H00534 | |
H number | H00534 |
Name | Cerebral cavernous malformation |
Description | Cerebral cavernous malformations (CCM) are vascular malformations of the central nervous system comprising enlarged caverns with a single layer of endothelium, which easily lead to cerebral hemorrhages. The disease present as either sporadic or autosomal dominant conditions and is linked to three genes KRIT1, MGC4607, and PDCD10. Mutations in KRIT1 impair its interaction with ICAP-1 alpha, and influence beta 1 integrin-dependent angiogenesis. |
Category | Congenital malformation |
Network | - |
Gene | (CCM1) KRIT1 [HSA:889] [KO:K17705] (CCM2) MGC4607 [HSA:83605] [KO:K26416] (CCM3) PDCD10 [HSA:11235] [KO:K18269] (CCM4) PIK3CA [HSA:5290] [KO:K00922] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 8B22.41 ICD-10: Q28.3 MeSH: D020786 OMIM: 116860 603284 603285 619538 |
Reference | PMID:17670762 AUTHORS Brouillard P, Vikkula M TITLE Genetic causes of vascular malformations. JOURNAL Hum Mol Genet 16 Spec No. 2:R140-9 (2007) DOI:10.1093/hmg/ddm211 PMID:16379592 (CCM1,2,3) AUTHORS Wang QK TITLE Update on the molecular genetics of vascular anomalies. JOURNAL Lymphat Res Biol 3:226-33 (2005) DOI:10.1089/lrb.2005.3.226 PMID:34496175 (CCM4) AUTHORS Peyre M, Miyagishima D, Bielle F, Chapon F, Sierant M, Venot Q, Lerond J, Marijon P, Abi-Jaoude S, Le Van T, Labreche K, Houlston R, Faisant M, Clemenceau S, Boch AL, Nouet A, Carpentier A, Boetto J, Louvi A, Kalamarides M TITLE Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations. JOURNAL N Engl J Med 385:996-1004 (2021) DOI:10.1056/NEJMoa2100440 |