Introdução
O que você precisa saber de cara
Coagulação, também conhecida como formação de coágulo, é o processo pelo qual o sangue muda de líquido para gel, formando um coágulo sanguíneo. O processo envolve a ativação, adesão e agregação de plaquetas, bem como a deposição e maturação da fibrina. A coagulação resulta na hemostasia, a interrupção da perda de sangue de um vaso danificado, permitindo o reparo.
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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
+ 65 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 172 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
10 genes identificados com associação a esta condição.
This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin
Cytoplasm, myofibril, sarcomereCytoplasm, cytoskeleton
Nemaline myopathy 2
A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination.
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells
Cytoplasm, cytoskeleton
Congenital myopathy 2A, typical, autosomal dominant
A muscular disorder characterized by generalized muscle weakness, delayed motor milestones, hypotonia, and muscle fiber abnormalities on histologic examination. Histologic findings include abnormal thread- or rod-like structures (nemaline rods), intranuclear rods, clumped filaments, cores, or fiber-type disproportion. The spectrum of clinical phenotypes ranges from severe neonatal presentations to onset of a milder disorder in childhood.
Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments
Cytoplasm, cytoskeleton
Congenital myopathy 4A, autosomal dominant
A muscular disorder characterized by onset of muscle weakness in infancy or childhood. Most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Many patients have respiratory insufficiency with reduced vital capacity. Skeletal muscle biopsy shows nemaline rod inclusions, subsarcolemmal 'cap' structures, and fiber-type disproportion.
Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines
CytoplasmNucleusCytoplasm, myofibril, sarcomereCytoplasm, myofibril, sarcomere, Z line
Congenital myopathy 24
An autosomal recessive muscular disorder characterized by slowly progressive muscle weakness and atrophy, mainly affecting the lower limbs and neck. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure. Muscle biopsy shows nemaline bodies.
Essential for the organization of sarcomeric actin thin filaments in skeletal muscle (PubMed:25250574). Increases the rate of actin polymerization (PubMed:25250574)
CytoplasmCytoplasm, myofibril, sarcomere, M lineCytoplasm, myofibril, sarcomere, A bandCytoplasm, cytoskeleton
Nemaline myopathy 10
An autosomal recessive severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM10 is characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Additional features include arthrogryposis or congenital contractures, ophthalmoplegia, a history of prematurity, reduced fetal movements, and polyhydramnios. Most patients die of respiratory failure in early infancy.
Controls reversibly actin polymerization and depolymerization in a pH-sensitive manner. Its F-actin depolymerization activity is regulated by association with CSPR3 (PubMed:19752190). It has the ability to bind G- and F-actin in a 1:1 ratio of cofilin to actin. It is the major component of intranuclear and cytoplasmic actin rods. Required for muscle maintenance. May play a role during the exchange of alpha-actin forms during the early postnatal remodeling of the sarcomere (By similarity)
Nucleus matrixCytoplasm, cytoskeleton
Nemaline myopathy 7
A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 7 presents at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved.
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a key regulator of skeletal muscle development (PubMed:23746549). The BCR(KLHL40) complex acts by mediating ubiquitination and degradation of TFDP1, thereby regulating the activity of the E2F:DP transcription factor complex (By similarity). Promotes stabilization of LMOD3 by acting as a negative regulator of LMOD3 ubiquitination; the molecular process by which it negatively regulates ubiquitination of LM
CytoplasmCytoplasm, myofibril, sarcomere, A bandCytoplasm, myofibril, sarcomere, I band
Nemaline myopathy 8
A severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM8 is characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils.
Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments. The non-muscle isoform may have a role in agonist-mediated receptor internalization
Cytoplasm, cytoskeleton
Congenital myopathy 23
An autosomal dominant muscular disorder characterized clinically by hypotonia and muscle weakness, and a static or slowly progressive clinical course. Disease onset ranges from birth to childhood. Histologic examination of muscle fibers shows various anomalies including fiber type disproportion, an irregular myofibrillar network, abnormal thread-like or rod-shaped structures, and cap-like structures which are well demarcated and peripherally located under the sarcolemma with abnormal accumulation of sarcomeric proteins.
Involved in skeletal muscle development and differentiation. Regulates proliferation and differentiation of myoblasts and plays a role in myofibril assembly by promoting lateral fusion of adjacent thin fibrils into mature, wide myofibrils. Required for pseudopod elongation in transformed cells
CytoplasmCytoplasm, cytoskeletonCell projection, pseudopodiumCell projection, ruffleCytoplasm, myofibril, sarcomere, M lineSarcoplasmic reticulum membraneEndoplasmic reticulum membrane
Nemaline myopathy 9
An autosomal recessive form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM9 phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood.
