Esta síndrome é caracterizada pela associação de múltiplas malformações capilares (MC) com malformação arteriovenosa (MAV) e fístulas arteriovenosas.
Introdução
O que você precisa saber de cara
Esta síndrome é caracterizada pela associação de múltiplas malformações capilares (MC) com malformação arteriovenosa (MAV) e fístulas arteriovenosas.
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
+ 30 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 66 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
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.
GTPase-activating protein (GAP) that stimulates the intrinsic GTPase activity of Ras proteins, such as NRAS, facilitating their transition from the active GTP-bound state to the inactive GDP-bound state, thereby terminating Ras signaling
Cytoplasm
Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Together with its cognate ligand/functional ligand EFNB2 it is involved in the regulation of cell adhesion and migration, an
Cell membrane
Lymphatic malformation 7
A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM7 is an autosomal dominant form with variable expressivity. Some individuals present with severe non-immune hydrops fetalis, which may cause perinatal demise or fully resolve after the neonatal period. Others present with no edema and have milder clinical features, such as atrial septal defect or varicose veins as adults.
Variantes genéticas (ClinVar)
601 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,541 variantes classificadas pelo 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 — Malformação capilar-malformação arteriovenosa
Centros de Referência SUS
24 centros habilitados pelo SUS para Malformação capilar-malformação arteriovenosa
Centros para Malformação capilar-malformação arteriovenosa
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Outros ensaios clínicos
4 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Progressive non-immune hydrops fetalis associated with RASA1 mutation: prenatal imaging and genomic insights.
Hydrops fetalis (HF) is the pathological accumulation of fluid in two or more fetal compartments. While immune-mediated HF was historically predominant, non-immune hydrops fetalis (NIHF) is now increasingly common. Advances in genetic testing have revealed monogenic causes, including RASopathies (a group of genetic syndromes caused by dysregulation of the RAS-mitogen-activated protein kinase signalling pathway). We report a young primigravida, referred at 20+3 weeks for unilateral fetal pleural effusion. Serial ultrasound scans showed rapid progression to bilateral effusion, hepatomegaly, polyhydramnios and NIHF. First-trimester screening and non-invasive prenatal testing were low-risk, Toxoplasmosis, Other agents, Rubella, Cytomegalovirus, Herpes simplex serologies and PCR ruled out infection. Whole exome sequencing identified a likely pathogenic heterozygous frameshift mutation in the RASA1 gene (c.723dupT; p.Gly242TrpfsTer23), associated with capillary malformation-arteriovenous malformation type 1 (CM-AVM1). The mother had a subtle congenital capillary haemangioma on her left hand and revealed the same heterozygous variant of RASA1 gene, indicating variable expressibility. This case highlights the importance of considering rare monogenic causes like RASA1-related CM-AVM1 in NIHF, especially when early findings precede florid hydrops and classical RASopathy features are absent.
COVID-19 Outcomes and Risk Factors for Hospitalization in Adult Patients With Primary Immunodeficiency.
The impact of coronavirus disease 2019 (COVID-19) on patients with primary immunodeficiency (PID) remains insufficiently characterized. This study aimed to describe the clinical manifestations, disease course, and outcomes of COVID-19 in patients with PID. Adult patients with PID who had COVID-19 infection between March 2020 and August 2022 were screened. Demographic and clinical data were retrospectively collected from institutional databases, and additional information was obtained through a patient questionnaire. A total of 36 patients (19 males, 17 females; median age: 36.5 years) with various PID subtypes were included: 24 with common variable immunodeficiency (CVID), 3 with cytotoxic T-lymphocyte-associated protein-4 haploinsufficiency, 3 with X-linked agammaglobulinemia (XLA), 2 with hypogammaglobulinemia, 1 with lipopolysaccharide-responsive and beige-like anchor protein deficiency, 1 with DiGeorge syndrome, 1 with mitochondrial neurogastrointestinal encephalomyopathy syndrome, and 1 with CVID-like capillary malformation-arteriovenous malformation syndrome 2. Overall, 63.9% (n = 23) were managed as outpatients, while 36.1% (n = 13) required hospitalization. Admission to the intensive care unit was required in 19.4% (n = 7) of the cases. The overall case fatality rate was 8.3% (n = 3), which is higher than the rate observed in the general population. Although the majority experienced a mild clinical course, patients with XLA exhibited prolonged symptoms and persistent seropositivity. Risk factors associated with hospitalization included lymphopenia, elevated C-reactive protein and ferritin levels, dyspnea, COVID-19 Reporting and Data System score ≥ 4 on imaging, need for supplemental oxygen, prolonged symptoms, and extended polymerase chain reaction positivity. A subset of adult patients with PID may be at increased risk for severe COVID-19.
