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Parent Node:
expandcongenital nervous system disorder (MONDO:0002320)
..Starting node
..expandcerebral cavernous malformation ()

       Child Nodes:
........expandfamilial cerebral cavernous malformation ()



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Further data from MedGen, OMIM,ClinVar, CTD
Term ID:820
Name:cerebral cavernous malformation
Definition:A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.
Alternative IDs:
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Synonyms:cavernous angiomatous malformations; CCM; cerebral capillary malformations; familial cavernous angioma
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Reference: MedGen:
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