cerebral cavernous malformation 2

Summary
Definition
A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13.
Super Class
cerebral cavernous malformation
Disease Ontology
DOID:0060670
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
83605 CCM2 CCM2 scaffold protein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 16 in total
HPO ID HPO Term
HP:0002858 Meningioma
HP:0100561 Spinal cord lesion
HP:0002315 Headache
HP:0012721 Venous malformation
HP:0001250 Seizure
HP:0011276 Vascular skin abnormality
HP:0012749 Focal T2 hypointense brainstem lesion
HP:0002572 Episodic vomiting
HP:0001028 Hemangioma
HP:0007872 Choroidal hemangioma
Displaying 1 entry
Gene ID Gene Symbol Description
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

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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: December 9, 2024