KEGG   DISEASE: Brain small vessel disease with hemorrhageHelp
Entry
H00877                      Disease                                

Name
Brain small vessel disease with hemorrhage
Description
Mutations in the COL4A1 gene, encoding the a1 chain of type IV collagen, causes highly variable cerebral hemorrhage disorders with overlapping features. Brain small vessel disease with hemorrhage is a condition associated with diffuse leukoencephalopathy and ocular malformations.
Category
Cardiovascular disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Vascular diseases
   H00877  Brain small vessel disease with hemorrhage
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Cerebrovascular diseases
   Cerebral ischaemia
    8B22  Certain specified cerebrovascular diseases
     H00877  Brain small vessel disease with hemorrhage
BRITE hierarchy
Pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
Gene
COL4A1 [HSA:1282] [KO:K06237]
Other DBs
ICD-11: 8B22.CY
ICD-10: I67.3
MeSH: C564372
OMIM: 607595
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

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