Addressing Palliative Care Gaps for Rare Congenital Disease in Adults: CM-AVM2 as an Example.
Capillary malformation-arteriovenous malformation type 2 (CM-AVM2) is a rare vascular disorder marked by complex, progressive symptoms and limited treatment options. As more individuals with rare diseases reach adulthood, palliative care plays an essential role in supporting quality of life when disease-directed therapies begin to fail. We present a young adult male with EPHB4-positive CM-AVM2, transferred to our tertiary care center for progressive malnutrition, refractory diarrhea, and worsening abdominal pain despite extensive subspecialty care. His hospitalization was marked by escalating symptom burden, limited response to medical therapies, and increasing emotional distress for both patient and family. Palliative care was consulted to assist with pain control and symptom management, with initial reluctance for discussing goals of care (GOC). Through medication optimization, dynamic communication, and consistent interdisciplinary collaboration, the team helped stabilize aspects of his comfort and gradually facilitated GOC discussions. Our case emphasizes the value of integrating palliative care in rare disease management, particularly when longstanding treatments are refractory. We further discuss how palliative care in this setting differs from standard frameworks, requiring proactive use of disease-specific resources and protracted, anticipatory care planning to optimize quality of life.
Double Genetic Diagnosis Involving MECP2 and EPHB4 in a Child with Neurodevelopmental Delay and Vascular Anomalies: A Case Report.
Double genetic diagnoses are increasingly identified with the advent of genome-wide sequencing techniques. While MECP2 mutations are associated with Rett syndrome and EPHB4 mutations with vascular malformation syndromes, their co-occurrence has not been previously described. We describe an 8-year-and-2-month-old girl presenting with global developmental delay, autism spectrum disorder, and stereotypic behaviors, along with multiple well-demarcated cutaneous vascular lesions. Although she had no clinical seizures, electroencephalogram revealed epileptiform discharges. Physical examination showed dysmorphic features and vascular anomalies, including telangiectatic pink-to-red macular vascular lesions. Whole exome sequencing (WES) identified two de novo heterozygous pathogenic variants: a missense mutation in MECP2 (c.433C>T; p.Arg145Cys), a gene classically implicated in Rett syndrome, and a nonsense mutation in EPHB4 (c.1093C>T; p.Arg365Ter), which has been previously associated with capillary malformation-arteriovenous malformation syndrome type 2. The neurodevelopmental findings, while consistent with the broader spectrum of MECP2-related disorders, along with coexisting vascular anomalies, were best accounted for by a dual genetic diagnosis involving both MECP2 and EPHB4. This case underscores the diagnostic value of considering dual genetic diagnoses in patients with complex phenotypes and highlights the role of WES in uncovering multilocus variation, thereby expanding the known phenotypic spectrum associated with MECP2 and EPHB4 mutations.
Capillary malformation-arteriovenous malformation syndrome (CM-AVM): a systematic review of cerebrovascular manifestations.
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a rare genetic disorder characterized by cutaneous capillary malformations and fast-flow vascular lesions, including arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs). CM-AVM is caused by mutations in RASA1 and EPHB4, leading to aberrant Ras-MAPK signaling. A systematic search of PubMed and Scopus was conducted for studies published until June 2025. The inclusion criteria were studies reporting cerebrovascular malformations in genetically confirmed CM-AVM cases. A total of 37 studies were included in the final analysis. The review included 148 patients diagnosed with CM-AVM, with 86% carrying RASA1 mutations and 14% carrying EPHB4 mutations. The most common cerebrovascular lesions were pial AVFs (43.3%) and AVMs (36.0%), with a notable distinction between the two genetic subtypes. RASA1 mutations were associated with a broader range of lesions, including AVMs, pAVFs, and vGaMs, whereas EPHB4 mutations were predominantly linked to vGaMs. Nearly 25% of patients required endovascular embolization, and 5.3% underwent surgery. A significant difference in the cerebrovascular phenotype was observed between RASA1 and EPHB4 mutations, with the latter group presenting a narrower vascular phenotype. This review highlights the crucial need for screening cerebrovascular anomalies in CM-AVM patients due to potential misdiagnosis with HHT. Genetic testing is essential for confirmation, but regular imaging and clinical evaluation are key to detecting vascular lesions early, preventing severe neurological complications. Further research into additional genetic mutations may improve diagnostic accuracy and management strategies.