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex
Cytoplasm
Nemaline myopathy 6
A form of nemaline myopathy characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over.
Variantes genéticas (ClinVar)
2,845 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
8 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 — Deficiências qualitativas e quantitativas da alfa-actina
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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Birth (Berkeley, Calif.)Aboriginal and Torres Strait Islander Peoples' Experiences With Culturally Safe Dental Research: A Qualitative Exploration.
Community dentistry and oral epidemiologyUnraveling acceptance of healthcare innovations in neurorehabilitation: results from a discrete choice experiment.
The European journal of health economics : HEPAC : health economics in prevention and careParaspinal muscle fatty infiltration is associated with nonunion and cage subsidence after anterolateral lumbar interbody fusion: a level-specific analysis.
Scientific reportsPatients' Lived Experiences After Cytoreductive Surgery and HIPEC for Peritoneal Carcinomatosis from GI Malignancies: A Qualitative Study.
Annals of surgical oncologyLessons from the COVID-19 pandemic: A secondary thematic analysis of nurse managers' experiences.
NursingIllness experience and needs in children with inflammatory bowel disease: a systematic review and meta-synthesis of qualitative studies.
BMC pediatricsAnalysis of functional and serviceability performance in sustainable yarns and socks by using multi-response optimization technique.
Scientific reportsIntegrated treatment approaches for co-occurring mental health and substance use disorders: findings from a survey of European healthcare providers.
Irish journal of psychological medicineSubjective meanings of quality of life and related coping mechanisms: insights from a reflective thematic analysis among people living with HIV in Antwerp, Belgium.
AIDS careIntersecting stigmas: the impact of ageism and HIV discrimination on care experiences of older adults in Uganda.
AIDS careCorrigendum to "To be a crew member, a passenger, or plainly left behind - a qualitative study of women's experiences of decision-making regarding interventions in labour and birth" [Midwifery 156 (2026) 104732].
MidwiferyEthical tensions in legally mandated substance use treatment: A scoping review of participant perspectives.
Addiction (Abingdon, England)The Place of Fruits and Herbal Medicines in the Treatment of Diabetes in Pregnancy: Two Sides of the Coin.
The journal of obstetrics and gynaecology researchTikTokfluence: The rise of GLP-1 receptor agonists in the age of social media health trends.
Journal of the American Pharmacists Association : JAPhAPaid Employment and Ability to Work Among People Receiving Dialysis: A Systematic Review of Qualitative Studies.
American journal of kidney diseases : the official journal of the National Kidney FoundationPost-finasteride syndrome: survey of dermatologists from the Spanish Hair and Nail Disorders Group.
Actas dermo-sifiliograficasTemporary Mechanical Circulatory Support in LVAD Candidates with Right Ventricular Dysfunction: Acuity Without Long-Term Futility.
The Journal of heart and lung transplantation : the official publication of the International Society for Heart TransplantationBuilding Public Health Leadership Capacity Through Community-Based Education: The Florida Health Policy Leadership Academy.
American journal of preventive medicineTherapeutic efficacy of engineered exosomes in Alzheimer's disease: A systematic review and meta-analysis of preclinical animal models.
NeuroscienceLimited consensus in expert opinions on studies evaluating the design, conduct, analysis, or reporting of health research: a survey study.
Journal of clinical epidemiologyEvaluation of Lung Disease in Adults with Osteogenesis Imperfecta: A Cross-Sectional, Multi-Center Study.
ChestVolunteering for Ukraine: scoping the operational experiences and impacts among UK and US veterans.
European journal of psychotraumatologyDried Serum Spots for External Quality Assurance of Scrub Typhus IgM Serology: A Multicentre Pilot Study From India.
Tropical medicine & international health : TM & IHSurviving the tsunami of an ageing academic workforce: Mentorship for the next generation.
Nurse education todayHow do environment and place attachment influence social participation among stroke survivors? A mixed-methods study.
Health & placeCaretakers treating sows under veterinary supervision: Veterinarians' perceptions of medication safety risks.
Preventive veterinary medicineTranslating MRI to PET through conditional diffusion models with enhanced pathology awareness.
Medical image analysisExperiences of obstetric anaesthesia care among minoritised ethnic groups in England: a qualitative study.
International journal of obstetric anesthesiaCharacterizing nursing home care team communication via text messaging: A social network analysis.
International journal of medical informaticsArabic verbal fluency in mesial temporal and generalized epilepsy: evidence from letter and category tasks with healthy controls.
Epilepsy & behavior : E&BClinician Perspectives on the Extracorporeal Membrane Oxygenation Decision-Making Process.
JAMA network open"It's a journey": Psychosocial perspectives on parenting a young child with esophageal atresia.
Pediatric surgery internationalPsychological Resilience and Coping Among Women Living With Chronic Hypertension in Rural Uganda.
