cerebral cavernous malformation

Summary
Synonym
  • cavernous angiomatous malformations
  • cerebral capillary malformations
  • familial cavernous angioma
Definition
A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support.
Super Class
cerebrovascular disease
Disease Ontology
DOID:0060669
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 12 of 12 in total
Gene ID Gene Symbol Description Source
57674 RNF213 ring finger protein 213
83605 CCM2 CCM2 scaffold protein
Displaying all 6 entries
Gene ID Gene Symbol Description Source
14254 Flt1 FMS-like tyrosine kinase 1
16542 Kdr kinase insert domain protein receptor
18706 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
18979 Pon1 paraoxonase 1
217866 Cdc42bpb CDC42 binding protein kinase beta
226751 Cdc42bpa CDC42 binding protein kinase alpha
Displaying all 3 entries
Gene ID Gene Symbol Description Source
25589 Kdr kinase insert domain receptor
84024 Pon1 paraoxonase 1
170911 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
Displaying all 2 entries
Gene ID Gene Symbol Description Source
447803 pon1 paraoxonase 1
554230 kdr kinase insert domain receptor (a type III receptor tyrosine kinase)
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
448598 pon2 paraoxonase 2 Xenopus tropicalis (tropical clawed frog)
Displaying all 5 entries
Gene ID Gene Symbol Description Source
171999 poml-2 Arylesterase
175182 ver-1 Protein ver-1
181289 ver-3 Tyrosine-protein kinase receptor ver-3
186632 ver-4 Tyrosine-protein kinase receptor ver-4
187297 poml-1 PON (paraoxonase) and MEC-6 Like

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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