Publicações recentes
Chinese capillary malformation-arteriovenous malformation: clinical and genetic analysis of eight cases.
Progressive non-immune hydrops fetalis associated with RASA1 mutation: prenatal imaging and genomic insights.
COVID-19 Outcomes and Risk Factors for Hospitalization in Adult Patients With Primary Immunodeficiency.
Double Genetic Diagnosis Involving MECP2 and EPHB4 in a Child with Neurodevelopmental Delay and Vascular Anomalies: A Case Report.
Capillary malformation-arteriovenous malformation syndrome (CM-AVM): a systematic review of cerebrovascular manifestations.
📚 EuropePMC76 artigos no totalmostrando 134
Progressive non-immune hydrops fetalis associated with RASA1 mutation: prenatal imaging and genomic insights.
BMJ case reportsCOVID-19 Outcomes and Risk Factors for Hospitalization in Adult Patients With Primary Immunodeficiency.
Allergy, asthma & immunology researchDouble Genetic Diagnosis Involving MECP2 and EPHB4 in a Child with Neurodevelopmental Delay and Vascular Anomalies: A Case Report.
Molecular syndromologyCapillary malformation-arteriovenous malformation syndrome (CM-AVM): a systematic review of cerebrovascular manifestations.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryEfficacy and safety of endovascular embolization for capillary malformation-arteriovenous malformation of the auricular and periauricular region in pediatric patients.
Quantitative imaging in medicine and surgeryCapillary malformation-arteriovenous malformation: atypical neonatal presentation.
Anales de pediatriaAddressing Palliative Care Gaps for Rare Congenital Disease in Adults: CM-AVM2 as an Example.
Journal of pain and symptom managementEarly arteriovenous malformation mimicking pediatric capillary malformation: diagnostic value of infrared thermography.
HereditasRASopathies. Part II: Cutaneous and extracutaneous manifestations.
Journal of the American Academy of DermatologyErythematous patches in a female teenager: a novel mutation of RASA1 in capillary malformation-arteriovenous malformation syndrome type 1.
Dermatology online journalRASopathies. Part I: Genetics and therapeutic considerations.
Journal of the American Academy of DermatologyIsolated Cutis Marmorata Telangiectatica Congenita in a Full-Term Neonate: A Case Report.
CureusArteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center.
Frontiers in geneticsUnusual Presentation of Coronary Artery Fistula in Capillary Malformation Arteriovenous Malformation 2 Syndrome: A Case Report.
American journal of medical genetics. Part ABasic Knowledge and Overview of Brain AVMs.
Journal of neuroendovascular therapyBiallelic postzygotic RASA1 variants in a germline-negative patient with capillary malformation-arteriovenous malformation.
International journal of dermatologyVariations in RASA1 and EPHB4 in Chinese patients with capillary malformation-arteriovenous malformation.
The Journal of dermatologyNovel postzygotic RASA1 mutation in a patient with Parkes Weber syndrome: A case report and literature review.
Clinical case reportsSecond Report of the p.Leu874Pro Missense Variant in EPHB4 in a Family With Capillary Malformation-Arteriovenous Malformation Syndrome (CM-AVM) Syndrome.
American journal of medical genetics. Part ACase report: MEK inhibitor as treatment for multi-lineage mosaic KRAS G12D-associated epidermal nevus syndrome in a pediatric patient.
Frontiers in neurologyGenotypes and phenotypes of capillary malformation-arteriovenous malformation: characterization and correlation analysis.
International journal of dermatology5q14.3 Microdeletion Syndrome With Simultaneous Involvement of MEF2C and RASA1. Clinical Case and Review of the Literature.
Pediatric dermatologyAnother face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features.
American journal of medical genetics. Part ARASopathies for Radiologists.
Radiographics : a review publication of the Radiological Society of North America, IncSingle dominant lesion in capillary malformation-arteriovenous malformation (CM-AVM) RASA1 syndrome.
