| Domain | Core fact | Suggested ontology terms/IDs | Evidence type |
|---|---|---|---|
| Definition/identifiers | Brain arteriovenous malformation (brain AVM, bAVM) is a high-flow vascular malformation with direct artery-to-vein shunting and no intervening capillary bed; MONDO and OMIM identifiers are available. (pqac-00000000, pqac-00000008, pqac-00000018) | MONDO:0007154; OMIM:108010; MeSH: Arteriovenous Malformations | Aggregated disease ontology + human clinical |
| Synonyms | Common names include brain AVM, cerebral arteriovenous malformation, intracranial arteriovenous malformation, bAVM. (pqac-00000001, pqac-00000012) | Labels only | Aggregated disease-level resources + human clinical |
| Epidemiology | bAVM is uncommon; symptomatic discovery incidence is about 1.1 per 100,000 population, and prevalence estimates around 10 per 100,000 are cited in reviews. (pqac-00000012, pqac-00000018) | Label only: rare vascular disease | Human clinical/epidemiology |
| Major phenotype | Intracranial hemorrhage is a major presentation and complication; natural-history rupture risk is commonly estimated around 1%–4% per year depending on cohort and lesion features. (pqac-00000003, pqac-00000008, pqac-00000012) | HPO: HP:0002170 intracranial hemorrhage | Human clinical |
| Major phenotype | Seizures are a common presenting manifestation. (pqac-00000001, pqac-00000012) | HPO: HP:0001250 seizures | Human clinical |
| Major phenotype | Headache is a recognized presenting symptom. (pqac-00000012) | HPO: HP:0002315 headache | Human clinical |
| Major phenotype | Focal neurologic deficit can occur at presentation or after hemorrhage/treatment. (pqac-00000001, pqac-00000012) | HPO label: focal neurologic deficit | Human clinical |
| Anatomy | Primary affected structure is the brain vasculature, with a nidus connecting cerebral arteries and veins. (pqac-00000008, pqac-00000018) | UBERON:0000955 brain; UBERON label: cerebral blood vessel | Human clinical + human tissue |
| Key cell type | Endothelial cells are the principal disease-driving cell type in both sporadic and familial forms. (pqac-00000018, pqac-00000014, pqac-00000013) | CL:0000115 endothelial cell | Human tissue/omics + animal model |
| Key cell type | Pericytes participate in neurovascular-unit dysfunction and vessel instability. (pqac-00000014, pqac-00000013) | CL:0000669 pericyte | Human tissue/omics |
| Key cell type | Vascular smooth muscle cells/mural cells contribute to vessel maturation failure and hemorrhagic vulnerability. (pqac-00000004, pqac-00000019) | Cell label: vascular smooth muscle cell | Human tissue + review |
| Key cell type | Monocyte/macrophage infiltration is part of the inflammatory lesion microenvironment and may contribute to rupture biology. (pqac-00000014, pqac-00000015) | Cell label: monocyte/macrophage | Human tissue/omics |
| Mechanism | Pathologic angiogenesis and loss of vascular quiescence are central features. (pqac-00000015, pqac-00000014) | GO:0001525 angiogenesis | Human tissue/omics |
| Mechanism | Somatic RAS/MAPK activation is a key upstream driver in sporadic bAVM. (pqac-00000018, pqac-00000016) | GO:0000165 MAPK cascade | Human tissue genetics + animal model |
| Mechanism | Inflammatory signaling and immune-cell cross-talk are enriched in lesional tissue. (pqac-00000014, pqac-00000015) | GO:0006954 inflammatory response | Human tissue/omics |
| Mechanism | Endothelial migration/cytoskeletal remodeling is dysregulated in bAVM tissue. (pqac-00000015) | GO label: endothelial cell migration | Human bulk RNA-seq |
| Mechanism | Abnormal arteriovenous specification/differentiation is a recurrent theme across transcriptomic and developmental studies. (pqac-00000013, pqac-00000019) | GO label: arteriovenous specification | Human tissue/omics |