Inquiry : a journal of medical care organization, provision and financingPulmonary Function in Pediatric Inflammatory Bowel Disease: A Systematic Review and Meta-Analysis.
Pediatric pulmonologyDeveloping policy-informed principles for rehabilitation using a model of care framework: a hand therapy example in a Global South context.
Disability and rehabilitationA Netnographic Analysis of Media Framing on Malaysia's Tobacco Generation End Game.
Asia-Pacific journal of public healthPreparing Health Profession Students to Address Vaccine Hesitancy.
Journal of cancer education : the official journal of the American Association for Cancer EducationListening to Australians with ovarian cancer: a cross-sectional survey investigating clinical trials awareness, information access and participation.
Supportive care in cancer : official journal of the Multinational Association of Supportive Care in CancerRecalibration: Exploring the Impact of Elexacaftor/Tezacaftor/Ivacaftor on Self-Concept for Adults with Cystic Fibrosis.
The patientOptimization of care and recovery in older colorectal cancer surgery patients: a hybrid effectiveness-implementation pilot study protocol.
Pilot and feasibility studiesQuality care collaboratives for maternal health across U.S. states: a scoping review protocol a scoping review protocol a scoping review protocol a scoping review protocol a scoping review protocol.
Systematic reviewsPathways to care among women hospitalized with severe abortion complications in Bangui, Central African Republic, a conflict-affected urban setting: qualitative results of the AMoCo (abortion-related morbidity and mortality in conflict-affected and fragile settings) study.
Conflict and healthPublic-Private Partnerships in tuberculosis service delivery in Somalia: a qualitative analysis.
BMC research notesTesting a digitally administered intervention to increase social participation, physical fitness, and health awareness among healthy older adults by means of tablet-based app use: study protocol of the SMART-AGE randomized controlled trial.
Trials"There's no better medicine than my outdoors": understanding the importance of physical activity in rural and remote First Nations communities in Northern British Columbia, Canada.
The international journal of behavioral nutrition and physical activityExploring the effectiveness of physical health check interventions for people with severe mental illness: a systematic review of qualitative and quantitative evidence.
BMC health services researchTransition to parenthood: parents' experiences of an extended home visiting programme in socioeconomically disadvantaged areas of Sweden.
International journal for equity in healthEffectiveness of situational simulation and case-based learning in pediatric intern cardiopulmonary resuscitation training: a pilot study.
BMC medical educationExperiences of hemodialysis in patients with end-stage renal disease: a patient journey map based on a qualitative study.
BMC nephrologyFacilitators and barriers to self-management among patients with maintenance hemodialysis in central China: a qualitative study.
BMC nephrologyThe Views of Swim School Providers on Impacts of a Population-Level Swimming Lesson Voucher Program.
Health promotion journal of Australia : official journal of Australian Association of Health Promotion ProfessionalsBeyond the ICU: family resilience and emotional turmoil after intensive care - a qualitative study.
International journal of qualitative studies on health and well-beingEmotional and psychological challenges of wives of men with schizophrenia: A phenomenological study.
Archives of psychiatric nursingSpirituality, culture, and family resilience in Alzheimer's care: A qualitative descriptive study in Türkiye.
Archives of psychiatric nursingCore elements of workplace violence management competence among nursing interns from the perspective of nursing educators: A qualitative study.
Archives of psychiatric nursingExamining the psychological symptoms of pediatric oncology nurses and barriers to seeking psychological help: A mixed-methods study.
Archives of psychiatric nursingAssociações
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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.
- Development of a framework for implementing digital serious games in anatomy education: A single-centre qualitative study.
- Developing a leadership competency model for Chinese oncologists using the Delphi method.
- Sustainable Business Models in Artificial Intelligence-Integrated Nursing: A Qualitative Study of Opportunities and Risks.
- Clinicians' Perspectives on Implementing Contingency Management to Promote Parental Smoking Cessation in Routine Infant Care.
- Deep learning-based segmentation of aneurysmal subarachnoid hemorrhage: toward accurate and scalable prognostic imaging.Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia· 2026· PMID 41871480mais citado
- Longitudinal Analysis of Variations in Daily Step Counts and Long-Term Implications of COVID-19 Waves and Restriction Phases in Qatar's Step Into Health Program: Mixed Methods Study.
- Scaling Multimodal Agentic AI in Medical Education: Multisite Cross-Sectional Study of Simulation Effectiveness in Primary Care.
- The Roles and Purposes of Caring Touch in Health Professional Practice: A Discourse Analysis.
- Variations in Frailty Perceptions Between Patients and Physicians.
- Why Some Speak Up: Exploring Bystander Action in Psychological Gender-Based Violence.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:209059(Orphanet)
- MONDO:0016193(MONDO)
- GARD:20432(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Q55786012(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
