Home > E. Pathology by systems > Nervous system > Central nervous system > Brain > cerebral capillary malformation
cerebral capillary malformation
MIM.116860
Wednesday 26 November 2003
Definition: Cerebral cavernous malformation is a venulocapillar vascular malformation.
Cerebral cavernous malformations (CCM) are hamartomatous vascular malformations characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. They cause seizures and focal neurological deficits due to cerebral hemorrhages.
Etiology
CCM loci have already been assigned to chromosomes 7q (CCM1), 7p (CCM2), and 3q (CCM3) and have been identified in 40%, 20%, and 40%, respectively, of families with cerebral capillary malformation.
Locus CCM1 at 7q21-q22: mutation in the gene CCM1 or KRIT1 (Krev interaction trapped-1) (MIM.604214) at 7q11.2-q21
Locus CCM2 (MIM.603284) at 7p13: germline mutations of the C7ORF22 gene (MIM.607929)
Locus CCM3 (MIM.603285) at 3q25.2-q27 : PDCD10 (programmed cell death 10) mutations (15543491)
Differential diagnosis
cerebral arteriovenous malformation (cerebral AVM) (MIM.108010)
diffuse hemangiomatosis (MIM.106070)
hereditary neurocutaneous angioma (MIM.106070)
- spinal arteriovenous malformtions with cutaneous malformations (MIM.106070)
