KEGG   DISEASE: H00877Help
Entry
H00877                      Disease                                

Name
Brain small vessel disease with Axenfeld-Rieger anomaly
Description
Mutations in the COL4A1 gene, encoding the a1 chain of type IV collagen, causes highly variable cerebral haemorrhage disorders with overlapping features. Brain small vessel disease with Axenfeld-Rieger anomaly is a condition associated with diffuse leukoencephalopathy and ocular malformations of the Axenfeld-Rieger type.
Category
Vascular disease; Nervous system disease
BRITE hierarchy
Pathway
Focal adhesion
ECM-receptor interaction
Gene
COL4A1 [HSA:1282] [KO:K06237]
Other DBs
ICD-10: 
OMIM: 
Reference
PMID:21062344 (description, gene)
  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)
Reference
PMID:20558831 (description, gene)
  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)
Reference
PMID:20166936 (description, gene)
  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)
Reference
PMID:17696175 (description, gene)
  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)

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