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cerebral cavernous malformation

^ http://purl.obolibrary.org/obo/MONDO_0000820

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. [ NCIT:C84626 ]

Term info

database cross reference
  • DOID:0060669 (MONDO:equivalentTo)
  • NCIT:C84626 (MONDO:equivalentTo)
  • Orphanet:164 (MONDO:equivalentTo)
abbreviation
CCM [ DOID:0060669 ]

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.

exactMatch

http://purl.obolibrary.org/obo/DOID_0060669, http://purl.obolibrary.org/obo/NCIT_C84626, http://purl.obolibrary.org/obo/Orphanet_164

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0003241

has exact synonym

cerebral cavernous malformation, cavernous angiomatous malformations, cerebral capillary malformations, brain cavernous hemangioma, CCM

has related synonym

familial cavernous angioma

id

MONDO:0000820

Term relations