KEGG   DISEASE: Porencephaly
Entry
H00839                      Disease                                
Name
Porencephaly
  Supergrp
Brain small vessel disease [DS:H00877]
Neuronal migration disorder [DS:H01835]
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
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the nervous system
    LA05  Cerebral structural developmental anomalies
     H00839  Porencephaly
Pathway
hsa04926  Relaxin signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
Gene
COL4A1 [HSA:1282] [KO:K06237]
COL4A2 [HSA:1284] [KO:K06237]
Other DBs
ICD-11: LA05.60
ICD-10: Q04.6 G93.0
MeSH: C536850
OMIM: 175780 614483
Reference
  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
  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
  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
  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
  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
LinkDB

» Japanese version

DBGET integrated database retrieval system