Pediatric dermatologyMacrocheilia as an Atypical Clinical Presentation of Capillary Malformation-Arteriovenous Malformation Type 2.
JAMA dermatologySAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic-related fetal hydrops and facial dysmorphology.
Clinical geneticsUnilateral segmental presentation and a novel EPHB4 gene variant in capillary malformation-arteriovenous malformation type 2.
Pediatric dermatologyArteriovenous malformations as a presenting sign of PTEN hamartoma tumor syndrome: A case series.
Pediatric dermatologyPrevalence and Predictors of Hereditary Hemorrhagic Telangiectasia and Capillary-Malformation Arteriovenous Malformation Syndrome Among Children with Neurovascular Malformations.
The Journal of pediatricsSpectrum of lymphatic anomalies in patients with RASA1-related CM-AVM.
Pediatric dermatologyLarge saccular intracranial aneurysm in a child with RASA1-associated capillary malformation-arteriovenous malformation syndrome: illustrative case.
Journal of neurosurgery. Case lessonsHalo Phenomenon in Lobular Capillary Hemangioma: A Case Report of a Pyogenic Granuloma With Surrounding Cutaneous Hypopigmentation and Review of Tumors With Halo Phenomenon.
CureusA temporally-restricted pattern of endothelial cell collagen 4 alpha 1 expression during embryonic development determined with a novel knockin Col4a1-P2A-eGFP mouse line.
Genesis (New York, N.Y. : 2000)EPHB4-RASA1-Mediated Negative Regulation of Ras-MAPK Signaling in the Vasculature: Implications for the Treatment of EPHB4- and RASA1-Related Vascular Anomalies in Humans.
Pharmaceuticals (Basel, Switzerland)Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome.
GenesSeven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants.
Journal of medical geneticsImportance of Arachnoid Dissection in Arteriovenous Malformation Microsurgery: A Technical Note.
World neurosurgeryRecurrent Vein of Galen Aneurysmal Malformation as a Presentation of Hereditary Hemorrhagic Telangiectasia.
Molecular syndromologyCapillary Malformation-Arteriovenous Malformation Syndrome Due to EPHB4 Gene Mutation: Clinical, Dermoscopic, Ecographic and Histopathological Features.
Indian journal of dermatologyDermatoscopic features differentiating among port wine stain, arteriovenous malformation, and capillary malformation-arteriovenous malformation syndrome: to detect potential fast-flow vascular malformations at an early stage.
Journal of the American Academy of DermatologyDisseminated bluish nodules with a protruded right eye: untypical presentation of capillary malformation-arteriovenous malformation (CM-AVM).
International journal of dermatologyCellular and molecular mechanisms of EPH/EPHRIN signaling in evolution and development.
Current topics in developmental biology[Cutaneous capillary malformations with cerebral implementation].
Ugeskrift for laegerCapillary malformation-arteriovenous malformation syndrome associated with basilar artery aneurysm.
Pediatric dermatologyThe genetics of vascular birthmarks.
Clinics in dermatologyInherited Pial Arteriovenous Fistula in Capillary Malformation-Arteriovenous Malformation Family.
Annals of neurologyRASopathies: Dermatologists' viewpoints.
Indian journal of dermatology, venereology and leprologyThe RASopathies: Biology, genetics and therapeutic options.
Advances in cancer researchCapillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review.
Acta dermato-venereologicaAngiogenesis depends upon EPHB4-mediated export of collagen IV from vascular endothelial cells.
JCI insightSuccessful management of an arteriovenous malformation with trametinib in a patient with capillary-malformation arteriovenous malformation syndrome and cardiac compromise.
Pediatric dermatologyCentral nervous system screening in capillary malformation-arteriovenous malformation syndrome: An observational study.
Journal of the American Academy of DermatologyPELVIS and CM-AVM syndromes: Vascular anomalies that require imaging studies.
Pediatrics international : official journal of the Japan Pediatric SocietyTelangiectasias on the lips and hands of a teenage girl.
Pediatric dermatologyVascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies.
Frontiers in pediatricsMisdiagnosis of capillary malformations in darker skin phototypes.
Pediatric dermatologyA case of capillary malformation-arteriovenous malformation and Ebstein's anomaly in a child with EphB4 mutation.
Pediatric dermatologyLeg ulcers in childhood: A multicenter study in France.
