arteriovenous malformations of the brain

Summary
Synonym
  • cerebral arteriovenous malformation
  • intracranial arteriovenous malformation
Definition
A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain.
Super Class
central nervous system benign neoplasm cerebrovascular disease hemangioma
Disease Ontology
DOID:0060688
Mondo Disease Ontology
MeSH
UMLS
ORDO
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
2022 ENG endoglin
3569 IL6 interleukin 6
3845 KRAS KRAS proto-oncogene, GTPase
Displaying all 4 entries
Gene ID Gene Symbol Description Source
11482 Acvrl1 activin A receptor, type II-like 1
13805 Eng endoglin
16653 Kras Kirsten rat sarcoma viral oncogene homolog
18132 Notch4 notch 4
The Human Phenotype Ontology
Displaying all 2 entries
HPO ID HPO Term
HP:0001442 Typified by somatic mosaicism
HP:0002408 Cerebral arteriovenous malformation
Displaying 1 entry
Gene ID Gene Symbol Description
3845 KRAS KRAS proto-oncogene, GTPase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025