirmation of inherited platelet disorders: current status in Korea.
Clinical and experimental pediatricsMYH9-related disorders display heterogeneous kidney involvement and outcome.
Clinical kidney journalRenin-angiotensin System Blockade Therapy for Early Renal Involvement in MYH9-related Disease with an E1841K Mutation.
Internal medicine (Tokyo, Japan)Cell surface expression of HLA I molecules as a marker of young platelets.
Journal of thrombosis and haemostasis : JTHMalta (MYH9 Associated Elastin Aggregation) Syndrome: Germline Variants in MYH9 Cause Rare Sweat Duct Proliferations and Irregular Elastin Aggregations.
The Journal of investigative dermatology[Clinical features and MYH9 gene variant in two Chinese siblings with Fechtner syndrome].
Zhonghua er ke za zhi = Chinese journal of pediatricsMYH9-related disease mutations cause abnormal red blood cell morphology through increased myosin-actin binding at the membrane.
American journal of hematologyMYH9 Disorders (May-Hegglin Anomaly) the Role of the Blood Smear.
Journal of pediatric hematology/oncology[Hereditary thrombocytopenia associated with a mutation in the MYH-9 gene. Report of one case].
Revista medica de ChileIdentification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing.
Journal of pediatric hematology/oncologyGenotype-phenotype correlation of a novel MYH9 mutation (p.G736L) in a patient with macrothrombocytopenia and end-stage renal disease.
Annals of hematologyMYH9 Associated nephropathy.
NefrologiaIndication of total parathyroidectomy for an Epstein syndrome patient with end-stage renal disease.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieIsolated thrombocytopenia in childhood: what if it is not immune thrombocytopenia?
Singapore medical journalMYH9-related disorders: a rare cause of neonatal thrombocytopaenia.
BMJ case reportsExpert consensus guidelines for the genetic diagnosis of Alport syndrome.
Pediatric nephrology (Berlin, Germany)Anesthetic management without perioperative platelet transfusion for cervical laminectomy and laminoplasty in a case of May-Hegglin anomaly.
Journal of anesthesiaMacrothrombocytopenia, renal dysfunction and nephrotic syndrome in a young male patient: a case report of MYH9-related disease.
Jornal brasileiro de nefrologiaMYH9: Structure, functions and role of non-muscle myosin IIA in human disease.
Gene[Patient was wrongly diagnosed and repeatedly treated for immune thrombocytopenia for 50 years].
LakartidningenManagement of patients with severe Epstein syndrome: Review of four patients who received living-donor renal transplantation.
Nephrology (Carlton, Vic.)Macrothrombocytopenia With Congenital Bilateral Cataracts: A Phenotype of MYH9 Disorder With Exon 24 Indel Mutations.
Journal of pediatric hematology/oncologyNephroquiz 10: A 16-Year-Old Patient With Thrombocytopenia and Kidney Failure.
Iranian journal of kidney diseasesMean platelet diameter measurements to classify inherited thrombocytopenias.
International journal of laboratory hematologyDiagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia.
PlateletsNew Alert Message Settings for the XN-series Automated Hematology Analyzer Are Useful for Avoiding Falsely High WBC Counts and to Detect Specimens with Giant Platelets.
Annals of clinical and laboratory scienceSubarachnoid Hemorrhage Revealing Moyamoya Syndrome in a Patient With May-Hegglin Anomaly.
The neurologistEltrombopag to Treat Thrombocytopenia During Last Month of Pregnancy in a Woman With MYH9-Related Disease: A Case Report.
A&A practiceMYH9-Related Thrombocytopenia.
Mayo Clinic proceedings[Renal diseases related to MYH9 disorders].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologiaCase 4: Hydrocephalus, Macrothrombocytopenia, Inclusion Bodies, and Nephropathy in a 9-year-old Boy.
Pediatrics in review[Genetic analysis of a pedigree affected with inherited thrombocytopenia caused by a novel mutation of MYH9 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsMYH9 gene mutations associated with bleeding.
PlateletsRole for formin-like 1-dependent acto-myosin assembly in lipid droplet dynamics and lipid storage.
Nature communicationsSevere to profound deafness may be associated with MYH9-related disease: report of 4 patients.
Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-faccialeMYH9-related disorder, a probable May-Hegglin anomaly case series: A tertiary care experience.
Hematology/oncology and stem cell therapyDelayed diagnosis of MYH-9–related disorder and the role of light microscopy in congenital macrothrombocytopenias.
BloodMacrothrombocytopenia With Döhle Body-Like Granulocyte Inclusions: A Case Report of May-Hegglin Anomaly in a 33-Year-Old White Woman With an Update on the Molecular Findings of MYH9-Related Disease.
Laboratory medicine[Anesthetic Management of a Patient with May-Hegglin Anomaly].
Masui. The Japanese journal of anesthesiologyGrey platelet syndrome misdiagnosed as ITP.
British journal of haematologyLate onset and high-frequency dominant hearing loss in a family with MYH9 disorder.
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 SurgeryA Japanese pedigree with a p.A95V mutation in the MYH9 gene demonstrates inherited macrothrombocytopenia without Alport manifestations.
Annals of hematologySuccessful Kidney Transplantation in Epstein Syndrome With Antiplatelet Antibodies and Donor-specific Antibodies: A Case Report.
Transplantation proceedingsEasy bruising due to giant platelet (possibly MYH9-related/Sebastian) syndrome.
Indian journal of dermatology, venereology and leprology[Which genetic testing in renal disease].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologiaPreoperative use of platelets in a 6-year-old with acute appendicitis and a myosin heavy chain 9-related disorder: a case report and review of literature.
TransfusionSporadic Epstein syndrome with macrothrombocytopenia, sensorineural hearing loss and renal failure.
Pediatrics international : official journal of the Japan Pediatric SocietyThrombin generation in two families with MYH9-related platelet disorder.
Platelets[Hereditary macrothrombocytopenia and hearing loss].
Duodecim; laaketieteellinen aikakauskirjaNonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.
Ear and hearingGenotype-phenotype Correlation of the p.R1165C Mutation in the MYH9 Disorder: Report of a Japanese Pedigree.
Journal of pediatric hematology/oncologyImmature platelet fraction measurement is influenced by platelet size and is a useful parameter for discrimination of macrothrombocytopenia.
Hematology (Amsterdam, Netherlands)Misdiagnosed MYH9 related inherited macrothrombocytopenia with an inadvertent splenectomy.
PathologyMYH9-related thrombocytopenia and intracranial bleedings: a complex clinical/surgical management and review of the literature.
British journal of haematologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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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.
- Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.
- The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.
- A Case Report of Thrombocytopenia Caused by a May-Hegglin Anomaly in a Young Saudi Female.
- De Novo MYH9-Related Macrothrombocytopenia in a Toddler: Insights From Platelet Mass Index.
- Pulled-in-two syndrome in a young woman with restrictive strabismus and rare genetic mutation.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus· 2026· PMID 41587614mais citado
- Re-evaluating the MYH9 p.I1816V variant in a patient with atypical clinical presentation.
- A novel variant of MYH9 mutation associated macro-thrombocytopenia: A case series.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:182050(Orphanet)
- OMIM OMIM:153640(OMIM)
- MONDO:0015912(MONDO)
- GARD:180(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3843790(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
