| H00534 | |
| H番号 | H00534 |
| 名称 | 脳海綿状血管腫 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (CCM1) KRIT1 [HSA:889] [KO:K17705] (CCM2) MGC4607 [HSA:83605] [KO:K26416] (CCM3) PDCD10 [HSA:11235] [KO:K18269] (CCM4) PIK3CA [HSA:5290] [KO:K00922] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8B22.41 ICD-10: Q28.3 MeSH: D020786 OMIM: 116860 603284 603285 619538 |
| 文献 | PMID:17670762 著者 Brouillard P, Vikkula M タイトル Genetic causes of vascular malformations. 雑誌 Hum Mol Genet 16 Spec No. 2:R140-9 (2007) DOI:10.1093/hmg/ddm211 PMID:16379592 (CCM1,2,3) 著者 Wang QK タイトル Update on the molecular genetics of vascular anomalies. 雑誌 Lymphat Res Biol 3:226-33 (2005) DOI:10.1089/lrb.2005.3.226 PMID:34496175 (CCM4) 著者 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 タイトル Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations. 雑誌 N Engl J Med 385:996-1004 (2021) DOI:10.1056/NEJMoa2100440 |