KEGG   DISEASE: SchizencephalyHelp
Entry
H01160                      Disease                                

Name
Schizencephaly
  Supergrp
Neuronal migration disorder [DS:H01835]
Description
Schizencephaly is a clinically and etiologically heterogeneous cerebral malformation presenting as unilateral or bilateral hemispheric cleft with direct connection between the inner and outer liquor spaces. Gray matter-lined clefts in the cerebral cortex and a range of neurological presentations are characteristic. Mutations in SIX3, SHH, and EMX2 have been reported.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the nervous system
   H01160  Schizencephaly
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
     H01160  Schizencephaly
BRITE hierarchy
Pathway
hsa04340  Hedgehog signaling pathway
Gene
SIX3 [HSA:6496] [KO:K19473]
SHH [HSA:6469] [KO:K11988]
EMX2 [HSA:2018] [KO:K09317]
Comment
Schizencephaly may be considered as part of the wide phenotypic spectrum of the distinct developmental anomaly holoprosencephaly [DS:H00267].
Other DBs
ICD-11: LA05.61
ICD-10: Q04.6
MeSH: D054220
OMIM: 269160
Reference
PMID:20157829 (description, gene, comment)
  Authors
Hehr U, Pineda-Alvarez DE, Uyanik G, Hu P, Zhou N, Hehr A, Schell-Apacik C, Altus C, Daumer-Haas C, Meiner A, Steuernagel P, Roessler E, Winkler J, Muenke M
  Title
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
  Journal
Hum Genet 127:555-61 (2010)
DOI:10.1007/s00439-010-0797-4
Reference
  Authors
Oh KY, Kennedy AM, Frias AE Jr, Byrne JL
  Title
Fetal schizencephaly: pre- and postnatal imaging with a review of the clinical manifestations.
  Journal
Radiographics 25:647-57 (2005)
DOI:10.1148/rg.253045103
Reference
PMID:8528262
  Authors
Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, Cama A, Boncinelli E
  Title
Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.
  Journal
Nat Genet 12:94-6 (1996)
DOI:10.1038/ng0196-94

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