| Somatic genes | Sporadic bAVMs frequently harbor activating somatic mutations in KRAS; BRAF is also implicated. (pqac-00000018, pqac-00000016, pqac-00000001) | HGNC labels: KRAS; BRAF | Human lesion genetics + animal model |
| Germline genes | Familial/syndromic AVM predisposition includes HHT genes ENG, ACVRL1, SMAD4, GDF2 and CM-AVM genes RASA1, EPHB4. (pqac-00000018, pqac-00000001, pqac-00000000) | HGNC labels: ENG; ACVRL1; SMAD4; GDF2; RASA1; EPHB4 | Human inherited disease genetics |
| Epigenetics | Endothelial-cell methylome studies implicate differential methylation in KRAS, RBPJ, EPHB1 and pathways involving EC–VSMC crosstalk. (pqac-00000019) | Label only: DNA methylation | Human tissue/epigenomics |
| Transcriptomics | Bulk RNA-seq of resected bAVMs showed 736 upregulated and 498 downregulated genes, highlighting inflammation, cytoskeletal remodeling, reduced ECM integrity, angiopoietin-TIE, and TGF-β signaling changes. (pqac-00000015) | GO labels: extracellular matrix organization; cell migration | Human bulk RNA-seq |
| Single-cell profiling | Single-cell atlases identified abnormal endothelial states, altered arteriovenous zonation, immune crosstalk, and atypical endothelial MHC class II upregulation in brain vascular malformations. (pqac-00000014, pqac-00000013) | CL:0000115 endothelial cell; GO label: antigen presentation | Human single-cell RNA-seq |
| Diagnostics | Digital subtraction angiography remains the reference standard for diagnosis and angioarchitectural characterization. (pqac-00000006, pqac-00000007) | Procedure label: digital subtraction angiography | Human clinical imaging |
| Diagnostics | MRI/MRA are widely used; 2024 data support non-contrast 4D MRA for follow-up/characterization with accuracy comparable to contrast-enhanced 4D MRA in one retrospective cohort. (pqac-00000006, pqac-00000005) | Procedure labels: MRI; MRA | Human clinical imaging |
| Prognostic tools | Imaging-based hemorrhage stratification includes the VALE score: ventricular system involvement, venous aneurysm, deep location, exclusively deep drainage. (pqac-00000008) | Labels only: ventricular involvement; venous aneurysm; deep drainage | Human clinical prognostic model |
| Interventions | Standard interventions include microsurgical resection, endovascular embolization, stereotactic radiosurgery, or multimodality therapy; conservative management remains important for selected unruptured lesions. (pqac-00000012, pqac-00000009, pqac-00000010) | NCIT labels: surgical resection; embolization; stereotactic radiosurgery; conservative management | Human clinical + registry/trial |
| Current trials/implementation | Ongoing real-world and interventional studies include TOBAS (NCT02098252), MATCH registry (NCT04572568), and a liquid embolic agent randomized trial (PARTNER; NCT07314047). (pqac-00000012, pqac-00000010, pqac-00000011) | ClinicalTrials.gov: NCT02098252; NCT04572568; NCT07314047 | Clinical trials/registry |
| Experimental therapeutics | Preclinical targeted approaches include MEK/ERK-pathway inhibition, BRAF inhibition, and CRISPR/CasRx knockdown of mutant KRAS in endothelial-driven mouse models. (pqac-00000017, pqac-00000016, pqac-00000018) | Intervention labels: MEK inhibitor; BRAF inhibitor; CRISPR/CasRx | Animal model/preclinical |
| Prevention/screening | No established primary prevention exists for sporadic bAVM; secondary prevention is focused on risk stratification, imaging surveillance, and genetic/syndromic evaluation when HHT or CM-AVM is suspected. (pqac-00000012, pqac-00000001, pqac-00000018) | Label only: genetic counseling; surveillance imaging | Human clinical + inherited disease context |


*Table: This table condenses ontology-ready facts for brain arteriovenous malformation, spanning identifiers, phenotypes, cells, mechanisms, diagnostics, and interventions. It is designed to support direct knowledge-base population while keeping uncertain ontology IDs as labels only.*