Annales de dermatologie et de venereologieCM-AVM syndrome - A prospective observational study of unrelated paediatric cases.
The Australasian journal of dermatologyRASopathies: The musculoskeletal consequences and their etiology and pathogenesis.
BoneCoexistence of RASA1 and COL4A2 variants caused pial arteriovenous fistula (AVF) in a patient with capillary malformation-arteriovenous malformation.
Clinical neurology and neurosurgeryTreatment of capillary malformations in capillary malformation-arteriovenous malformation syndrome with pulsed dye laser.
Journal of cosmetic dermatologySystemic and CNS manifestations of inherited cerebrovascular malformations.
Clinical imagingCapillary Malformation-Arteriovenous Malformation Syndrome.
CureusRhoA activation-mediated vascular permeability in capillary malformation-arteriovenous malformation syndrome: a hypothesis.
Drug discovery todayMultiple lentigines in RASA1-associated capillary malformation-arteriovenous malformation syndrome.
JAAD case reportsRASopathies: A significant cause of polyhydramnios?
Prenatal diagnosisRASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports.
Journal of medical geneticsCapillary malformation-arteriovenous malformation syndrome: a multicentre study.
Clinical and experimental dermatologyPrenatal pleural effusions and chylothorax: An unusual presentation for CM-AVM syndrome due to RASA1.
American journal of medical genetics. Part AManagement challenges of a large upper extremity vascular malformation in a patient with capillary malformation-arteriovenous malformation syndrome.
Journal of vascular surgery. Venous and lymphatic disordersUnilateral and segmental distribution of facial erythema: is it a real port-wine stain?
HereditasDe novo intracranial arteriovenous malformation development after endovascular treatment for a pial arteriovenous fistula in capillary malformation-arteriovenous malformation syndrome.
Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences[Neonatal capillary malformation-arteriovenous malformation complicated with acute heart failure: a case report and literature review].
Zhonghua er ke za zhi = Chinese journal of pediatricsCharacterization of vascular stains associated with high flow.
Journal of the American Academy of DermatologyA novel mutation of RASA1 in capillary malformation-arteriovenous malformation syndrome in a case with spinal cord involvement.
Clinical neurology and neurosurgeryRole of colour-Doppler high-frequency ultrasonography in capillary malformation-arteriovenous malformation syndrome: a case series.
The Australasian journal of dermatologyBroadly distributed vascular macules in a pediatric patient.
CutisHistopathological hallmarks of cutaneous lesions of capillary malformation-arteriovenous malformation syndrome.
Journal of the European Academy of Dermatology and Venereology : JEADVPediatric intracranial arteriovenous shunts: Advances in diagnosis and treatment.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyGood response to pulsed dye laser in patients with capillary malformation-arteriovenous malformation syndrome (CM-AVM).
Pediatric dermatologyCapillary Malformation-Arteriovenous Malformation Combined Alagille Syndrome in a Patient With Double Gene Variations of RASA1 and NOTCH2.
Frontiers in geneticsAtypical capillary malformations with subsequent diplegia: A difficult case of capillary malformation-arteriovenous malformation syndrome.
Pediatric dermatologyMolecular regulation of arteriovenous endothelial cell specification.
F1000ResearchRASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation.
Journal of medical geneticsCapillary malformations in a child with Kabuki syndrome: A case report.
JAAD case reportsNovel RASA1 mutations in Japanese pedigrees with capillary malformation-arteriovenous malformation.
Brain & developmentRASopathy in Patients With Isolated Sagittal Synostosis.
Global pediatric healthRASA1-dependent cellular export of collagen IV controls blood and lymphatic vascular development.
The Journal of clinical investigationPathogenesis of Growth Failure in Rasopathies.
Pediatric endocrinology reviews : PERRasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient.
BMC pediatricsPhenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
Genetics in medicine : official journal of the American College of Medical GeneticsConstitutional mosaicism in RASA1-related capillary malformation-arteriovenous malformation.
Clinical geneticsThe protean manifestations of RASA1 gene mutation.
Clinical and experimental dermatology[New insight of craniofacial and oral findings of the RASopathies].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyMultiple arteriovenous malformations caused by RASA1 gene mutation presenting during pregnancy - a case report and review of the literature.
VASA. Zeitschrift fur GefasskrankheitenA Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family.
