KEGG   DISEASE: PorencephalyHelp
Entry
H00839                      Disease                                

Name
Porencephaly
Description
Porencephaly is a rare disease of central nervous system characterized by the existence of degenerative cavities filled with cerebrospinal fluid in the brain. It is probably caused by perinatal intracerebral hemorrhages.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Congenital disorders of development
   H00839  Porencephaly
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G90-G99  Other disorders of the nervous system
   G93  Other disorders of brain
    H00839  Porencephaly
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q00-Q07  Congenital malformations of the nervous system
   Q04  Other congenital malformations of brain
    H00839  Porencephaly
BRITE hierarchy
Pathway
Focal adhesion
ECM-receptor interaction
Gene
COL4A1 [HSA:1282] [KO:K06237]
COL4A2 [HSA:1284] [KO:K06237]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:20196853 (description)
  Authors
Douzenis A, Rizos EN, Papadopoulou A, Papathanasiou M, Lykouras L
  Title
Porencephaly and psychosis: a case report and review of the literature.
  Journal
BMC Psychiatry 10:19 (2010)
DOI:10.1186/1471-244X-10-19
Reference
PMID:21157337 (description, gene)
  Authors
Vahedi K, Alamowitch S
  Title
Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.
  Journal
Curr Opin Neurol 24:63-8 (2011)
DOI:10.1097/WCO.0b013e32834232c6
Reference
PMID:16107487 (description, gene)
  Authors
Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM
  Title
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
  Journal
J Med Genet 43:490-5 (2006)
DOI:10.1136/jmg.2005.035584
Reference
PMID:15905400 (description, gene)
  Authors
Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW
  Title
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.
  Journal
Science 308:1167-71 (2005)
DOI:10.1126/science.1109418
Reference
PMID:22209246 (gene)
  Authors
Yoneda Y, Haginoya K, Arai H, Yamaoka S, Tsurusaki Y, Doi H, Miyake N, Yokochi K, Osaka H, Kato M, Matsumoto N, Saitsu H
  Title
De novo and inherited mutations in COL4A2, encoding the type IV collagen alpha2 chain cause porencephaly.
  Journal
Am J Hum Genet 90:86-90 (2012)
DOI:10.1016/j.ajhg.2011.11.016

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