| H00877 | |
| H番号 | H00877 |
| 名称 | 脳小血管病 |
| 概要 | Brain small vessel disease (BSVD) cause lacunar infarcts, cerebral microbleeds, or diffuse white matter diseases. Approximately 5% of BSVDs are considered hereditary, with an extremely young age of onset. To date, several genes have been associated with hereditary BSVD. Mutations in the COL4A1 gene, encoding the a1 chain of type IV collagen, cause brain small vessel disease with hemorrhage, that is a condition associated with diffuse leukoencephalopathy and ocular malformations. |
| カテゴリ | 循環器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (BSVD1) COL4A1 [HSA:1282] [KO:K06237] (BSVD2) COL4A2 [HSA:1284] [KO:K06237] (BSVD3) COLGALT1 [HSA:79709] [KO:K11703] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8B22.CY ICD-10: I67.3 MeSH: C564372 OMIM: 175780 614483 618360 |
| 文献 | PMID:21062344 著者 Yamamoto Y, Craggs L, Baumann M, Kalimo H, Kalaria RN タイトル Review: molecular genetics and pathology of hereditary small vessel diseases of the brain. 雑誌 Neuropathol Appl Neurobiol 37:94-113 (2011) DOI:10.1111/j.1365-2990.2010.01147.x PMID:20558831 著者 Lanfranconi S, Markus HS タイトル COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. 雑誌 Stroke 41:e513-8 (2010) DOI:10.1161/STROKEAHA.110.581918 PMID:20166936 著者 Volonghi I, Pezzini A, Del Zotto E, Giossi A, Costa P, Ferrari D, Padovani A タイトル Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. The COL4A1 stroke syndrome. 雑誌 Curr Med Chem 17:1317-24 (2010) DOI:10.2174/092986710790936293 PMID:17696175 著者 Sibon I, Coupry I, Menegon P, Bouchet JP, Gorry P, Burgelin I, Calvas P, Orignac I, Dousset V, Lacombe D, Orgogozo JM, Arveiler B, Goizet C タイトル COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. 雑誌 Ann Neurol 62:177-84 (2007) DOI:10.1002/ana.21191 PMID:30413629 著者 Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leao M, Gartner J, Merkenschlager A, Jaksch M, Moller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Ounap K, Korber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM タイトル Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease. 雑誌 Neurology 91:e2078-e2088 (2018) DOI:10.1212/WNL.0000000000006567 PMID:30412317 著者 Miyatake S, Schneeberger S, Koyama N, Yokochi K, Ohmura K, Shiina M, Mori H, Koshimizu E, Imagawa E, Uchiyama Y, Mitsuhashi S, Frith MC, Fujita A, Satoh M, Taguri M, Tomono Y, Takahashi K, Doi H, Takeuchi H, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Tanaka F, Ogata K, Hennet T, Matsumoto N タイトル Biallelic COLGALT1 variants are associated with cerebral small vessel disease. 雑誌 Ann Neurol 84:843-853 (2018) DOI:10.1002/ana.25367 |