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GTR Home > Conditions/Phenotypes > CEREBRAL CAVERNOUS MALFORMATIONS 5

CEREBRAL CAVERNOUS MALFORMATIONS 5

Summary

Cerebral cavernous malformations and spinal cord cavernous malformations are common vascular abnormalities of the CNS that can lead to seizure, hemorrhage, and other neurologic defects (summary by Ren et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of cerebral cavernous malformations, see CCM1 (116860). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CCM5, MAPKKK3, MEKK3, MAP3K3
    Summary: mitogen-activated protein kinase kinase kinase 3

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