| H00877 | |
| H number | H00877 |
| Name | Brain small vessel disease |
| Description | 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. |
| Category | Cardiovascular disease |
| Network | - |
| Gene | (BSVD1) COL4A1 [HSA:1282] [KO:K06237] (BSVD2) COL4A2 [HSA:1284] [KO:K06237] (BSVD3) COLGALT1 [HSA:79709] [KO:K11703] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8B22.CY ICD-10: I67.3 MeSH: C564372 OMIM: 175780 614483 618360 |
| Reference | PMID:21062344 AUTHORS Yamamoto Y, Craggs L, Baumann M, Kalimo H, Kalaria RN TITLE Review: molecular genetics and pathology of hereditary small vessel diseases of the brain. JOURNAL Neuropathol Appl Neurobiol 37:94-113 (2011) DOI:10.1111/j.1365-2990.2010.01147.x PMID:20558831 AUTHORS Lanfranconi S, Markus HS TITLE COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. JOURNAL Stroke 41:e513-8 (2010) DOI:10.1161/STROKEAHA.110.581918 PMID:20166936 AUTHORS Volonghi I, Pezzini A, Del Zotto E, Giossi A, Costa P, Ferrari D, Padovani A TITLE Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. The COL4A1 stroke syndrome. JOURNAL Curr Med Chem 17:1317-24 (2010) DOI:10.2174/092986710790936293 PMID:17696175 AUTHORS 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 TITLE COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. JOURNAL Ann Neurol 62:177-84 (2007) DOI:10.1002/ana.21191 PMID:30413629 AUTHORS 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 TITLE Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease. JOURNAL Neurology 91:e2078-e2088 (2018) DOI:10.1212/WNL.0000000000006567 PMID:30412317 AUTHORS 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 TITLE Biallelic COLGALT1 variants are associated with cerebral small vessel disease. JOURNAL Ann Neurol 84:843-853 (2018) DOI:10.1002/ana.25367 |