KEGG   DISEASE: PolymicrogyriaHelp
Entry
H00271                      Disease                                

Name
Polymicrogyria
  Supergrp
Neuronal migration disorder [DS:H01835]
Description
Polymicrogyria (PMG) is a malformation of cortical development characterized by an excessive number of small gyri with abnormal lamination.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the nervous system
   H00271  Polymicrogyria
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
     H00271  Polymicrogyria
BRITE hierarchy
Gene
GPR56 [HSA:9289] [KO:K08450]
SRPX2 [HSA:27286] [KO:K19408]
PAX6 [HSA:5080] [KO:K08031]
KIAA1279 [HSA:26128]
EOMES [HSA:8320] [KO:K10173]
RAB3GAP1 [HSA:22930] [KO:K18270]
COL18A1 [HSA:80781] [KO:K06823]
TUBA8 [HSA:51807] [KO:K07374]
TUBB2B [HSA:347733] [KO:K07375]
RTTN [HSA:25914] [KO:K16484]
FIG4 [HSA:9896] [KO:K22913]
PI4KA [HSA:5297] [KO:K00888]
Other DBs
ICD-11: LA05.50
ICD-10: Q04.8
MeSH: D054220
OMIM: 606854 615752 300388 610031 613180 614833 612691 616531
Reference
  Authors
Guerrini R, Dobyns WB, Barkovich AJ
  Title
Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options.
  Journal
Trends Neurosci 31:154-62 (2008)
DOI:10.1016/j.tins.2007.12.004
Reference
  Authors
Jansen A, Andermann E
  Title
Genetics of the polymicrogyria syndromes.
  Journal
J Med Genet 42:369-78 (2005)
DOI:10.1136/jmg.2004.023952
Reference
  Authors
Abdollahi MR, Morrison E, Sirey T, Molnar Z, Hayward BE, Carr IM, Springell K, Woods CG, Ahmed M, Hattingh L, Corry P, Pilz DT, Stoodley N, Crow Y, Taylor GR, Bonthron DT, Sheridan E
  Title
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.
  Journal
Am J Hum Genet 85:737-44 (2009)
DOI:10.1016/j.ajhg.2009.10.007
Reference
  Authors
Guerrini R, Mei D, Cordelli DM, Pucatti D, Franzoni E, Parrini E
  Title
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.
  Journal
Eur J Hum Genet 20:995-8 (2012)
DOI:10.1038/ejhg.2012.21
Reference
  Authors
Kheradmand Kia S, Verbeek E, Engelen E, Schot R, Poot RA, de Coo IF, Lequin MH, Poulton CJ, Pourfarzad F, Grosveld FG, Brehm A, de Wit MC, Oegema R, Dobyns WB, Verheijen FW, Mancini GM
  Title
RTTN mutations link primary cilia function to organization of the human cerebral cortex.
  Journal
Am J Hum Genet 91:533-40 (2012)
DOI:10.1016/j.ajhg.2012.07.008
Reference
  Authors
Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ, Noe E, Poirier K, Hubans C, Ferreira S, Guerrini R, Ouazzani R, El Hachimi KH, Meisler MH, Leguern E
  Title
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
  Journal
Neurology 82:1068-75 (2014)
DOI:10.1212/WNL.0000000000000241
Reference
  Authors
Pagnamenta AT, Howard MF, Wisniewski E, Popitsch N, Knight SJ, Keays DA, Quaghebeur G, Cox H, Cox P, Balla T, Taylor JC, Kini U
  Title
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
  Journal
Hum Mol Genet 24:3732-41 (2015)
DOI:10.1093/hmg/ddv117

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