Cell journalRASA-1 somatic "second hit" mutation in capillary malformation-arteriovenous malformation.
The Journal of dermatologyMultiple capillary malformations of progressive onset: Capillary malformation-arteriovenous malformation syndrome (CM-AVM).
Annales de dermatologie et de venereologieA novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia.
HereditasExpanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.
European journal of human genetics : EJHGRAS signalling in energy metabolism and rare human diseases.
Biochimica et biophysica acta. BioenergeticsLoss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.
Brain : a journal of neurologyHuman genetics and molecular mechanisms of vein of Galen malformation.
Journal of neurosurgery. PediatricsClinical and genetic findings in children with central nervous system arteriovenous fistulas.
Annals of neurologyRASA1 mutation in a family with capillary malformation-arteriovenous malformation syndrome: A discussion of the differential diagnosis.
Pediatric dermatologySearch for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPE.
Acta dermato-venereologicaSomatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation.
European journal of medical geneticsAngioarchitecture of Hereditary Arteriovenous Malformations.
Seminars in interventional radiologyEPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report.
Pediatric dermatologyGermline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
CirculationCraniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
American journal of medical genetics. Part AA review of craniofacial and dental findings of the RASopathies.
Orthodontics & craniofacial researchPial Arteriovenous Fistula and Capillary Malformation-Arteriovenous Malformation Associated with RASA1 Mutation: 2 Pediatric Cases with Successful Surgical Management.
Pediatric neurosurgeryRASA1 regulates the function of lymphatic vessel valves in mice.
The Journal of clinical investigationRhodoid naevus syndrome: why is this name preferable to 'capillary malformation-arteriovenous malformation'?
Journal of the European Academy of Dermatology and Venereology : JEADV5q14.3 Microdeletions: A Contiguous Gene Syndrome with Capillary Malformation-Arteriovenous Malformation Syndrome and Neurologic Findings.
Pediatric dermatologyPrenatal diagnosis of cerebral and extracerebral high-flow lesions revealing familial capillary malformation-arteriovenous malformation (CM-AVM) syndrome.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyModeling RASopathies with Genetically Modified Mouse Models.
Methods in molecular biology (Clifton, N.J.)The pathobiology of vascular malformations: insights from human and model organism genetics.
The Journal of pathologyMultifocal vascular lesions.
Seminars in cutaneous medicine and surgeryGenetic basis for vascular anomalies.
Seminars in cutaneous medicine and surgeryA Typical Vascular and Pigmentary Dermoscopic Pattern of Capillary Malformations in Capillary Malformation-Arteriovenous Malformation Syndrome: Report of Four Cases.
Pediatric dermatologyVascular Stains: Proposal for a Clinical Classification to Improve Diagnosis and Management.
Pediatric dermatologyThe Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.
American journal of medical genetics. Part ARASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.
American journal of medical genetics. Part AA spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryDoctor, remember the roof. A memory connects a physician and his young patient.
Minnesota medicineRecent advances in RASopathies.
Journal of human geneticsPediatric central nervous system vascular malformations.
Pediatric radiologyMaternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis.
American journal of medical genetics. Part ACapillary malformations: a classification using specific names for specific skin disorders.
Journal of the European Academy of Dermatology and Venereology : JEADVHeredity of port-wine stains: investigation of families without a RASA1 mutation.
Journal of cosmetic and laser therapy : official publication of the European Society for Laser DermatologyAssociações
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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.
- Progressive non-immune hydrops fetalis associated with RASA1 mutation: prenatal imaging and genomic insights.
- COVID-19 Outcomes and Risk Factors for Hospitalization in Adult Patients With Primary Immunodeficiency.
- Addressing Palliative Care Gaps for Rare Congenital Disease in Adults: CM-AVM2 as an Example.
- Double Genetic Diagnosis Involving MECP2 and EPHB4 in a Child with Neurodevelopmental Delay and Vascular Anomalies: A Case Report.
- Capillary malformation-arteriovenous malformation syndrome (CM-AVM): a systematic review of cerebrovascular manifestations.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery· 2025· PMID 41398316mais citado
- Chinese capillary malformation-arteriovenous malformation: clinical and genetic analysis of eight cases.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:137667(Orphanet)
- MONDO:0012016(MONDO)
- GARD:11904(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55783570(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
