KEGG DISEASE: Porencephaly

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-based classification of diseases [BR:br08402]
Cellular processes
  nt06548  Integrin signaling
   H00839  Porencephaly

Pathway

hsa04926

Relaxin signaling pathway

hsa04933

AGE-RAGE signaling pathway in diabetic complications

hsa04151

PI3K-Akt signaling pathway

hsa04518

Integrin signaling

hsa04510

Focal adhesion

hsa04512

ECM-receptor interaction

Network

nt06548 Integrin signaling

Gene

(BSVD1) COL4A1 [HSA:1282] [KO:K06237]
(BSVD2) COL4A2 [HSA:1284] [KO:K06237]

Other DBs

ICD-11:

LA05.60

MeSH:

D065708

OMIM:

175780 614483

Reference

PMID:20196853

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

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

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

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

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

» Japanese version

All links

Disease (2)   
   OMIM (2)   
All databases (2)   

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