KEGG   DISEASE: Brain small vessel disease
Entry
H00877                      Disease                                
Name
Brain small vessel disease
  Subgroup
Porencephaly [DS:H00839]
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Cerebrovascular diseases
   8B22  Certain specified cerebrovascular diseases
    H00877  Brain small vessel disease
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00877  Brain small vessel disease
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa04512  ECM-receptor interaction
hsa04510  Focal adhesion
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04151  PI3K-Akt signaling pathway
hsa04926  Relaxin signaling pathway
Network
nt06539 Cytoskeleton in muscle cells
Gene
(BSVD1) COL4A1 [HSA:1282] [KO:K06237]
(BSVD2) COL4A2 [HSA:1284] [KO:K06237]
(BSVD3) COLGALT1 [HSA:79709] [KO:K11703]
Other DBs
ICD-11: 8B22.CY
ICD-10: I67.3
MeSH: C564372
OMIM: 175780 614483 618360
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
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